#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
ABCA10	10349	genome.wustl.edu	37	17	67148624	67148624	+	Splice_Site	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:67148624T>A	ENST00000269081.4	-	36	5046		c.e36-2		ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTATCTGCCTAAAGATAAAG	0.398																																																	0													104.0	96.0	99.0					17																	67148624		2203	4300	6503	SO:0001630	splice_region_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4137-2A>T	17.37:g.67148624T>A			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	SNP	-	e33-2	ENST00000269081.4	37	c.4137-2	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	9.656	1.142815	0.21205	.	.	ENSG00000154263	ENST00000269081	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6679	0.51385	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA10	64660219	1.000000	0.71417	0.920000	0.36463	0.060000	0.15804	6.532000	0.73825	1.390000	0.46547	0.460000	0.39030	.	ABCA10	-	-	ENSG00000154263		0.398	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0.00	50	0	T	NM_080282	Intron	67148624	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	0.994	A
ACSM2B	348158	genome.wustl.edu	37	16	20548600	20548600	+	Missense_Mutation	SNP	C	C	T	rs562863484	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:20548600C>T	ENST00000329697.6	-	14	1882	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G572R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G493R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G572R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	572					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGCTTTTCCGGACATCTTC	0.458													c|||	2	0.000399361	0.0	0.0	5008	,	,		18718	0.002		0.0	False		,,,				2504	0.0																0													256.0	235.0	242.0					16																	20548600		2202	4300	6502	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1714G>A	16.37:g.20548600C>T	ENSP00000327453:p.Gly572Arg		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G572R	ENST00000329697.6	37	c.1714	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444647	0.12164	.	.	ENSG00000066813	ENST00000329697	T	0.44482	0.92	2.53	-1.41	0.08941	.	1.211330	0.06520	N	0.739421	T	0.23094	0.0558	N	0.17474	0.49	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.22941	-1.0202	10	0.12103	T	0.63	-1.2015	7.8631	0.29522	0.0:0.3288:0.0:0.6712	.	572	Q68CK6	ACS2B_HUMAN	R	572	ENSP00000327453:G572R	ENSP00000327453:G572R	G	-	1	0	ACSM2B	20456101	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.141000	0.10327	-0.307000	0.08804	-0.874000	0.02982	GGA	ACSM2B	-	NULL	ENSG00000066813		0.458	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0.00	143	0	C	NM_182617		20548600	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	25.62	151	52	SNP	0.000	T
ADAMTS2	9509	genome.wustl.edu	37	5	178634592	178634592	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:178634592C>T	ENST00000251582.7	-	4	914	c.813G>A	c.(811-813)ctG>ctA	p.L271L	ADAMTS2_ENST00000274609.5_Silent_p.L271L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	271	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACGCCCAGCAGGACCTCGA	0.627																																																	0													182.0	151.0	162.0					5																	178634592		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.813G>A	5.37:g.178634592C>T				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.L271	ENST00000251582.7	37	c.813	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000087116		0.627	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	61	0	C	NM_014244		178634592	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T
ADAMTS7	11173	genome.wustl.edu	37	15	79082078	79082078	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:79082078G>T	ENST00000388820.4	-	7	1341	c.1131C>A	c.(1129-1131)gaC>gaA	p.D377E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGGCCCGTGTCCTCGTTGA	0.657																																																	0													31.0	28.0	29.0					15																	79082078		2196	4291	6487	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1131C>A	15.37:g.79082078G>T	ENSP00000373472:p.Asp377Glu		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D377E	ENST00000388820.4	37	c.1131	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831159	0.71258	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.89196	-2.48	4.99	4.06	0.47325	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93158	0.7821	M	0.84082	2.675	0.48511	D	0.999663	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.985	D	0.91419	0.5157	10	0.40728	T	0.16	.	7.069	0.25167	0.2078:0.0:0.7922:0.0	.	377;377;377	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	E	377	ENSP00000373472:D377E	ENSP00000373472:D377E	D	-	3	2	ADAMTS7	76869133	1.000000	0.71417	0.995000	0.50966	0.527000	0.34593	3.909000	0.56363	1.055000	0.40461	0.591000	0.81541	GAC	ADAMTS7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000136378		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	-	0.00	96	0	G	NM_014272		79082078	-1	tier1	-	no_errors	ENST00000388820	ensembl	human	known	74_37	missense	45.54	61	51	SNP	1.000	T
ADCY2	108	genome.wustl.edu	37	5	7709445	7709445	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:7709445C>T	ENST00000338316.4	+	10	1612	c.1523C>T	c.(1522-1524)gCa>gTa	p.A508V	ADCY2_ENST00000537121.1_Missense_Mutation_p.A328V|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	508					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGCCCTTTGCACACCTACAT	0.597																																																	0													96.0	72.0	81.0					5																	7709445		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1523C>T	5.37:g.7709445C>T	ENSP00000342952:p.Ala508Val		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A508V	ENST00000338316.4	37	c.1523	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	c	36	5.867201	0.97043	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.78003	-1.14;-1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.74647	2.275	0.80722	D	1	P;P	0.45569	0.526;0.861	P;P	0.56216	0.672;0.794	D	0.86991	0.2110	10	0.62326	D	0.03	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	328;508	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	508;341;328	ENSP00000342952:A508V;ENSP00000444803:A328V	ENSP00000342952:A508V	A	+	2	0	ADCY2	7762445	1.000000	0.71417	0.927000	0.36925	0.998000	0.95712	7.576000	0.82467	2.644000	0.89710	0.558000	0.71614	GCA	ADCY2	-	pfam_Adenylate_cyclase-like	ENSG00000078295		0.597	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0.00	43	0	C	NM_020546		7709445	+1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
ADORA2A	135	genome.wustl.edu	37	22	24836614	24836614	+	Silent	SNP	G	G	A	rs201432461		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:24836614G>A	ENST00000337539.7	+	3	855	c.396G>A	c.(394-396)tcG>tcA	p.S132S	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	132					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGGTGCTGTCGTTTGCCATCG	0.597																																																	0													171.0	161.0	164.0					22																	24836614		2203	4300	6503	SO:0001819	synonymous_variant	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.396G>A	22.37:g.24836614G>A			B2R7E0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.S132	ENST00000337539.7	37	c.396	CCDS13826.1	22																																																																																			ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000128271		0.597	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	-	0.00	74	0	G	NM_000675		24836614	+1	tier1	rs201432461	no_errors	ENST00000337539	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.415	A
AFF3	3899	genome.wustl.edu	37	2	100210284	100210284	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:100210284C>T	ENST00000409236.2	-	13	1951	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	AFF3_ENST00000356421.2_Silent_p.A638A|AFF3_ENST00000317233.4_Silent_p.A613A|AFF3_ENST00000409579.1_Silent_p.A638A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	613					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTCCCCAGCGCGTCCGCGG	0.731																																																	0													17.0	21.0	20.0					2																	100210284		2188	4274	6462	SO:0001819	synonymous_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1839G>A	2.37:g.100210284C>T			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.A638	ENST00000409236.2	37	c.1914	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.731	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0.00	15	0	C	NM_002285		100210284	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.000	T
AKAP13	11214	genome.wustl.edu	37	15	86028968	86028968	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:86028968A>T	ENST00000394518.2	+	2	112	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q6L|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q6L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	6					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTAATCCACAGCAAGCTCCC	0.333																																					Melanoma(94;603 1453 3280 32295 32951)												0													157.0	141.0	146.0					15																	86028968		2203	4299	6502	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.17A>T	15.37:g.86028968A>T	ENSP00000378026:p.Gln6Leu		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q6L	ENST00000394518.2	37	c.17	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	A	9.492	1.100850	0.20552	.	.	ENSG00000170776	ENST00000361243;ENST00000394518	T;T	0.60672	0.17;0.17	5.35	4.2	0.49525	.	.	.	.	.	T	0.64394	0.2594	L	0.50333	1.59	0.80722	D	1	D;D;B	0.61697	0.983;0.99;0.178	P;P;B	0.59487	0.725;0.858;0.053	T	0.65483	-0.6157	9	0.72032	D	0.01	.	9.5159	0.39104	0.822:0.178:0.0:0.0	.	6;6;6	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	L	6	ENSP00000354718:Q6L;ENSP00000378026:Q6L	ENSP00000354718:Q6L	Q	+	2	0	AKAP13	83829972	1.000000	0.71417	0.868000	0.34077	0.921000	0.55340	5.268000	0.65536	0.958000	0.37956	0.529000	0.55759	CAG	AKAP13	-	NULL	ENSG00000170776		0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0.00	52	0	A	NM_007200		86028968	+1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.959	T
AKAP9	10142	genome.wustl.edu	37	7	91631632	91631632	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:91631632G>A	ENST00000359028.2	+	9	2662	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E813K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E801K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	813	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGCCAAGAAGAAAGATTGAT	0.333			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													70.0	77.0	75.0					7																	91631632		2203	4296	6499	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2437G>A	7.37:g.91631632G>A	ENSP00000351922:p.Glu813Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E813K	ENST00000359028.2	37	c.2437		7	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933737	0.52866	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03801	3.81;3.81;3.8	5.68	5.68	0.88126	.	0.000000	0.41500	D	0.000869	T	0.17365	0.0417	L	0.48362	1.52	0.42466	D	0.992801	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.80764	0.994;0.991;0.991;0.98	T	0.00038	-1.2246	10	0.59425	D	0.04	.	18.3281	0.90260	0.0:0.0:1.0:0.0	.	813;801;801;813	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	801;813;813;813;813	ENSP00000348573:E801K;ENSP00000351922:E813K;ENSP00000350813:E813K	ENSP00000348573:E801K	E	+	1	0	AKAP9	91469568	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.994000	0.63901	2.834000	0.97654	0.655000	0.94253	GAA	AKAP9	-	NULL	ENSG00000127914		0.333	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0.00	83	0	G	NM_005751		91631632	+1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	32.18	59	28	SNP	1.000	A
AKT1	207	genome.wustl.edu	37	14	105242111	105242111	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:105242111T>C	ENST00000554581.1	-	4	1793	c.313A>G	c.(313-315)Act>Gct	p.T105A	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.T43A|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.T105A|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554848.1_Missense_Mutation_p.T105A|AKT1_ENST00000407796.2_Missense_Mutation_p.T105A|AKT1_ENST00000555528.1_Missense_Mutation_p.T105A|AKT1_ENST00000349310.3_Missense_Mutation_p.T105A			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCAGCCACAGTCTGGATGGCG	0.622		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													112.0	75.0	87.0					14																	105242111		2203	4300	6503	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.313A>G	14.37:g.105242111T>C	ENSP00000451828:p.Thr105Ala		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.T105A	ENST00000554581.1	37	c.313	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	T	0.706	-0.788807	0.02884	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;0.99;-0.85;0.99	3.9	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.280851	0.35291	N	0.003319	T	0.44329	0.1288	N	0.03016	-0.435	0.39959	D	0.974639	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.07175	T	0.84	.	9.2654	0.37639	0.0:0.0:0.182:0.818	.	105	P31749	AKT1_HUMAN	A	105;105;105;105;105;43;105;43	ENSP00000451828:T105A;ENSP00000384293:T105A;ENSP00000270202:T105A;ENSP00000385326:T105A;ENSP00000450688:T105A;ENSP00000443897:T43A;ENSP00000451166:T105A;ENSP00000451290:T43A	ENSP00000270202:T105A	T	-	1	0	AKT1	104313156	1.000000	0.71417	0.979000	0.43373	0.598000	0.36846	3.488000	0.53229	1.626000	0.50381	0.368000	0.22195	ACT	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.622	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0.00	50	0	T	NM_005163		105242111	-1	tier1	-	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.997	C
ANKFN1	162282	genome.wustl.edu	37	17	54588022	54588022	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:54588022G>A	ENST00000566473.2	+	20	2842	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M				Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGTGCACGACGTGAAAACCCC	0.627																																																	0																																										SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.2842G>A	17.37:g.54588022G>A	ENSP00000454224:p.Val948Met			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.V948M	ENST00000566473.2	37	c.2842		17																																																																																			ANKFN1	-	NULL	ENSG00000153930		0.627	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000435456.2	-	0.00	63	0	G	NM_153228		54588022	+1	tier1	-	no_errors	ENST00000566473	ensembl	human	novel	74_37	missense	42.31	45	33	SNP	0.341	A
ANP32B	10541	genome.wustl.edu	37	9	100774735	100774735	+	Silent	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:100774735A>G	ENST00000339399.4	+	6	864	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	223	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)	p.E223E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AAGAAGATGAAGATGAGGATG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											151.0	149.0	150.0					9																	100774735		2203	4300	6503	SO:0001819	synonymous_variant	0			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.669A>G	9.37:g.100774735A>G			B2R9C7|O00655|P78458|P78459	Silent	SNP	smart_U2A'_phosphoprotein32A_C	p.E223	ENST00000339399.4	37	c.669	CCDS6732.1	9																																																																																			ANP32B	-	NULL	ENSG00000136938		0.318	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4		0.00	66	0	A	NM_006401		100774735	+1			no_errors	ENST00000339399	ensembl	human	known	74_37	silent	12.86	61	9	SNP	0.995	G
AP1B1	162	genome.wustl.edu	37	22	29750649	29750649	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:29750649C>T	ENST00000405198.1	-	6	959	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	AP1B1_ENST00000432560.2_Missense_Mutation_p.V310M|AP1B1_ENST00000317368.7_Missense_Mutation_p.V310M|AP1B1_ENST00000402502.1_Missense_Mutation_p.V310M|AP1B1_ENST00000357586.2_Missense_Mutation_p.V310M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V310M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V310M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	310					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTTCTGCACGATGAGATTG	0.592																																																	0													139.0	109.0	119.0					22																	29750649		2203	4300	6503	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.928G>A	22.37:g.29750649C>T	ENSP00000384194:p.Val310Met		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.V310M	ENST00000405198.1	37	c.928	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530160	0.85706	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	4.75	4.75	0.60458	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.116529	0.64402	D	0.000016	T	0.41581	0.1165	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.988;0.974;1.0;1.0	P;P;D;D	0.97110	0.458;0.458;0.996;1.0	T	0.43130	-0.9410	10	0.87932	D	0	-20.1713	17.5237	0.87793	0.0:1.0:0.0:0.0	.	310;310;310;310	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	M	310	ENSP00000350199:V310M;ENSP00000348297:V310M;ENSP00000400065:V310M;ENSP00000384194:V310M;ENSP00000319361:V310M;ENSP00000386071:V310M;ENSP00000387612:V310M;ENSP00000400022:V310M	ENSP00000319361:V310M	V	-	1	0	AP1B1	28080649	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.651000	0.83577	2.487000	0.83934	0.591000	0.81541	GTG	AP1B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu_1_2_4	ENSG00000100280		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	-	0.00	55	0	C	NM_001127		29750649	-1	tier1	-	no_errors	ENST00000357586	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
AP4B1	10717	genome.wustl.edu	37	1	114443011	114443011	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:114443011A>T	ENST00000369569.1	-	5	909	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	AP4B1_ENST00000256658.4_Missense_Mutation_p.L210Q|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L42Q|AP4B1_ENST00000369566.3_Missense_Mutation_p.L117Q	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	210					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTGGTCCAGTTTTGACAT	0.413																																																	0													52.0	49.0	50.0					1																	114443011		2203	4300	6503	SO:0001583	missense	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.629T>A	1.37:g.114443011A>T	ENSP00000358582:p.Leu210Gln		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.L210Q	ENST00000369569.1	37	c.629	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149883	0.57151	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.39056	1.67;1.67;1.67;1.1;1.67;1.67;1.67	5.26	5.26	0.73747	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.466719	0.22181	N	0.063506	T	0.48241	0.1489	L	0.44542	1.39	0.50467	D	0.999877	D;D;D;D	0.76494	0.995;0.997;0.999;0.997	D;D;D;D	0.74023	0.926;0.968;0.982;0.968	T	0.52147	-0.8614	10	0.66056	D	0.02	.	15.4827	0.75539	1.0:0.0:0.0:0.0	.	117;42;210;111	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	Q	42;210;210;117;135;42;210	ENSP00000358580:L42Q;ENSP00000358582:L210Q;ENSP00000256658:L210Q;ENSP00000358579:L117Q;ENSP00000358577:L135Q;ENSP00000393622:L42Q;ENSP00000358584:L210Q	ENSP00000256658:L210Q	L	-	2	0	AP4B1	114244534	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.782000	0.62396	2.114000	0.64651	0.459000	0.35465	CTG	AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000134262		0.413	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1		0.00	14	0	A	NM_006594		114443011	-1			no_errors	ENST00000256658	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.996	T
APBA2	321	genome.wustl.edu	37	15	29346720	29346720	+	Silent	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:29346720C>A	ENST00000558402.1	+	5	1232	c.633C>A	c.(631-633)cgC>cgA	p.R211R	APBA2_ENST00000558259.1_Silent_p.R211R|APBA2_ENST00000558330.1_Silent_p.R211R|APBA2_ENST00000561069.1_Silent_p.R211R|APBA2_ENST00000411764.1_Silent_p.R211R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	211	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCCCTACCGCCTGAGGCGTG	0.602																																																	0													44.0	34.0	37.0					15																	29346720		2201	4300	6501	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.633C>A	15.37:g.29346720C>A			E9PGI4|O60571|Q5XKC0	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.R211	ENST00000558402.1	37	c.633	CCDS10022.1	15																																																																																			APBA2	-	NULL	ENSG00000034053		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0.00	45	0	C	NM_005503		29346720	+1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	22.22	42	12	SNP	0.029	A
ARAP2	116984	genome.wustl.edu	37	4	36122944	36122944	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr4:36122944G>T	ENST00000303965.4	-	23	4240	c.3751C>A	c.(3751-3753)Cag>Aag	p.Q1251K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAGCATTTCTGAACCCTGTCA	0.333																																																	0													86.0	88.0	88.0					4																	36122944		2203	4299	6502	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3751C>A	4.37:g.36122944G>T	ENSP00000302895:p.Gln1251Lys		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.Q1251K	ENST00000303965.4	37	c.3751	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780096	0.90195	.	.	ENSG00000047365	ENST00000303965	T	0.18174	2.23	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.059881	0.64402	D	0.000001	T	0.43255	0.1239	M	0.69823	2.125	0.54753	D	0.999986	D	0.69078	0.997	D	0.66979	0.948	T	0.14587	-1.0467	10	0.54805	T	0.06	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	1251	Q8WZ64	ARAP2_HUMAN	K	1251	ENSP00000302895:Q1251K	ENSP00000302895:Q1251K	Q	-	1	0	ARAP2	35799339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.725000	0.91468	2.788000	0.95919	0.650000	0.86243	CAG	ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.333	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	75	0	G	NM_015230		36122944	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
ARHGEF33	100271715	genome.wustl.edu	37	2	39184039	39184039	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:39184039G>T	ENST00000536934.1	+	12	1306		c.e12-1		ARHGEF33_ENST00000409978.1_Splice_Site|ARHGEF33_ENST00000398800.4_Splice_Site			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						CCTCCATCCAGAACGTCCTGA	0.458																																																	0													104.0	88.0	93.0					2																	39184039		692	1591	2283	SO:0001630	splice_region_variant	0				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.1222-1G>T	2.37:g.39184039G>T			J3KPX2	Splice_Site	SNP	-	e12-1	ENST00000536934.1	37	c.1222-1		2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142301	0.77775	.	.	ENSG00000214694	ENST00000409978;ENST00000398800;ENST00000536934	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2249	0.93815	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF33	39037543	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.345000	0.79337	2.600000	0.87896	0.650000	0.86243	.	ARHGEF33	-	-	ENSG00000214694		0.458	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding			0.00	40	0	G	NM_001145451	Intron	39184039	+1			no_errors	ENST00000398800	ensembl	human	known	74_37	splice_site	13.79	25	4	SNP	1.000	T
ARMCX4	100131755	genome.wustl.edu	37	X	100747087	100747087	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:100747087G>T	ENST00000423738.3	+	2	3713	c.3511G>T	c.(3511-3513)Gct>Tct	p.A1171S		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						tggggccagggctgagaatgt	0.597																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.3511G>T	X.37:g.100747087G>T	ENSP00000404304:p.Ala1171Ser		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.A1171S	ENST00000423738.3	37	c.3511	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	2.317	-0.356570	0.05138	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.87	-1.77	0.07982	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	.	4.6844	0.12750	0.314:0.2967:0.3893:0.0	.	.	.	.	S	1275	.	.	A	+	1	0	ARMCX4	100633743	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.715000	0.01880	-0.311000	0.08754	0.490000	0.48405	GCT	ARMCX4	-	NULL	ENSG00000196440		0.597	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	46	0	G	NM_001256155		100747087	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	7.84	47	4	SNP	0.004	T
ASNA1	439	genome.wustl.edu	37	19	12856427	12856427	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:12856427G>T	ENST00000591090.1	+	5	565	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	ASNA1_ENST00000357332.3_Missense_Mutation_p.V155L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.V155L(1)		endometrium(1)|lung(6)|ovary(3)	10						CCTCAGGCTGGTGAAGGGCAT	0.667																																																	1	Substitution - Missense(1)	lung(1)											70.0	71.0	70.0					19																	12856427		2203	4300	6503	SO:0001583	missense	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.463G>T	19.37:g.12856427G>T	ENSP00000466379:p.Val155Leu			Missense_Mutation	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	p.V155L	ENST00000591090.1	37	c.463	CCDS32920.1	19	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884801	0.72410	.	.	ENSG00000198356	ENST00000357332	T	0.33865	1.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.52011	1.625	0.80722	D	1	P;B	0.47604	0.898;0.034	P;B	0.47346	0.544;0.074	T	0.42515	-0.9447	10	0.59425	D	0.04	-38.2276	16.7241	0.85417	0.0:0.0:1.0:0.0	.	137;155	E7EVN0;O43681	.;ASNA_HUMAN	L	155	ENSP00000349887:V155L	ENSP00000349887:V155L	V	+	1	0	ASNA1	12717427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.937000	0.92936	2.233000	0.73108	0.655000	0.94253	GTG	ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	ENSG00000198356		0.667	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1		0.00	34	0	G	NM_004317		12856427	+1			no_errors	ENST00000357332	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
ATP7B	540	genome.wustl.edu	37	13	52511786	52511786	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:52511786C>T	ENST00000242839.4	-	18	3885	c.3729G>A	c.(3727-3729)gtG>gtA	p.V1243V	ATP7B_ENST00000400370.3_Silent_p.V813V|ATP7B_ENST00000418097.2_Silent_p.V1178V|ATP7B_ENST00000344297.5_Silent_p.V1036V|ATP7B_ENST00000417240.2_Silent_p.V454V|ATP7B_ENST00000400366.3_Silent_p.V1132V|ATP7B_ENST00000448424.2_Silent_p.V1165V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1243					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCGAAGGCAGCACCTCTGCAA	0.527									Wilson disease																																								0													83.0	85.0	84.0					13																	52511786		2030	4191	6221	SO:0001819	synonymous_variant	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3729G>A	13.37:g.52511786C>T			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.V1243	ENST00000242839.4	37	c.3729	CCDS41892.1	13																																																																																			ATP7B	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000123191		0.527	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1		0.00	63	0	C	NM_000053		52511786	-1			no_errors	ENST00000242839	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.989	T
ATRN	8455	genome.wustl.edu	37	20	3543940	3543940	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:3543940C>T	ENST00000262919.5	+	10	1784	c.1716C>T	c.(1714-1716)aaC>aaT	p.N572N	ATRN_ENST00000446916.2_Silent_p.N572N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	572					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						TTGGAGGAAACACACACAATG	0.423																																																	0													191.0	155.0	167.0					20																	3543940		2203	4300	6503	SO:0001819	synonymous_variant	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.1716C>T	20.37:g.3543940C>T			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	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.N572	ENST00000262919.5	37	c.1716	CCDS13053.1	20																																																																																			ATRN	-	NULL	ENSG00000088812		0.423	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2		0.00	92	0	C	NM_139321		3543940	+1			no_errors	ENST00000262919	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
AUNIP	79000	genome.wustl.edu	37	1	26164014	26164014	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:26164014A>G	ENST00000374298.3	-	2	164	c.110T>C	c.(109-111)cTa>cCa	p.L37P	AUNIP_ENST00000538789.1_Missense_Mutation_p.L37P|AUNIP_ENST00000481602.1_5'UTR	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	37					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AAGGAGTGTTAGCATTTTGGT	0.368																																																	0													112.0	112.0	112.0					1																	26164014		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.110T>C	1.37:g.26164014A>G	ENSP00000363416:p.Leu37Pro		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.L37P	ENST00000374298.3	37	c.110	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674968	0.29783	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.58652	0.32;0.32	5.28	4.16	0.48862	.	0.372480	0.19452	N	0.113902	T	0.46464	0.1394	L	0.35854	1.095	0.54753	D	0.999987	B	0.32203	0.36	B	0.34385	0.181	T	0.44283	-0.9338	10	0.56958	D	0.05	0.6161	7.7549	0.28919	0.9071:0.0:0.0929:0.0	.	37	Q9H7T9	CA135_HUMAN	P	37	ENSP00000443647:L37P;ENSP00000363416:L37P	ENSP00000363416:L37P	L	-	2	0	C1orf135	26036601	0.968000	0.33430	0.992000	0.48379	0.750000	0.42670	1.295000	0.33377	1.033000	0.39918	0.533000	0.62120	CTA	AUNIP	-	NULL	ENSG00000127423		0.368	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	-	0.00	56	0	A	NM_024037		26164014	-1	tier1	-	no_errors	ENST00000538789	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.953	G
BNIP3	664	genome.wustl.edu	37	10	133786618	133786618	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:133786618G>A	ENST00000368636.4	-	3	326	c.202C>T	c.(202-204)Cct>Tct	p.P68S	BNIP3_ENST00000540159.1_Missense_Mutation_p.P68S	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	68					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGCGAGCGAGGTGGGCTTGGC	0.463																																																	0													206.0	192.0	197.0					10																	133786618		2203	4300	6503	SO:0001583	missense	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.202C>T	10.37:g.133786618G>A	ENSP00000357625:p.Pro68Ser		O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.P68S	ENST00000368636.4	37	c.202	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032666	0.75504	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.19	4.19	0.49359	.	0.053899	0.85682	D	0.000000	T	0.55657	0.1934	L	0.33753	1.03	0.58432	D	0.999999	P	0.49559	0.925	P	0.48270	0.572	T	0.61720	-0.7005	9	0.54805	T	0.06	-9.6806	17.4294	0.87535	0.0:0.0:1.0:0.0	.	68	Q12983	BNIP3_HUMAN	S	68	.	ENSP00000357625:P68S	P	-	1	0	BNIP3	133636608	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.643000	0.74334	2.273000	0.75805	0.655000	0.94253	CCT	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.463	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0.00	93	0	G			133786618	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	missense	28.28	71	28	SNP	1.000	A
BRCA2	675	genome.wustl.edu	37	13	32971139	32971139	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:32971139G>A	ENST00000380152.3	+	26	9839	c.9606G>A	c.(9604-9606)ccG>ccA	p.P3202P	BRCA2_ENST00000544455.1_Silent_p.P3202P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3202					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTCAGGGCCGTACACTGCTC	0.393			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													247.0	240.0	242.0					13																	32971139		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9606G>A	13.37:g.32971139G>A			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.P3202	ENST00000380152.3	37	c.9606	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0.00	82	0	G	NM_000059		32971139	+1			no_errors	ENST00000380152	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.000	A
CCDC7	79741	genome.wustl.edu	37	10	33018340	33018340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:33018340G>T	ENST00000375030.2	+	13	1423	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.E261*|C10orf68_ENST00000375028.3_Nonsense_Mutation_p.E237*			Q9H943	CJ068_HUMAN		261										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATCAAGAAGCGAATCTCAAAC	0.254																																																	0																																										SO:0001587	stop_gained	0																														ENST00000375030.2:c.805G>T	10.37:g.33018340G>T	ENSP00000364170:p.Glu269*		B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	NULL	p.E261*	ENST00000375030.2	37	c.781		10	.	.	.	.	.	.	.	.	.	.	.	12.25	1.881748	0.33255	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.0	-3.99	0.04069	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	1.292	0.02062	0.3263:0.2035:0.3375:0.1326	.	.	.	.	X	261;269;237;261;209	.	ENSP00000303710:E261X	E	+	1	0	C10orf68	33058346	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.439000	0.06897	-1.544000	0.01721	-2.002000	0.00443	GAA	C10orf68	-	NULL	ENSG00000150076		0.254	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0.00	89	0	G			33018340	+1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	nonsense	22.47	69	20	SNP	0.000	T
C3orf80	401097	genome.wustl.edu	37	3	159943827	159943829	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	CGA	CGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:159943827_159943829delCGA	ENST00000326474.3	+	1	405_407	c.405_407delCGA	c.(403-408)cccgac>ccc	p.D140del	RP11-431I8.1_ENST00000490320.1_RNA|IL12A-AS1_ENST00000486168.1_RNA	NM_001168214.1	NP_001161686.1	F5H4A9	CC080_HUMAN	chromosome 3 open reading frame 80	140						integral component of membrane (GO:0016021)											cggggccgcccgACGACGACGAC	0.813																																																	0										3,857		0,3,427						3.2	1.0			1	17,1737		6,5,866	no	coding	C3orf80	NM_001168214.1		6,8,1293	A1A1,A1R,RR		0.9692,0.3488,0.7651				20,2594				SO:0001651	inframe_deletion	0				CCDS54667.1	3q25.33	2011-08-15			ENSG00000180044	ENSG00000180044			40048	protein-coding gene	gene with protein product							Standard	NM_001168214		Approved		uc021xgp.1	F5H4A9		ENST00000326474.3:c.405_407delCGA	3.37:g.159943836_159943838delCGA	ENSP00000313324:p.Asp140del		Q8N5S4	In_Frame_Del	DEL	NULL	p.D139in_frame_del	ENST00000326474.3	37	c.405_407	CCDS54667.1	3																																																																																			C3orf80	-	NULL	ENSG00000180044		0.813	C3orf80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf80	HGNC	protein_coding			0.00	10	0	CGA			159943829	+1	tier1		no_errors	ENST00000326474	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	0.402:0.918:0.943	-
C6orf58	352999	genome.wustl.edu	37	6	127911356	127911356	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:127911356C>T	ENST00000329722.7	+	5	811	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	267						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAAGGGCATGCCACCACGAAT	0.413																																																	0													168.0	166.0	167.0					6																	127911356		2203	4300	6503	SO:0001583	missense	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.799C>T	6.37:g.127911356C>T	ENSP00000328069:p.Pro267Ser		B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.P267S	ENST00000329722.7	37	c.799	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799688	0.31869	.	.	ENSG00000184530	ENST00000329722	T	0.70749	-0.51	5.01	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.87547	2.89	0.40038	D	0.97561	D	0.69078	0.997	D	0.63283	0.913	T	0.79266	-0.1874	10	0.87932	D	0	-27.7239	8.1391	0.31071	0.0:0.8232:0.0:0.1768	.	267	Q6P5S2	CF058_HUMAN	S	267	ENSP00000328069:P267S	ENSP00000328069:P267S	P	+	1	0	C6orf58	127953049	0.981000	0.34729	0.402000	0.26371	0.201000	0.24016	1.351000	0.34022	0.698000	0.31739	0.655000	0.94253	CCA	C6orf58	-	pfam_DUF781	ENSG00000184530		0.413	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	-	0.00	62	0	C	NM_001010905		127911356	+1	tier1	-	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.820	T
C9orf3	84909	genome.wustl.edu	37	9	97690782	97690782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:97690782C>T	ENST00000375315.2	+	6	1630	c.1630C>T	c.(1630-1632)Caa>Taa	p.Q544*	RP11-54O15.3_ENST00000439872.1_RNA|C9orf3_ENST00000277198.2_Nonsense_Mutation_p.Q544*|C9orf3_ENST00000297979.5_Intron|C9orf3_ENST00000395357.2_Nonsense_Mutation_p.Q164*|C9orf3_ENST00000473778.1_3'UTR	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	544					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGACGAGATGCAATGCTCCCC	0.602																																																	0																																										SO:0001587	stop_gained	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1630C>T	9.37:g.97690782C>T	ENSP00000364464:p.Gln544*		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.Q544*	ENST00000375315.2	37	c.1630	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202439	0.38905	.	.	ENSG00000148120	ENST00000277198;ENST00000375315;ENST00000428313;ENST00000395357	.	.	.	5.14	5.14	0.70334	.	0.710539	0.13535	N	0.380649	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.9692	14.0554	0.64764	0.1507:0.8493:0.0:0.0	.	.	.	.	X	544;544;326;164	.	ENSP00000277198:Q544X	Q	+	1	0	C9orf3	96730603	0.995000	0.38212	0.185000	0.23176	0.005000	0.04900	3.249000	0.51437	2.837000	0.97791	0.655000	0.94253	CAA	C9orf3	-	NULL	ENSG00000148120		0.602	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		-	0.00	74	0	C	NM_032823		97690782	+1	tier1	-	no_errors	ENST00000375315	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	0.998	T
CAMSAP2	23271	genome.wustl.edu	37	1	200818158	200818158	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:200818158G>C	ENST00000236925.4	+	12	2343	c.2294G>C	c.(2293-2295)aGg>aCg	p.R765T	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R754T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R738T			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	765					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.R754M(1)									GTGCATCTTAGGATGAAACTA	0.463																																																	1	Substitution - Missense(1)	ovary(1)											74.0	80.0	78.0					1																	200818158		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2294G>C	1.37:g.200818158G>C	ENSP00000236925:p.Arg765Thr		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R765T	ENST00000236925.4	37	c.2294		1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950697	0.53186	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70045	-0.45;-0.45;-0.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.68317	2.08	0.58432	D	0.999994	D;P;D	0.56035	0.974;0.911;0.969	P;P;P	0.56916	0.678;0.649;0.809	T	0.75323	-0.3358	10	0.42905	T	0.14	-17.2843	13.4879	0.61377	0.0752:0.0:0.9248:0.0	.	738;765;754	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	T	754;738;765	ENSP00000351684:R754T;ENSP00000416800:R738T;ENSP00000236925:R765T	ENSP00000236925:R765T	R	+	2	0	CAMSAP1L1	199084781	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	4.948000	0.63590	2.527000	0.85204	0.484000	0.47621	AGG	CAMSAP2	-	NULL	ENSG00000118200		0.463	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0.00	31	0	G	NM_203459		200818158	+1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	61.76	13	21	SNP	1.000	C
CAPN12	147968	genome.wustl.edu	37	19	39226939	39226939	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:39226939G>A	ENST00000328867.4	-	12	1702	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.S316F	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	465	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGCGCGGGGAATCCCAGAG	0.776																																																	0													2.0	2.0	2.0					19																	39226939		1123	2345	3468	SO:0001583	missense	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1394C>T	19.37:g.39226939G>A	ENSP00000331636:p.Ser465Phe			Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S465F	ENST00000328867.4	37	c.1394	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	g	18.00	3.526470	0.64860	.	.	ENSG00000182472	ENST00000328867	D	0.87809	-2.3	3.59	3.59	0.41128	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	2.037290	0.01902	N	0.039255	D	0.85239	0.5651	L	0.39245	1.2	0.29399	N	0.862094	P	0.41393	0.748	B	0.40444	0.329	T	0.76019	-0.3112	10	0.56958	D	0.05	.	10.8694	0.46875	0.0:0.0:1.0:0.0	.	465	Q6ZSI9	CAN12_HUMAN	F	465	ENSP00000331636:S465F	ENSP00000331636:S465F	S	-	2	0	CAPN12	43918779	0.974000	0.33945	0.993000	0.49108	0.785000	0.44390	2.336000	0.43938	2.005000	0.58758	0.479000	0.44913	TCC	CAPN12	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000182472		0.776	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	-	0.00	15	0	G			39226939	-1	tier1	-	no_errors	ENST00000328867	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A
CASP2	835	genome.wustl.edu	37	7	142997499	142997501	+	Intron	DEL	CTT	CTT	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:142997499_142997501delCTT	ENST00000310447.5	+	8	1208				CASP2_ENST00000493642.1_3'UTR|RN7SL481P_ENST00000477764.2_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase						aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGGGCACCTCCTTCTGTTCACTG	0.601																																																	0																																										SO:0001627	intron_variant	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.967+112CTT>-	7.37:g.142997499_142997501delCTT			A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	RNA	DEL	-	NULL	ENST00000310447.5	37	NULL	CCDS5879.1	7																																																																																			CASP2	-	-	ENSG00000106144		0.601	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3		0.00	42	0	CTT	NM_032982		142997501	+1	tier1		no_errors	ENST00000493642	ensembl	human	known	74_37	rna	39.22	31	20	DEL	1.000:1.000:1.000	-
CATSPER1	117144	genome.wustl.edu	37	11	65793402	65793402	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:65793402C>T	ENST00000312106.5	-	1	586	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	150	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TTGGGGTCTGCCATGGTGAGA	0.567																																																	0													62.0	54.0	56.0					11																	65793402		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.449G>A	11.37:g.65793402C>T	ENSP00000309052:p.Gly150Asp		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.G150D	ENST00000312106.5	37	c.449	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	4.529	0.098145	0.08681	.	.	ENSG00000175294	ENST00000312106	D	0.98234	-4.81	1.4	-1.91	0.07641	.	3.944920	0.00822	N	0.001580	D	0.95579	0.8563	L	0.47716	1.5	0.09310	N	1	P	0.37466	0.596	B	0.34722	0.188	D	0.90903	0.4770	10	0.34782	T	0.22	0.7865	4.6854	0.12755	0.0:0.453:0.0:0.547	.	150	Q8NEC5	CTSR1_HUMAN	D	150	ENSP00000309052:G150D	ENSP00000309052:G150D	G	-	2	0	CATSPER1	65549978	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.831000	0.04405	-0.559000	0.06110	0.313000	0.20887	GGC	CATSPER1	-	NULL	ENSG00000175294		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1		0.00	22	0	C	NM_053054		65793402	-1			no_errors	ENST00000312106	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T
CCDC64B	146439	genome.wustl.edu	37	16	3085278	3085278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:3085278G>A	ENST00000572449.1	-	2	282	c.220C>T	c.(220-222)Cga>Tga	p.R74*	CCDC64B_ENST00000573514.1_5'Flank|CCDC64B_ENST00000389347.4_Nonsense_Mutation_p.R74*|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	74										breast(1)|endometrium(2)|large_intestine(1)	4						TCTTCATTTCGCTCCAGAAGC	0.657																																																	0													6.0	7.0	7.0					16																	3085278		1856	3993	5849	SO:0001587	stop_gained	0			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.220C>T	16.37:g.3085278G>A	ENSP00000459043:p.Arg74*		Q658L9	Nonsense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.R74*	ENST00000572449.1	37	c.220	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	g	36	5.715804	0.96830	.	.	ENSG00000162069	ENST00000389347	.	.	.	5.08	4.1	0.47936	.	0.138033	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0642	10.4977	0.44788	0.0:0.0:0.6474:0.3526	.	.	.	.	X	74	.	ENSP00000373998:R74X	R	-	1	2	CCDC64B	3025279	0.983000	0.35010	1.000000	0.80357	0.924000	0.55760	2.401000	0.44513	1.092000	0.41356	0.457000	0.33378	CGA	CCDC64B	-	NULL	ENSG00000162069		0.657	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	-	0.00	41	0	G			3085278	-1	tier1	-	no_errors	ENST00000389347	ensembl	human	known	74_37	nonsense	75.00	3	9	SNP	1.000	A
CCDC92	80212	genome.wustl.edu	37	12	124427302	124427302	+	Nonsense_Mutation	SNP	G	G	T	rs143142884		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:124427302G>T	ENST00000238156.3	-	4	566	c.212C>A	c.(211-213)tCg>tAg	p.S71*	CCDC92_ENST00000545891.1_Nonsense_Mutation_p.S54*|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_Nonsense_Mutation_p.S54*	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	71						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGTCTGTTCCGAACTTTTGAC	0.383																																																	0													188.0	167.0	174.0					12																	124427302		2203	4300	6503	SO:0001587	stop_gained	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.212C>A	12.37:g.124427302G>T	ENSP00000238156:p.Ser71*		B3KNQ0|Q9H697	Nonsense_Mutation	SNP	NULL	p.S71*	ENST00000238156.3	37	c.212	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	G	57	28.862039	0.99974	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	.	.	.	5.67	2.77	0.32553	.	0.309544	0.36482	N	0.002565	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8527	7.8342	0.29360	0.1491:0.1345:0.7164:0.0	.	.	.	.	X	71;54;54;71;54;71	.	ENSP00000238156:S71X	S	-	2	0	CCDC92	122993255	1.000000	0.71417	0.133000	0.22050	0.951000	0.60555	3.488000	0.53229	0.294000	0.22547	0.591000	0.81541	TCG	CCDC92	-	NULL	ENSG00000119242		0.383	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	-	0.00	70	0	G	NM_025140		124427302	-1	tier1	-	no_errors	ENST00000238156	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.962	T
CCL28	56477	genome.wustl.edu	37	5	43381972	43381972	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:43381972G>T	ENST00000361115.4	-	3	448	c.374C>A	c.(373-375)aCt>aAt	p.T125N	CCL28_ENST00000513525.1_Missense_Mutation_p.T78N	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	125					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						CTAATAAGGAGTTTTATGGCC	0.398																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)												0													264.0	244.0	251.0					5																	43381972		2203	4300	6503	SO:0001583	missense	0			AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.374C>A	5.37:g.43381972G>T	ENSP00000354416:p.Thr125Asn		D7RIE7	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.T125N	ENST00000361115.4	37	c.374	CCDS3944.1	5	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755012	0.49362	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.34667	1.78;1.35	5.29	3.51	0.40186	.	0.918507	0.09155	N	0.840924	T	0.25531	0.0621	L	0.27053	0.805	0.09310	N	0.999997	P	0.44627	0.839	B	0.38562	0.276	T	0.11842	-1.0571	10	0.72032	D	0.01	-3.2249	7.1608	0.25662	0.0901:0.172:0.7379:0.0	.	125	Q9NRJ3	CCL28_HUMAN	N	125;78	ENSP00000354416:T125N;ENSP00000422369:T78N	ENSP00000354416:T125N	T	-	2	0	CCL28	43417729	0.001000	0.12720	0.001000	0.08648	0.476000	0.33039	0.378000	0.20569	0.793000	0.33875	0.650000	0.86243	ACT	CCL28	-	NULL	ENSG00000151882		0.398	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL28	HGNC	protein_coding	OTTHUMT00000211631.2	-	0.00	131	0	G	NM_148672		43381972	-1	tier1	-	no_errors	ENST00000361115	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.027	T
CCNA1	8900	genome.wustl.edu	37	13	37015357	37015357	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:37015357A>G	ENST00000255465.4	+	7	1465	c.1201A>G	c.(1201-1203)Aag>Gag	p.K401E	CCNA1_ENST00000418263.1_Missense_Mutation_p.K400E|CCNA1_ENST00000440264.1_Missense_Mutation_p.K357E|CCNA1_ENST00000449823.1_Missense_Mutation_p.K357E			P78396	CCNA1_HUMAN	cyclin A1	401					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACTGTGAACAAGCACTTTTG	0.403																																																	0													127.0	113.0	118.0					13																	37015357		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1201A>G	13.37:g.37015357A>G	ENSP00000255465:p.Lys401Glu		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.K401E	ENST00000255465.4	37	c.1201	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	A	3.699	-0.062022	0.07317	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.19	3.98	0.46160	Cyclin, C-terminal (1);Cyclin-like (3);	0.420489	0.28187	N	0.016279	T	0.17916	0.0430	L	0.32530	0.975	0.24214	N	0.995464	B;B	0.16396	0.006;0.017	B;B	0.19666	0.015;0.026	T	0.17410	-1.0370	10	0.09590	T	0.72	.	12.6481	0.56746	0.8157:0.1843:0.0:0.0	.	400;401	P78396-2;P78396	.;CCNA1_HUMAN	E	357;357;400;401	ENSP00000400666:K357E;ENSP00000409873:K357E;ENSP00000396479:K400E;ENSP00000255465:K401E	ENSP00000255465:K401E	K	+	1	0	CCNA1	35913357	0.148000	0.22702	1.000000	0.80357	0.928000	0.56348	1.857000	0.39399	2.076000	0.62316	0.460000	0.39030	AAG	CCNA1	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.403	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0.00	48	0	A	NM_003914		37015357	+1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.952	G
CCT6B	10693	genome.wustl.edu	37	17	33281609	33281609	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:33281609G>T	ENST00000314144.5	-	4	461	c.346C>A	c.(346-348)Cct>Act	p.P116T	CCT6B_ENST00000421975.3_Missense_Mutation_p.P116T|CCT6B_ENST00000436961.3_Missense_Mutation_p.P71T	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	116					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATTATTCTAGGGTGCAGGCCC	0.318																																																	0													79.0	74.0	76.0					17																	33281609		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.346C>A	17.37:g.33281609G>T	ENSP00000327191:p.Pro116Thr		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.P116T	ENST00000314144.5	37	c.346	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717199	0.48622	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.25085	1.82;1.82;1.82	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	H	0.97564	4.03	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.80764	0.988;0.994;0.986	T	0.78760	-0.2078	10	0.87932	D	0	-16.4864	16.2065	0.82133	0.0:0.0:1.0:0.0	.	71;116;116	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	T	116;116;71	ENSP00000398044:P116T;ENSP00000327191:P116T;ENSP00000400917:P71T	ENSP00000327191:P116T	P	-	1	0	CCT6B	30305722	1.000000	0.71417	0.930000	0.37139	0.033000	0.12548	8.960000	0.93117	2.770000	0.95276	0.557000	0.71058	CCT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.318	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	-	0.00	70	0	G	NM_006584		33281609	-1	tier1	-	no_errors	ENST00000314144	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.949	T
CFLAR	8837	genome.wustl.edu	37	2	202028664	202028664	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:202028664C>A	ENST00000309955.3	+	10	1926	c.1411C>A	c.(1411-1413)Ctg>Atg	p.L471M	CFLAR_ENST00000341582.6_Missense_Mutation_p.L436M|CFLAR_ENST00000443227.1_Missense_Mutation_p.L375M|CFLAR_ENST00000423241.2_Missense_Mutation_p.L471M|CFLAR_ENST00000355558.4_Silent_p.L300L	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	471	Interaction with TRAF1 and TRAF2.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GCAGCACACTCTGAGAAAGAA	0.478																																					Pancreas(16;548 657 22190 32864 42338)												0													83.0	79.0	80.0					2																	202028664		2203	4300	6503	SO:0001583	missense	0			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1411C>A	2.37:g.202028664C>A	ENSP00000312455:p.Leu471Met		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20	p.L471M	ENST00000309955.3	37	c.1411	CCDS2337.1	2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414687	0.42817	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341582;ENST00000423241	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.62	4.75	0.60458	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.64402	D	0.000001	T	0.35248	0.0925	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.22103	-1.0226	10	0.87932	D	0	-8.4668	12.5761	0.56365	0.0:0.9222:0.0:0.0778	.	436;471	O15519-8;O15519	.;CFLAR_HUMAN	M	471;375;436;471	ENSP00000312455:L471M;ENSP00000413270:L375M;ENSP00000345807:L436M;ENSP00000399420:L471M	ENSP00000312455:L471M	L	+	1	2	CFLAR	201736909	0.847000	0.29606	0.983000	0.44433	0.025000	0.11179	1.368000	0.34216	1.381000	0.46364	0.561000	0.74099	CTG	CFLAR	-	smart_Pept_C14A_p45_core	ENSG00000003402		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR	HGNC	protein_coding	OTTHUMT00000256276.3	-	0.00	27	0	C	NM_003879		202028664	+1	tier1	-	no_errors	ENST00000309955	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.986	A
CHD9	80205	genome.wustl.edu	37	16	53243679	53243679	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:53243679delA	ENST00000398510.3	+	2	1825	c.1738delA	c.(1738-1740)aaafs	p.K581fs	CHD9_ENST00000447540.1_Frame_Shift_Del_p.K581fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.K581fs|CHD9_ENST00000566029.1_Frame_Shift_Del_p.K581fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	581	Lys-rich.				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)				CAAAGACAGCAAAAAAACAAA	0.328																																																	0													31.0	30.0	30.0					16																	53243679		1814	4081	5895	SO:0001589	frameshift_variant	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.1738delA	16.37:g.53243679delA	ENSP00000381522:p.Lys581fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	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.T582fs	ENST00000398510.3	37	c.1738		16																																																																																			CHD9	-	NULL	ENSG00000177200		0.328	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0.00	19	0	A	NM_025134		53243679	+1	tier1		no_errors	ENST00000398510	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-
CHRNG	1146	genome.wustl.edu	37	2	233407776	233407779	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	CTTC	CTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:233407776_233407779delCTTC	ENST00000389494.3	+	7	810_813	c.789_792delCTTC	c.(787-792)cacttcfs	p.HF263fs	CHRNG_ENST00000389492.3_Frame_Shift_Del_p.HF211fs	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	263					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCCTCATCCACTTCCTTCCTGCCA	0.608																																																	0																																										SO:0001589	frameshift_variant	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.789_792delCTTC	2.37:g.233407780_233407783delCTTC	ENSP00000374145:p.His263fs		B3KWM8|Q14DU4|Q53RG2	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.A267fs	ENST00000389494.3	37	c.789_792	CCDS33400.1	2																																																																																			CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000196811		0.608	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1		0.00	46	0	CTTC	NM_005199		233407779	+1	tier1		no_errors	ENST00000389494	ensembl	human	known	74_37	frame_shift_del	25.37	50	17	DEL	1.000:1.000:1.000:1.000	-
CLCA2	9635	genome.wustl.edu	37	1	86909573	86909573	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:86909573A>G	ENST00000370565.4	+	10	1754	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	531					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GTTACGTGGCAGGCCAGTGGT	0.388																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													148.0	135.0	139.0					1																	86909573		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1592A>G	1.37:g.86909573A>G	ENSP00000359596:p.Gln531Arg		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q531R	ENST00000370565.4	37	c.1592	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	A	7.202	0.593738	0.13875	.	.	ENSG00000137975	ENST00000370565	T	0.28454	1.61	5.66	3.31	0.37934	Domain of unknown function DUF1973 (1);	0.154869	0.43579	D	0.000554	T	0.10594	0.0259	M	0.72894	2.215	0.21020	N	0.9998	B	0.16603	0.018	B	0.21917	0.037	T	0.36768	-0.9734	10	0.16896	T	0.51	-0.0672	3.7002	0.08379	0.6607:0.1373:0.0705:0.1314	.	531	Q9UQC9	CLCA2_HUMAN	R	531	ENSP00000359596:Q531R	ENSP00000359596:Q531R	Q	+	2	0	CLCA2	86682161	0.478000	0.25917	0.258000	0.24420	0.040000	0.13550	1.601000	0.36773	0.414000	0.25790	0.528000	0.53228	CAG	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000137975		0.388	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0.00	64	0	A	NM_006536		86909573	+1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	43.10	33	25	SNP	0.413	G
CLRN3	119467	genome.wustl.edu	37	10	129676619	129676619	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:129676619C>G	ENST00000368671.3	-	3	637	c.475G>C	c.(475-477)Gag>Cag	p.E159Q		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	159						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGGAACAACTCTTCGGAGAGT	0.463																																																	0													178.0	142.0	154.0					10																	129676619		2203	4300	6503	SO:0001583	missense	0			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.475G>C	10.37:g.129676619C>G	ENSP00000357660:p.Glu159Gln		Q6MZX8	Missense_Mutation	SNP	NULL	p.E159Q	ENST00000368671.3	37	c.475	CCDS7656.1	10	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217345	0.22373	.	.	ENSG00000180745	ENST00000368671	T	0.69040	-0.37	4.48	2.6	0.31112	.	0.480519	0.19242	N	0.119123	T	0.60534	0.2276	L	0.47716	1.5	0.09310	N	1	P;P	0.48016	0.846;0.904	P;B	0.47299	0.543;0.408	T	0.49234	-0.8961	10	0.28530	T	0.3	.	8.0247	0.30430	0.0:0.8064:0.0:0.1936	.	159;91	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	Q	159	ENSP00000357660:E159Q	ENSP00000357660:E159Q	E	-	1	0	CLRN3	129566609	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.159000	0.10056	0.500000	0.27991	0.650000	0.86243	GAG	CLRN3	-	NULL	ENSG00000180745		0.463	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	-	0.00	54	0	C	NM_152311		129676619	-1	tier1	-	no_errors	ENST00000368671	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.002	G
CLSTN1	22883	genome.wustl.edu	37	1	9804495	9804495	+	Missense_Mutation	SNP	C	C	G	rs377706199		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:9804495C>G	ENST00000377298.4	-	8	1984	c.1192G>C	c.(1192-1194)Ggc>Cgc	p.G398R	CLSTN1_ENST00000361311.4_Missense_Mutation_p.G388R|CLSTN1_ENST00000377288.3_Missense_Mutation_p.G398R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	398					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTCTTCCTGCCGAATGGCCCA	0.567																																																	0								C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	100.0	81.0	87.0		1192,1162	4.6	0.3	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	125,125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	398/982,388/972	9804495	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1192G>C	1.37:g.9804495C>G	ENSP00000366513:p.Gly398Arg		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G398R	ENST00000377298.4	37	c.1192	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	4.424	0.078351	0.08485	0.0	1.16E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.55	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.239107	0.41605	D	0.000856	T	0.66277	0.2773	N	0.12182	0.205	0.43179	D	0.994999	D;D;D	0.59357	0.985;0.981;0.985	D;P;D	0.63033	0.91;0.855;0.91	T	0.63585	-0.6604	10	0.06757	T	0.87	-44.2982	8.9695	0.35897	0.0:0.7885:0.0:0.2115	.	398;388;398	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	R	398;388;218;398;398	ENSP00000366513:G398R;ENSP00000354997:G388R;ENSP00000401934:G218R;ENSP00000366502:G398R	ENSP00000354997:G388R	G	-	1	0	CLSTN1	9727082	0.983000	0.35010	0.311000	0.25182	0.110000	0.19582	2.543000	0.45752	1.336000	0.45506	0.655000	0.94253	GGC	CLSTN1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000171603		0.567	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	-	0.00	41	0	C			9804495	-1	tier1	-	no_errors	ENST00000377298	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.700	G
CMYA5	202333	genome.wustl.edu	37	5	79057727	79057727	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:79057727C>T	ENST00000446378.2	+	8	11385	c.11354C>T	c.(11353-11355)gCt>gTt	p.A3785V	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3785	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGGTGATGGCTGTGAACTTC	0.463																																																	0													110.0	109.0	110.0					5																	79057727		1998	4156	6154	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11354C>T	5.37:g.79057727C>T	ENSP00000394770:p.Ala3785Val		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A3785V	ENST00000446378.2	37	c.11354	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.222001	0.95139	.	.	ENSG00000164309	ENST00000446378	T	0.68624	-0.34	5.45	5.45	0.79879	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81494	0.4834	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83007	-0.0174	9	0.87932	D	0	.	18.9048	0.92456	0.0:1.0:0.0:0.0	.	3785	Q8N3K9	CMYA5_HUMAN	V	3785	ENSP00000394770:A3785V	ENSP00000394770:A3785V	A	+	2	0	CMYA5	79093483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.225000	0.78051	2.561000	0.86390	0.655000	0.94253	GCT	CMYA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164309		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0.00	71	0	C	NM_153610		79057727	+1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T
CNTN5	53942	genome.wustl.edu	37	11	100170048	100170048	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:100170048T>A	ENST00000524871.1	+	20	2830	c.2540T>A	c.(2539-2541)tTt>tAt	p.F847Y	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.F847Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.F847Y|CNTN5_ENST00000527185.1_Missense_Mutation_p.F847Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.F773Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	847	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTACTCCCTTTGAAGTGAAA	0.408																																																	0													101.0	96.0	97.0					11																	100170048		1844	4080	5924	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2540T>A	11.37:g.100170048T>A	ENSP00000435637:p.Phe847Tyr		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F847Y	ENST00000524871.1	37	c.2540	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213608	0.79352	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.16066	0.365	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	T	0.38650	-0.9651	10	0.33940	T	0.23	.	15.0047	0.71501	0.0:0.0:0.0:1.0	.	773;847	O94779-2;O94779	.;CNTN5_HUMAN	Y	847;847;847;773;847	ENSP00000433575:F847Y;ENSP00000436185:F847Y;ENSP00000435637:F847Y;ENSP00000393229:F773Y;ENSP00000279463:F847Y	ENSP00000279463:F847Y	F	+	2	0	CNTN5	99675258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.963000	0.87922	2.149000	0.67028	0.528000	0.53228	TTT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.408	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	90	0	T	NM_014361		100170048	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	A
COL18A1	80781	genome.wustl.edu	37	21	46925782	46925782	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr21:46925782C>T	ENST00000359759.4	+	36	4384	c.4363C>T	c.(4363-4365)Ctg>Ttg	p.L1455L	COL18A1_ENST00000355480.5_Silent_p.L1220L|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1040L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1455	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAGGCCATGCTGGGCCAGGT	0.672																																																	0													59.0	66.0	64.0					21																	46925782		2026	4166	6192	SO:0001819	synonymous_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4363C>T	21.37:g.46925782C>T			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.L1455	ENST00000359759.4	37	c.4363		21																																																																																			COL18A1	-	pfam_Collagenase_NC10/endostatin	ENSG00000182871		0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0.00	72	0	C			46925782	+1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.620	T
COL2A1	1280	genome.wustl.edu	37	12	48367957	48367957	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:48367957A>T	ENST00000380518.3	-	53	4396	c.4232T>A	c.(4231-4233)cTg>cAg	p.L1411Q	COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342Q|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGGATGAGCAGGGCCTTCTT	0.592																																																	0													124.0	100.0	108.0					12																	48367957		2203	4300	6503	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4232T>A	12.37:g.48367957A>T	ENSP00000369889:p.Leu1411Gln		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1411Q	ENST00000380518.3	37	c.4232	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670317	0.67814	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.76316	-1.01;-1.01	5.06	5.06	0.68205	Fibrillar collagen, C-terminal (4);	0.353208	0.22860	N	0.054746	D	0.86948	0.6056	H	0.94886	3.595	0.47245	D	0.99936	P;P	0.42123	0.729;0.771	B;P	0.46208	0.373;0.507	D	0.90348	0.4364	10	0.87932	D	0	.	14.7676	0.69651	1.0:0.0:0.0:0.0	.	1342;1411	P02458-1;P02458	.;CO2A1_HUMAN	Q	1411;1342;1342	ENSP00000369889:L1411Q;ENSP00000338213:L1342Q	ENSP00000338213:L1342Q	L	-	2	0	COL2A1	46654224	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.024000	0.59613	0.533000	0.62120	CTG	COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000139219		0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0.00	46	0	A	NM_001844		48367957	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.998	T
COL5A1	1289	genome.wustl.edu	37	9	137582861	137582861	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:137582861G>T	ENST00000371817.3	+	2	627	c.213G>T	c.(211-213)ccG>ccT	p.P71P	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	71					axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGCCCGGATGTCGCTT	0.557																																																	0													79.0	72.0	74.0					9																	137582861		2203	4300	6503	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.213G>T	9.37:g.137582861G>T			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P71	ENST00000371817.3	37	c.213	CCDS6982.1	9																																																																																			COL5A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000130635		0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	49	0	G	NM_000093		137582861	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.403	T
CTNNA3	29119	genome.wustl.edu	37	10	68138918	68138918	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:68138918G>A	ENST00000433211.2	-	12	1898	c.1724C>T	c.(1723-1725)aCa>aTa	p.T575I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T575I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCAGTACTTGTAAGGAAGTT	0.438																																																	0													124.0	116.0	119.0					10																	68138918		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1724C>T	10.37:g.68138918G>A	ENSP00000389714:p.Thr575Ile			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T575I	ENST00000433211.2	37	c.1724	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144165	0.77888	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37058	1.22;1.22	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000032	T	0.34629	0.0904	L	0.29908	0.895	0.80722	D	1	P	0.43885	0.82	P	0.47528	0.549	T	0.08249	-1.0731	10	0.62326	D	0.03	-13.3355	11.0275	0.47753	0.0839:0.0:0.9161:0.0	.	575	Q9UI47	CTNA3_HUMAN	I	575	ENSP00000389714:T575I;ENSP00000362849:T575I	ENSP00000362849:T575I	T	-	2	0	CTNNA3	67808924	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	6.494000	0.73661	2.775000	0.95449	0.650000	0.86243	ACA	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.438	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0.00	50	0	G	NM_013266		68138918	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A
SYNGAP1	8831	genome.wustl.edu	37	6	33385901	33385901	+	5'Flank	SNP	C	C	T	rs368867314		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:33385901C>T	ENST00000418600.2	+	0	0				CUTA_ENST00000374500.5_Nonsense_Mutation_p.W21*|CUTA_ENST00000607266.1_5'Flank|CUTA_ENST00000374496.3_5'Flank|CUTA_ENST00000492510.1_5'UTR|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_5'Flank|CUTA_ENST00000440279.3_5'Flank|CUTA_ENST00000488478.1_5'Flank|CUTA_ENST00000488034.1_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCGCGCACCATGTGACAGT	0.577																																																	0								C	stop/TRP,,,,	0,4406		0,0,2203	92.0	91.0	91.0		62,,,,	5.4	1.0	6		91	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,utr-5,utr-5,utr-5,utr-5	CUTA	NM_001014433.2,NM_001014837.1,NM_001014838.1,NM_001014840.1,NM_015921.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	21/199,,,,	33385901	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096		6.37:g.33385901C>T	Exception_encountered		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.W21*	ENST00000418600.2	37	c.62	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838096	0.91117	0.0	1.16E-4	ENSG00000112514	ENST00000374500	.	.	.	5.38	5.38	0.77491	.	0.336075	0.24363	N	0.039168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.4824	14.5099	0.67776	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	.	W	-	2	0	CUTA	33493879	0.978000	0.34361	0.997000	0.53966	0.732000	0.41865	1.859000	0.39418	2.813000	0.96785	0.655000	0.94253	TGG	CUTA	-	NULL	ENSG00000112514		0.577	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076151.4	-	0.00	94	0	C	XM_166407		33385901	-1	tier1	-	no_errors	ENST00000374500	ensembl	human	known	74_37	nonsense	6.77	124	9	SNP	0.999	T
CT55	54967	genome.wustl.edu	37	X	134303613	134303613	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:134303613C>A	ENST00000276241.6	-	2	410	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	CXorf48_ENST00000344129.2_Missense_Mutation_p.D62Y	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		62										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTCACAACATCACTACTGAAG	0.418																																																	0													126.0	91.0	103.0					X																	134303613		2203	4297	6500	SO:0001583	missense	0																														ENST00000276241.6:c.184G>T	X.37:g.134303613C>A	ENSP00000276241:p.Asp62Tyr		Q9NWY8	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.D62Y	ENST00000276241.6	37	c.184	CCDS35400.1	X	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620094	0.28801	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.27256	1.68;1.68	2.48	0.582	0.17412	Nucleic acid-binding, OB-fold-like (1);	0.206073	0.24431	N	0.038581	T	0.43211	0.1237	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.21177	-1.0253	10	0.87932	D	0	-20.4302	4.2575	0.10724	0.2239:0.6324:0.0:0.1436	.	62	Q8WUE5	CX048_HUMAN	Y	62	ENSP00000276241:D62Y;ENSP00000343893:D62Y	ENSP00000276241:D62Y	D	-	1	0	CXorf48	134131279	0.959000	0.32827	0.003000	0.11579	0.037000	0.13140	1.144000	0.31565	0.040000	0.15660	0.459000	0.35465	GAT	CXorf48	-	superfamily_NA-bd_OB-fold	ENSG00000169551		0.418	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	-	0.00	46	0	C			134303613	-1	tier1	-	no_errors	ENST00000276241	ensembl	human	known	74_37	missense	85.71	5	30	SNP	0.013	A
CYP2R1	120227	genome.wustl.edu	37	11	14901707	14901707	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:14901707G>T	ENST00000334636.5	-	3	1021	c.975C>A	c.(973-975)ttC>ttA	p.F325L	CYP2R1_ENST00000532378.1_Missense_Mutation_p.F92L|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	325					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AAAGGGCCATGAAAAGAATCG	0.413																																					NSCLC(173;1584 2058 26117 29365 41534)												0													61.0	58.0	59.0					11																	14901707		2200	4293	6493	SO:0001583	missense	0			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.975C>A	11.37:g.14901707G>T	ENSP00000334592:p.Phe325Leu		Q2M3H3|Q5RT65	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F325L	ENST00000334636.5	37	c.975	CCDS7818.1	11	.	.	.	.	.	.	.	.	.	.	G	3.700	-0.061742	0.07317	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.76968	-1.06;-1.06	6.17	1.74	0.24563	.	0.298427	0.43260	N	0.000587	T	0.50514	0.1620	N	0.08118	0	0.48452	D	0.999655	B;B;B	0.15930	0.0;0.015;0.015	B;B;B	0.25140	0.002;0.039;0.058	T	0.42498	-0.9448	10	0.02654	T	1	.	6.6828	0.23129	0.3222:0.1305:0.5472:0.0	.	210;325;92	E9PS56;Q6VVX0;E9PJT9	.;CP2R1_HUMAN;.	L	92;325	ENSP00000435484:F92L;ENSP00000334592:F325L	ENSP00000334592:F325L	F	-	3	2	CYP2R1	14858283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.953000	0.40352	0.488000	0.27723	-0.176000	0.13171	TTC	CYP2R1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000186104		0.413	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2R1	HGNC	protein_coding	OTTHUMT00000386985.1	-	0.00	73	0	G	NM_024514		14901707	-1	tier1	-	no_errors	ENST00000334636	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
DAAM1	23002	genome.wustl.edu	37	14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1057	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.R1057C(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAACGGAATCGCAAACGTAT	0.368																																																	1	Substitution - Missense(1)	skin(1)											111.0	106.0	108.0					14																	59835509		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3169C>T	14.37:g.59835509C>T	ENSP00000378557:p.Arg1057Cys		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R1057C	ENST00000395125.1	37	c.3169	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502139	0.85176	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82255	-1.59;-1.56;-1.56	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.049990	0.85682	D	0.000000	D	0.90497	0.7023	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90836	0.4720	10	0.87932	D	0	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1047;1057	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	1047;1057;1057	ENSP00000354162:R1047C;ENSP00000247170:R1057C;ENSP00000378557:R1057C	ENSP00000247170:R1057C	R	+	1	0	DAAM1	58905262	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.770000	0.85390	2.664000	0.90586	0.655000	0.94253	CGC	DAAM1	-	smart_FH2_Formin	ENSG00000100592		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	-	0.00	63	0	C	NM_014992		59835509	+1	tier1	-	no_errors	ENST00000351081	ensembl	human	known	74_37	missense	46.67	32	28	SNP	1.000	T
DBX1	120237	genome.wustl.edu	37	11	20177891	20177891	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:20177891G>A	ENST00000524983.2	-	4	1189	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	DBX1_ENST00000227256.3_Missense_Mutation_p.R340W			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	301					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGCGGGTCCCGCAGGTGCTGG	0.726																																																	0													17.0	22.0	20.0					11																	20177891		2170	4242	6412	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.901C>T	11.37:g.20177891G>A	ENSP00000436881:p.Arg301Trp			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R340W	ENST00000524983.2	37	c.1018		11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938243	0.73557	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91237	-2.81;0.09	5.13	5.13	0.70059	.	0.263157	0.27008	N	0.021394	D	0.86314	0.5903	N	0.24115	0.695	0.27271	N	0.958377	D	0.64830	0.994	P	0.50270	0.636	T	0.81002	-0.1130	10	0.87932	D	0	-19.1781	7.7397	0.28835	0.0826:0.0:0.7539:0.1634	.	340	F8W811	.	W	301;340	ENSP00000436881:R301W;ENSP00000227256:R340W	ENSP00000227256:R340W	R	-	1	2	DBX1	20134467	0.890000	0.30428	0.225000	0.23894	0.840000	0.47671	2.531000	0.45650	2.384000	0.81235	0.655000	0.94253	CGG	DBX1	-	NULL	ENSG00000109851		0.726	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	-	0.00	70	0	G	NM_001029865		20177891	-1	tier1	-	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	33.33	40	21	SNP	0.979	A
DCK	1633	genome.wustl.edu	37	4	71895155	71895155	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr4:71895155G>A	ENST00000286648.5	+	0	1240				DCK_ENST00000504952.1_Missense_Mutation_p.V314I|DCK_ENST00000504730.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GTGTATCTTCGTAACTTCATA	0.313																																																	0													72.0	64.0	66.0					4																	71895155		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.*60G>A	4.37:g.71895155G>A			B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	p.V314I	ENST00000286648.5	37	c.940	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	G	9.007	0.981578	0.18812	.	.	ENSG00000156136	ENST00000504952	D	0.98914	-5.23	5.29	-6.14	0.02111	.	.	.	.	.	D	0.96488	0.8854	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.93421	0.6777	6	0.87932	D	0	.	3.9249	0.09259	0.5897:0.1015:0.1057:0.2031	.	.	.	.	I	314	ENSP00000421508:V314I	ENSP00000421508:V314I	V	+	1	0	DCK	72114019	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.568000	0.05909	-0.990000	0.03481	-1.155000	0.01812	GTA	DCK	-	NULL	ENSG00000156136		0.313	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	-	0.00	82	0	G			71895155	+1	tier1	-	no_errors	ENST00000504952	ensembl	human	novel	74_37	missense	34.62	51	27	SNP	0.000	A
DCSTAMP	81501	genome.wustl.edu	37	8	105361517	105361517	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:105361517A>T	ENST00000297581.2	+	2	786	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Y246F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	246					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GAAAACATCTACATCACCAGA	0.483																																																	0													102.0	97.0	99.0					8																	105361517		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.737A>T	8.37:g.105361517A>T	ENSP00000297581:p.Tyr246Phe		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.Y246F	ENST00000297581.2	37	c.737	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455031	0.43634	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.53640	0.61;0.61	5.76	4.59	0.56863	Dendritic cell-specific transmembrane protein-like (1);	0.115301	0.64402	N	0.000009	T	0.38746	0.1052	L	0.37561	1.115	0.38109	D	0.9375	B	0.25048	0.117	B	0.31812	0.136	T	0.25293	-1.0136	9	.	.	.	-11.7077	10.7676	0.46303	0.851:0.0:0.0:0.149	.	246	Q9H295	TM7S4_HUMAN	F	246	ENSP00000297581:Y246F;ENSP00000428869:Y246F	.	Y	+	2	0	TM7SF4	105430693	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	3.365000	0.52335	0.991000	0.38814	0.454000	0.30748	TAC	DCSTAMP	-	pfam_DC_STAMP-like	ENSG00000164935		0.483	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0.00	84	0	A	NM_030788		105361517	+1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	47.56	43	39	SNP	1.000	T
DDI1	414301	genome.wustl.edu	37	11	103908640	103908640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:103908640G>T	ENST00000302259.3	+	1	1333	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	364							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCTTCCTGAGGGAGAGTTGCC	0.458																																																	0													74.0	74.0	74.0					11																	103908640		2202	4299	6501	SO:0001587	stop_gained	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1090G>T	11.37:g.103908640G>T	ENSP00000302805:p.Gly364*		Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.G364*	ENST00000302259.3	37	c.1090	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.051868	0.93793	.	.	ENSG00000170967	ENST00000302259	.	.	.	4.97	4.06	0.47325	.	0.132511	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.3307	11.1844	0.48646	0.0908:0.0:0.9092:0.0	.	.	.	.	X	364	.	ENSP00000302805:G364X	G	+	1	0	DDI1	103413850	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.034000	0.57289	2.769000	0.95229	0.655000	0.94253	GGA	DDI1	-	NULL	ENSG00000170967		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	-	0.00	77	0	G	NM_001001711		103908640	+1	tier1	-	no_errors	ENST00000302259	ensembl	human	known	74_37	nonsense	50.00	30	30	SNP	1.000	T
DHRS4	10901	genome.wustl.edu	37	14	24423088	24423088	+	Missense_Mutation	SNP	G	G	A	rs1043442		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:24423088G>A	ENST00000313250.5	+	1	294	c.91G>A	c.(91-93)Gca>Aca	p.A31T	DHRS4_ENST00000397073.2_Missense_Mutation_p.A13T|DHRS4_ENST00000558581.1_Missense_Mutation_p.A31T|DHRS4_ENST00000558263.1_Missense_Mutation_p.A31T|DHRS4_ENST00000421831.1_Missense_Mutation_p.A13T|DHRS4_ENST00000382761.3_Missense_Mutation_p.A13T|DHRS4_ENST00000397075.3_Missense_Mutation_p.A31T|DHRS4_ENST00000397074.3_Missense_Mutation_p.A31T|DHRS4_ENST00000559632.1_Missense_Mutation_p.A31T|DHRS4_ENST00000543741.2_Missense_Mutation_p.A31T|DHRS4_ENST00000308178.8_Missense_Mutation_p.A13T|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	31			A -> T (in dbSNP:rs1043442).		alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGACCCGCTCGCAAATAAGGT	0.662																																																	0													28.0	36.0	33.0					14																	24423088		2202	4297	6499	SO:0001583	missense	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.91G>A	14.37:g.24423088G>A	ENSP00000326219:p.Ala31Thr		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.A31T	ENST00000313250.5	37	c.91	CCDS9605.1	14	.	.	.	.	.	.	.	.	.	.	.	12.31	1.900819	0.33535	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	D;D;T;T;T;T;T;T	0.85411	-1.85;-1.98;0.47;0.48;1.65;1.84;0.44;1.64	3.54	0.135	0.14775	NAD(P)-binding domain (1);	1.647540	0.03536	N	0.223207	T	0.75874	0.3909	L	0.41961	1.31	0.09310	N	0.99999	B;B;B;B;B;B	0.27932	0.194;0.0;0.0;0.019;0.024;0.001	B;B;B;B;B;B	0.23018	0.043;0.001;0.0;0.004;0.008;0.001	T	0.55341	-0.8156	10	0.16896	T	0.51	.	2.1202	0.03724	0.1185:0.1924:0.4921:0.197	rs1043442;rs3182992;rs17419686	31;31;31;31;31;31	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	T	31;13;13;13;13;31;31;31	ENSP00000326219:A31T;ENSP00000404147:A13T;ENSP00000380263:A13T;ENSP00000311993:A13T;ENSP00000372209:A13T;ENSP00000380265:A31T;ENSP00000380264:A31T;ENSP00000440508:A31T	ENSP00000311993:A13T	A	+	1	0	DHRS4	23492928	0.144000	0.22641	0.376000	0.26042	0.853000	0.48598	1.685000	0.37659	0.277000	0.22141	0.479000	0.44913	GCA	DHRS4	-	NULL	ENSG00000157326		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3		0.00	126	0	G			24423088	+1			no_errors	ENST00000313250	ensembl	human	known	74_37	missense	10.53	136	16	SNP	0.562	A
DIO3OS	64150	genome.wustl.edu	37	14	102023753	102023753	+	lincRNA	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:102023753C>T	ENST00000408206.1	-	0	272					NR_031649.1				DIO3 opposite strand/antisense RNA (head to head)																		GAGGCAGACACGAAACCGGGG	0.627																																																	0																																												0			AF305836		14q32.31	2012-10-19	2012-10-15	2011-11-14		ENSG00000258498		"""Long non-coding RNAs"", ""-"""	20348	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 41"""	608523	"""chromosome 14 open reading frame 134"", ""deiodinase, iodothyronine, type III opposite strand"", ""DIO3 opposite strand/antisense RNA"""	C14orf134		14962667	Standard	NR_002770		Approved	NCRNA00041, DIO3-AS1	uc001yke.3		OTTHUMG00000171682		14.37:g.102023753C>T				RNA	SNP	-	NULL	ENST00000408206.1	37	NULL		14																																																																																			DIO3OS	-	-	ENSG00000258498		0.627	DIO3OS-201	KNOWN	basic	miRNA	DIO3OS	HGNC	lincRNA		-	0.00	156	0	C	NR_002770		102023753	-1	tier1	-	no_errors	ENST00000554441	ensembl	human	known	74_37	rna	41.50	86	61	SNP	0.000	T
DOCK3	1795	genome.wustl.edu	37	3	51393609	51393609	+	Missense_Mutation	SNP	C	C	T	rs377384726		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:51393609C>T	ENST00000266037.9	+	42	4362	c.4339C>T	c.(4339-4341)Cgc>Tgc	p.R1447C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGCTTCTATCGCGTCAACAA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		25045	0.0		0.0	False		,,,				2504	0.0																0								C	CYS/ARG	1,3909		0,1,1954	136.0	129.0	131.0		4339	5.4	1.0	3		131	0,8322		0,0,4161	no	missense	DOCK3	NM_004947.4	180	0,1,6115	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	1447/2031	51393609	1,12231	1955	4161	6116	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4339C>T	3.37:g.51393609C>T	ENSP00000266037:p.Arg1447Cys		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1447C	ENST00000266037.9	37	c.4339	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345772	0.82022	2.56E-4	0.0	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19806	2.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.43163	-0.9408	10	0.62326	D	0.03	.	14.3041	0.66373	0.1485:0.8515:0.0:0.0	.	1447	Q8IZD9	DOCK3_HUMAN	C	1447;243	ENSP00000266037:R1447C	ENSP00000266037:R1447C	R	+	1	0	DOCK3	51368649	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	3.101000	0.50283	2.665000	0.90641	0.561000	0.74099	CGC	DOCK3	-	pfam_DOCK_C	ENSG00000088538		0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	65	0	C	NM_004947		51393609	+1			no_errors	ENST00000266037	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
DPH5	51611	genome.wustl.edu	37	1	101456097	101456097	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:101456097G>T	ENST00000370109.3	-	8	837	c.725C>A	c.(724-726)aCt>aAt	p.T242N	DPH5_ENST00000427040.2_Missense_Mutation_p.T3N|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.T241N|AC093157.1_ENST00000593496.1_Missense_Mutation_p.V31L|DPH5_ENST00000488176.1_Missense_Mutation_p.T242N	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	242					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)		CAAGTCCACAGTGCACATTTG	0.458																																																	0													132.0	128.0	129.0					1																	101456097		2039	4197	6236	SO:0001583	missense	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.725C>A	1.37:g.101456097G>T	ENSP00000359127:p.Thr242Asn		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.T242N	ENST00000370109.3	37	c.725	CCDS41358.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926460	0.52759	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	5.85	0.93711	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.104592	0.64402	D	0.000002	T	0.26340	0.0643	N	0.22421	0.69	0.39316	D	0.965161	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17319	-1.0373	9	0.07813	T	0.8	-13.8287	17.9364	0.89013	0.0:0.0:1.0:0.0	.	242;241	Q9H2P9;A8JZY6	DPH5_HUMAN;.	N	242;241;191;3;241;242	.	ENSP00000339630:T241N	T	-	2	0	DPH5	101228685	0.999000	0.42202	0.743000	0.31040	0.873000	0.50193	5.266000	0.65525	2.773000	0.95371	0.655000	0.94253	ACT	DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.458	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1	-	0.00	85	0	G	NM_015958		101456097	-1	tier1	-	no_errors	ENST00000370109	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.815	T
ENPP3	5169	genome.wustl.edu	37	6	132054827	132054827	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:132054827G>A	ENST00000414305.1	+	22	2381	c.2053G>A	c.(2053-2055)Gac>Aac	p.D685N	ENPP3_ENST00000357639.3_Missense_Mutation_p.D685N|ENPP3_ENST00000358229.5_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	685	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTATTTAGCAGACAAGAATAT	0.498																																																	0													125.0	121.0	123.0					6																	132054827		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2053G>A	6.37:g.132054827G>A	ENSP00000406261:p.Asp685Asn		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.D685N	ENST00000414305.1	37	c.2053	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	8.305	0.820835	0.16678	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.69040	-0.37;-0.37	5.91	4.12	0.48240	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (2);	0.560417	0.18900	N	0.128078	T	0.31979	0.0814	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.14924	-1.0455	10	0.09338	T	0.73	-14.0502	11.4296	0.50032	0.0678:0.139:0.7932:0.0	.	685	O14638	ENPP3_HUMAN	N	685	ENSP00000406261:D685N;ENSP00000350265:D685N	ENSP00000350265:D685N	D	+	1	0	ENPP3	132096520	0.988000	0.35896	1.000000	0.80357	0.936000	0.57629	3.698000	0.54771	0.807000	0.34208	0.460000	0.39030	GAC	ENPP3	-	smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.498	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2		0.00	94	0	G			132054827	+1			no_errors	ENST00000357639	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.809	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143210571	143210572	+	lincRNA	DEL	AC	AC	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:143210571_143210572delAC	ENST00000412204.2	-	0	498_499				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATAAAAGTAAACACACACACAC	0.297																																																	0																																												0																															1.37:g.143210581_143210582delAC				RNA	DEL	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.297	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2		0.00	46	0	AC			143210572	-1	tier1		no_errors	ENST00000412204	ensembl	human	known	74_37	rna	9.09	60	6	DEL	0.083:0.084	-
RP11-77P16.4	0	genome.wustl.edu	37	3	129838380	129838383	+	lincRNA	DEL	AGAA	AGAA	-	rs2624642|rs113139497	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	AGAA	AGAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:129838380_129838383delAGAA	ENST00000504808.2	+	0	566_569																											catcagagagagaaagagagaCCG	0.559														1520	0.303514	0.2035	0.3559	5008	,	,		16899	0.244		0.4115	False		,,,				2504	0.3517																0																																												0																															3.37:g.129838380_129838383delAGAA				RNA	DEL	-	NULL	ENST00000504808.2	37	NULL		3																																																																																			RP11-77P16.4	-	-	ENSG00000249846		0.559	RP11-77P16.4-003	KNOWN	basic|exp_conf	lincRNA	ENSG00000249846	Clone_based_vega_gene	lincRNA	OTTHUMT00000358310.2		0.00	12	0	AGAA			129838383	+1	tier1		no_errors	ENST00000504808	ensembl	human	known	74_37	rna	83.33	1	5	DEL	0.016:0.012:0.011:0.011	-
EYA1	2138	genome.wustl.edu	37	8	72111459	72111459	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:72111459G>A	ENST00000340726.3	-	0	2534				EYA1_ENST00000303824.7_3'UTR|EYA1_ENST00000388741.2_3'UTR|EYA1_ENST00000388743.2_3'UTR|EYA1_ENST00000388742.4_3'UTR|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000388740.3_3'UTR	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1						anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAGCAACTGCGCATCACCAGG	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.*116C>T	8.37:g.72111459G>A			A6NHQ0|G5E9R4|Q0P516|Q8WX80	RNA	SNP	-	NULL	ENST00000340726.3	37	NULL	CCDS34906.1	8																																																																																			RP11-326E22.1	-	-	ENSG00000254031		0.542	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254031	Clone_based_vega_gene	protein_coding	OTTHUMT00000313788.2	-	0.00	19	0	G	NM_000503, NM_172060		72111459	+1	tier1	-	no_errors	ENST00000521685	ensembl	human	known	74_37	rna	26.09	17	6	SNP	0.000	A
TRPC6	7225	genome.wustl.edu	37	11	101465093	101465093	+	Intron	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:101465093G>T	ENST00000526713.1	-	2	265				RP11-748H22.1_ENST00000527374.1_RNA			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						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)			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)		AACAGACCCAGGAAAGTATTC	0.527																																					Colon(166;1315 1927 11094 12848 34731)												0																																										SO:0001627	intron_variant	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		ENST00000526713.1:c.95-89564C>A	11.37:g.101465093G>T			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	RNA	SNP	-	NULL	ENST00000526713.1	37	NULL		11																																																																																			RP11-748H22.1	-	-	ENSG00000254506		0.527	TRPC6-007	KNOWN	basic	processed_transcript	ENSG00000254506	Clone_based_vega_gene	protein_coding	OTTHUMT00000394832.1	-	0.00	37	0	G	NM_004621		101465093	+1	tier1	-	no_errors	ENST00000527374	ensembl	human	known	74_37	rna	42.50	23	17	SNP	0.974	T
AC007204.2	0	genome.wustl.edu	37	19	20067737	20067737	+	lincRNA	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:20067737C>T	ENST00000592245.1	+	0	263																											CTTAAGGCTCCGCCCCTTCAG	0.537																																																	0																																												0																															19.37:g.20067737C>T				RNA	SNP	-	NULL	ENST00000592245.1	37	NULL		19																																																																																			AC007204.2	-	-	ENSG00000267268		0.537	AC007204.2-001	KNOWN	basic	lincRNA	ENSG00000267268	Clone_based_vega_gene	lincRNA	OTTHUMT00000460817.1	-	0.00	17	0	C			20067737	+1	tier1	-	no_errors	ENST00000592245	ensembl	human	known	74_37	rna	77.78	2	7	SNP	0.010	T
EPHA6	285220	genome.wustl.edu	37	3	96706669	96706669	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:96706669C>T	ENST00000389672.5	+	3	984	c.946C>T	c.(946-948)Cca>Tca	p.P316S	EPHA6_ENST00000470610.2_Missense_Mutation_p.P316S|EPHA6_ENST00000542517.1_Missense_Mutation_p.P222S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	222						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						TGATACCATTCCAAGGGTTGA	0.478																																																	0													211.0	212.0	212.0					3																	96706669		1971	4174	6145	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	ENST00000389672.5:c.946C>T	3.37:g.96706669C>T	ENSP00000374323:p.Pro316Ser		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.P316S	ENST00000389672.5	37	c.946	CCDS46876.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.187322|2.187322	0.38609|0.38609	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.74315|.	5.07;-0.83;4.53|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.270289|.	0.29260|.	U|.	0.012678|.	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.54330|0.54330	-0.8310|-0.8310	10|5	0.31617|.	T|.	0.26|.	.|.	18.3228|18.3228	0.90244|0.90244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	316;316|.	B3KS12;E7EU71|.	.;.|.	S|F	316;316;222|260	ENSP00000420598:P316S;ENSP00000374323:P316S;ENSP00000439758:P222S|.	ENSP00000374323:P316S|.	P|S	+|+	1|2	0|0	EPHA6|EPHA6	98189359|98189359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.725000|4.725000	0.61979|0.61979	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	CCA|TCC	EPHA6	-	NULL	ENSG00000080224		0.478	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	-	0.00	51	0	C	NM_001080448		96706669	+1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	27.54	50	19	SNP	1.000	T
ERN1	2081	genome.wustl.edu	37	17	62133085	62133085	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:62133085C>T	ENST00000433197.3	-	13	1717	c.1622G>A	c.(1621-1623)aGc>aAc	p.S541N		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGAGGCAGAGCTGCCGGAGCA	0.612																																																	0													21.0	23.0	22.0					17																	62133085		2093	4232	6325	SO:0001583	missense	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1622G>A	17.37:g.62133085C>T	ENSP00000401445:p.Ser541Asn			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.S541N	ENST00000433197.3	37	c.1622	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	9.875	1.200106	0.22121	.	.	ENSG00000178607	ENST00000433197	T	0.60424	0.19	5.11	2.85	0.33270	.	0.606698	0.18232	N	0.147526	T	0.27169	0.0666	N	0.08118	0	0.25331	N	0.989033	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.13853	T	0.58	-7.5504	2.3007	0.04162	0.2603:0.4772:0.1557:0.1069	.	541	O75460	ERN1_HUMAN	N	541	ENSP00000401445:S541N	ENSP00000401445:S541N	S	-	2	0	ERN1	59486817	0.995000	0.38212	0.941000	0.38009	0.844000	0.47949	3.154000	0.50693	2.376000	0.81061	0.407000	0.27541	AGC	ERN1	-	NULL	ENSG00000178607		0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2		0.00	24	0	C	NM_001433		62133085	-1			no_errors	ENST00000433197	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.993	T
EVI5L	115704	genome.wustl.edu	37	19	7914023	7914023	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:7914023G>A	ENST00000270530.4	+	4	740	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	EVI5L_ENST00000538904.2_Missense_Mutation_p.V182I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	182	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTTCAACGTCATGAAGGT	0.642																																																	0													34.0	31.0	32.0					19																	7914023		2202	4300	6502	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.544G>A	19.37:g.7914023G>A	ENSP00000270530:p.Val182Ile		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V182I	ENST00000270530.4	37	c.544	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862153	0.71949	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.10099	2.91;2.91	3.91	3.91	0.45181	Rab-GAP/TBC domain (4);	0.129302	0.50627	D	0.000101	T	0.25158	0.0611	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.69142	0.885;0.962	T	0.00893	-1.1524	10	0.38643	T	0.18	-45.7164	13.4556	0.61197	0.0:0.0:1.0:0.0	.	182;182	B9A6I9;Q96CN4	.;EVI5L_HUMAN	I	182	ENSP00000270530:V182I;ENSP00000445905:V182I	ENSP00000270530:V182I	V	+	1	0	EVI5L	7820023	1.000000	0.71417	0.965000	0.40720	0.419000	0.31324	9.657000	0.98554	2.023000	0.59567	0.462000	0.41574	GTC	EVI5L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000142459		0.642	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	-	0.00	82	0	G	NM_145245		7914023	+1	tier1	-	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.999	A
FAM105A	54491	genome.wustl.edu	37	5	14601228	14601228	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:14601228G>T	ENST00000274217.3	+	2	339	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	73										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GGCACAAGCTGAAATGGTAGG	0.388																																																	0													179.0	170.0	173.0					5																	14601228		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.219G>T	5.37:g.14601228G>T			Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L73	ENST00000274217.3	37	c.219	CCDS3884.1	5																																																																																			FAM105A	-	NULL	ENSG00000145569		0.388	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1		0.00	68	0	G	NM_019018		14601228	+1			no_errors	ENST00000274217	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.992	T
FAM205B	389715	genome.wustl.edu	37	9	34834937	34834937	+	RNA	SNP	A	A	G	rs202203144	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:34834937A>G	ENST00000455647.2	-	0	1456							Q63HN1	F205B_HUMAN	family with sequence similarity 205, member B									p.L184L(2)									CAATCTTGGGAAGGCCTTGAG	0.517													G|||	2480	0.495208	0.5461	0.3559	5008	,	,		11564	0.5952		0.327	False		,,,				2504	0.5951																2	Substitution - coding silent(2)	endometrium(2)																																										0					9p13.3	2013-05-22	2011-08-15	2011-08-15	ENSG00000257198	ENSG00000257198			24504	other	unknown			"""chromosome 9 open reading frame 144"""	C9orf144			Standard	NR_024481		Approved	DKFZp434J193, C9orf144A	uc003zvp.4	Q63HN1	OTTHUMG00000019839		9.37:g.34834937A>G			Q6ZRJ7	RNA	SNP	-	NULL	ENST00000455647.2	37	NULL		9																																																																																			FAM205B	-	-	ENSG00000257198		0.517	FAM205B-001	KNOWN	basic	processed_transcript	FAM205B	HGNC	pseudogene	OTTHUMT00000052246.5	-	0.00	36	0	A	NR_024481		34834937	-1	tier1	rs202203144	no_errors	ENST00000455647	ensembl	human	known	74_37	rna	73.33	4	11	SNP	0.000	G
FAM65C	140876	genome.wustl.edu	37	20	49232601	49232601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:49232601G>A	ENST00000327979.2	-	4	685	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q92*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q96*|MIR1302-5_ENST00000408164.1_RNA			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	92										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGCCTGCTGCACACACAGA	0.547																																																	0													89.0	76.0	80.0					20																	49232601		2203	4300	6503	SO:0001587	stop_gained	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.274C>T	20.37:g.49232601G>A	ENSP00000332663:p.Gln92*		Q5QPB6|Q9NQQ2	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.Q96*	ENST00000327979.2	37	c.286	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	40	8.191320	0.98699	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	5.07	5.07	0.68467	.	0.111631	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-33.3713	12.9377	0.58325	0.0:0.0:0.8372:0.1628	.	.	.	.	X	92;92;96	.	ENSP00000045083:Q92X	Q	-	1	0	FAM65C	48666008	1.000000	0.71417	0.942000	0.38095	0.844000	0.47949	6.807000	0.75201	2.365000	0.80145	0.555000	0.69702	CAG	FAM65C	-	NULL	ENSG00000042062		0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0.00	34	0	G			49232601	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.998	A
FAM86DP	692099	genome.wustl.edu	37	3	75471297	75471297	+	RNA	DEL	C	C	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:75471297delC	ENST00000459803.1	-	0	1844					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		ACACATAACTCCTGGGCCAGA	0.587																																																	0																																												0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471297delC				RNA	DEL	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.587	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1		0.00	123	0	C	NR_024241		75471297	-1	tier1		no_errors	ENST00000459803	ensembl	human	known	74_37	rna	10.00	18	2	DEL	0.004	-
FASTKD5	60493	genome.wustl.edu	37	20	3129047	3129047	+	Missense_Mutation	SNP	T	T	C	rs144604664		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:3129047T>C	ENST00000380266.3	-	2	991	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	224					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACATCTAGCATTGAATGGGAG	0.443																																																	0								T	,VAL/MET,	0,4406		0,0,2203	59.0	59.0	59.0		,670,	2.5	1.0	20	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense,intron	UBOX5,FASTKD5	NM_014948.2,NM_021826.4,NM_199415.1	,21,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,benign,	,224/765,	3129047	2,13004	2203	4300	6503	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.670A>G	20.37:g.3129047T>C	ENSP00000369618:p.Met224Val		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.M224V	ENST00000380266.3	37	c.670	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	T	0.291	-0.979848	0.02197	0.0	2.33E-4	ENSG00000215251	ENST00000380266	T	0.13901	2.55	5.9	2.48	0.30137	.	0.283401	0.33346	N	0.005010	T	0.06371	0.0164	N	0.17082	0.46	0.28531	N	0.91257	B	0.02656	0.0	B	0.06405	0.002	T	0.39035	-0.9633	10	0.10377	T	0.69	.	6.2436	0.20805	0.0:0.2605:0.1243:0.6153	.	224	Q7L8L6	FAKD5_HUMAN	V	224	ENSP00000369618:M224V	ENSP00000369618:M224V	M	-	1	0	FASTKD5	3077047	0.987000	0.35691	0.984000	0.44739	0.965000	0.64279	0.766000	0.26560	0.490000	0.27771	0.460000	0.39030	ATG	FASTKD5	-	NULL	ENSG00000215251		0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	-	0.00	32	0	T	NM_021826		3129047	-1	tier1	rs144604664	no_errors	ENST00000380266	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.986	C
FAXDC2	10826	genome.wustl.edu	37	5	154202946	154202946	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:154202946C>T	ENST00000326080.5	-	6	996		c.e6+1		FAXDC2_ENST00000517938.1_Splice_Site|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2						fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										GGCCTGCTCACCGGTGTGAAT	0.577																																																	0													59.0	61.0	60.0					5																	154202946		2096	4230	6326	SO:0001630	splice_region_variant	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.572+1G>A	5.37:g.154202946C>T			B4DIE1|Q9BSX6|Q9H8C7	Splice_Site	SNP	-	e5+1	ENST00000326080.5	37	c.572+1	CCDS43390.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118266	0.77323	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9297	0.86187	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf4	154183139	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.200000	0.77838	2.216000	0.71823	0.561000	0.74099	.	FAXDC2	-	-	ENSG00000170271		0.577	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXDC2	HGNC	protein_coding	OTTHUMT00000377429.1	-	0.00	44	0	C	NM_032385	Intron	154202946	-1	tier1	-	no_errors	ENST00000326080	ensembl	human	known	74_37	splice_site	10.53	34	4	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152278979	152278979	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:152278979C>T	ENST00000368799.1	-	3	8418	c.8383G>A	c.(8383-8385)Gga>Aga	p.G2795R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2795	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTCCTCCTCTGCTTGAC	0.592									Ichthyosis																																								0													256.0	350.0	318.0					1																	152278979		2193	4296	6489	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8383G>A	1.37:g.152278979C>T	ENSP00000357789:p.Gly2795Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G2795R	ENST00000368799.1	37	c.8383	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778710	0.31502	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00745	5.75	4.2	-8.4	0.00965	.	.	.	.	.	T	0.00241	0.0007	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.42378	-0.9455	9	0.31617	T	0.26	.	3.9348	0.09301	0.1234:0.4975:0.1245:0.2546	.	2795	P20930	FILA_HUMAN	R	2795;57	ENSP00000357789:G2795R	ENSP00000357786:G57R	G	-	1	0	FLG	150545603	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.822000	0.01711	-1.446000	0.01945	0.306000	0.20318	GGA	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	114	0	C	NM_002016		152278979	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	23.24	142	43	SNP	0.000	T
FLNC	2318	genome.wustl.edu	37	7	128496898	128496898	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:128496898G>C	ENST00000325888.8	+	45	7745	c.7484G>C	c.(7483-7485)cGc>cCc	p.R2495P	FLNC_ENST00000346177.6_Missense_Mutation_p.R2462P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2495	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAAGATCCGCGTTGGGGAG	0.622																																																	0													72.0	78.0	76.0					7																	128496898		2168	4274	6442	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7484G>C	7.37:g.128496898G>C	ENSP00000327145:p.Arg2495Pro		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2495P	ENST00000325888.8	37	c.7484	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	g	28.4	4.918868	0.92249	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88354	-2.37;-2.37	5.51	5.51	0.81932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.75615	2.305	0.80722	D	1	D;B	0.76494	0.999;0.3	D;B	0.81914	0.995;0.087	D	0.94602	0.7797	10	0.72032	D	0.01	.	19.4409	0.94820	0.0:0.0:1.0:0.0	.	2462;2495	Q14315-2;Q14315	.;FLNC_HUMAN	P	2495;2462	ENSP00000327145:R2495P;ENSP00000344002:R2462P	ENSP00000327145:R2495P	R	+	2	0	FLNC	128284134	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	9.806000	0.99153	2.588000	0.87417	0.552000	0.68991	CGC	FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0.00	67	0	G			128496898	+1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C
FMN2	56776	genome.wustl.edu	37	1	240519210	240519210	+	Splice_Site	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:240519210T>C	ENST00000319653.9	+	14	5088		c.e14+2		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						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.?(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)			TTATTCAAGGTAAATTCCAAA	0.308																																																	1	Unknown(1)	prostate(1)											63.0	58.0	59.0					1																	240519210		2203	4300	6503	SO:0001630	splice_region_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.4858+2T>C	1.37:g.240519210T>C			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	-	e14+2	ENST00000319653.9	37	c.4858+2	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207005	0.79127	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMN2	238585833	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	5.380000	0.66202	2.281000	0.76405	0.533000	0.62120	.	FMN2	-	-	ENSG00000155816		0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0.00	48	0	T	XM_371352	Intron	240519210	+1			no_errors	ENST00000319653	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	C
FOXG1	2290	genome.wustl.edu	37	14	29237611	29237611	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:29237611A>G	ENST00000313071.4	+	1	1325	c.1126A>G	c.(1126-1128)Acg>Gcg	p.T376A	FOXG1_ENST00000382535.3_Missense_Mutation_p.T376A	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	376					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)		CCCGTACGCCACGCACCACCT	0.677																																																	0													53.0	45.0	48.0					14																	29237611		2203	4300	6503	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.1126A>G	14.37:g.29237611A>G	ENSP00000339004:p.Thr376Ala		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T376A	ENST00000313071.4	37	c.1126	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609191	0.28623	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93547	-3.24;-3.24	4.21	4.21	0.49690	.	0.123358	0.52532	U	0.000064	D	0.87438	0.6177	N	0.24115	0.695	0.46437	D	0.999043	B	0.25521	0.128	B	0.22386	0.039	D	0.84540	0.0638	10	0.37606	T	0.19	.	13.5832	0.61915	1.0:0.0:0.0:0.0	.	376	P55316	FOXG1_HUMAN	A	376	ENSP00000371975:T376A;ENSP00000339004:T376A	ENSP00000339004:T376A	T	+	1	0	FOXG1	28307362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	1.661000	0.50771	0.402000	0.26972	ACG	FOXG1	-	NULL	ENSG00000176165		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0.00	34	0	A			29237611	+1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	G
GAB3	139716	genome.wustl.edu	37	X	153906377	153906378	+	3'UTR	INS	-	-	A	rs371001859		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:153906377_153906378insA	ENST00000369575.3	-	0	1869_1870				GAB3_ENST00000424127.2_3'UTR|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3						macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTAGTGGACaaaaaaaaaaa	0.411																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.*78->T	X.37:g.153906388_153906388dupA			A6NHF8|E9PB44	RNA	INS	-	NULL	ENST00000369575.3	37	NULL	CCDS14760.1	X																																																																																			GAB3	-	-	ENSG00000160219		0.411	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2		0.00	24	0	-	NM_001081573		153906378	-1	tier1		no_errors	ENST00000496390	ensembl	human	known	74_37	rna	7.14	26	2	INS	0.004:0.006	A
GALNT5	11227	genome.wustl.edu	37	2	158115162	158115162	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:158115162C>T	ENST00000259056.4	+	1	1053	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	190					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)	p.R190C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACACATGGGACGTGTCAGTTT	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											51.0	54.0	53.0					2																	158115162		2203	4300	6503	SO:0001583	missense	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.568C>T	2.37:g.158115162C>T	ENSP00000259056:p.Arg190Cys		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R190C	ENST00000259056.4	37	c.568	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797727	0.31777	.	.	ENSG00000136542	ENST00000259056	T	0.58652	0.32	4.83	0.175	0.15045	.	2.283130	0.01645	N	0.024279	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.27796	0.083	T	0.26052	-1.0114	10	0.59425	D	0.04	.	0.9487	0.01371	0.4123:0.2537:0.129:0.205	.	190	Q7Z7M9	GALT5_HUMAN	C	190	ENSP00000259056:R190C	ENSP00000259056:R190C	R	+	1	0	GALNT5	157823408	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.351000	0.07711	-0.077000	0.12752	0.655000	0.94253	CGT	GALNT5	-	NULL	ENSG00000136542		0.483	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2		0.00	26	0	C	NM_014568		158115162	+1			no_errors	ENST00000259056	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T
GBP6	163351	genome.wustl.edu	37	1	89849781	89849781	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:89849781A>C	ENST00000370456.4	+	10	1691	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	GBP6_ENST00000535065.1_Missense_Mutation_p.K403T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	533					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTGAAGGAGAAGCTGCAGATG	0.488																																																	0													106.0	92.0	97.0					1																	89849781		2203	4300	6503	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1598A>C	1.37:g.89849781A>C	ENSP00000359485:p.Lys533Thr		A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K533T	ENST00000370456.4	37	c.1598	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184928	0.57909	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02916	4.11;4.11	5.13	3.97	0.46021	Guanylate-binding protein, C-terminal (3);	0.251673	0.34245	N	0.004133	T	0.09202	0.0227	M	0.93283	3.4	0.28945	N	0.890777	D	0.89917	1.0	D	0.83275	0.996	T	0.19418	-1.0306	10	0.87932	D	0	-25.931	5.8061	0.18440	0.657:0.175:0.0:0.1681	.	533	Q6ZN66	GBP6_HUMAN	T	504;533;403	ENSP00000359485:K533T;ENSP00000442530:K403T	ENSP00000359485:K533T	K	+	2	0	GBP6	89622369	1.000000	0.71417	0.434000	0.26772	0.078000	0.17371	2.894000	0.48640	0.759000	0.33084	0.482000	0.46254	AAG	GBP6	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000183347		0.488	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	-	0.00	46	0	A	NM_198460		89849781	+1	tier1	-	no_errors	ENST00000370456	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.972	C
GCC1	79571	genome.wustl.edu	37	7	127224765	127224765	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:127224765G>T	ENST00000321407.2	-	1	896	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	158					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCTGGTGCAGTCTTTTGTCC	0.542																																																	0													116.0	115.0	115.0					7																	127224765		2203	4300	6503	SO:0001583	missense	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.472C>A	7.37:g.127224765G>T	ENSP00000318821:p.Leu158Met		Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.L158M	ENST00000321407.2	37	c.472	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465484	0.26335	.	.	ENSG00000179562	ENST00000321407	T	0.13196	2.61	5.96	0.173	0.15036	.	0.306844	0.31188	N	0.008096	T	0.07458	0.0188	L	0.29908	0.895	0.22142	N	0.999339	B	0.12013	0.005	B	0.13407	0.009	T	0.22977	-1.0201	10	0.44086	T	0.13	-3.0955	1.9831	0.03430	0.349:0.1307:0.3944:0.1259	.	158	Q96CN9	GCC1_HUMAN	M	158	ENSP00000318821:L158M	ENSP00000318821:L158M	L	-	1	2	GCC1	127012001	0.002000	0.14202	0.843000	0.33291	0.998000	0.95712	0.001000	0.13038	0.088000	0.17205	0.650000	0.86243	CTG	GCC1	-	NULL	ENSG00000179562		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	-	0.00	52	0	G	NM_024523		127224765	-1	tier1	-	no_errors	ENST00000321407	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.006	T
GCNT1	2650	genome.wustl.edu	37	9	79117955	79117955	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:79117955G>T	ENST00000376730.4	+	4	1141	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	GCNT1_ENST00000444201.2_Missense_Mutation_p.D220Y|GCNT1_ENST00000442371.1_Missense_Mutation_p.D220Y|GCNT1_ENST00000536223.1_Missense_Mutation_p.D220Y	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	220	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTGTGGTATGGATTTTCCCAT	0.428																																																	0													69.0	68.0	68.0					9																	79117955		2203	4300	6503	SO:0001583	missense	0			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.658G>T	9.37:g.79117955G>T	ENSP00000365920:p.Asp220Tyr		Q6DJZ4	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.D220Y	ENST00000376730.4	37	c.658	CCDS6653.1	9	.	.	.	.	.	.	.	.	.	.	g	22.1	4.249122	0.80024	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68390	-0.5421	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	220	Q02742	GCNT1_HUMAN	Y	220	ENSP00000440883:D220Y;ENSP00000415454:D220Y;ENSP00000390703:D220Y;ENSP00000365920:D220Y	.	D	+	1	0	GCNT1	78307775	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAT	GCNT1	-	pfam_Glyco_trans_14	ENSG00000187210		0.428	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT1	HGNC	protein_coding	OTTHUMT00000052725.1		0.00	37	0	G	NM_001097634		79117955	+1			no_errors	ENST00000376730	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
GGA2	23062	genome.wustl.edu	37	16	23478709	23478710	+	3'UTR	DEL	AC	AC	-	rs57255054|rs71722726|rs199927740		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:23478709_23478710delAC	ENST00000309859.4	-	0	2125_2126				GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CTCTCCCCGAacacacacacac	0.51																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.*202GT>-	16.37:g.23478719_23478720delAC			D3DWF0|O14564|Q9NYN2|Q9UPS2	RNA	DEL	-	NULL	ENST00000309859.4	37	NULL	CCDS10611.1	16																																																																																			GGA2	-	-	ENSG00000103365		0.510	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1		0.00	11	0	AC			23478710	-1	tier1		no_errors	ENST00000566685	ensembl	human	putative	74_37	rna	26.32	14	5	DEL	0.000:0.000	-
GID4	79018	genome.wustl.edu	37	17	17962265	17962265	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:17962265C>T	ENST00000268719.4	+	4	863	c.690C>T	c.(688-690)taC>taT	p.Y230Y		NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	230								p.Y230Y(1)									ATGGAGACTACGTCTTCATGA	0.463																																																	1	Substitution - coding silent(1)	ovary(1)											74.0	67.0	70.0					17																	17962265		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.690C>T	17.37:g.17962265C>T			Q8TEB5|Q9BW50	Silent	SNP	pfam_Vacuolar_import/degrad_Vid24	p.Y230	ENST00000268719.4	37	c.690	CCDS11190.1	17																																																																																			GID4	-	pfam_Vacuolar_import/degrad_Vid24	ENSG00000141034		0.463	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID4	HGNC	protein_coding	OTTHUMT00000132071.2		0.00	34	0	C	NM_024052		17962265	+1			no_errors	ENST00000268719	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.996	T
GIGYF1	64599	genome.wustl.edu	37	7	100283042	100283042	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100283042G>T	ENST00000275732.5	-	10	2326	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	373					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCAGGGTGGGCAGTGGGGAT	0.627																																																	0													44.0	44.0	44.0					7																	100283042		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1117C>A	7.37:g.100283042G>T	ENSP00000275732:p.Pro373Thr		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P373T	ENST00000275732.5	37	c.1117	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	9.864	1.197186	0.22037	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83591	-1.74	5.38	1.53	0.23141	.	0.340897	0.30455	N	0.009599	T	0.68016	0.2955	L	0.29908	0.895	0.37561	D	0.919064	B	0.02656	0.0	B	0.01281	0.0	T	0.55939	-0.8061	10	0.36615	T	0.2	-3.2504	4.0356	0.09729	0.0856:0.334:0.4304:0.1499	.	373	O75420	PERQ1_HUMAN	T	92;373	ENSP00000275732:P373T	ENSP00000275732:P373T	P	-	1	0	GIGYF1	100120978	1.000000	0.71417	0.653000	0.29593	0.039000	0.13416	0.962000	0.29280	0.096000	0.17463	0.655000	0.94253	CCC	GIGYF1	-	NULL	ENSG00000146830		0.627	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	-	0.00	29	0	G	NM_022574		100283042	-1	tier1	-	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.563	T
GLIS3	169792	genome.wustl.edu	37	9	3879490	3879490	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:3879490C>T	ENST00000324333.10	-	7	1962	c.1769G>A	c.(1768-1770)gGg>gAg	p.G590E	GLIS3_ENST00000381971.3_Missense_Mutation_p.G745E|GLIS3_ENST00000461870.1_5'UTR|RP11-252M18.3_ENST00000422150.1_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	590					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGAGGGCTCCCCTGTACATT	0.552																																																	0													129.0	117.0	121.0					9																	3879490		2203	4300	6503	SO:0001583	missense	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1769G>A	9.37:g.3879490C>T	ENSP00000325494:p.Gly590Glu		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G745E	ENST00000324333.10	37	c.2234	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313400	0.60414	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.46451	0.87;0.87	5.98	5.98	0.97165	.	0.000000	0.52532	D	0.000065	T	0.55449	0.1921	L	0.29908	0.895	0.40746	D	0.982876	D;D;P;D	0.89917	0.996;1.0;0.86;1.0	P;D;P;D	0.91635	0.865;0.998;0.536;0.999	T	0.53049	-0.8493	10	0.46703	T	0.11	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	185;258;745;590	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	E	590;745	ENSP00000325494:G590E;ENSP00000371398:G745E	ENSP00000325494:G590E	G	-	2	0	GLIS3	3869490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.297000	0.65704	2.838000	0.97847	0.655000	0.94253	GGG	GLIS3	-	NULL	ENSG00000107249		0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1		0.00	65	0	C	NM_152629		3879490	-1			no_errors	ENST00000381971	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
GPATCH2	55105	genome.wustl.edu	37	1	217793695	217793695	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:217793695C>G	ENST00000366935.3	-	2	313	c.203G>C	c.(202-204)aGg>aCg	p.R68T	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R68T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	68					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTCCCTCTCCTTTTCCTTGC	0.488																																																	0													137.0	121.0	126.0					1																	217793695		2203	4300	6503	SO:0001583	missense	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.203G>C	1.37:g.217793695C>G	ENSP00000355902:p.Arg68Thr		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.R68T	ENST00000366935.3	37	c.203	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253424	0.80135	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.64438	0.37;-0.1	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.70275	2.135	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75422	-0.3323	10	0.30078	T	0.28	-14.537	14.8834	0.70550	0.0:0.9309:0.0:0.0691	.	68;68	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	T	68	ENSP00000355902:R68T;ENSP00000355901:R68T	ENSP00000355901:R68T	R	-	2	0	GPATCH2	215860318	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.440000	0.80464	1.401000	0.46761	-0.216000	0.12614	AGG	GPATCH2	-	NULL	ENSG00000092978		0.488	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	-	0.00	114	0	C	NM_018040		217793695	-1	tier1	-	no_errors	ENST00000366935	ensembl	human	known	74_37	missense	46.67	48	42	SNP	1.000	G
GPATCH8	23131	genome.wustl.edu	37	17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:42478100C>T	ENST00000591680.1	-	8	1375	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A371T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	449							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													157.0	157.0	157.0					17																	42478100		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1345G>A	17.37:g.42478100C>T	ENSP00000467556:p.Ala449Thr	909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.A449T	ENST00000591680.1	37	c.1345	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863795	0.17250	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11385	2.78	5.02	-0.309	0.12769	.	0.702694	0.13772	N	0.363850	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.40728	T	0.16	0.001	8.3644	0.32378	0.0:0.486:0.0:0.514	.	449	Q9UKJ3	GPTC8_HUMAN	T	449;371	ENSP00000395016:A371T	ENSP00000335486:A449T	A	-	1	0	GPATCH8	39833626	0.016000	0.18221	0.188000	0.23233	0.813000	0.45954	0.398000	0.20899	-0.147000	0.11254	0.563000	0.77884	GCA	GPATCH8	-	NULL	ENSG00000186566		0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0.00	52	0	C	NM_001002909		42478100	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.000	T
GPRC6A	222545	genome.wustl.edu	37	6	117128197	117128197	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:117128197G>A	ENST00000310357.3	-	3	692	c.671C>T	c.(670-672)gCt>gTt	p.A224V	GPRC6A_ENST00000530250.1_Missense_Mutation_p.A224V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.A224V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	224					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGTGTTAAGAGCCAATCGTCC	0.398																																																	0													180.0	182.0	181.0					6																	117128197		2203	4300	6503	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.671C>T	6.37:g.117128197G>A	ENSP00000309493:p.Ala224Val		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.A224V	ENST00000310357.3	37	c.671	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340817	0.60963	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	T;T;T	0.81078	-1.45;-1.45;-1.45	6.05	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.111999	0.39687	N	0.001300	D	0.84424	0.5469	M	0.64170	1.965	0.25853	N	0.983918	D;D;D	0.89917	0.992;1.0;0.988	P;D;P	0.74348	0.892;0.983;0.896	T	0.77153	-0.2692	10	0.41790	T	0.15	.	16.8541	0.86001	0.0:0.1281:0.8719:0.0	.	224;224;224	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	V	224	ENSP00000309493:A224V;ENSP00000357537:A224V;ENSP00000433465:A224V	ENSP00000309493:A224V	A	-	2	0	GPRC6A	117234890	1.000000	0.71417	0.967000	0.41034	0.454000	0.32378	4.012000	0.57131	2.880000	0.98712	0.655000	0.94253	GCT	GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000173612		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0.00	58	0	G			117128197	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.945	A
GPRIN1	114787	genome.wustl.edu	37	5	176025587	176025587	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:176025587C>T	ENST00000303991.4	-	2	1426	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	417					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)			GAAACTGGATCCACCTTGCCT	0.532																																																	0													68.0	62.0	64.0					5																	176025587		2203	4300	6503	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.1249G>A	5.37:g.176025587C>T	ENSP00000305839:p.Asp417Asn		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.D417N	ENST00000303991.4	37	c.1249	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071804	0.36566	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.14022	2.54	5.07	4.21	0.49690	.	0.472647	0.15597	N	0.254135	T	0.18130	0.0435	L	0.52573	1.65	0.09310	N	1	D	0.53462	0.96	P	0.51229	0.663	T	0.08827	-1.0703	10	0.23891	T	0.37	-0.0805	7.5652	0.27874	0.0:0.8075:0.0:0.1925	.	417	Q7Z2K8	GRIN1_HUMAN	N	417	ENSP00000305839:D417N	ENSP00000305839:D417N	D	-	1	0	GPRIN1	175958193	0.001000	0.12720	0.002000	0.10522	0.015000	0.08874	0.806000	0.27126	1.144000	0.42321	0.455000	0.32223	GAT	GPRIN1	-	NULL	ENSG00000169258		0.532	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	-	0.00	20	0	C	NM_052899		176025587	-1	tier1	-	no_errors	ENST00000303991	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.002	T
GTF2H1	2965	genome.wustl.edu	37	11	18361174	18361174	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:18361174A>G	ENST00000265963.4	+	5	737	c.577A>G	c.(577-579)Att>Gtt	p.I193V	GTF2H1_ENST00000534641.1_Missense_Mutation_p.I77V|GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.I193V	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	193	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTGATATCATTGAGTCCAT	0.363								Nucleotide excision repair (NER)																																									0													109.0	103.0	105.0					11																	18361174		2199	4293	6492	SO:0001583	missense	0				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.577A>G	11.37:g.18361174A>G	ENSP00000265963:p.Ile193Val		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.I193V	ENST00000265963.4	37	c.577	CCDS7838.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590931	0.86851	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963	T;T;T	0.53423	0.62;0.62;0.62	5.64	5.64	0.86602	BSD (3);	0.045135	0.85682	D	0.000000	T	0.56046	0.1959	L	0.45698	1.435	0.80722	D	1	P	0.48998	0.918	P	0.54706	0.759	T	0.53005	-0.8499	10	0.37606	T	0.19	-8.988	15.9036	0.79403	1.0:0.0:0.0:0.0	.	193	P32780	TF2H1_HUMAN	V	193;77;193	ENSP00000393638:I193V;ENSP00000435375:I77V;ENSP00000265963:I193V	ENSP00000265963:I193V	I	+	1	0	GTF2H1	18317750	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.930000	0.92872	2.157000	0.67596	0.529000	0.55759	ATT	GTF2H1	-	pfam_BSD,smart_BSD,pfscan_BSD	ENSG00000110768		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2		0.00	36	0	A	NM_005316		18361174	+1			no_errors	ENST00000265963	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G
GTPBP3	84705	genome.wustl.edu	37	19	17452322	17452322	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:17452322C>T	ENST00000324894.8	+	9	1357	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.T462I|GTPBP3_ENST00000361619.5_Missense_Mutation_p.T452I|GTPBP3_ENST00000600625.1_Missense_Mutation_p.T409I	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	430					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCGCTGCTGACCCGAGCAAGG	0.617																																																	0													44.0	49.0	47.0					19																	17452322		2203	4300	6503	SO:0001583	missense	0			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1289C>T	19.37:g.17452322C>T	ENSP00000313818:p.Thr430Ile		A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	p.T462I	ENST00000324894.8	37	c.1385	CCDS32951.1	19	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394085	0.62066	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.30714	1.52;1.52;1.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.89917	0.994;0.997;0.991;1.0	D;D;D;D	0.91635	0.949;0.987;0.953;0.999	T	0.52208	-0.8606	10	0.87932	D	0	-19.9051	17.0849	0.86609	0.0:1.0:0.0:0.0	.	452;430;409;462	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	I	452;430;462	ENSP00000354598:T452I;ENSP00000313818:T430I;ENSP00000351644:T462I	ENSP00000313818:T430I	T	+	2	0	GTPBP3	17313322	1.000000	0.71417	0.894000	0.35097	0.023000	0.10783	6.884000	0.75600	2.633000	0.89246	0.561000	0.74099	ACC	GTPBP3	-	NULL	ENSG00000130299		0.617	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP3	HGNC	protein_coding	OTTHUMT00000463624.1	-	0.00	55	0	C	NM_032620		17452322	+1	tier1	-	no_errors	ENST00000358792	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
HCRTR2	3062	genome.wustl.edu	37	6	55039443	55039443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:55039443G>T	ENST00000370862.3	+	1	394	c.58G>T	c.(58-60)Gag>Tag	p.E20*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	20					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCTGCTTCGGAGCTGAATGA	0.542																																																	0													123.0	116.0	118.0					6																	55039443		2203	4300	6503	SO:0001587	stop_gained	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.58G>T	6.37:g.55039443G>T	ENSP00000359899:p.Glu20*		Q5VTM0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.E20*	ENST00000370862.3	37	c.58	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	41	9.065150	0.99053	.	.	ENSG00000137252	ENST00000370862	.	.	.	4.99	4.99	0.66335	.	0.193489	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.47	0.90769	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000359899:E20X	E	+	1	0	HCRTR2	55147402	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.257000	0.78362	2.599000	0.87857	0.563000	0.77884	GAG	HCRTR2	-	NULL	ENSG00000137252		0.542	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0.00	79	0	G			55039443	+1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	nonsense	13.16	198	30	SNP	1.000	T
HDAC7	51564	genome.wustl.edu	37	12	48177544	48177544	+	IGR	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:48177544C>T	ENST00000427332.2	-	0	3016				HDAC7_ENST00000552960.1_3'UTR|HDAC7_ENST00000380610.4_3'UTR|AC004466.1_ENST00000599515.1_5'Flank|HDAC7_ENST00000080059.7_3'UTR|HDAC7_ENST00000354334.3_3'UTR			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TCTAAAGACCCAGGAATGGGG	0.532																																																	0																																										SO:0001628	intergenic_variant	0			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968		12.37:g.48177544C>T			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	RNA	SNP	-	NULL	ENST00000427332.2	37	NULL		12																																																																																			HDAC7	-	-	ENSG00000061273		0.532	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	-	0.00	61	0	C			48177544	-1	tier1	-	no_errors	ENST00000549883	ensembl	human	known	74_37	rna	7.35	63	5	SNP	0.000	T
HDAC9	9734	genome.wustl.edu	37	7	18687497	18687497	+	Silent	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:18687497C>A	ENST00000432645.2	+	9	1116	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	HDAC9_ENST00000428307.2_Silent_p.I328I|HDAC9_ENST00000456174.2_Silent_p.I344I|HDAC9_ENST00000441542.2_Silent_p.I375I|HDAC9_ENST00000406072.1_Silent_p.I359I|HDAC9_ENST00000405010.3_Silent_p.I372I|HDAC9_ENST00000524023.1_Silent_p.I295I|HDAC9_ENST00000401921.1_Silent_p.I331I|HDAC9_ENST00000417496.2_Silent_p.I370I|HDAC9_ENST00000406451.4_Silent_p.I372I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	372					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGGCAGCATCCCGGCATCTT	0.507																																																	0													38.0	41.0	40.0					7																	18687497		2076	4220	6296	SO:0001819	synonymous_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1116C>A	7.37:g.18687497C>A			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.I375	ENST00000432645.2	37	c.1125	CCDS47555.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0.00	56	0	C			18687497	+1			no_errors	ENST00000441542	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.048	A
HECTD1	25831	genome.wustl.edu	37	14	31581629	31581629	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:31581629C>T	ENST00000399332.1	-	35	6759	c.6271G>A	c.(6271-6273)Gcc>Acc	p.A2091T	HECTD1_ENST00000553700.1_Missense_Mutation_p.A2091T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2091	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A2091T(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACCTTGAGGCGCCAAATGCT	0.358																																																	1	Substitution - Missense(1)	prostate(1)											69.0	66.0	67.0					14																	31581629		1857	4091	5948	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6271G>A	14.37:g.31581629C>T	ENSP00000382269:p.Ala2091Thr		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.A2091T	ENST00000399332.1	37	c.6271	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968386	0.74131	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.11821	2.74;2.74	5.86	5.86	0.93980	.	0.000000	0.64402	U	0.000001	T	0.11495	0.0280	L	0.33485	1.01	0.80722	D	1	P	0.47545	0.897	B	0.35240	0.198	T	0.14337	-1.0476	10	0.22109	T	0.4	-13.6828	20.1931	0.98233	0.0:1.0:0.0:0.0	.	2091	Q9ULT8	HECD1_HUMAN	T	2091;2093;2091	ENSP00000450697:A2091T;ENSP00000382269:A2091T	ENSP00000261312:A2093T	A	-	1	0	HECTD1	30651380	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	GCC	HECTD1	-	NULL	ENSG00000092148		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1		0.00	47	0	C			31581629	-1			no_errors	ENST00000399332	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112685315	112685315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:112685315C>A	ENST00000430131.2	-	27	4167	c.3022G>T	c.(3022-3024)Gaa>Taa	p.E1008*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E1284*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E1258*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1008					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAGGAGACTTCCTTCATTGAA	0.318																																																	0													58.0	53.0	55.0					12																	112685315		1826	4072	5898	SO:0001587	stop_gained	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3022G>T	12.37:g.112685315C>A	ENSP00000404379:p.Glu1008*		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.E1258*	ENST00000430131.2	37	c.3772		12	.	.	.	.	.	.	.	.	.	.	C	50	16.551411	0.99866	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0	0.92829	0.0:1.0:0.0:0.0	.	.	.	.	X	1258;1008;1284	.	ENSP00000366783:E1258X	E	-	1	0	C12orf51	111169698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.479000	0.83701	0.650000	0.86243	GAA	HECTD4	-	NULL	ENSG00000173064		0.318	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	52	0	C	NM_173813		112685315	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63918207	63918207	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:63918207G>A	ENST00000443617.2	-	71	13339	c.13252C>T	c.(13252-13254)Ctg>Ttg	p.L4418L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4418					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTAAGGTTCAGCAGTCTCCAG	0.597																																																	0													63.0	65.0	64.0					15																	63918207		2071	4203	6274	SO:0001819	synonymous_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13252C>T	15.37:g.63918207G>A			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L4418	ENST00000443617.2	37	c.13252	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.597	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	27	0	G	NM_003922		63918207	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.999	A
HSPA1L	3305	genome.wustl.edu	37	6	31783357	31783357	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:31783357C>T	ENST00000417199.3	-	1	80		c.e1+1		HSPA1A_ENST00000608703.1_5'UTR|HSPA1L_ENST00000375654.4_5'Flank|HSPA1A_ENST00000458062.2_5'UTR|HSPA1A_ENST00000375651.5_5'UTR			P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like						binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGTCCACTACCTTTTTCGAG	0.612																																																	0																																										SO:0001630	splice_region_variant	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000417199.3:c.12+1G>A	6.37:g.31783357C>T			A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Splice_Site	SNP	-	e0+1	ENST00000417199.3	37	c.1+1	CCDS34413.1	6																																																																																			HSPA1L	-	-	ENSG00000204390		0.612	HSPA1L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	-	0.00	15	0	C		Intron	31783357	-1	tier1	-	no_errors	ENST00000417199	ensembl	human	known	74_37	splice_site	76.32	9	29	SNP	0.000	T
INO80	54617	genome.wustl.edu	37	15	41289774	41289774	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:41289774T>G	ENST00000361937.3	-	29	3947	c.3523A>C	c.(3523-3525)Agc>Cgc	p.S1175R	INO80_ENST00000401393.3_Missense_Mutation_p.S1175R|RP11-540O11.6_ENST00000561388.1_RNA|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1175	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCGTGTGCTTAACAGGAAC	0.398																																																	0													131.0	115.0	120.0					15																	41289774		2203	4300	6503	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3523A>C	15.37:g.41289774T>G	ENSP00000355205:p.Ser1175Arg		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1175R	ENST00000361937.3	37	c.3523	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	T	33	5.231659	0.95207	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.80033	-1.33;-1.33	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96904	0.9662	10	0.87932	D	0	.	15.3428	0.74311	0.0:0.0:0.0:1.0	.	1175	Q9ULG1	INO80_HUMAN	R	1175	ENSP00000355205:S1175R;ENSP00000384686:S1175R	ENSP00000355205:S1175R	S	-	1	0	INO80	39077066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.785000	0.85724	2.008000	0.58898	0.533000	0.62120	AGC	INO80	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000128908		0.398	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0.00	75	0	T	NM_017553		41289774	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	37.93	35	22	SNP	1.000	G
IRS1	3667	genome.wustl.edu	37	2	227661909	227661909	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:227661909C>G	ENST00000305123.5	-	1	2566	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	516					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTATCCAGATCTGCAGCACTG	0.582											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54.0	58.0	56.0					2																	227661909		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1546G>C	2.37:g.227661909C>G	ENSP00000304895:p.Asp516His	2321		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.D516H	ENST00000305123.5	37	c.1546	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011642	0.35511	.	.	ENSG00000169047	ENST00000305123	T	0.61859	0.07	4.85	4.85	0.62838	.	0.064283	0.64402	D	0.000013	T	0.64338	0.2589	L	0.42245	1.32	0.43846	D	0.996432	D	0.62365	0.991	P	0.54401	0.751	T	0.68413	-0.5415	10	0.72032	D	0.01	-18.6238	18.1485	0.89667	0.0:1.0:0.0:0.0	.	516	P35568	IRS1_HUMAN	H	516	ENSP00000304895:D516H	ENSP00000304895:D516H	D	-	1	0	IRS1	227370153	0.991000	0.36638	0.760000	0.31359	0.627000	0.37826	5.759000	0.68785	2.511000	0.84671	0.555000	0.69702	GAT	IRS1	-	NULL	ENSG00000169047		0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0.00	33	0	C	NM_005544		227661909	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.987	G
KCNH2	3757	genome.wustl.edu	37	7	150648579	150648579	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:150648579G>T	ENST00000262186.5	-	7	2303	c.1902C>A	c.(1900-1902)acC>acA	p.T634T	KCNH2_ENST00000430723.3_Silent_p.T634T|KCNH2_ENST00000330883.4_Silent_p.T294T|KCNH2_ENST00000392968.2_Silent_p.T538T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	634					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCTCTGAGTTGGTGTTGGGAG	0.612																																					GBM(137;110 1844 13671 20123 45161)												0													98.0	93.0	94.0					7																	150648579		2203	4300	6503	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1902C>A	7.37:g.150648579G>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.T634	ENST00000262186.5	37	c.1902	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom	ENSG00000055118		0.612	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0.00	92	0	G	NM_000238		150648579	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T
KDM3B	51780	genome.wustl.edu	37	5	137759773	137759773	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:137759773A>T	ENST00000314358.5	+	16	4182	c.3982A>T	c.(3982-3984)Agc>Tgc	p.S1328C	KDM3B_ENST00000394866.1_Missense_Mutation_p.S984C|KDM3B_ENST00000542866.1_Missense_Mutation_p.S360C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGTGAAGAGCAAGGCCAG	0.468																																																	0													142.0	142.0	142.0					5																	137759773		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3982A>T	5.37:g.137759773A>T	ENSP00000326563:p.Ser1328Cys		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S1328C	ENST00000314358.5	37	c.3982	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779470	0.70107	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.71579	0.01;-0.58;-0.58	5.95	5.95	0.96441	.	0.390451	0.32372	N	0.006191	T	0.62036	0.2395	L	0.27053	0.805	0.24248	N	0.995336	P;B	0.37276	0.589;0.014	B;B	0.43331	0.416;0.01	T	0.60419	-0.7267	10	0.56958	D	0.05	-8.9879	8.3954	0.32553	0.8509:0.0:0.1491:0.0	.	984;1328	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	1328;1118;984;360	ENSP00000326563:S1328C;ENSP00000378335:S984C;ENSP00000439462:S360C	ENSP00000326563:S1328C	S	+	1	0	KDM3B	137787672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.529000	0.45632	2.276000	0.75962	0.460000	0.39030	AGC	KDM3B	-	NULL	ENSG00000120733		0.468	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	87	0	A	NM_016604		137759773	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
CEP162	22832	genome.wustl.edu	37	6	84936126	84936126	+	5'UTR	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:84936126A>G	ENST00000403245.3	-	0	100				KIAA1009_ENST00000257766.4_Intron	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAATTTTGACCTCCCAAAG	0.333																																																	0													48.0	44.0	45.0					6																	84936126		1836	4076	5912	SO:0001623	5_prime_UTR_variant	0																														ENST00000403245.3:c.-15T>C	6.37:g.84936126A>G				RNA	SNP	-	NULL	ENST00000403245.3	37	NULL	CCDS34494.2	6																																																																																			KIAA1009	-	-	ENSG00000135315		0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	-	0.00	27	0	A			84936126	-1	tier1	-	no_errors	ENST00000497936	ensembl	human	known	74_37	rna	37.50	10	6	SNP	0.004	G
KIAA1875	340390	genome.wustl.edu	37	8	145162978	145162978	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145162978G>T	ENST00000323662.8	+	2	154	c.129G>T	c.(127-129)gaG>gaT	p.E43D				A6NE52	K1875_HUMAN	KIAA1875	43										large_intestine(1)	1						CTTTCACGGAGCCGTCGCAGG	0.667																																																	0																																										SO:0001583	missense	0			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.129G>T	8.37:g.145162978G>T	ENSP00000320648:p.Glu43Asp		Q96JF2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E43D	ENST00000323662.8	37	c.129		8	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391162	0.25118	.	.	ENSG00000179698	ENST00000323662	T	0.61510	0.1	3.64	2.74	0.32292	.	0.454705	0.16374	N	0.217189	T	0.40743	0.1129	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19614	-1.0300	7	0.21014	T	0.42	-18.605	5.5589	0.17131	0.1122:0.201:0.6867:0.0	.	.	.	.	D	43	ENSP00000320648:E43D	ENSP00000320648:E43D	E	+	3	2	KIAA1875	145234966	0.026000	0.19158	0.003000	0.11579	0.189000	0.23516	0.073000	0.14640	1.095000	0.41419	0.561000	0.74099	GAG	KIAA1875	-	NULL	ENSG00000179698		0.667	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	KIAA1875	HGNC	protein_coding	OTTHUMT00000382917.1	-	0.00	34	0	G	NM_032529		145162978	+1	tier1	-	no_errors	ENST00000534167	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.002	T
KIDINS220	57498	genome.wustl.edu	37	2	8919862	8919864	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:8919862_8919864delACC	ENST00000256707.3	-	18	2491_2493	c.2310_2312delGGT	c.(2308-2313)gtggtc>gtc	p.770_771VV>V	KIDINS220_ENST00000418530.1_In_Frame_Del_p.728_729VV>V|KIDINS220_ENST00000473731.1_In_Frame_Del_p.770_771VV>V|KIDINS220_ENST00000427284.1_In_Frame_Del_p.770_771VV>V|KIDINS220_ENST00000319688.5_In_Frame_Del_p.771_772VV>V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	770	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCGATGATGACCACCAGCCTTG	0.458																																																	0																																										SO:0001651	inframe_deletion	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2310_2312delGGT	2.37:g.8919865_8919867delACC	ENSP00000256707:p.Val771del		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	In_Frame_Del	DEL	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V771in_frame_del	ENST00000256707.3	37	c.2312_2310	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0.00	67	0	ACC	NM_020738		8919864	-1	tier1		no_errors	ENST00000256707	ensembl	human	known	74_37	in_frame_del	15.85	69	13	DEL	0.999:1.000:0.989	-
KLHL29	114818	genome.wustl.edu	37	2	23926139	23926139	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:23926139G>A	ENST00000486442.1	+	12	2906	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	730										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						GTGTGTGGCGGCAAGATCTAC	0.602																																																	0													54.0	57.0	56.0					2																	23926139		692	1591	2283	SO:0001583	missense	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.2189G>A	2.37:g.23926139G>A	ENSP00000420659:p.Gly730Asp		Q8N388|Q96BF0|Q96PW7	Missense_Mutation	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.G730D	ENST00000486442.1	37	c.2189	CCDS54335.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988558	0.93106	.	.	ENSG00000119771	ENST00000486442	T	0.70986	-0.53	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.73372	2.23	0.80722	D	1	D	0.57899	0.981	P	0.59357	0.856	D	0.84033	0.0360	10	0.66056	D	0.02	.	18.6119	0.91288	0.0:0.0:1.0:0.0	.	510	Q96CT2	KLH29_HUMAN	D	730	ENSP00000420659:G730D	ENSP00000420659:G730D	G	+	2	0	KLHL29	23779643	1.000000	0.71417	0.974000	0.42286	0.772000	0.43724	9.869000	0.99810	2.479000	0.83701	0.467000	0.42956	GGC	KLHL29	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000119771		0.602	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	-	0.00	47	0	G	NM_052920		23926139	+1	tier1	-	no_errors	ENST00000486442	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
KRT7	3855	genome.wustl.edu	37	12	52642618	52642618	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:52642618C>T	ENST00000331817.5	+	0	1667				KRT86_ENST00000544024.1_5'Flank|KRT121P_ENST00000529785.1_RNA|KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7						viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCCTCCCATGCCTGGTCCCAA	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.*74C>T	12.37:g.52642618C>T			Q92676|Q9BUD8|Q9Y3R7	RNA	SNP	-	NULL	ENST00000331817.5	37	NULL	CCDS8822.1	12																																																																																			KRT7	-	-	ENSG00000135480		0.577	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	HGNC	protein_coding	OTTHUMT00000404897.1	-	0.00	9	0	C	NM_005556		52642618	+1	tier1	-	no_errors	ENST00000552322	ensembl	human	known	74_37	rna	29.41	12	5	SNP	0.119	T
LAMA4	3910	genome.wustl.edu	37	6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T	rs576711704		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T|LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358																																																	0													325.0	261.0	283.0					6																	112506519		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.997G>A	6.37:g.112506519C>T	ENSP00000230538:p.Ala333Thr		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.A333T	ENST00000230538.7	37	c.997	CCDS43491.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585861|1.585861	0.28268|0.28268	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881|ENST00000521732	T;T;T;T|.	0.10005|.	2.92;2.92;2.92;2.92|.	5.44|5.44	-0.216|-0.216	0.13153|0.13153	Laminin I (1);|.	0.738651|.	0.13538|.	N|.	0.380437|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.03608|0.03608	-0.345|-0.345	0.53005|0.53005	D|D	0.999962|0.999962	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.11792|0.11792	-1.0573|-1.0573	10|5	0.15499|.	T|.	0.54|.	.|.	5.194|5.194	0.15225|0.15225	0.0:0.4433:0.1472:0.4095|0.0:0.4433:0.1472:0.4095	.|.	333;326|.	Q16363;Q16363-2|.	LAMA4_HUMAN;.|.	T|H	333;326;326;326;333|145	ENSP00000230538:A333T;ENSP00000429488:A326T;ENSP00000374114:A326T;ENSP00000416470:A326T|.	ENSP00000230538:A333T|.	A|R	-|-	1|2	0|0	LAMA4|LAMA4	112613212|112613212	0.215000|0.215000	0.23574|0.23574	0.943000|0.943000	0.38184|0.38184	0.976000|0.976000	0.68499|0.68499	-0.116000|-0.116000	0.10724|0.10724	0.112000|0.112000	0.17975|0.17975	0.655000|0.655000	0.94253|0.94253	GCC|CGC	LAMA4	-	pfam_Laminin_I	ENSG00000112769		0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0.00	72	0	C	NM_001105206		112506519	-1			no_errors	ENST00000230538	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.877	T
LAMA2	3908	genome.wustl.edu	37	6	129766888	129766888	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:129766888G>T	ENST00000421865.2	+	45	6400	c.6351G>T	c.(6349-6351)aaG>aaT	p.K2117N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2117	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACCCATCAAGGAACTTGAGG	0.383																																																	0													66.0	62.0	63.0					6																	129766888		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6351G>T	6.37:g.129766888G>T	ENSP00000400365:p.Lys2117Asn		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K2117N	ENST00000421865.2	37	c.6351	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496883	0.64186	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.52057	0.68	5.23	2.37	0.29283	Laminin II (1);	0.100285	0.64402	D	0.000003	T	0.37433	0.1003	L	0.46741	1.465	0.33735	D	0.618709	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.25363	-1.0134	10	0.26408	T	0.33	.	4.0275	0.09693	0.345:0.0:0.4937:0.1612	.	2118;2117	A6NF00;P24043	.;LAMA2_HUMAN	N	2117;2116;2117;135	ENSP00000400365:K2117N	ENSP00000346769:K2116N	K	+	3	2	LAMA2	129808581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.360000	0.44151	0.566000	0.29273	0.655000	0.94253	AAG	LAMA2	-	pfam_Laminin_II	ENSG00000196569		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0.00	29	0	G			129766888	+1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
LIMK2	3985	genome.wustl.edu	37	22	31654300	31654300	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:31654300T>C	ENST00000331728.4	+	3	254	c.140T>C	c.(139-141)cTc>cCc	p.L47P	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.L26P|LIMK2_ENST00000340552.4_Missense_Mutation_p.L26P	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	47	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAGGATTCCCTCACCAACTGG	0.522																																																	0													171.0	160.0	164.0					22																	31654300		2203	4300	6503	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.140T>C	22.37:g.31654300T>C	ENSP00000332687:p.Leu47Pro		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L47P	ENST00000331728.4	37	c.140	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686246	0.88639	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.66	5.66	0.87406	Zinc finger, LIM-type (5);	0.062617	0.64402	N	0.000003	D	0.98375	0.9460	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99698	1.1003	10	0.87932	D	0	-31.1655	15.0663	0.71999	0.0:0.0:0.0:1.0	.	79;26;47	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	P	47;26;79;26;26	ENSP00000332687:L47P;ENSP00000388422:L26P;ENSP00000330470:L26P;ENSP00000339916:L26P	ENSP00000332687:L47P	L	+	2	0	LIMK2	29984300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	CTC	LIMK2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000182541		0.522	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	-	0.00	90	0	T	NM_016733		31654300	+1	tier1	-	no_errors	ENST00000331728	ensembl	human	known	74_37	missense	42.25	41	30	SNP	1.000	C
LINC00221	338005	genome.wustl.edu	37	14	106950481	106950481	+	lincRNA	SNP	A	A	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:106950481A>C	ENST00000334298.3	+	0	676					NR_027457.2				long intergenic non-protein coding RNA 221																		acagacatgaaaaaaatttcc	0.348																																																	0																																												0			AK058096		14q32.33	2013-05-31	2011-08-11	2011-08-11	ENSG00000187156	ENSG00000270816		"""Long non-coding RNAs"""	20169	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 98"", ""non-protein coding RNA 221"""	C14orf98, NCRNA00221			Standard	NR_027457		Approved		uc001ysy.2		OTTHUMG00000152084		14.37:g.106950481A>C				RNA	SNP	-	NULL	ENST00000334298.3	37	NULL		14																																																																																			LINC00221	-	-	ENSG00000187156		0.348	LINC00221-002	KNOWN	basic	lincRNA	LINC00221	HGNC	lincRNA	OTTHUMT00000325180.1		0.00	26	0	A	NR_027457		106950481	+1			no_errors	ENST00000334298	ensembl	human	known	74_37	rna	32.00	17	8	SNP	0.017	C
C7orf13	129790	genome.wustl.edu	37	7	156432547	156432547	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:156432547G>A	ENST00000333319.6	-	0	801				RNF32_ENST00000317955.5_5'Flank|RNF32_ENST00000432459.2_5'Flank|RNF32_ENST00000405335.1_5'Flank|RNF32_ENST00000311822.8_5'Flank			Q8NI28	CG013_HUMAN	chromosome 7 open reading frame 13							integral component of membrane (GO:0016021)											TCTAGCTCGCGACAGCCCCTG	0.632																																																	0																																										SO:0001624	3_prime_UTR_variant	0					7q36.3	2013-01-15			ENSG00000244291	ENSG00000244291			17126	other	unknown		610242				11890671	Standard	NR_026865		Approved	MY040	uc003wmm.3	Q8NI28	OTTHUMG00000157237	ENST00000333319.6:c.*151C>T	7.37:g.156432547G>A				RNA	SNP	-	NULL	ENST00000333319.6	37	NULL		7																																																																																			LINC01006	-	-	ENSG00000182648		0.632	C7orf13-001	KNOWN	basic|appris_principal	protein_coding	LINC01006	HGNC	protein_coding	OTTHUMT00000348106.1	-	0.00	16	0	G	NR_026865		156432547	-1	tier1	-	no_errors	ENST00000435354	ensembl	human	known	74_37	rna	34.62	17	9	SNP	0.000	A
LMBRD2	92255	genome.wustl.edu	37	5	36137524	36137524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:36137524G>A	ENST00000296603.4	-	5	850	c.388C>T	c.(388-390)Cag>Tag	p.Q130*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	130						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATATGACTGCATAAAAGGT	0.333																																																	0													65.0	65.0	65.0					5																	36137524		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.388C>T	5.37:g.36137524G>A	ENSP00000296603:p.Gln130*		B3KRB6|Q9NTC7	Nonsense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.Q130*	ENST00000296603.4	37	c.388	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.318679	0.99135	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.6352	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	X	130;24	.	ENSP00000296603:Q130X	Q	-	1	0	LMBRD2	36173281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.135000	0.94478	2.699000	0.92147	0.655000	0.94253	CAG	LMBRD2	-	pfam_LMBR1-like_membr_prot	ENSG00000164187		0.333	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1		0.00	56	0	G	NM_001007527		36137524	-1			no_errors	ENST00000296603	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A
LINC01410	103352539	genome.wustl.edu	37	9	66457330	66457330	+	lincRNA	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:66457330G>T	ENST00000424345.1	+	0	42				RNA5SP283_ENST00000365604.1_RNA																							cagcgacagagccttggagag	0.632																																																	0																																												0																															9.37:g.66457330G>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.632	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	-	0.00	111	0	G			66457330	+1	tier1	-	no_errors	ENST00000424345	ensembl	human	known	74_37	rna	12.39	99	14	SNP	0.200	T
RNU1-5P	107105261	genome.wustl.edu	37	1	17198742	17198742	+	lincRNA	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:17198742T>A	ENST00000362684.1	+	0	0																											CGCTCCCGCCTCCTCCTGGCA	0.642																																																	0																																												0																															1.37:g.17198742T>A				RNA	SNP	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			U1	-	-	ENSG00000228549		0.642	U1.1-201	KNOWN	basic	snRNA	LOC101927806	RFAM	lincRNA		-	0.00	73	0	T			17198742	+1	tier1	-	no_errors	ENST00000438002	ensembl	human	known	74_37	rna	25.33	56	19	SNP	0.016	A
LOC101928401	101928401	genome.wustl.edu	37	7	56604572	56604572	+	lincRNA	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:56604572A>G	ENST00000429367.1	-	0	91																											TTAAGAGTTAATCTGAAAAAC	0.423																																																	0																																												0																															7.37:g.56604572A>G				RNA	SNP	-	NULL	ENST00000429367.1	37	NULL		7																																																																																			RP11-760D2.5	-	-	ENSG00000233288		0.423	RP11-760D2.5-001	KNOWN	basic	lincRNA	LOC101928401	Clone_based_vega_gene	lincRNA	OTTHUMT00000343750.1	-	0.00	10	0	A			56604572	-1	tier1	-	no_errors	ENST00000429367	ensembl	human	known	74_37	rna	26.67	11	4	SNP	0.245	G
MYT1L	23040	genome.wustl.edu	37	2	2328165	2328165	+	Intron	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:2328165C>A	ENST00000399161.2	-	1	228				MYT1L_ENST00000428368.2_Intron|AC009232.2_ENST00000448106.1_lincRNA	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGAACGCCCACCATTTGTTCT	0.493																																																	0																																										SO:0001627	intron_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.520+6573G>T	2.37:g.2328165C>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			AC009232.2	-	-	ENSG00000225619		0.493	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	LOC730811	Clone_based_vega_gene	protein_coding	OTTHUMT00000322493.1	-	0.00	8	0	C	NM_015025		2328165	+1	tier1	-	no_errors	ENST00000422175	ensembl	human	known	74_37	rna	38.46	8	5	SNP	1.000	A
LRIG2	9860	genome.wustl.edu	37	1	113667283	113667283	+	3'UTR	DEL	T	T	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:113667283delT	ENST00000361127.5	+	0	3956				LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTCTTGTGAATTTTTTTTTTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.*560T>-	1.37:g.113667283delT			Q9NSN2	RNA	DEL	-	NULL	ENST00000361127.5	37	NULL	CCDS30808.1	1																																																																																			LRIG2	-	-	ENSG00000198799		0.363	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2		0.00	17	0	T	NM_014813		113667283	+1	tier1		no_errors	ENST00000466161	ensembl	human	known	74_37	rna	25.00	12	4	DEL	0.014	-
LRP4	4038	genome.wustl.edu	37	11	46896435	46896435	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:46896435G>T	ENST00000378623.1	-	28	4387	c.4145C>A	c.(4144-4146)cCt>cAt	p.P1382H	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1382					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTGAGCTCAGGAACAGGGAC	0.522																																																	0													161.0	131.0	141.0					11																	46896435		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4145C>A	11.37:g.46896435G>T	ENSP00000367888:p.Pro1382His		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P1382H	ENST00000378623.1	37	c.4145	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007234	0.75046	.	.	ENSG00000134569	ENST00000378623	D	0.91577	-2.87	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89164	0.6637	L	0.58583	1.82	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.84228	0.0465	10	0.22706	T	0.39	.	19.7824	0.96422	0.0:0.0:1.0:0.0	.	1382	O75096	LRP4_HUMAN	H	1382	ENSP00000367888:P1382H	ENSP00000367888:P1382H	P	-	2	0	LRP4	46853011	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.760000	0.85248	2.677000	0.91161	0.561000	0.74099	CCT	LRP4	-	smart_LDLR_classB_rpt	ENSG00000134569		0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0.00	39	0	G	NM_002334		46896435	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.999	T
LRRC16A	55604	genome.wustl.edu	37	6	25540196	25540196	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:25540196G>T	ENST00000329474.6	+	26	2586	c.2218G>T	c.(2218-2220)Gtt>Ttt	p.V740F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	740					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTTATACCATGTTGGTGGTGC	0.398																																																	0													62.0	57.0	59.0					6																	25540196		1834	4091	5925	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2218G>T	6.37:g.25540196G>T	ENSP00000331983:p.Val740Phe		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V740F	ENST00000329474.6	37	c.2218	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060774	0.55432	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17054	2.3	5.93	5.93	0.95920	.	0.158654	0.43919	D	0.000501	T	0.07818	0.0196	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.44090	0.608;0.734;0.826;0.734	B;B;B;B	0.39419	0.235;0.235;0.299;0.235	T	0.07908	-1.0748	10	0.45353	T	0.12	.	14.4883	0.67631	0.0:0.255:0.745:0.0	.	740;740;740;740	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	F	740	ENSP00000331983:V740F	ENSP00000331983:V740F	V	+	1	0	LRRC16A	25648175	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.123000	0.57917	2.803000	0.96430	0.650000	0.86243	GTT	LRRC16A	-	NULL	ENSG00000079691		0.398	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2		0.00	56	0	G	NM_017640		25540196	+1			no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	16.00	21	4	SNP	1.000	T
MAP3K19	80122	genome.wustl.edu	37	2	135744302	135744302	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:135744302T>C	ENST00000375845.3	-	7	2170	c.2140A>G	c.(2140-2142)Aca>Gca	p.T714A	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T601A|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T731A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	714							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GAAAGTCTTGTTCTGATATTG	0.373																																																	0													134.0	130.0	131.0					2																	135744302		2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2140A>G	2.37:g.135744302T>C	ENSP00000365005:p.Thr714Ala		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.T714A	ENST00000375845.3	37	c.2140	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	T	2.402	-0.337398	0.05278	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72505	-0.5;-0.5;1.89;-0.66	5.61	-5.13	0.02884	.	1.060120	0.07351	N	0.882360	T	0.48241	0.1489	N	0.12746	0.255	0.09310	N	0.999995	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.14578	0.002;0.011;0.001	T	0.32375	-0.9909	10	0.23302	T	0.38	.	11.0133	0.47675	0.0902:0.5204:0.0:0.3895	.	601;731;714	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	714;601;731;104	ENSP00000365005:T714A;ENSP00000351140:T601A;ENSP00000376647:T731A;ENSP00000392827:T104A	ENSP00000351140:T601A	T	-	1	0	YSK4	135460772	0.011000	0.17503	0.001000	0.08648	0.314000	0.28054	-0.865000	0.04250	-1.107000	0.03004	0.418000	0.28097	ACA	MAP3K19	-	NULL	ENSG00000176601		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0.00	53	0	T	NM_025052		135744302	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	57.81	27	37	SNP	0.000	C
CD302	9936	genome.wustl.edu	37	2	160637480	160637480	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:160637480C>T	ENST00000259053.4	-	3	251	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	LY75_ENST00000554112.1_Missense_Mutation_p.E1711K|CD302_ENST00000429078.2_Missense_Mutation_p.E70K|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1655K|LY75_ENST00000553424.1_Missense_Mutation_p.E1655K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1711K	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	70	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GCATTTTCTTCTTCATTATGT	0.323																																																	0													114.0	106.0	109.0					2																	160637480		2203	4300	6503	SO:0001583	missense	0			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.208G>A	2.37:g.160637480C>T	ENSP00000259053:p.Glu70Lys		A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.E1711K	ENST00000259053.4	37	c.5131	CCDS33308.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963771	0.92791	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.21	5.21	0.72293	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.070662	0.52532	D	0.000064	T	0.49098	0.1537	M	0.78049	2.395	0.32427	N	0.548501	D;D;D;D	0.89917	0.998;0.994;0.994;1.0	D;D;D;D	0.75484	0.968;0.938;0.938;0.986	T	0.58836	-0.7566	10	0.49607	T	0.09	-30.1279	17.9247	0.88979	0.0:1.0:0.0:0.0	.	70;1655;1711;70	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	K	70;70;1711;1655;1711;1655	ENSP00000259053:E70K;ENSP00000394301:E70K;ENSP00000451511:E1711K;ENSP00000451446:E1655K;ENSP00000423463:E1711K;ENSP00000421035:E1655K	ENSP00000259053:E70K	E	-	1	0	LY75;CD302;LY75-CD302	160345726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.211000	0.42825	2.593000	0.87608	0.655000	0.94253	GAA	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.323	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000333760.1	-	0.00	54	0	C	NM_014880		160637480	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	26.25	58	21	SNP	1.000	T
MCM8	84515	genome.wustl.edu	37	20	5958593	5958593	+	Silent	SNP	A	A	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:5958593A>C	ENST00000378896.3	+	13	1844	c.1467A>C	c.(1465-1467)gtA>gtC	p.V489V	MCM8_ENST00000265187.4_Silent_p.V473V|MCM8_ENST00000378883.1_Silent_p.V442V|MCM8_ENST00000378886.2_Silent_p.V529V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	489	MCM.|Thr-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GTCTGACGGTAACTCTTTCAA	0.458																																																	0													111.0	94.0	100.0					20																	5958593		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1467A>C	20.37:g.5958593A>C			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.V529	ENST00000378896.3	37	c.1587	CCDS13094.1	20																																																																																			MCM8	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000125885		0.458	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	-	0.00	97	0	A	NM_032485		5958593	+1	tier1	-	no_errors	ENST00000378886	ensembl	human	known	74_37	silent	38.00	62	38	SNP	0.605	C
MDN1	23195	genome.wustl.edu	37	6	90399740	90399740	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:90399740C>T	ENST00000369393.3	-	65	10987	c.10872G>A	c.(10870-10872)atG>atA	p.M3624I	MDN1_ENST00000428876.1_Missense_Mutation_p.M3624I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3624					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGTATCAGCATTACTGCCT	0.493																																																	0													177.0	140.0	153.0					6																	90399740		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10872G>A	6.37:g.90399740C>T	ENSP00000358400:p.Met3624Ile		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.M3624I	ENST00000369393.3	37	c.10872	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662012	0.14645	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.84	5.84	0.93424	.	0.199584	0.52532	D	0.000063	T	0.02455	0.0075	M	0.63428	1.95	0.42321	D	0.99225	B	0.15473	0.013	B	0.11329	0.006	T	0.50524	-0.8818	10	0.21014	T	0.42	.	20.1216	0.97962	0.0:1.0:0.0:0.0	.	3624	Q9NU22	MDN1_HUMAN	I	3624	ENSP00000358400:M3624I;ENSP00000413970:M3624I	ENSP00000358400:M3624I	M	-	3	0	MDN1	90456461	0.999000	0.42202	0.988000	0.46212	0.050000	0.14768	2.215000	0.42862	2.762000	0.94881	0.563000	0.77884	ATG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	51	0	C			90399740	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.988	T
MED12	9968	genome.wustl.edu	37	X	70361121	70361121	+	Silent	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:70361121A>G	ENST00000374080.3	+	43	6341	c.6309A>G	c.(6307-6309)caA>caG	p.Q2103Q	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_Silent_p.Q2102Q|MED12_ENST00000333646.6_Silent_p.Q2106Q			Q93074	MED12_HUMAN	mediator complex subunit 12	2103	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Q2103Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					agcagcagcaacagcaacagc	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - coding silent(2)	endometrium(2)											15.0	22.0	19.0					X																	70361121		1904	3595	5499	SO:0001819	synonymous_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6309A>G	X.37:g.70361121A>G			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2106	ENST00000374080.3	37	c.6318	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	-	0.00	55	0	A	NM_005120		70361121	+1	tier1	-	no_errors	ENST00000333646	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.916	G
MED23	9439	genome.wustl.edu	37	6	131926512	131926512	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:131926512G>C	ENST00000368068.3	-	14	1660	c.1481C>G	c.(1480-1482)gCt>gGt	p.A494G	MED23_ENST00000368053.4_Missense_Mutation_p.A500G|MED23_ENST00000354577.4_Missense_Mutation_p.A500G|MED23_ENST00000539158.1_Intron|MED23_ENST00000368060.3_Missense_Mutation_p.A494G|MED23_ENST00000545957.1_Missense_Mutation_p.A135G|MED23_ENST00000368058.1_Missense_Mutation_p.A500G|MED23_ENST00000403834.3_Missense_Mutation_p.A500G|MED23_ENST00000540546.1_Missense_Mutation_p.A500G	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	494					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTACCAGAGCTCCCATGGG	0.363																																																	0													90.0	88.0	89.0					6																	131926512		2202	4300	6502	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1481C>G	6.37:g.131926512G>C	ENSP00000357047:p.Ala494Gly		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.A500G	ENST00000368068.3	37	c.1499	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448453	0.63178	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.87	4.89	0.63831	.	0.102686	0.64402	D	0.000003	T	0.59500	0.2198	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.30114	0.269;0.033;0.269;0.227	B;B;B;B	0.35899	0.213;0.028;0.213;0.135	T	0.66559	-0.5893	10	0.72032	D	0.01	2.8304	3.8985	0.09150	0.3226:0.0:0.6774:0.0	.	135;500;494;500	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	G	500;494;500;494;500;135;500;500	ENSP00000346588:A500G;ENSP00000357047:A494G;ENSP00000384536:A500G;ENSP00000357039:A494G;ENSP00000357037:A500G;ENSP00000439977:A135G;ENSP00000357032:A500G;ENSP00000437818:A500G	ENSP00000346588:A500G	A	-	2	0	MED23	131968205	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.463000	0.73530	2.779000	0.95612	0.591000	0.81541	GCT	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.363	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0.00	67	0	G			131926512	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	C
METTL21EP	121952	genome.wustl.edu	37	13	103543694	103543694	+	lincRNA	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:103543694G>T	ENST00000607072.1	+	0	1954				METTL21EP_ENST00000605100.1_RNA																							AGACACCAGAGAAGCCTATGA	0.363																																																	0																																												0																															13.37:g.103543694G>T				RNA	SNP	-	NULL	ENST00000607072.1	37	NULL		13																																																																																			METTL21EP	-	-	ENSG00000250878		0.363	RP11-255P5.2-001	KNOWN	basic	lincRNA	METTL21EP	HGNC	lincRNA	OTTHUMT00000471205.1		0.00	93	0	G			103543694	+1			no_errors	ENST00000605100	ensembl	human	known	74_37	rna	7.02	53	4	SNP	0.076	T
METTL4	64863	genome.wustl.edu	37	18	2554995	2554995	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:2554995C>T	ENST00000574538.1	-	4	1277	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	METTL4_ENST00000319888.6_Missense_Mutation_p.E168K|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	168					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTGAGACCTTCCTGGATCAAC	0.363																																																	0													116.0	134.0	128.0					18																	2554995		2203	4300	6503	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.502G>A	18.37:g.2554995C>T	ENSP00000458290:p.Glu168Lys		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.E168K	ENST00000574538.1	37	c.502	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028677	0.54790	.	.	ENSG00000101574	ENST00000319888	T	0.24350	1.86	5.74	4.87	0.63330	.	0.318441	0.32852	N	0.005572	T	0.25269	0.0614	L	0.56769	1.78	0.41650	D	0.989128	B	0.29909	0.261	B	0.21546	0.035	T	0.03212	-1.1060	10	0.33940	T	0.23	-10.1025	14.179	0.65562	0.0:0.9286:0.0:0.0714	.	168	Q8N3J2	METL4_HUMAN	K	168	ENSP00000320349:E168K	ENSP00000320349:E168K	E	-	1	0	METTL4	2544995	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	3.824000	0.55723	2.695000	0.91970	0.655000	0.94253	GAA	METTL4	-	NULL	ENSG00000101574		0.363	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	-	0.00	61	0	C	NM_022840		2554995	-1	tier1	-	no_errors	ENST00000574538	ensembl	human	known	74_37	missense	27.40	52	20	SNP	1.000	T
GLIDR	389741	genome.wustl.edu	37	9	66554691	66554691	+	lincRNA	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:66554691T>A	ENST00000305709.5	+	0	1304				RP11-262H14.3_ENST00000445604.2_lincRNA	NR_015363.1																						TGTTTGTGTGTCAAGGGGTAT	0.328																																																	0																																												0																															9.37:g.66554691T>A				RNA	SNP	-	NULL	ENST00000305709.5	37	NULL		9																																																																																			RP11-262H14.4	-	-	ENSG00000170161		0.328	RP11-262H14.4-001	KNOWN	basic	lincRNA	MGC21881	Clone_based_vega_gene	lincRNA	OTTHUMT00000037077.1	-	0.00	98	0	T			66554691	+1	tier1	-	no_errors	ENST00000305709	ensembl	human	known	74_37	rna	15.00	85	15	SNP	0.000	A
MICALL2	79778	genome.wustl.edu	37	7	1477570	1477570	+	Missense_Mutation	SNP	G	G	C	rs200430226	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:1477570G>C	ENST00000297508.7	-	13	2533	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	MICALL2_ENST00000405088.4_Missense_Mutation_p.H574Q|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	786	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCTGCTTCTCGTGAATGAGCC	0.637																																																	0													40.0	39.0	39.0					7																	1477570		2101	4129	6230	SO:0001583	missense	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2358C>G	7.37:g.1477570G>C	ENSP00000297508:p.His786Gln		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.H786Q	ENST00000297508.7	37	c.2358	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378489	0.24944	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.42900	0.96;0.96	3.62	-4.44	0.03557	Domain of unknown function DUF3585 (1);	0.000000	0.38005	N	0.001860	T	0.46054	0.1373	L	0.33293	1	0.26714	N	0.970911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.49418	-0.8942	10	0.49607	T	0.09	.	12.8527	0.57867	0.6814:0.0:0.3186:0.0	.	786;574;375	Q8IY33;D3YTD2;Q8IY33-3	MILK2_HUMAN;.;.	Q	574;786	ENSP00000385928:H574Q;ENSP00000297508:H786Q	ENSP00000297508:H786Q	H	-	3	2	MICALL2	1444096	0.001000	0.12720	0.847000	0.33407	0.258000	0.26162	-1.420000	0.02457	-0.974000	0.03550	-0.258000	0.10820	CAC	MICALL2	-	pfam_DUF3585	ENSG00000164877		0.637	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2		0.00	29	0	G	NM_182924		1477570	-1			no_errors	ENST00000297508	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.476	C
TMEM198	130612	genome.wustl.edu	37	2	220413847	220413847	+	Intron	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:220413847G>A	ENST00000344458.2	+	5	1327				TMEM198_ENST00000373883.3_Intron|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198						multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGTCCTCTGAGCTCCTTCTCT	0.587																																																	0													65.0	70.0	68.0					2																	220413847		2203	4299	6502	SO:0001627	intron_variant	0			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.743-27G>A	2.37:g.220413847G>A				RNA	SNP	-	NULL	ENST00000344458.2	37	NULL	CCDS33385.1	2																																																																																			MIR3132	-	-	ENSG00000265252		0.587	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3132	HGNC	protein_coding	OTTHUMT00000131063.1	-	0.00	38	0	G	NM_001005209		220413847	-1	tier1	-	no_errors	ENST00000581997	ensembl	human	known	74_37	rna	43.48	26	20	SNP	0.035	A
MLF1	4291	genome.wustl.edu	37	3	158320686	158320686	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:158320686G>T	ENST00000355893.5	+	6	797	c.659G>T	c.(658-660)aGt>aTt	p.S220I	MLF1_ENST00000482628.1_Missense_Mutation_p.S195I|MLF1_ENST00000484955.1_Missense_Mutation_p.S195I|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000392822.3_Missense_Mutation_p.S251I|MLF1_ENST00000478894.2_Missense_Mutation_p.S210I|MLF1_ENST00000469452.1_Missense_Mutation_p.S152I|MLF1_ENST00000471745.1_Missense_Mutation_p.S210I|MLF1_ENST00000359117.5_Missense_Mutation_p.S195I	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	220					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AGAATGAGAAGTGTTGGCCAT	0.373			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													106.0	101.0	102.0					3																	158320686		2203	4300	6503	SO:0001583	missense	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.659G>T	3.37:g.158320686G>T	ENSP00000348157:p.Ser220Ile		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.S251I	ENST00000355893.5	37	c.752	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143786	0.37825	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	T;T;T;T;T;T;T;T;T;T	0.50548	0.79;0.77;0.78;0.78;0.81;0.77;0.79;0.78;0.77;0.74	5.77	2.53	0.30540	.	0.479972	0.23135	N	0.051540	T	0.41190	0.1148	L	0.29908	0.895	0.09310	N	1	D;P;P	0.54397	0.966;0.918;0.938	P;P;P	0.50896	0.641;0.653;0.548	T	0.23226	-1.0194	10	0.22109	T	0.4	-7.952	10.9915	0.47551	0.2833:0.0:0.7167:0.0	.	152;251;220	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	I	146;220;195;195;175;210;152;195;210;251	ENSP00000420410:S146I;ENSP00000348157:S220I;ENSP00000417835:S195I;ENSP00000352025:S195I;ENSP00000419636:S175I;ENSP00000420134:S210I;ENSP00000418595:S152I;ENSP00000417141:S195I;ENSP00000417777:S210I;ENSP00000376568:S251I	ENSP00000348157:S220I	S	+	2	0	MLF1	159803380	0.124000	0.22315	0.002000	0.10522	0.099000	0.18886	1.169000	0.31871	0.772000	0.33382	0.585000	0.79938	AGT	MLF1	-	NULL	ENSG00000178053		0.373	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	-	0.00	70	0	G	NM_022443		158320686	+1	tier1	-	no_errors	ENST00000392822	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.001	T
MMP1	4312	genome.wustl.edu	37	11	102662186	102662186	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:102662186G>A	ENST00000315274.6	-	8	1141	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	358					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TGGGGTATCCGTGTAGCACAT	0.443																																																	0													245.0	225.0	231.0					11																	102662186		2203	4299	6502	SO:0001819	synonymous_variant	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1074C>T	11.37:g.102662186G>A			P08156	Silent	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.H358	ENST00000315274.6	37	c.1074	CCDS8322.1	11																																																																																			MMP1	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans	ENSG00000196611		0.443	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0.00	55	0	G	NM_002421		102662186	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	A
MOAP1	64112	genome.wustl.edu	37	14	93650312	93650312	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:93650312G>A	ENST00000556883.1	-	2	760	c.276C>T	c.(274-276)atC>atT	p.I92I	MOAP1_ENST00000298894.4_Silent_p.I92I|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	92					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ggggcttaaagatcactctcc	0.483																																																	0													94.0	99.0	98.0					14																	93650312		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.276C>T	14.37:g.93650312G>A			B2RDF6|Q9H833|Q9HAS1	Silent	SNP	NULL	p.I92	ENST00000556883.1	37	c.276	CCDS9908.1	14																																																																																			MOAP1	-	NULL	ENSG00000165943		0.483	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	-	0.00	62	0	G			93650312	-1	tier1	-	no_errors	ENST00000298894	ensembl	human	known	74_37	silent	38.64	27	17	SNP	1.000	A
MRPS30	10884	genome.wustl.edu	37	5	44812022	44812022	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:44812022G>T	ENST00000507110.1	+	3	791	c.753G>T	c.(751-753)gtG>gtT	p.V251V		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	251					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTAAGTTTGTGCCATTGGATT	0.299																																																	0													64.0	66.0	66.0					5																	44812022		2203	4298	6501	SO:0001819	synonymous_variant	0			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.753G>T	5.37:g.44812022G>T			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	pfam_Ribosomal_L37/S30	p.V251	ENST00000507110.1	37	c.753	CCDS3951.1	5																																																																																			MRPS30	-	pfam_Ribosomal_L37/S30	ENSG00000112996		0.299	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	-	0.00	42	0	G	NM_016640		44812022	+1	tier1	-	no_errors	ENST00000507110	ensembl	human	known	74_37	silent	61.76	13	21	SNP	0.990	T
MUC16	94025	genome.wustl.edu	37	19	9049462	9049462	+	Silent	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:9049462A>G	ENST00000397910.4	-	5	32372	c.32169T>C	c.(32167-32169)gcT>gcC	p.A10723A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10725	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATTGGAATAGCTGAACTGG	0.458																																																	0													241.0	214.0	222.0					19																	9049462		1923	4140	6063	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32169T>C	19.37:g.9049462A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A10723	ENST00000397910.4	37	c.32169	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	76	0	A	NM_024690		9049462	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	39.13	42	27	SNP	0.000	G
MUC19	283463	genome.wustl.edu	37	12	40917019	40917019	+	3'UTR	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:40917019G>T	ENST00000474954.1	+	0	733				MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ATCTCCTTTTGTTATGAATTG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.*730G>T	12.37:g.40917019G>T			Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-	ENSG00000205592		0.373	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	-	0.00	17	0	G	XM_003403524		40917019	+1	tier1	-	no_errors	ENST00000474954	ensembl	human	known	74_37	rna	52.94	8	9	SNP	0.002	T
MXI1	4601	genome.wustl.edu	37	10	112045288	112045289	+	3'UTR	INS	-	-	A	rs568171881	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:112045288_112045289insA	ENST00000239007.7	+	0	1448_1449				MXI1_ENST00000332674.5_3'UTR|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ttattattattttttttttttG	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.*544->A	10.37:g.112045288_112045289insA			B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	RNA	INS	-	NULL	ENST00000239007.7	37	NULL	CCDS7564.2	10																																																																																			MXI1	-	-	ENSG00000119950		0.351	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1		0.00	52	0	-	NM_130439		112045289	+1	tier1		no_errors	ENST00000485566	ensembl	human	known	74_37	rna	13.64	38	6	INS	0.000:0.000	A
NBR1	4077	genome.wustl.edu	37	17	41345151	41345151	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:41345151A>G	ENST00000422280.1	+	11	1573	c.1114A>G	c.(1114-1116)Agt>Ggt	p.S372G	NBR1_ENST00000341165.6_Missense_Mutation_p.S372G|NBR1_ENST00000389312.4_Missense_Mutation_p.S372G|NBR1_ENST00000590996.1_Missense_Mutation_p.S372G|NBR1_ENST00000542611.1_Missense_Mutation_p.S351G|NBR1_ENST00000589872.1_Missense_Mutation_p.S372G	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	372					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCCAATGCTCAGTGCAGCATT	0.453																																																	0													100.0	92.0	95.0					17																	41345151		1915	4129	6044	SO:0001583	missense	0			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1114A>G	17.37:g.41345151A>G	ENSP00000411250:p.Ser372Gly		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.S372G	ENST00000422280.1	37	c.1114	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108071	0.56291	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.48201	1.4;0.82;1.4;1.4	6.17	5.1	0.69264	.	0.096018	0.64402	D	0.000001	T	0.41328	0.1154	L	0.46157	1.445	0.41808	D	0.989953	B;B;B;B	0.31548	0.146;0.328;0.185;0.284	B;B;B;B	0.29176	0.079;0.059;0.099;0.059	T	0.33471	-0.9867	10	0.54805	T	0.06	-5.314	12.1341	0.53961	0.934:0.0:0.066:0.0	.	372;351;372;372	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	G	372;351;372;372;372	ENSP00000411250:S372G;ENSP00000437545:S351G;ENSP00000343479:S372G;ENSP00000373963:S372G	ENSP00000343479:S372G	S	+	1	0	NBR1	38598677	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.742000	0.62103	1.166000	0.42689	0.533000	0.62120	AGT	NBR1	-	NULL	ENSG00000188554		0.453	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	-	0.00	56	0	A	NM_005899		41345151	+1	tier1	-	no_errors	ENST00000341165	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	G
NCAPD2	9918	genome.wustl.edu	37	12	6635321	6635321	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:6635321C>T	ENST00000315579.5	+	19	3235	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.A767A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	812					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						ACAGGCTGGCCCAGCAGGTGT	0.522																																																	0													73.0	71.0	71.0					12																	6635321		2203	4300	6503	SO:0001819	synonymous_variant	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.2436C>T	12.37:g.6635321C>T			D3DUR4|Q8N6U3	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.A812	ENST00000315579.5	37	c.2436	CCDS8548.1	12																																																																																			NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.522	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0.00	54	0	C	NM_014865		6635321	+1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	78.26	15	54	SNP	1.000	T
NELFCD	51497	genome.wustl.edu	37	20	57564664	57564664	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:57564664A>C	ENST00000344018.3	+	6	680	c.653A>C	c.(652-654)gAa>gCa	p.E218A	NELFCD_ENST00000602795.1_Missense_Mutation_p.E227A			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	218					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)											GGAGGAGAAGAAAACCTTGAA	0.463																																																	0													121.0	136.0	131.0					20																	57564664		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.653A>C	20.37:g.57564664A>C	ENSP00000342300:p.Glu218Ala		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.E227A	ENST00000344018.3	37	c.680		20	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700652	0.68501	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.051210	0.85682	D	0.000000	T	0.60958	0.2309	M	0.77616	2.38	0.54753	D	0.999986	P;B;B	0.47484	0.896;0.011;0.089	B;B;B	0.43838	0.433;0.057;0.063	T	0.61628	-0.7024	9	0.20519	T	0.43	-22.0196	14.5927	0.68378	1.0:0.0:0.0:0.0	.	218;227;218	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	A	218	.	ENSP00000342300:E218A	E	+	2	0	TH1L	56998059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.194000	0.70268	0.533000	0.62120	GAA	NELFCD	-	pfam_TH1	ENSG00000101158		0.463	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	NELFCD	HGNC	protein_coding		-	0.00	89	0	A	NM_198976		57564664	+1	tier1	-	no_errors	ENST00000602795	ensembl	human	known	74_37	missense	19.61	82	20	SNP	1.000	C
NELL2	4753	genome.wustl.edu	37	12	45173759	45173759	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:45173759G>T	ENST00000429094.2	-	4	886	c.382C>A	c.(382-384)Cat>Aat	p.H128N	NELL2_ENST00000333837.4_Missense_Mutation_p.H151N|NELL2_ENST00000437801.2_Missense_Mutation_p.H178N|NELL2_ENST00000551601.1_Missense_Mutation_p.H127N|NELL2_ENST00000549027.1_Missense_Mutation_p.H127N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.H127N|NELL2_ENST00000452445.2_Missense_Mutation_p.H128N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	128	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GAGCGGTAATGCAGTCTGACT	0.473																																																	0													166.0	150.0	155.0					12																	45173759		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.382C>A	12.37:g.45173759G>T	ENSP00000390680:p.His128Asn		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H178N	ENST00000429094.2	37	c.532	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.073653	0.94000	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.097975	0.64402	D	0.000001	D	0.89072	0.6611	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.994;0.991;0.985;0.994	D;D;P;D;P;D	0.79108	0.992;0.978;0.882;0.988;0.88;0.962	D	0.90079	0.4169	10	0.87932	D	0	-17.5124	19.4004	0.94627	0.0:0.0:1.0:0.0	.	151;178;127;128;128;127	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	N	127;128;127;128;127;151;178;127;128;125	ENSP00000378866:H127N;ENSP00000390680:H128N;ENSP00000449332:H127N;ENSP00000394612:H128N;ENSP00000447927:H127N;ENSP00000327988:H151N;ENSP00000416341:H178N;ENSP00000447085:H128N;ENSP00000447384:H125N	ENSP00000327988:H151N	H	-	1	0	NELL2	43460026	1.000000	0.71417	0.769000	0.31535	0.994000	0.84299	9.808000	0.99193	2.577000	0.86979	0.655000	0.94253	CAT	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000184613		0.473	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	84	0	G	NM_006159		45173759	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	75.86	14	44	SNP	1.000	T
NELL2	4753	genome.wustl.edu	37	12	45173789	45173789	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:45173789T>A	ENST00000429094.2	-	4	856	c.352A>T	c.(352-354)Agt>Tgt	p.S118C	NELL2_ENST00000333837.4_Missense_Mutation_p.S141C|NELL2_ENST00000437801.2_Missense_Mutation_p.S168C|NELL2_ENST00000551601.1_Missense_Mutation_p.S117C|NELL2_ENST00000549027.1_Missense_Mutation_p.S117C|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.S117C|NELL2_ENST00000452445.2_Missense_Mutation_p.S118C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	118	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGCCACTACTTTCCAGTTCC	0.463																																																	0													128.0	120.0	123.0					12																	45173789		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.352A>T	12.37:g.45173789T>A	ENSP00000390680:p.Ser118Cys		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.S168C	ENST00000429094.2	37	c.502	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725427	0.89298	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.091023	0.85682	D	0.000000	D	0.88336	0.6409	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.974;0.997;0.973;0.994	D	0.90040	0.4141	10	0.87932	D	0	-22.7925	15.3486	0.74363	0.0:0.0:0.0:1.0	.	141;168;117;118;118;117	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	C	117;118;117;118;117;141;168;117;118;115	ENSP00000378866:S117C;ENSP00000390680:S118C;ENSP00000449332:S117C;ENSP00000394612:S118C;ENSP00000447927:S117C;ENSP00000327988:S141C;ENSP00000416341:S168C;ENSP00000447085:S118C;ENSP00000447384:S115C	ENSP00000327988:S141C	S	-	1	0	NELL2	43460056	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.992000	0.88273	2.021000	0.59480	0.533000	0.62120	AGT	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000184613		0.463	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	72	0	T	NM_006159		45173789	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	A
NFYB	4801	genome.wustl.edu	37	12	104519904	104519904	+	Silent	SNP	A	A	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:104519904A>C	ENST00000240055.3	-	4	446	c.219T>G	c.(217-219)ccT>ccG	p.P73P	NFYB_ENST00000551727.1_Silent_p.P73P|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	73	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCCCGTTTGAGGTATGGCAT	0.363																																																	0													193.0	175.0	181.0					12																	104519904		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.219T>G	12.37:g.104519904A>C			A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.P73	ENST00000240055.3	37	c.219	CCDS9098.1	12																																																																																			NFYB	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000120837		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0.00	62	0	A			104519904	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	silent	33.93	37	19	SNP	1.000	C
NR2F6	2063	genome.wustl.edu	37	19	17346329	17346329	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:17346329C>T	ENST00000291442.3	-	3	1638	c.919G>A	c.(919-921)Gcc>Acc	p.A307T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	307	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGCGCGATGGCCTTGAGGCAG	0.697																																																	0													8.0	8.0	8.0					19																	17346329		2113	4182	6295	SO:0001583	missense	0			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.919G>A	19.37:g.17346329C>T	ENSP00000291442:p.Ala307Thr		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A307T	ENST00000291442.3	37	c.919	CCDS12352.1	19	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915006	0.92178	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	D	0.97994	-4.65	4.69	4.69	0.59074	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.88105	2.93	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.99723	1.1010	10	0.87932	D	0	.	15.0696	0.72024	0.0:1.0:0.0:0.0	.	307	P10588	NR2F6_HUMAN	T	307;280	ENSP00000291442:A307T	ENSP00000291442:A307T	A	-	1	0	NR2F6	17207329	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.503000	0.81632	2.155000	0.67459	0.297000	0.19635	GCC	NR2F6	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000160113		0.697	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F6	HGNC	protein_coding	OTTHUMT00000463325.1		0.00	15	0	C			17346329	-1			no_errors	ENST00000291442	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	51149818	51149818	+	Silent	SNP	C	C	T	rs201027928		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:51149818C>T	ENST00000406316.2	-	4	2274	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NRXN1_ENST00000404971.1_Silent_p.A299A|NRXN1_ENST00000405581.1_Silent_p.A266A|NRXN1_ENST00000406859.3_Silent_p.A266A|NRXN1_ENST00000402717.3_Silent_p.A266A|NRXN1_ENST00000405472.3_Silent_p.A266A|NRXN1_ENST00000401669.2_Silent_p.A266A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	266					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A300A(1)|p.A299A(1)|p.A266A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGGTGCGCCAGACCTT	0.483																																																	3	Substitution - coding silent(3)	endometrium(3)						C	,	2,4106		0,2,2052	79.0	78.0	78.0		897,798	4.3	1.0	2		78	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	0,2,6228	TT,TC,CC		0.0,0.0487,0.0161	,	299/1548,266/1478	51149818	2,12458	2054	4176	6230	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.798G>A	2.37:g.51149818C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A266	ENST00000406316.2	37	c.798	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0.00	36	0	C			51149818	-1			no_errors	ENST00000402717	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228467602	228467602	+	Missense_Mutation	SNP	C	C	T	rs375061154		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:228467602C>T	ENST00000422127.1	+	28	7521	c.7477C>T	c.(7477-7479)Cgg>Tgg	p.R2493W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2922W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2493W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1340W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2493	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGACTTCCGGCCAGCCCC	0.622																																																	0									TRP/ARG,TRP/ARG	0,4240		0,0,2120	23.0	28.0	26.0		7477,7477	-0.6	1.0	1		26	1,8455		0,1,4227	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	0,1,6347	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	2493/7969,2493/6621	228467602	1,12695	2120	4228	6348	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7477C>T	1.37:g.228467602C>T	ENSP00000409493:p.Arg2493Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2493W	ENST00000422127.1	37	c.7477	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.578776	0.46006	0.0	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.68025	-0.3;-0.3;-0.3	5.01	-0.552	0.11818	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443096	0.23100	N	0.051936	T	0.77260	0.4104	M	0.69185	2.1	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.73708	0.965;0.802;0.981	T	0.78545	-0.2163	10	0.72032	D	0.01	.	14.179	0.65562	0.4323:0.5677:0.0:0.0	.	2493;2493;2493	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2493;2493;1340;192	ENSP00000284548:R2493W;ENSP00000409493:R2493W;ENSP00000352613:R1340W	ENSP00000284548:R2493W	R	+	1	2	OBSCN	226534225	0.951000	0.32395	0.983000	0.44433	0.884000	0.51177	0.863000	0.27913	-0.031000	0.13781	0.550000	0.68814	CGG	OBSCN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	53	0	C	NM_052843		228467602	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.226	T
OPLAH	26873	genome.wustl.edu	37	8	145113931	145113931	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145113931G>A	ENST00000426825.1	-	4	496	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	139					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCACGCGTTCGTCCACC	0.687																																																	0													19.0	21.0	20.0					8																	145113931		2095	4197	6292	SO:0001583	missense	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.415C>T	8.37:g.145113931G>A	ENSP00000475943:p.Arg139Cys		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.R139C	ENST00000426825.1	37	c.415		8	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391036	0.25118	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.83	3.89	0.44902	Hydantoinaseoxoprolinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	.	.	.	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.81346	-0.0974	7	0.87932	D	0	.	11.5244	0.50571	0.0:0.0:0.8202:0.1798	.	139	O14841	OPLA_HUMAN	C	139	.	ENSP00000412071:R139C	R	-	1	0	OPLAH	145185919	0.994000	0.37717	0.099000	0.21106	0.287000	0.27160	2.149000	0.42244	2.250000	0.74265	0.561000	0.74099	CGC	OPLAH	-	pfam_Hydant_A_N	ENSG00000178814		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		-	0.00	178	0	G	NM_017570		145113931	-1	tier1	-	no_errors	ENST00000426825	ensembl	human	known	74_37	missense	25.74	176	61	SNP	0.985	A
OR52N1	79473	genome.wustl.edu	37	11	5809305	5809305	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:5809305A>T	ENST00000317078.1	-	1	741	c.742T>A	c.(742-744)Tgt>Agt	p.C248S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACTATGGCACAGAAGTGGGCA	0.448																																																	0													159.0	147.0	151.0					11																	5809305		2201	4296	6497	SO:0001583	missense	0			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.742T>A	11.37:g.5809305A>T	ENSP00000322823:p.Cys248Ser		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.C248S	ENST00000317078.1	37	c.742	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862877	0.32884	.	.	ENSG00000181001	ENST00000317078	T	0.36520	1.25	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.315698	0.23414	N	0.048434	T	0.35008	0.0917	L	0.59912	1.85	0.26670	N	0.971747	B	0.14805	0.011	B	0.23150	0.044	T	0.29792	-1.0000	10	0.56958	D	0.05	.	9.7265	0.40335	0.8259:0.1741:0.0:0.0	.	248	Q8NH53	O52N1_HUMAN	S	248	ENSP00000322823:C248S	ENSP00000322823:C248S	C	-	1	0	OR52N1	5765881	0.000000	0.05858	1.000000	0.80357	0.830000	0.47004	0.169000	0.16641	2.092000	0.63282	0.496000	0.49642	TGT	OR52N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.448	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0.00	22	0	A	NM_001001913		5809305	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	T
ORC3	23595	genome.wustl.edu	37	6	88372778	88372778	+	Silent	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:88372778T>C	ENST00000392844.3	+	17	1797	c.1749T>C	c.(1747-1749)gcT>gcC	p.A583A	ORC3_ENST00000546266.1_Silent_p.A440A|ORC3_ENST00000257789.4_Silent_p.A584A	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	583					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						ACTTCAGTGCTGCCCATGCCC	0.468																																																	0													107.0	89.0	95.0					6																	88372778		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1749T>C	6.37:g.88372778T>C			A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	pfam_ORC3	p.A584	ENST00000392844.3	37	c.1752	CCDS43486.1	6																																																																																			ORC3	-	NULL	ENSG00000135336		0.468	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	-	0.00	94	0	T			88372778	+1	tier1	-	no_errors	ENST00000257789	ensembl	human	known	74_37	silent	41.25	47	33	SNP	0.820	C
PAK7	57144	genome.wustl.edu	37	20	9538353	9538353	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:9538353A>T	ENST00000378429.3	-	8	2191	c.1645T>A	c.(1645-1647)Tgc>Agc	p.C549S	PAK7_ENST00000378423.1_Missense_Mutation_p.C549S|PAK7_ENST00000353224.5_Missense_Mutation_p.C549S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTGACAGGCAGACAGTAGCT	0.438																																																	0													136.0	118.0	124.0					20																	9538353		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1645T>A	20.37:g.9538353A>T	ENSP00000367686:p.Cys549Ser		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.C549S	ENST00000378429.3	37	c.1645	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843843	0.91197	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.63913	-0.07;-0.07;-0.07	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	N	0.11106	0.095	0.80722	D	1	P;P	0.44241	0.829;0.829	P;P	0.50405	0.64;0.64	T	0.54715	-0.8252	9	.	.	.	.	15.9533	0.79861	1.0:0.0:0.0:0.0	.	549;549	B0AZM9;Q9P286	.;PAK7_HUMAN	S	549;549;549;497	ENSP00000367686:C549S;ENSP00000322957:C549S;ENSP00000367679:C549S	.	C	-	1	0	PAK7	9486353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.164000	0.68074	0.523000	0.50628	TGC	PAK7	-	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	ENSG00000101349		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1		0.00	50	0	A			9538353	-1			no_errors	ENST00000353224	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
PAX1	5075	genome.wustl.edu	37	20	21686334	21686334	+	5'UTR	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:21686334G>A	ENST00000398485.2	+	0	38				PAX1_ENST00000444366.2_5'Flank|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						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						CCGGTCAGACGAATTTCTCCC	0.657																																																	0													16.0	16.0	16.0					20																	21686334		692	1591	2283	SO:0001623	5_prime_UTR_variant	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.-17G>A	20.37:g.21686334G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	RNA	SNP	-	NULL	ENST00000398485.2	37	NULL	CCDS13146.2	20																																																																																			PAX1	-	-	ENSG00000125813		0.657	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	136	0	G			21686334	+1	tier1	-	no_errors	ENST00000460221	ensembl	human	known	74_37	rna	45.92	53	45	SNP	1.000	A
PCDHA13	56136	genome.wustl.edu	37	5	140262494	140262494	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:140262494C>T	ENST00000289272.2	+	1	641	c.641C>T	c.(640-642)gCc>gTc	p.A214V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A214V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTGACAGCCAGTGATGGA	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)												0													59.0	60.0	60.0					5																	140262494		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.641C>T	5.37:g.140262494C>T	ENSP00000289272:p.Ala214Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A214V	ENST00000289272.2	37	c.641	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665196	0.88251	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69504	0.3118	M	0.78456	2.415	0.50813	D	0.999897	P;P;P	0.50710	0.891;0.938;0.924	P;P;P	0.62184	0.87;0.899;0.851	T	0.71328	-0.4626	9	0.59425	D	0.04	.	19.1623	0.93539	0.0:1.0:0.0:0.0	.	214;214;214	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	214	ENSP00000386821:A214V;ENSP00000289272:A214V	ENSP00000289272:A214V	A	+	2	0	PCDHA13	140242678	1.000000	0.71417	0.810000	0.32431	0.995000	0.86356	5.987000	0.70571	2.621000	0.88768	0.561000	0.74099	GCC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	44	0	C	NM_018904		140262494	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
PCOLCE2	26577	genome.wustl.edu	37	3	142567065	142567065	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:142567065C>T	ENST00000295992.3	-	3	748	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.E148K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	148					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTACCTCTTTCGTTTGGTTCA	0.438																																																	0													67.0	68.0	68.0					3																	142567065		2203	4300	6503	SO:0001583	missense	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.442G>A	3.37:g.142567065C>T	ENSP00000295992:p.Glu148Lys		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.E148K	ENST00000295992.3	37	c.442	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287191	0.23478	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.22539	2.06;1.95	5.39	3.59	0.41128	.	0.152522	0.64402	D	0.000019	T	0.10035	0.0246	N	0.20845	0.615	0.35994	D	0.836895	B	0.32040	0.353	B	0.26202	0.067	T	0.15206	-1.0445	10	0.05833	T	0.94	-7.1613	10.2279	0.43236	0.0:0.674:0.2564:0.0696	.	148	Q9UKZ9	PCOC2_HUMAN	K	148	ENSP00000295992:E148K;ENSP00000419842:E148K	ENSP00000295992:E148K	E	-	1	0	PCOLCE2	144049755	1.000000	0.71417	0.765000	0.31456	0.842000	0.47809	3.583000	0.53928	0.835000	0.34877	0.644000	0.83932	GAA	PCOLCE2	-	NULL	ENSG00000163710		0.438	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	-	0.00	51	0	C	NM_013363		142567065	-1	tier1	-	no_errors	ENST00000295992	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.991	T
PDZD2	23037	genome.wustl.edu	37	5	32087802	32087802	+	Frame_Shift_Del	DEL	A	A	-	rs157497|rs113511990	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:32087802delA	ENST00000438447.1	+	20	4636	c.4248delA	c.(4246-4248)ccafs	p.P1416fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.P1416fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1416					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGCTGCCCAGGGGGGAGTA	0.592																																																	0													41.0	41.0	41.0					5																	32087802		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4248delA	5.37:g.32087802delA	ENSP00000402033:p.Pro1416fs		Q9BXD4	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1419fs	ENST00000438447.1	37	c.4248	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0.00	57	0	A			32087802	+1	tier1		no_errors	ENST00000282493	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.000	-
PES1	23481	genome.wustl.edu	37	22	30977532	30977532	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:30977532G>T	ENST00000405677.1	-	9	1256	c.313C>A	c.(313-315)Ctc>Atc	p.L105I	PES1_ENST00000402284.3_Missense_Mutation_p.L227I|PES1_ENST00000335214.6_Missense_Mutation_p.L244I|PES1_ENST00000354694.7_Missense_Mutation_p.L244I|PES1_ENST00000402281.1_Missense_Mutation_p.L105I	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.L244F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGATAGTGGAGGTTGAGCAAC	0.622																																																	1	Substitution - Missense(1)	lung(1)											72.0	55.0	61.0					22																	30977532		2203	4300	6503	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.313C>A	22.37:g.30977532G>T	ENSP00000385654:p.Leu105Ile			Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L244I	ENST00000405677.1	37	c.730		22	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303868	0.60305	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.60222	0.2252	M	0.74546	2.27	0.80722	D	1	B;P;B;B	0.44344	0.426;0.833;0.176;0.426	B;P;B;B	0.49085	0.21;0.6;0.067;0.21	T	0.65829	-0.6073	10	0.72032	D	0.01	-22.1619	16.5057	0.84271	0.0:0.0:1.0:0.0	.	244;227;244;244	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	I	244;105;105;227;244	ENSP00000346725:L244I;ENSP00000384366:L105I;ENSP00000385654:L105I;ENSP00000384252:L227I;ENSP00000334612:L244I	ENSP00000334612:L244I	L	-	1	0	PES1	29307532	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	6.003000	0.70701	2.431000	0.82371	0.655000	0.94253	CTC	PES1	-	pfam_Pescadillo	ENSG00000100029		0.622	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2		0.00	58	0	G	NM_014303		30977532	-1			no_errors	ENST00000354694	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35092332	35092332	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:35092332C>T	ENST00000378617.3	-	7	1946	c.1552G>A	c.(1552-1554)Gca>Aca	p.A518T	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.A518T|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	518					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGCTCACTGCAGCCACAGCC	0.602																																																	0													48.0	49.0	49.0					9																	35092332		2203	4300	6503	SO:0001583	missense	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1552G>A	9.37:g.35092332C>T	ENSP00000367880:p.Ala518Thr		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A518T	ENST00000378617.3	37	c.1552	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446980	0.43429	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56941	0.43;0.43	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.50083	-0.8869	10	0.34782	T	0.22	-11.6081	12.6217	0.56607	0.0:0.925:0.0:0.075	.	518	Q8TEQ8	PIGO_HUMAN	T	518	ENSP00000367880:A518T;ENSP00000339382:A518T	ENSP00000339382:A518T	A	-	1	0	PIGO	35082332	0.938000	0.31826	0.999000	0.59377	0.585000	0.36419	1.349000	0.33998	2.813000	0.96785	0.655000	0.94253	GCA	PIGO	-	NULL	ENSG00000165282		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0.00	36	0	C	NM_032634		35092332	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.996	T
PIH1D3	139212	genome.wustl.edu	37	X	106466059	106466059	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:106466059C>T	ENST00000372453.3	+	5	479	c.417C>T	c.(415-417)tgC>tgT	p.C139C	PIH1D3_ENST00000535523.1_Silent_p.C139C|PIH1D3_ENST00000336387.4_Silent_p.C139C	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	139								p.C139C(1)									CAGGTTGTTGCAGTGAACTAG	0.358																																																	1	Substitution - coding silent(1)	lung(1)											120.0	113.0	116.0					X																	106466059		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.417C>T	X.37:g.106466059C>T			D3DUX5|Q86WE1	Silent	SNP	pfam_PIH	p.C139	ENST00000372453.3	37	c.417	CCDS14528.1	X																																																																																			PIH1D3	-	pfam_PIH	ENSG00000080572		0.358	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	-	0.00	44	0	C	NM_173494		106466059	+1	tier1	-	no_errors	ENST00000336387	ensembl	human	known	74_37	silent	80.00	10	40	SNP	0.956	T
PLEC	5339	genome.wustl.edu	37	8	145017974	145017974	+	Intron	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145017974C>T	ENST00000322810.4	-	2	693				PLEC_ENST00000398774.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354589.3_Missense_Mutation_p.G29R|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000357649.2_5'Flank|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGACGTCCCCTGCGCCAG	0.711																																																	0													20.0	27.0	25.0					8																	145017974		2029	4179	6208	SO:0001627	intron_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.524-5114G>A	8.37:g.145017974C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G29R	ENST00000322810.4	37	c.85	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740960	0.30865	.	.	ENSG00000178209	ENST00000354589	T	0.77358	-1.09	3.85	2.87	0.33458	.	.	.	.	.	T	0.66992	0.2846	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.67473	-0.5662	8	0.62326	D	0.03	.	7.6474	0.28329	0.2746:0.7254:0.0:0.0	.	29	Q15149-5	.	R	29	ENSP00000346602:G29R	ENSP00000346602:G29R	G	-	1	0	PLEC	145089962	0.000000	0.05858	1.000000	0.80357	0.666000	0.39218	-0.020000	0.12525	1.978000	0.57642	0.305000	0.20034	GGA	PLEC	-	NULL	ENSG00000178209		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0.00	23	0	C	NM_000445		145017974	-1			no_errors	ENST00000354589	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
PLSCR1	5359	genome.wustl.edu	37	3	146234933	146234933	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:146234933A>G	ENST00000342435.4	-	8	1170	c.760T>C	c.(760-762)Tgt>Cgt	p.C254R	PLSCR1_ENST00000487389.1_Missense_Mutation_p.C247R|PLSCR1_ENST00000448787.2_Missense_Mutation_p.C173R|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000484560.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	254					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CCAACCACACACTGTTCATCA	0.323																																																	0													70.0	70.0	70.0					3																	146234933		2203	4300	6503	SO:0001583	missense	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.760T>C	3.37:g.146234933A>G	ENSP00000345494:p.Cys254Arg		B2R8H8|B4DTE8	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.C254R	ENST00000342435.4	37	c.760	CCDS3135.1	3	.	.	.	.	.	.	.	.	.	.	.	4.759	0.141174	0.09083	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.85	-5.38	0.02673	.	2.084570	0.03576	U	0.229397	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.22414	0.069;0.009	B;B	0.17722	0.019;0.004	T	0.28964	-1.0027	10	0.11485	T	0.65	.	5.8457	0.18665	0.5118:0.1842:0.0:0.304	.	173;254	B4DTE8;O15162	.;PLS1_HUMAN	R	254;247;173;230	ENSP00000345494:C254R;ENSP00000417792:C247R;ENSP00000411675:C173R;ENSP00000418103:C230R	ENSP00000345494:C254R	C	-	1	0	PLSCR1	147717623	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.457000	0.06745	-0.769000	0.04620	-0.472000	0.04984	TGT	PLSCR1	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000188313		0.323	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2	-	0.00	52	0	A	NM_021105		146234933	-1	tier1	-	no_errors	ENST00000342435	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	G
PRDM7	11105	genome.wustl.edu	37	16	90142261	90142261	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:90142261G>A	ENST00000449207.2	-	1	77	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	PRDM7_ENST00000569206.1_Intron|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	20					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ATGGGCTTCCGCTCTGTTCTC	0.587																																																	0													67.0	74.0	72.0					16																	90142261		1937	4135	6072	SO:0001583	missense	0			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.58C>T	16.37:g.90142261G>A	ENSP00000396732:p.Arg20Trp		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R20W	ENST00000449207.2	37	c.58	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	.	3.555	-0.090941	0.07053	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	T	0.11712	2.75	1.39	-2.78	0.05859	Krueppel-associated box (1);	.	.	.	.	T	0.02571	0.0078	N	0.01705	-0.755	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.40515	-0.9559	8	.	.	.	.	0.0715	0.00023	0.2985:0.2429:0.2163:0.2423	.	20	Q9NQW5	PRDM7_HUMAN	W	20	ENSP00000396732:R20W	.	R	-	1	2	PRDM7	88669762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.335000	0.02662	-1.281000	0.02399	-0.350000	0.07774	CGG	PRDM7	-	superfamily_Krueppel-associated_box	ENSG00000126856		0.587	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1		0.00	65	0	G			90142261	-1			no_errors	ENST00000449207	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	A
PRTG	283659	genome.wustl.edu	37	15	56032808	56032808	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:56032808C>T	ENST00000561292.1	-	2	327	c.169G>A	c.(169-171)Gtt>Att	p.V57I	PRTG_ENST00000389286.4_Missense_Mutation_p.V57I					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAATCTAAAACGACTGGGTCC	0.408																																																	0													106.0	101.0	103.0					15																	56032808		1837	4086	5923	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.169G>A	15.37:g.56032808C>T	ENSP00000453335:p.Val57Ile			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V57I	ENST00000561292.1	37	c.169		15	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310839	0.23821	.	.	ENSG00000166450	ENST00000389286	T	0.66995	-0.24	5.82	-7.42	0.01388	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.486738	0.17967	N	0.155972	T	0.33352	0.0860	N	0.14661	0.345	0.26128	N	0.980459	B	0.22541	0.071	B	0.17098	0.017	T	0.20207	-1.0282	10	0.21014	T	0.42	-0.107	2.3199	0.04207	0.1626:0.3385:0.0908:0.4081	.	57	Q2VWP7	PRTG_HUMAN	I	57	ENSP00000373937:V57I	ENSP00000373937:V57I	V	-	1	0	PRTG	53820100	0.000000	0.05858	0.017000	0.16124	0.996000	0.88848	-1.381000	0.02549	-2.107000	0.00840	-0.140000	0.14226	GTT	PRTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000166450		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419360.1	-	0.00	72	0	C	NM_173814		56032808	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	7.87	82	7	SNP	0.317	T
PTBP2	58155	genome.wustl.edu	37	1	97279079	97279080	+	3'UTR	INS	-	-	T	rs138277715	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:97279079_97279080insT	ENST00000426398.2	+	0	1757_1758				PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_3'UTR|PTBP2_ENST00000370198.1_3'UTR|PTBP2_ENST00000394184.3_3'UTR|PTBP2_ENST00000370197.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TTTGGGGTTTCTTTTTTTTTTC	0.337													|||unknown(HR)	359	0.0716853	0.2322	0.0331	5008	,	,		14987	0.005		0.0099	False		,,,				2504	0.0143																0																																										SO:0001624	3_prime_UTR_variant	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.*119->T	1.37:g.97279089_97279089dupT			Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	RNA	INS	-	NULL	ENST00000426398.2	37	NULL	CCDS754.1	1																																																																																			PTBP2	-	-	ENSG00000117569		0.337	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1		0.00	46	0	-			97279080	+1	tier1		no_errors	ENST00000482253	ensembl	human	known	74_37	rna	10.34	26	3	INS	0.000:0.002	T
PTPN21	11099	genome.wustl.edu	37	14	89016715	89016715	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:89016715G>A	ENST00000556564.1	-	2	331	c.47C>T	c.(46-48)aCg>aTg	p.T16M	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.T16M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	16					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGACACCGTGTAGCGCCG	0.532																																																	0													110.0	106.0	107.0					14																	89016715		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.47C>T	14.37:g.89016715G>A	ENSP00000452414:p.Thr16Met			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.T16M	ENST00000556564.1	37	c.47	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175264	0.78564	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;D	0.81499	-0.72;-0.72;-1.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	N	0.08118	0	0.46901	D	0.999247	D;D	0.89917	0.982;1.0	P;D	0.85130	0.707;0.997	D	0.85608	0.1256	10	0.62326	D	0.03	.	19.6662	0.95894	0.0:0.0:1.0:0.0	.	16;16	G3V3S6;Q16825	.;PTN21_HUMAN	M	16	ENSP00000330276:T16M;ENSP00000452414:T16M;ENSP00000451401:T16M	ENSP00000330276:T16M	T	-	2	0	PTPN21	88086468	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	6.259000	0.72494	2.649000	0.89929	0.561000	0.74099	ACG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.532	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	60	0	G			89016715	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A
PVRL3	25945	genome.wustl.edu	37	3	110837677	110837677	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:110837677C>T	ENST00000485303.1	+	3	952	c.677C>T	c.(676-678)aCg>aTg	p.T226M	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226M|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GAAACGGCAACGATTATCAGC	0.438																																																	0													93.0	84.0	87.0					3																	110837677		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.677C>T	3.37:g.110837677C>T	ENSP00000418070:p.Thr226Met		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T226M	ENST00000485303.1	37	c.677	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463696	0.43736	.	.	ENSG00000177707	ENST00000491525;ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.80824	-1.42;-1.42;-1.42	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098915	0.64402	D	0.000001	D	0.90765	0.7101	M	0.85859	2.78	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91862	0.5500	10	0.87932	D	0	.	17.1218	0.86704	0.0:1.0:0.0:0.0	.	203;226	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	M	14;226;226;203	ENSP00000418070:T226M;ENSP00000321514:T226M;ENSP00000420579:T203M	ENSP00000321514:T226M	T	+	2	0	PVRL3	112320367	0.999000	0.42202	0.998000	0.56505	0.659000	0.38960	4.090000	0.57693	2.648000	0.89879	0.650000	0.86243	ACG	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000177707		0.438	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	-	0.00	41	0	C	NM_015480		110837677	+1	tier1	-	no_errors	ENST00000485303	ensembl	human	known	74_37	missense	38.89	44	28	SNP	0.998	T
QSER1	79832	genome.wustl.edu	37	11	32953772	32953772	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:32953772G>T	ENST00000399302.2	+	4	916	c.581G>T	c.(580-582)cGg>cTg	p.R194L	QSER1_ENST00000527788.1_Missense_Mutation_p.R194L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	194	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CACCATCAGCGGCCTTCAGGT	0.408																																																	0													83.0	77.0	79.0					11																	32953772		1882	4101	5983	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.581G>T	11.37:g.32953772G>T	ENSP00000382241:p.Arg194Leu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.R194L	ENST00000399302.2	37	c.581	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800536	0.70567	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.60424	0.3;0.19	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000021	T	0.76083	0.3938	M	0.70275	2.135	0.37644	D	0.92214	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78735	-0.2088	10	0.48119	T	0.1	.	19.0613	0.93095	0.0:0.0:1.0:0.0	.	194;194	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	L	194	ENSP00000382241:R194L;ENSP00000432766:R194L	ENSP00000078652:R194L	R	+	2	0	QSER1	32910348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.579000	0.87056	0.655000	0.94253	CGG	QSER1	-	NULL	ENSG00000060749		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1		0.00	26	0	G	NM_024774		32953772	+1			no_errors	ENST00000399302	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
RAB11FIP1	80223	genome.wustl.edu	37	8	37732217	37732217	+	Missense_Mutation	SNP	C	C	A	rs546332369		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:37732217C>A	ENST00000330843.4	-	3	1450	c.1438G>T	c.(1438-1440)Gct>Tct	p.A480S	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A332S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A480S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A332S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	480					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGTCTTCAGCAGGCCCCGAT	0.562																																																	0													134.0	136.0	135.0					8																	37732217		2203	4300	6503	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1438G>T	8.37:g.37732217C>A	ENSP00000331342:p.Ala480Ser		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A480S	ENST00000330843.4	37	c.1438	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247379	0.22880	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30981	2.27;2.74;1.53;1.51	3.55	3.55	0.40652	.	1.488090	0.04681	N	0.412411	T	0.22205	0.0535	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27732	0.067;0.187;0.065;0.118	B;B;B;B	0.22601	0.012;0.039;0.04;0.025	T	0.26538	-1.0100	10	0.09084	T	0.74	.	6.0082	0.19559	0.0:0.6064:0.2785:0.1151	.	332;332;480;480	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	480;480;332;332	ENSP00000287263:A480S;ENSP00000331342:A480S;ENSP00000430009:A332S;ENSP00000430680:A332S	ENSP00000287263:A480S	A	-	1	0	RAB11FIP1	37851375	0.002000	0.14202	0.230000	0.23976	0.008000	0.06430	0.198000	0.17217	1.533000	0.49186	0.467000	0.42956	GCT	RAB11FIP1	-	NULL	ENSG00000156675		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0.00	54	0	C	NM_025151		37732217	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.016	A
RAB11FIP2	22841	genome.wustl.edu	37	10	119768515	119768515	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:119768515G>T	ENST00000355624.3	-	5	1972	c.1533C>A	c.(1531-1533)aaC>aaA	p.N511K	RAB11FIP2_ENST00000476207.1_Intron|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.N531K	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	511	Necessary for the interaction with AP2A1, RAB11A, subcellular location, endocytosis activity and homooligomerization.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTATTAACTGTTAGAGAATT	0.393																																																	0													110.0	108.0	109.0					10																	119768515		2203	4299	6502	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1533C>A	10.37:g.119768515G>T	ENSP00000347839:p.Asn511Lys		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.N531K	ENST00000355624.3	37	c.1593	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	G	3.113	-0.182228	0.06340	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.61510	0.1;0.18	5.16	-10.3	0.00346	.	0.537260	0.19596	N	0.110513	T	0.17450	0.0419	N	0.02011	-0.69	0.19575	N	0.999968	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28202	-1.0051	10	0.13108	T	0.6	-1.9561	7.1878	0.25809	0.0975:0.2067:0.5871:0.1087	.	531;511	Q3I768;Q7L804	.;RFIP2_HUMAN	K	511;531	ENSP00000347839:N511K;ENSP00000358200:N531K	ENSP00000347839:N511K	N	-	3	2	RAB11FIP2	119758505	0.325000	0.24660	0.001000	0.08648	0.686000	0.39977	-0.372000	0.07504	-2.018000	0.00943	-0.469000	0.05056	AAC	RAB11FIP2	-	NULL	ENSG00000107560		0.393	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	-	0.00	44	0	G	NM_014904		119768515	-1	tier1	-	no_errors	ENST00000369199	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.283	T
RAB3IP	117177	genome.wustl.edu	37	12	70150282	70150282	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:70150282G>C	ENST00000247833.7	+	3	725	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	RAB3IP_ENST00000550536.1_Missense_Mutation_p.E133Q|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E133Q|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E117Q|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E117Q					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCAGAGAGAGAGTTTTTACA	0.433																																																	0													210.0	203.0	206.0					12																	70150282		2203	4300	6503	SO:0001583	missense	0				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.349G>C	12.37:g.70150282G>C	ENSP00000247833:p.Glu117Gln			Missense_Mutation	SNP	pfam_Sec2p	p.E133Q	ENST00000247833.7	37	c.397	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893812|4.893812	0.91889|0.91889	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025|ENST00000550647	T;T|.	0.52754|.	0.66;0.65|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.254037|.	0.45361|.	D|.	0.000368|.	T|T	0.62527|0.62527	0.2435|0.2435	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.69078|.	0.914;0.997;0.914;0.974|.	P;D;P;P|.	0.75484|.	0.656;0.986;0.656;0.796|.	T|T	0.62831|0.62831	-0.6771|-0.6771	10|6	0.26408|0.59425	T|D	0.33|0.04	-3.2759|-3.2759	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	133;133;117;117|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	Q|T	117;117;117;117;133;133|6	ENSP00000247833:E117Q;ENSP00000447300:E133Q|.	ENSP00000247833:E117Q|ENSP00000448218:R6T	E|R	+|+	1|2	0|0	RAB3IP|RAB3IP	68436549|68436549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.441000|6.441000	0.73439|0.73439	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RAB3IP	-	NULL	ENSG00000127328		0.433	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	HGNC	protein_coding	OTTHUMT00000280671.2	-	0.00	69	0	G	NM_022456		70150282	+1	tier1	-	no_errors	ENST00000550536	ensembl	human	known	74_37	missense	45.95	40	34	SNP	1.000	C
RAI14	26064	genome.wustl.edu	37	5	34803840	34803840	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:34803840G>A	ENST00000265109.3	+	5	567	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	RAI14_ENST00000515799.1_Missense_Mutation_p.A97T|RAI14_ENST00000428746.2_Missense_Mutation_p.A94T|RAI14_ENST00000397449.1_Missense_Mutation_p.A87T|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.A94T|RAI14_ENST00000506376.1_Missense_Mutation_p.A86T|RAI14_ENST00000512629.1_Missense_Mutation_p.A94T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	94						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACATCTCGCAGCCAAGAACAG	0.338																																																	0													54.0	51.0	52.0					5																	34803840		2203	4300	6503	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.280G>A	5.37:g.34803840G>A	ENSP00000265109:p.Ala94Thr		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A97T	ENST00000265109.3	37	c.289	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527406	0.85706	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.79009	0.4374	M	0.73753	2.245	0.43564	D	0.995888	P;D;D;D	0.56746	0.925;0.977;0.977;0.977	P;P;P;P	0.57425	0.54;0.82;0.786;0.82	T	0.76647	-0.2882	9	0.36615	T	0.2	-14.9033	18.5214	0.90954	0.0:0.0:1.0:0.0	.	86;94;97;94	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	94;94;94;94;94;94;94;94;94;94;97;94;94;86;87	ENSP00000265109:A94T;ENSP00000424879:A94T;ENSP00000422112:A94T;ENSP00000422377:A94T;ENSP00000388725:A94T;ENSP00000421424:A94T;ENSP00000422942:A94T;ENSP00000422515:A94T;ENSP00000422114:A94T;ENSP00000424502:A94T;ENSP00000427123:A97T;ENSP00000426770:A94T;ENSP00000425115:A94T;ENSP00000423854:A86T;ENSP00000380591:A87T	ENSP00000265109:A94T	A	+	1	0	RAI14	34839597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.138000	0.77305	2.814000	0.96858	0.655000	0.94253	GCC	RAI14	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000039560		0.338	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0.00	66	0	G	NM_015577		34803840	+1	tier1	-	no_errors	ENST00000515799	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A
RARS	5917	genome.wustl.edu	37	5	167919693	167919693	+	Silent	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:167919693T>A	ENST00000231572.3	+	3	264	c.210T>A	c.(208-210)acT>acA	p.T70T	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	70	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACAAACCAACTAAAAATATGA	0.373																																																	0													94.0	96.0	95.0					5																	167919693		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.210T>A	5.37:g.167919693T>A			B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.T70	ENST00000231572.3	37	c.210	CCDS4367.1	5																																																																																			RARS	-	superfamily_Arg-tRNA-synth_N	ENSG00000113643		0.373	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0.00	69	0	T	NM_002887		167919693	+1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	silent	29.31	41	17	SNP	0.005	A
RBL2	5934	genome.wustl.edu	37	16	53504680	53504680	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:53504680G>A	ENST00000262133.6	+	17	2686	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	850	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCAGCTGTCCGCCTTCGGGAT	0.373																																																	0													127.0	135.0	132.0					16																	53504680		2198	4300	6498	SO:0001583	missense	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2549G>A	16.37:g.53504680G>A	ENSP00000262133:p.Arg850His		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R850H	ENST00000262133.6	37	c.2549	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841201	0.71488	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.95412	-3.7	5.98	5.98	0.97165	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.98514	1.0620	10	0.87932	D	0	-9.8332	20.0685	0.97708	0.0:0.0:1.0:0.0	.	560;850	E9PG04;Q08999	.;RBL2_HUMAN	H	850;560	ENSP00000262133:R850H	ENSP00000262133:R850H	R	+	2	0	RBL2	52062181	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	9.582000	0.98214	2.835000	0.97688	0.650000	0.86243	CGC	RBL2	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000103479		0.373	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0.00	67	0	G	NM_005611		53504680	+1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104898074	104898074	+	Missense_Mutation	SNP	G	G	T	rs199608093		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:104898074G>T	ENST00000436393.2	+	2	822	c.581G>T	c.(580-582)cGa>cTa	p.R194L	RIMS2_ENST00000406091.3_Missense_Mutation_p.R416L|RIMS2_ENST00000507740.1_Missense_Mutation_p.R224L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R224L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	447					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R224L(2)|p.R452L(1)|p.R416L(1)|p.R194L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAAGAACTCGAGAGGCTCAG	0.463										HNSCC(12;0.0054)																																							5	Substitution - Missense(5)	lung(5)											73.0	70.0	71.0					8																	104898074		1919	4133	6052	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.581G>T	8.37:g.104898074G>T	ENSP00000390665:p.Arg194Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	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.R416L	ENST00000436393.2	37	c.1247		8	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536118	0.64972	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.65	5.65	0.86999	.	.	.	.	.	T	0.47600	0.1454	L	0.36672	1.1	0.80722	D	1	P;B;P;D;P	0.63046	0.673;0.427;0.882;0.992;0.932	B;B;P;P;P	0.57720	0.153;0.317;0.62;0.826;0.553	T	0.34079	-0.9843	9	0.48119	T	0.1	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	447;194;224;224;416	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	416;447;416;447;224;224;224;224;194	ENSP00000427018:R416L;ENSP00000384892:R416L;ENSP00000425205:R224L;ENSP00000262231:R224L;ENSP00000423559:R224L;ENSP00000386228:R224L;ENSP00000390665:R194L	ENSP00000262231:R224L	R	+	2	0	RIMS2	104967250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.918000	0.56432	2.653000	0.90120	0.563000	0.77884	CGA	RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	24	0	G	NM_001100117		104898074	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
RNASEK	440400	genome.wustl.edu	37	17	6915916	6915916	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:6915916C>T	ENST00000548577.1	+	1	181	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	RNASEK-C17orf49_ENST00000547302.2_5'Flank|RNASEK_ENST00000402093.1_5'UTR|AC027763.2_ENST00000399540.2_5'Flank|C17orf49_ENST00000439424.2_5'Flank|C17orf49_ENST00000546495.1_5'Flank|RNASEK_ENST00000552321.1_5'Flank|C17orf49_ENST00000546760.1_5'Flank|AC027763.2_ENST00000575727.1_5'Flank|C17orf49_ENST00000552402.1_5'Flank|AC027763.2_ENST00000399541.2_5'Flank|C17orf49_ENST00000552775.1_5'Flank|AC027763.2_ENST00000573939.1_5'Flank|AC027763.2_ENST00000574377.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA	NM_001004333.4	NP_001004333.2	Q6P5S7	RNK_HUMAN	ribonuclease, RNase K	11					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA transcription (GO:0009303)	integral component of membrane (GO:0016021)	endoribonuclease activity (GO:0004521)			lung(1)	1						GCCACGCCCCCTCTGCCCCCC	0.687																																																	0																																										SO:0001583	missense	0			AK289930	CCDS45594.1, CCDS45594.2	17p13.1	2010-10-28				ENSG00000219200			33911	protein-coding gene	gene with protein product						17881363	Standard	NM_001004333		Approved	MGC71993		Q6P5S7		ENST00000548577.1:c.31C>T	17.37:g.6915916C>T	ENSP00000449500:p.Leu11Phe		G3V1Z9|Q502Z2	Missense_Mutation	SNP	NULL	p.L11F	ENST00000548577.1	37	c.31	CCDS45594.2	17	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691220	0.48097	.	.	ENSG00000219200	ENST00000548577	.	.	.	4.76	2.77	0.32553	.	.	.	.	.	T	0.34279	0.0892	N	0.08118	0	0.51767	D	0.999937	.	.	.	.	.	.	T	0.15093	-1.0449	6	0.49607	T	0.09	.	7.2575	0.26185	0.0:0.7993:0.0:0.2007	.	.	.	.	F	11	.	ENSP00000447072:L11F	L	+	1	0	RNASEK	6856640	0.000000	0.05858	0.477000	0.27303	0.050000	0.14768	-0.179000	0.09768	0.725000	0.32318	0.563000	0.77884	CTC	RNASEK	-	NULL	ENSG00000219200		0.687	RNASEK-001	KNOWN	basic|CCDS	protein_coding	RNASEK	HGNC	protein_coding	OTTHUMT00000407651.1	-	0.00	102	0	C	NM_001004333		6915916	+1	tier1	-	no_errors	ENST00000548577	ensembl	human	known	74_37	missense	51.85	39	42	SNP	0.635	T
RNF121	55298	genome.wustl.edu	37	11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.G134D|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493																																																	0													262.0	216.0	231.0					11																	71705781		2200	4293	6493	SO:0001583	missense	0			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.644G>A	11.37:g.71705781G>A	ENSP00000354571:p.Gly215Asp		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G215D	ENST00000361756.3	37	c.644	CCDS8203.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265151	0.80358	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.71920	2.185	0.80722	D	1	P;B	0.34780	0.468;0.153	B;B	0.37780	0.258;0.062	T	0.01574	-1.1321	10	0.56958	D	0.05	-6.625	19.3531	0.94398	0.0:0.0:1.0:0.0	.	183;215	G3V148;Q9H920	.;RN121_HUMAN	D	215;55;134;183	ENSP00000354571:G215D;ENSP00000433574:G55D;ENSP00000443799:G134D;ENSP00000431286:G183D	ENSP00000354571:G215D	G	+	2	0	RNF121	71383429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.093000	0.94163	2.941000	0.99782	0.655000	0.94253	GGC	RNF121	-	NULL	ENSG00000137522		0.493	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF121	HGNC	protein_coding	OTTHUMT00000347132.1	-	0.00	57	0	G	NM_018320		71705781	+1	tier1	-	no_errors	ENST00000361756	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
RNF17	56163	genome.wustl.edu	37	13	25453361	25453361	+	Missense_Mutation	SNP	G	G	A	rs371675646		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:25453361G>A	ENST00000255324.5	+	35	4862	c.4810G>A	c.(4810-4812)Gat>Aat	p.D1604N	RNF17_ENST00000381921.1_Missense_Mutation_p.D1562N|RNF17_ENST00000339524.3_Missense_Mutation_p.D614N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1604					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTATATGACGATGAACAGCA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		21711	0.0		0.0	False		,,,				2504	0.001																0								G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	109.0	94.0	99.0		4798,4810	4.9	1.0	13		99	0,8600		0,0,4300	no	missense,missense	RNF17	NM_001184993.1,NM_031277.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1600/1620,1604/1624	25453361	1,13005	2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4810G>A	13.37:g.25453361G>A	ENSP00000255324:p.Asp1604Asn		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.D1604N	ENST00000255324.5	37	c.4810	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060063	0.19987	2.27E-4	0.0	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.22743	3.52;3.51;1.94	5.7	4.86	0.63082	.	0.000000	0.64402	D	0.000017	T	0.14657	0.0354	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.19073	0.033;0.001;0.009;0.011	B;B;B;B	0.12837	0.008;0.001;0.007;0.003	T	0.05649	-1.0872	10	0.31617	T	0.26	-12.194	12.14	0.53993	0.0806:0.0:0.9194:0.0	.	1600;614;1598;1604	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	N	1604;1562;614	ENSP00000255324:D1604N;ENSP00000371346:D1562N;ENSP00000344776:D614N	ENSP00000255324:D1604N	D	+	1	0	RNF17	24351361	1.000000	0.71417	0.973000	0.42090	0.015000	0.08874	4.537000	0.60643	1.414000	0.47017	-0.137000	0.14449	GAT	RNF17	-	NULL	ENSG00000132972		0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0.00	67	0	G	NM_031994		25453361	+1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	31.03	19	9	SNP	1.000	A
RNF219	79596	genome.wustl.edu	37	13	79191193	79191193	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:79191193G>T	ENST00000282003.6	-	6	761	c.703C>A	c.(703-705)Cgc>Agc	p.R235S	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	235							zinc ion binding (GO:0008270)	p.R235C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCTTGAGGCGATTGGTTTCA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											107.0	102.0	103.0					13																	79191193		2203	4300	6503	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.703C>A	13.37:g.79191193G>T	ENSP00000282003:p.Arg235Ser		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.R235S	ENST00000282003.6	37	c.703	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620264	0.66787	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	6.17	0.99709	.	0.121708	0.56097	D	0.000037	T	0.56093	0.1962	M	0.61703	1.905	0.43798	D	0.996345	P	0.36282	0.546	B	0.33846	0.171	T	0.58891	-0.7556	9	0.56958	D	0.05	-10.8595	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	235	Q5W0B1	RN219_HUMAN	S	235	.	ENSP00000282003:R235S	R	-	1	0	RNF219	78089194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.941000	0.99782	0.655000	0.94253	CGC	RNF219	-	NULL	ENSG00000152193		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1		0.00	92	0	G	NM_024546		79191193	-1			no_errors	ENST00000282003	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T
RNF31	55072	genome.wustl.edu	37	14	24617471	24617471	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:24617471G>A	ENST00000324103.6	+	3	664	c.344G>A	c.(343-345)gGc>gAc	p.G115D	RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	115	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TGGCAGGGGGGCCGAGATGTG	0.572																																																	0													44.0	49.0	47.0					14																	24617471		2098	4234	6332	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.344G>A	14.37:g.24617471G>A	ENSP00000315112:p.Gly115Asp		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.G115D	ENST00000324103.6	37	c.344	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010242	0.93346	.	.	ENSG00000092098	ENST00000324103	T	0.52057	0.68	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68100	-0.5498	10	0.87932	D	0	.	17.9131	0.88940	0.0:0.0:1.0:0.0	.	115	Q96EP0	RNF31_HUMAN	D	115	ENSP00000315112:G115D	ENSP00000315112:G115D	G	+	2	0	RNF31	23687311	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.315000	0.89983	2.779000	0.95612	0.655000	0.94253	GGC	RNF31	-	pfam_PUB_domain	ENSG00000092098		0.572	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3		0.00	33	0	G	NM_017999		24617471	+1			no_errors	ENST00000324103	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77147383	77147383	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:77147383C>T	ENST00000461745.1	+	2	1180	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R110C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R94C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	94	Ig-like C2-type 1.				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)		ATTCTTCTTGCGCATCGTGCA	0.537																																																	0													86.0	92.0	90.0					3																	77147383		2026	4187	6213	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.280C>T	3.37:g.77147383C>T	ENSP00000417164:p.Arg94Cys		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.R94C	ENST00000461745.1	37	c.280	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221367	0.79464	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.69435	-0.4;-0.4;-0.4	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.38217	U	0.001778	D	0.84951	0.5586	M	0.86651	2.83	0.35920	D	0.831742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.87401	0.2369	9	0.87932	D	0	.	19.1855	0.93642	0.0:1.0:0.0:0.0	.	110;94;94	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	110;110;110;94;94	ENSP00000417335:R110C;ENSP00000417164:R94C;ENSP00000327536:R94C	ENSP00000327536:R94C	R	+	1	0	ROBO2	77230073	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	5.951000	0.70273	2.525000	0.85131	0.655000	0.94253	CGC	ROBO2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000185008		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	56	0	C	XM_031246		77147383	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T
RRN3P1	730092	genome.wustl.edu	37	16	21821976	21821976	+	RNA	SNP	C	C	A	rs148768203		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:21821976C>A	ENST00000546471.1	-	0	0							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CAAGTGGATACAAAAAAAAAA	0.254																																																	0																																												0					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21821976C>A			A8K6T4|B3KWX9|O75704	RNA	SNP	-	NULL	ENST00000546471.1	37	NULL		16																																																																																			RRN3P1	-	-	ENSG00000248124		0.254	RRN3P1-002	KNOWN	basic	processed_transcript	RRN3P1	HGNC	pseudogene	OTTHUMT00000409035.1		0.00	34	0	C	NR_003370		21821976	-1			no_errors	ENST00000551681	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.002	A
RYR3	6263	genome.wustl.edu	37	15	34102755	34102755	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:34102755G>A	ENST00000389232.4	+	71	10172	c.10102G>A	c.(10102-10104)Gtg>Atg	p.V3368M	RYR3_ENST00000415757.3_Missense_Mutation_p.V3363M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3368					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCCCTCATCGTGGCTGCACT	0.502																																																	0													76.0	95.0	89.0					15																	34102755		1964	4153	6117	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10102G>A	15.37:g.34102755G>A	ENSP00000373884:p.Val3368Met		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V3368M	ENST00000389232.4	37	c.10102	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367218	0.82463	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.67523	-0.27	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.84846	2.72	0.58432	D	0.999991	D;D	0.71674	0.985;0.998	P;D	0.68192	0.599;0.956	D	0.86224	0.1633	10	0.87932	D	0	.	18.813	0.92065	0.0:0.0:1.0:0.0	.	3363;3368	Q15413-2;Q15413	.;RYR3_HUMAN	M	3368;3368;3363	ENSP00000373884:V3368M	ENSP00000354735:V3363M	V	+	1	0	RYR3	31890047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.667000	0.90743	0.561000	0.74099	GTG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	38	0	G			34102755	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
SBNO1	55206	genome.wustl.edu	37	12	123818646	123818646	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:123818646C>T	ENST00000602398.1	-	7	990	c.863G>A	c.(862-864)gGc>gAc	p.G288D	SBNO1_ENST00000420886.2_Missense_Mutation_p.G288D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G287D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G287D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	288					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGATAACCAGCCATTATCAAT	0.368																																																	0													68.0	63.0	65.0					12																	123818646		2203	4300	6503	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.863G>A	12.37:g.123818646C>T	ENSP00000473665:p.Gly288Asp		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.G288D	ENST00000602398.1	37	c.863	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837536	0.91117	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.43294	0.95;0.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.85299	2.745	0.80722	D	1	D;P;D	0.89917	0.999;0.562;1.0	D;P;D	0.91635	0.99;0.537;0.999	T	0.73075	-0.4097	10	0.56958	D	0.05	-16.8169	19.9162	0.97063	0.0:1.0:0.0:0.0	.	288;287;286	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	D	288;287;287	ENSP00000387361:G288D;ENSP00000267176:G287D	ENSP00000267176:G287D	G	-	2	0	SBNO1	122384599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.710000	0.92621	0.650000	0.86243	GGC	SBNO1	-	superfamily_P-loop_NTPase	ENSG00000139697		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1		0.00	50	0	C	NM_018183		123818646	-1			no_errors	ENST00000420886	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T
SCARB1	949	genome.wustl.edu	37	12	125270886	125270886	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:125270886C>T	ENST00000415380.2	-	11	1543	c.1418G>A	c.(1417-1419)aGg>aAg	p.R473K	SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000540495.1_Missense_Mutation_p.R436K|SCARB1_ENST00000544327.1_Missense_Mutation_p.R419K|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.R432K|SCARB1_ENST00000376788.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	473					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCGGGCTGCCCTCTGGCCAGC	0.657																																																	0													87.0	87.0	87.0					12																	125270886		2203	4300	6503	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1418G>A	12.37:g.125270886C>T	ENSP00000414979:p.Arg473Lys		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.R473K	ENST00000415380.2	37	c.1418		12	.	.	.	.	.	.	.	.	.	.	C	2.043	-0.419655	0.04734	.	.	ENSG00000073060	ENST00000415380;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T	0.60920	0.35;0.15;0.15;0.15	2.6	1.56	0.23342	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.10450	0.005;0.002;0.002	T	0.30995	-0.9959	8	0.05436	T	0.98	.	5.9186	0.19070	0.3103:0.6896:0.0:0.0	.	432;473;473	B3KW46;B4E3I1;Q8WTV0	.;.;SCRB1_HUMAN	K	473;432;419;436	ENSP00000414979:R473K;ENSP00000446107:R432K;ENSP00000444851:R419K;ENSP00000443286:R436K	ENSP00000414979:R473K	R	-	2	0	SCARB1	123836839	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.679000	0.05203	1.451000	0.47736	0.505000	0.49811	AGG	SCARB1	-	NULL	ENSG00000073060		0.657	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	-	0.00	37	0	C	NM_005505		125270886	-1	tier1	-	no_errors	ENST00000415380	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T
SDK1	221935	genome.wustl.edu	37	7	4050653	4050653	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:4050653C>T	ENST00000404826.2	+	15	2326	c.2187C>T	c.(2185-2187)acC>acT	p.T729T	SDK1_ENST00000389531.3_Silent_p.T729T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	729	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGCGTCACCGTGAGTGGCC	0.552																																																	0													69.0	63.0	65.0					7																	4050653		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2187C>T	7.37:g.4050653C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T729	ENST00000404826.2	37	c.2187	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	64	0	C	NM_152744		4050653	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	28.77	52	21	SNP	0.450	T
SEC13	6396	genome.wustl.edu	37	3	10342968	10342968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:10342968C>A	ENST00000350697.3	-	9	1071	c.946G>T	c.(946-948)Gag>Tag	p.E316*	SEC13_ENST00000383801.2_Nonsense_Mutation_p.E362*|SEC13_ENST00000397109.3_Nonsense_Mutation_p.E302*|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000337354.4_Nonsense_Mutation_p.E319*|SEC13_ENST00000492602.1_Intron	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCTGGCCCTCTGTCACTGAT	0.607																																																	0													120.0	96.0	104.0					3																	10342968		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.946G>T	3.37:g.10342968C>A	ENSP00000312122:p.Glu316*		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E316*	ENST00000350697.3	37	c.946	CCDS2599.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.616196	0.96649	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	.	.	.	5.23	5.23	0.72850	.	0.288120	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	.	.	.	X	302;319;316;362	.	ENSP00000336566:E319X	E	-	1	0	SEC13	10317968	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG	SEC13	-	NULL	ENSG00000157020		0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3		0.00	28	0	C			10342968	-1			no_errors	ENST00000350697	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	A
SEC1P	653677	genome.wustl.edu	37	19	49183544	49183544	+	RNA	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:49183544C>T	ENST00000430145.2	+	0	631					NR_004401.2				secretory blood group 1, pseudogene																		ACGGGCGGCCCGCCTTCATCC	0.667																																																	0																																												0					19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183544C>T				RNA	SNP	-	NULL	ENST00000430145.2	37	NULL		19																																																																																			SEC1P	-	-	ENSG00000232871		0.667	SEC1P-002	KNOWN	basic	processed_transcript	SEC1P	HGNC	pseudogene	OTTHUMT00000336334.1	-	0.00	101	0	C	NR_004401		49183544	+1	tier1	-	no_errors	ENST00000430145	ensembl	human	known	74_37	rna	28.21	112	44	SNP	0.000	T
SECISBP2L	9728	genome.wustl.edu	37	15	49293250	49293250	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:49293250G>A	ENST00000559471.1	-	15	2335	c.2072C>T	c.(2071-2073)aCt>aTt	p.T691I	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T646I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	691							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GAGAAGAAGAGTCACACATTC	0.373																																																	0													90.0	78.0	82.0					15																	49293250		2197	4295	6492	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2072C>T	15.37:g.49293250G>A	ENSP00000453854:p.Thr691Ile		Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.T691I	ENST00000559471.1	37	c.2072	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808940	0.70797	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74737	-0.87	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.78637	2.42	0.80722	D	1	P;D	0.59767	0.675;0.986	B;P	0.56088	0.091;0.791	D	0.86425	0.1757	10	0.72032	D	0.01	.	18.8493	0.92220	0.0:0.0:1.0:0.0	.	691;646	Q93073;Q93073-2	SBP2L_HUMAN;.	I	646;691	ENSP00000261847:T646I	ENSP00000261847:T646I	T	-	2	0	SECISBP2L	47080542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.394000	0.97261	2.527000	0.85204	0.563000	0.77884	ACT	SECISBP2L	-	NULL	ENSG00000138593		0.373	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	-	0.00	66	0	G	NM_014701		49293250	-1	tier1	-	no_errors	ENST00000559471	ensembl	human	known	74_37	missense	41.56	45	32	SNP	1.000	A
SERPINB12	89777	genome.wustl.edu	37	18	61234074	61234074	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:61234074G>A	ENST00000269491.1	+	7	1048	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.V370M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	350					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CAAAACCTTTGTGGAGGTGGA	0.478																																																	0													88.0	92.0	91.0					18																	61234074		2203	4300	6503	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1048G>A	18.37:g.61234074G>A	ENSP00000269491:p.Val350Met		Q3SYB4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V350M	ENST00000269491.1	37	c.1048	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444525	0.43429	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.83673	-1.75;-1.75	5.81	0.777	0.18538	Serpin domain (3);	0.445220	0.20957	N	0.082627	D	0.88779	0.6529	M	0.85041	2.73	0.47214	D	0.999352	D;D	0.65815	0.995;0.993	D;P	0.67725	0.953;0.844	D	0.85336	0.1093	10	0.87932	D	0	.	5.8899	0.18904	0.0608:0.3322:0.3782:0.2288	.	370;350	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	350;370	ENSP00000269491:V350M;ENSP00000372218:V370M	ENSP00000269491:V350M	V	+	1	0	SERPINB12	59385054	0.980000	0.34600	0.735000	0.30896	0.042000	0.13812	1.733000	0.38156	-0.137000	0.11455	-0.182000	0.12963	GTG	SERPINB12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000166634		0.478	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1		0.00	60	0	G	NM_080474		61234074	+1			no_errors	ENST00000269491	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.994	A
SERPINF2	5345	genome.wustl.edu	37	17	1650412	1650412	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:1650412G>T	ENST00000324015.3	+	6	544	c.467G>T	c.(466-468)gGc>gTc	p.G156V	SERPINF2_ENST00000382061.4_Missense_Mutation_p.G156V|SERPINF2_ENST00000450523.2_Missense_Mutation_p.G92V	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	156					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)	CAGGACCTGGGCCCCGGCGCG	0.672																																																	0													17.0	19.0	18.0					17																	1650412		2197	4278	6475	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.467G>T	17.37:g.1650412G>T	ENSP00000321853:p.Gly156Val		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G156V	ENST00000324015.3	37	c.467	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079861	0.36662	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;T;T;T	0.84660	-1.88;1.19;1.19;1.19	5.36	4.37	0.52481	Serpin domain (3);	0.443997	0.25698	N	0.028890	D	0.83376	0.5241	L	0.59436	1.845	0.51767	D	0.999938	P;P	0.52061	0.95;0.868	P;B	0.45610	0.487;0.431	T	0.83001	-0.0177	10	0.51188	T	0.08	.	10.3843	0.44129	0.0921:0.0:0.9079:0.0	.	92;156	B4E1B7;P08697	.;A2AP_HUMAN	V	156;156;92;92;156	ENSP00000402286:G156V;ENSP00000321853:G156V;ENSP00000403877:G92V;ENSP00000371493:G156V	ENSP00000321853:G156V	G	+	2	0	SERPINF2	1597162	0.995000	0.38212	0.967000	0.41034	0.038000	0.13279	2.367000	0.44213	1.244000	0.43870	0.561000	0.74099	GGC	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000167711		0.672	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3		0.00	83	0	G	NM_000934		1650412	+1			no_errors	ENST00000324015	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	T
SHANK1	50944	genome.wustl.edu	37	19	51165297	51165297	+	Silent	SNP	G	G	A	rs145388631	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:51165297G>A	ENST00000293441.1	-	23	6429	c.6411C>T	c.(6409-6411)taC>taT	p.Y2137Y	SHANK1_ENST00000391814.1_Silent_p.Y2145Y|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391813.1_Silent_p.Y1524Y|SHANK1_ENST00000359082.3_Silent_p.Y2128Y	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2137	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTAGATCGACGTAGTCCTCCT	0.627																																																	0										6,4400	9.9+/-24.2	0,6,2197	80.0	71.0	74.0		6411	-5.7	0.0	19	dbSNP_134	74	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	SHANK1	NM_016148.2		0,14,6489	AA,AG,GG		0.093,0.1362,0.1076		2137/2162	51165297	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6411C>T	19.37:g.51165297G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Y2145	ENST00000293441.1	37	c.6435	CCDS12799.1	19																																																																																			SHANK1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000161681		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0.00	84	0	G	NM_016148		51165297	-1	tier1	rs145388631	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	6.02	125	8	SNP	0.876	A
SHROOM2	357	genome.wustl.edu	37	X	9862635	9862635	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:9862635G>T	ENST00000380913.3	+	4	777	c.687G>T	c.(685-687)acG>acT	p.T229T		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	229					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGACACGTCCTCCGCAG	0.672																																																	0													74.0	56.0	62.0					X																	9862635		2203	4300	6503	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.687G>T	X.37:g.9862635G>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T229	ENST00000380913.3	37	c.687	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0.00	28	0	G	NM_001649		9862635	+1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.276	T
SIPA1L3	23094	genome.wustl.edu	37	19	38609988	38609988	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:38609988C>T	ENST00000222345.6	+	9	2843	c.2334C>T	c.(2332-2334)ccC>ccT	p.P778P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	778	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTTCGGCCCCCCCATCCCCA	0.537																																																	0													69.0	76.0	74.0					19																	38609988		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2334C>T	19.37:g.38609988C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P778	ENST00000222345.6	37	c.2334	CCDS33007.1	19																																																																																			SIPA1L3	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000105738		0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0.00	68	0	C	XM_032278		38609988	+1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	13.70	63	10	SNP	1.000	T
SIGLEC11	114132	genome.wustl.edu	37	19	50464118	50464118	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:50464118T>C	ENST00000447370.2	-	2	241	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.I51V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	51	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAAGACACGATGACACACAGG	0.607																																																	0													16.0	12.0	13.0					19																	50464118		2175	4210	6385	SO:0001583	missense	0			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.151A>G	19.37:g.50464118T>C	ENSP00000412361:p.Ile51Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I51V	ENST00000447370.2	37	c.151	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	T	1.309	-0.602598	0.03744	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.21191	2.02	2.63	-4.59	0.03400	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.013700	0.01868	N	0.037009	T	0.07773	0.0195	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.007;0.012	T	0.18808	-1.0325	10	0.16896	T	0.51	.	3.4609	0.07532	0.4438:0.0:0.3746:0.1816	.	51;51	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	V	51	ENSP00000412361:I51V	ENSP00000412361:I51V	I	-	1	0	SIGLEC11	55155930	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.934000	0.03955	-0.918000	0.03808	-0.472000	0.04984	ATC	SIGLEC11	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000161640		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	-	0.00	112	0	T	NM_052884		50464118	-1	tier1	-	no_errors	ENST00000447370	ensembl	human	known	74_37	missense	22.14	108	31	SNP	0.001	C
SKIV2L2	23517	genome.wustl.edu	37	5	54639246	54639246	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:54639246G>A	ENST00000230640.5	+	8	1123	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R189Q	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCAAATGCCCGACAGTTTGCT	0.338																																					Melanoma(2;92 134 23744 29976 33782)												0													148.0	144.0	146.0					5																	54639246		2203	4299	6502	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.869G>A	5.37:g.54639246G>A	ENSP00000230640:p.Arg290Gln		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R290Q	ENST00000230640.5	37	c.869	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256907	0.80246	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.41065	1.01;1.01	5.93	5.93	0.95920	DEAD-like helicase (2);	0.135902	0.52532	D	0.000077	T	0.47710	0.1460	L	0.49571	1.57	0.80722	D	1	D;P	0.55172	0.97;0.632	P;B	0.47402	0.546;0.327	T	0.23476	-1.0187	10	0.30854	T	0.27	-12.1643	19.95	0.97195	0.0:0.0:1.0:0.0	.	189;290	F5H7E2;P42285	.;SK2L2_HUMAN	Q	290;189	ENSP00000230640:R290Q;ENSP00000442583:R189Q	ENSP00000230640:R290Q	R	+	2	0	SKIV2L2	54675003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	2.812000	0.96745	0.555000	0.69702	CGA	SKIV2L2	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd	ENSG00000039123		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0.00	100	0	G			54639246	+1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	missense	69.23	16	36	SNP	1.000	A
SLC22A5	6584	genome.wustl.edu	37	5	131726389	131726389	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:131726389A>G	ENST00000245407.3	+	7	1281	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.I378V|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	354					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CAGGATGACCATATCAGTGGG	0.423																																																	0													166.0	143.0	151.0					5																	131726389		2203	4300	6503	SO:0001583	missense	0			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1060A>G	5.37:g.131726389A>G	ENSP00000245407:p.Ile354Val		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I378V	ENST00000245407.3	37	c.1132	CCDS4154.1	5	.	.	.	.	.	.	.	.	.	.	A	4.343	0.063110	0.08388	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.73789	-0.78;-0.78	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.040345	0.85682	D	0.000000	T	0.63896	0.2550	N	0.16862	0.45	0.42671	D	0.993518	B;B	0.19331	0.035;0.008	B;B	0.26864	0.074;0.074	T	0.61888	-0.6970	10	0.54805	T	0.06	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	378;354	A2Q0V1;O76082	.;S22A5_HUMAN	V	354;378	ENSP00000245407:I354V;ENSP00000402760:I378V	ENSP00000245407:I354V	I	+	1	0	SLC22A5	131754288	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.406000	0.52637	2.225000	0.72522	0.459000	0.35465	ATA	SLC22A5	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197375		0.423	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	-	0.00	84	0	A	NM_003060		131726389	+1	tier1	-	no_errors	ENST00000435065	ensembl	human	known	74_37	missense	40.59	60	41	SNP	1.000	G
SLC4A7	9497	genome.wustl.edu	37	3	27436082	27436082	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:27436082C>T	ENST00000295736.5	-	20	3087	c.3017G>A	c.(3016-3018)cGt>cAt	p.R1006H	SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1015H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R556H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R998H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R891H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R882H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1006					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1006H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCGCTGTTCACGAATTCCCAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											77.0	75.0	76.0					3																	27436082		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3017G>A	3.37:g.27436082C>T	ENSP00000295736:p.Arg1006His		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.R1015H	ENST00000295736.5	37	c.3044	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.632261	0.96682	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.054724	0.64402	D	0.000001	D	0.91597	0.7345	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.989;0.998;1.0;0.998;0.992;0.981;0.998;0.989	D	0.92249	0.5807	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	1002;887;998;1002;1015;556;882;1006;887	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	557;1006;882;1015;1002;887;998;887;1002;891;556;902	ENSP00000411031:R557H;ENSP00000295736:R1006H;ENSP00000416368:R882H;ENSP00000390394:R1015H;ENSP00000414797:R1002H;ENSP00000394252:R887H;ENSP00000406605:R998H;ENSP00000407382:R887H;ENSP00000406804:R1002H;ENSP00000395336:R891H;ENSP00000373429:R556H;ENSP00000388703:R902H	ENSP00000295736:R1006H	R	-	2	0	SLC4A7	27411086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.728000	0.93425	0.591000	0.81541	CGT	SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.398	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0.00	73	0	C	NM_003615		27436082	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
SLC7A2	6542	genome.wustl.edu	37	8	17419458	17419458	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:17419458C>T	ENST00000494857.1	+	11	1728	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	SLC7A2_ENST00000004531.10_Missense_Mutation_p.L544F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L543F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L504F|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L543F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	504					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCAGCTTTCCTCGTGTTGGG	0.517																																																	0													161.0	135.0	144.0					8																	17419458		2203	4300	6503	SO:0001583	missense	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1510C>T	8.37:g.17419458C>T	ENSP00000419140:p.Leu504Phe		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.L544F	ENST00000494857.1	37	c.1630	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393212	0.25118	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89939	-2.43;-2.43;-2.59;-2.44;-2.59	4.69	3.8	0.43715	.	0.339739	0.31438	N	0.007654	D	0.85383	0.5684	L	0.53249	1.67	0.09310	N	0.999993	B;B;B	0.34061	0.436;0.018;0.096	B;B;B	0.39562	0.303;0.063;0.062	T	0.78986	-0.1987	10	0.66056	D	0.02	.	4.8711	0.13633	0.1565:0.6065:0.1516:0.0854	.	544;543;504	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	F	504;504;543;544;543	ENSP00000419140:L504F;ENSP00000430464:L504F;ENSP00000419873:L543F;ENSP00000004531:L544F;ENSP00000381164:L543F	ENSP00000004531:L544F	L	+	1	0	SLC7A2	17463750	0.796000	0.28864	0.042000	0.18584	0.007000	0.05969	1.304000	0.33482	1.559000	0.49555	-0.176000	0.13171	CTC	SLC7A2	-	tigrfam_Cat_AA_permease	ENSG00000003989		0.517	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	-	0.00	35	0	C	NM_003046		17419458	+1	tier1	-	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	37.50	39	24	SNP	0.075	T
SMARCA4	6597	genome.wustl.edu	37	19	11132405	11132405	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:11132405G>A	ENST00000429416.3	+	20	2902	c.2621G>A	c.(2620-2622)cGt>cAt	p.R874H	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R874H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R874H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R874H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R874H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R874H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	874	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				CCGCAGATCCGTTGGAAGTAC	0.632			"""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)											49.0	40.0	43.0					19																	11132405		2202	4300	6502	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.2621G>A	19.37:g.11132405G>A	ENSP00000395654:p.Arg874His		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.R874H	ENST00000429416.3	37	c.2621	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634898	0.47049	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	4.66	3.63	0.41609	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	N	0.05534	-0.03	0.58432	D	0.999998	P;P;P;P;D;B;P;P	0.89917	0.877;0.877;0.877;0.76;1.0;0.187;0.877;0.877	B;B;B;P;D;B;B;B	0.79784	0.43;0.43;0.43;0.581;0.993;0.074;0.43;0.43	D	0.91709	0.5380	10	0.52906	T	0.07	-20.8892	11.7624	0.51912	0.0872:0.0:0.9128:0.0	.	874;874;874;874;874;94;874;874	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	H	874;874;938;874;874;874;874;874	ENSP00000395654:R874H;ENSP00000350720:R874H;ENSP00000343896:R874H;ENSP00000445036:R874H;ENSP00000392837:R874H;ENSP00000397783:R874H;ENSP00000414727:R874H	ENSP00000343896:R874H	R	+	2	0	SMARCA4	10993405	1.000000	0.71417	0.952000	0.39060	0.095000	0.18619	7.810000	0.86072	1.197000	0.43143	-0.136000	0.14681	CGT	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	83	0	G	NM_003072		11132405	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	11.59	61	8	SNP	0.998	A
SOBP	55084	genome.wustl.edu	37	6	107908317	107908317	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:107908317C>T	ENST00000317357.5	+	5	1266	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGAAAATTTTCCCCAGCAGCA	0.368																																																	0													173.0	163.0	166.0					6																	107908317		1850	4095	5945	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.607C>T	6.37:g.107908317C>T	ENSP00000318900:p.Pro203Ser			Missense_Mutation	SNP	NULL	p.P203S	ENST00000317357.5	37	c.607	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973349	0.53614	.	.	ENSG00000112320	ENST00000317357	T	0.18174	2.23	5.86	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.09291	0.0229	L	0.47716	1.5	0.58432	D	0.999992	B	0.27166	0.17	B	0.23419	0.046	T	0.03166	-1.1065	10	0.87932	D	0	-3.9517	14.9773	0.71283	0.0:0.9318:0.0:0.0682	.	203	A7XYQ1	SOBP_HUMAN	S	203	ENSP00000318900:P203S	ENSP00000318900:P203S	P	+	1	0	SOBP	108015010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.801000	0.75170	1.490000	0.48466	0.655000	0.94253	CCC	SOBP	-	NULL	ENSG00000112320		0.368	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2		0.00	59	0	C	NM_018013		107908317	+1			no_errors	ENST00000317357	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
SPOCD1	90853	genome.wustl.edu	37	1	32256601	32256601	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:32256601G>A	ENST00000360482.2	-	16	3383	c.3254C>T	c.(3253-3255)gCt>gTt	p.A1085V	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.A565V|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A1072V|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1085					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTCTGCCAAGCAGAGATTCC	0.682																																																	0													20.0	22.0	21.0					1																	32256601		2201	4298	6499	SO:0001583	missense	0			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3254C>T	1.37:g.32256601G>A	ENSP00000353670:p.Ala1085Val		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.A1085V	ENST00000360482.2	37	c.3254	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092390	0.55968	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231	T;T;T;T	0.58797	0.33;1.47;0.31;1.49	4.88	3.95	0.45737	.	.	.	.	.	T	0.61248	0.2332	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.941;0.965	T	0.65034	-0.6266	9	0.72032	D	0.01	-0.6941	11.7574	0.51882	0.0:0.1786:0.8214:0.0	.	1072;508;1085	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	V	565;1085;508;1072	ENSP00000257100:A565V;ENSP00000353670:A1085V;ENSP00000399778:A508V;ENSP00000435851:A1072V	ENSP00000257100:A565V	A	-	2	0	SPOCD1	32029188	0.002000	0.14202	0.991000	0.47740	0.412000	0.31113	0.934000	0.28910	1.345000	0.45676	0.655000	0.94253	GCT	SPOCD1	-	NULL	ENSG00000134668		0.682	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1		0.00	77	0	G	NM_144569		32256601	-1			no_errors	ENST00000360482	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	A
SPTA1	6708	genome.wustl.edu	37	1	158617433	158617433	+	Silent	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:158617433T>C	ENST00000368147.4	-	27	3972	c.3792A>G	c.(3790-3792)aaA>aaG	p.K1264K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1264					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCTCCATTTTCTGTCTCT	0.547																																																	0													94.0	95.0	95.0					1																	158617433		1978	4167	6145	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3792A>G	1.37:g.158617433T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1264	ENST00000368147.4	37	c.3792	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	34	0	T	NM_003126		158617433	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	25.40	47	16	SNP	0.000	C
SSC4D	136853	genome.wustl.edu	37	7	76018707	76018707	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:76018707C>T	ENST00000275560.3	-	0	2744				SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGGTGGCTACAGGCCCCCAG	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000275560.3:c.*669G>A	7.37:g.76018707C>T				RNA	SNP	-	NULL	ENST00000275560.3	37	NULL	CCDS5585.1	7																																																																																			SRCRB4D	-	-	ENSG00000146700		0.537	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	-	0.00	44	0	C			76018707	-1	tier1	-	no_errors	ENST00000492979	ensembl	human	known	74_37	rna	7.69	48	4	SNP	0.981	T
SSR1	6745	genome.wustl.edu	37	6	7290165	7290165	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:7290165C>T	ENST00000244763.4	-	8	880		c.e8-1		SSR1_ENST00000489567.1_Splice_Site|SSR1_ENST00000534851.1_Splice_Site|SSR1_ENST00000397511.2_Splice_Site|SSR1_ENST00000474597.1_Splice_Site|SSR1_ENST00000479365.1_Splice_Site|RP11-69L16.4_ENST00000379928.4_RNA	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GAAGCTTTATCTGGAAGAAAA	0.358																																																	0													83.0	75.0	78.0					6																	7290165		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.794-1G>A	6.37:g.7290165C>T			A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Splice_Site	SNP	-	e8-1	ENST00000244763.4	37	c.794-1	CCDS4499.1	6	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528817	0.64860	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1931	0.89813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSR1	7235164	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.053000	0.71089	2.527000	0.85204	0.563000	0.77884	.	SSR1	-	-	ENSG00000124783		0.358	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR1	HGNC	protein_coding	OTTHUMT00000039775.2	-	0.00	23	0	C		Intron	7290165	-1	tier1	-	no_errors	ENST00000244763	ensembl	human	known	74_37	splice_site	73.33	4	11	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152577787	152577787	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:152577787G>A	ENST00000367255.5	-	102	19687	c.19086C>T	c.(19084-19086)ttC>ttT	p.F6362F	SYNE1_ENST00000423061.1_Silent_p.F6291F|SYNE1_ENST00000341594.5_Silent_p.F5974F|SYNE1_ENST00000265368.4_Silent_p.F6362F|SYNE1_ENST00000356820.4_Silent_p.F886F|SYNE1_ENST00000448038.1_Silent_p.F6291F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6362					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)		AAACCTCCTCGAAGGCTTGGT	0.463										HNSCC(10;0.0054)																																							0													145.0	120.0	128.0					6																	152577787		2203	4300	6503	SO:0001819	synonymous_variant	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.19086C>T	6.37:g.152577787G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	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.F6362	ENST00000367255.5	37	c.19086	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	83	0	G	NM_182961		152577787	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.058	A
TAF1	6872	genome.wustl.edu	37	X	70678159	70678159	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:70678159G>T	ENST00000373790.4	+	35	5055	c.5004G>T	c.(5002-5004)gaG>gaT	p.E1668D	TAF1_ENST00000423759.1_Missense_Mutation_p.E1691D|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.E1668D|TAF1_ENST00000276072.3_Missense_Mutation_p.E1689D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1668	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTCAAGATGAGAGCAATATGT	0.408																																																	0													216.0	179.0	191.0					X																	70678159		2203	4300	6503	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5004G>T	X.37:g.70678159G>T	ENSP00000362895:p.Glu1668Asp		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1668D	ENST00000373790.4	37	c.5004	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.82|12.82	2.051104|2.051104	0.36181|0.36181	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.09630|.	2.96;3.06;3.01;2.97|.	5.31|5.31	4.43|4.43	0.53597|0.53597	.|.	0.048769|.	0.85682|.	D|.	0.000000|.	T|T	0.40645|0.40645	0.1125|0.1125	N|N	0.14661|0.14661	0.345|0.345	0.39094|0.39094	D|D	0.961152|0.961152	B;P;P;D|.	0.56035|.	0.064;0.844;0.956;0.974|.	B;B;D;D|.	0.70487|.	0.015;0.205;0.931;0.969|.	T|T	0.31081|0.31081	-0.9956|-0.9956	10|5	0.15066|.	T|.	0.55|.	.|.	12.0501|12.0501	0.53501|0.53501	0.145:0.0:0.855:0.0|0.145:0.0:0.855:0.0	.|.	324;1668;1668;1689|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	D|I	1668;1668;1691;376;1689|323	ENSP00000362895:E1668D;ENSP00000389000:E1668D;ENSP00000406549:E1691D;ENSP00000276072:E1689D|.	ENSP00000276072:E1689D|.	E|R	+|+	3|2	2|0	TAF1|TAF1	70594884|70594884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.229000|1.229000	0.32600|0.32600	2.449000|2.449000	0.82847|0.82847	0.600000|0.600000	0.82982|0.82982	GAG|AGA	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	-	0.00	45	0	G	NM_004606		70678159	+1	tier1	-	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
TAF4B	6875	genome.wustl.edu	37	18	23845280	23845280	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:23845280G>A	ENST00000269142.5	+	2	1487		c.e2+1		RP11-25D3.1_ENST00000580975.1_RNA|TAF4B_ENST00000400466.2_Splice_Site|TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TACAGTGCCGGTAATATACCT	0.348																																																	0													99.0	94.0	96.0					18																	23845280		1873	4103	5976	SO:0001630	splice_region_variant	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.489+1G>A	18.37:g.23845280G>A			Q29YA4|Q29YA5	Splice_Site	SNP	-	e2+1	ENST00000269142.5	37	c.489+1	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306808	0.23821	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7927	0.85593	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22099278	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	6.058000	0.71126	2.454000	0.82982	0.557000	0.71058	.	TAF4B	-	-	ENSG00000141384		0.348	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	-	0.00	60	0	G	NM_005640	Intron	23845280	+1	tier1	-	no_errors	ENST00000269142	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	A
TBC1D10C	374403	genome.wustl.edu	37	11	67174340	67174340	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:67174340C>T	ENST00000542590.1	+	7	705	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.R231W			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	231	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCCTGCTGCGGCGGCTGCT	0.692																																																	0													53.0	58.0	56.0					11																	67174340		2194	4283	6477	SO:0001583	missense	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.691C>T	11.37:g.67174340C>T	ENSP00000443654:p.Arg231Trp		G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R231W	ENST00000542590.1	37	c.691	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811701	0.70797	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.26373	1.74;1.74	3.88	0.531	0.17108	Rab-GAP/TBC domain (5);	0.202066	0.24258	N	0.040107	T	0.45518	0.1346	M	0.77486	2.375	0.42236	D	0.991912	D	0.71674	0.998	D	0.70016	0.967	T	0.45071	-0.9286	10	0.87932	D	0	.	9.0054	0.36109	0.2629:0.5913:0.1458:0.0	.	231	Q8IV04	TB10C_HUMAN	W	231	ENSP00000310193:R231W;ENSP00000443654:R231W	ENSP00000310193:R231W	R	+	1	2	TBC1D10C	66930916	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	1.247000	0.32815	0.281000	0.22233	0.462000	0.41574	CGG	TBC1D10C	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000175463		0.692	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	-	0.00	46	0	C	NM_198517		67174340	+1	tier1	-	no_errors	ENST00000312390	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T
TBC1D2B	23102	genome.wustl.edu	37	15	78317742	78317742	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:78317742G>T	ENST00000300584.3	-	5	944	c.945C>A	c.(943-945)caC>caA	p.H315Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.H315Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	315							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCACTGCTGTGACGATTTT	0.522																																																	0													114.0	100.0	105.0					15																	78317742		2196	4293	6489	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.945C>A	15.37:g.78317742G>T	ENSP00000300584:p.His315Gln		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.H315Q	ENST00000300584.3	37	c.945	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.035|9.035	0.988206|0.988206	0.18966|0.18966	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.07688|.	3.17;3.17|.	5.61|5.61	2.57|2.57	0.30868|0.30868	.|.	0.357975|.	0.34200|.	N|.	0.004175|.	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.41236|0.41236	1.265|1.265	0.30034|0.30034	N|N	0.813195|0.813195	P;B|.	0.37276|.	0.589;0.309|.	B;B|.	0.32864|.	0.154;0.073|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|5	0.59425|.	D|.	0.04|.	.|.	8.4465|8.4465	0.32845|0.32845	0.126:0.1642:0.7098:0.0|0.126:0.1642:0.7098:0.0	.|.	315;315|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	Q|K	315;315;203|197	ENSP00000387165:H315Q;ENSP00000300584:H315Q|.	ENSP00000300584:H315Q|.	H|T	-|-	3|2	2|0	TBC1D2B|TBC1D2B	76104797|76104797	1.000000|1.000000	0.71417|0.71417	0.617000|0.617000	0.29091|0.29091	0.329000|0.329000	0.28539|0.28539	1.043000|1.043000	0.30316|0.30316	1.258000|1.258000	0.44101|0.44101	0.555000|0.555000	0.69702|0.69702	CAC|ACA	TBC1D2B	-	NULL	ENSG00000167202		0.522	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0.00	64	0	G	NM_015079		78317742	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.728	T
TCEB3B	51224	genome.wustl.edu	37	18	44560144	44560144	+	Silent	SNP	G	G	T	rs549369877		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:44560144G>T	ENST00000332567.4	-	1	1844	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	498			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTCCTCCCGGAACTTTGGT	0.602																																																	0													66.0	75.0	72.0					18																	44560144		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1492C>A	18.37:g.44560144G>T			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R498	ENST00000332567.4	37	c.1492	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.602	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0.00	76	0	G	NM_016427		44560144	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.004	T
TCF12	6938	genome.wustl.edu	37	15	57578620	57578623	+	3'UTR	DEL	CAAT	CAAT	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	CAAT	CAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:57578620_57578623delCAAT	ENST00000267811.5	+	0	2630_2633				TCF12_ENST00000438423.2_3'UTR|TCF12_ENST00000559703.1_3'UTR|TCF12_ENST00000333725.5_3'UTR|TCF12_ENST00000557843.1_3'UTR|TCF12_ENST00000452095.2_3'UTR|TCF12_ENST00000559710.1_3'UTR|TCF12_ENST00000343827.3_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGCTTCTGCACAATCAGAGACTGT	0.402			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0																																										SO:0001624	3_prime_UTR_variant	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.*280CAAT>-	15.37:g.57578620_57578623delCAAT			Q7Z3D9|Q86TC1|Q86VM2	RNA	DEL	-	NULL	ENST00000267811.5	37	NULL	CCDS10159.1	15																																																																																			TCF12	-	-	ENSG00000140262		0.402	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3		0.00	25	0	CAAT	NM_003205		57578623	+1	tier1		no_errors	ENST00000560190	ensembl	human	known	74_37	rna	57.14	15	20	DEL	1.000:1.000:1.000:1.000	-
TERF1	7013	genome.wustl.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E58in_frame_del	ENST00000276603.5	37	c.163_165	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000147601		0.650	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1		0.00	43	0	GAG	NM_017489		73921286	+1	tier1		no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_del	12.90	27	4	DEL	0.121:0.130:0.144	-
TESK2	10420	genome.wustl.edu	37	1	45809609	45809610	+	3'UTR	INS	-	-	A	rs201765742|rs370623280		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:45809609_45809610insA	ENST00000372086.3	-	0	3018_3019				TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000341771.6_3'UTR|TOE1_ENST00000372090.5_3'UTR|TOE1_ENST00000495703.1_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						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)					GAAAGTTTTACAAAAAAAAAAA	0.366																																																	0																																										SO:0001624	3_prime_UTR_variant	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.*903->T	1.37:g.45809620_45809620dupA			Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	INS	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-	ENSG00000070759		0.366	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1		0.00	49	0	-	NM_007170		45809610	-1	tier1		no_errors	ENST00000486676	ensembl	human	known	74_37	rna	11.11	40	5	INS	0.501:0.794	A
TFE3	7030	genome.wustl.edu	37	X	48887781	48887781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:48887781delC	ENST00000315869.7	-	10	1875	c.1616delG	c.(1615-1617)ggtfs	p.G539fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	539					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGACAGGGCACCCCCCGACAG	0.677			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													24.0	21.0	22.0					X																	48887781		2203	4295	6498	SO:0001589	frameshift_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1616delG	X.37:g.48887781delC	ENSP00000314129:p.Gly539fs		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Del	DEL	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G539fs	ENST00000315869.7	37	c.1616	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.677	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2		0.00	52	0	C	NM_006521		48887781	-1	tier1		no_errors	ENST00000315869	ensembl	human	known	74_37	frame_shift_del	6.25	45	3	DEL	0.001	-
TFG	10342	genome.wustl.edu	37	3	100432649	100432649	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:100432649G>T	ENST00000240851.4	+	2	460	c.120G>T	c.(118-120)atG>atT	p.M40I	TFG_ENST00000490574.1_Missense_Mutation_p.M40I|TFG_ENST00000476228.1_Missense_Mutation_p.M40I|TFG_ENST00000418917.2_Missense_Mutation_p.M40I	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	40					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGCTAATGATGCAACGAGTTT	0.318			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													82.0	84.0	83.0					3																	100432649		2203	4300	6503	SO:0001583	missense	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.120G>T	3.37:g.100432649G>T	ENSP00000240851:p.Met40Ile		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.M40I	ENST00000240851.4	37	c.120	CCDS2939.1	3	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893688	0.72639	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.9	5.9	0.94986	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.73753	2.245	0.80722	D	1	P;P	0.49559	0.908;0.925	D;D	0.67900	0.922;0.954	T	0.28396	-1.0045	10	0.87932	D	0	-8.4022	20.2789	0.98501	0.0:0.0:1.0:0.0	.	40;40	G5E9V1;Q92734	.;TFG_HUMAN	I	40	ENSP00000397182:M40I;ENSP00000419960:M40I;ENSP00000240851:M40I;ENSP00000419559:M40I;ENSP00000417952:M40I;ENSP00000419504:M40I;ENSP00000420797:M40I	ENSP00000240851:M40I	M	+	3	0	TFG	101915339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.373000	0.97168	2.788000	0.95919	0.650000	0.86243	ATG	TFG	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000114354		0.318	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1		0.00	59	0	G	NM_006070		100432649	+1			no_errors	ENST00000240851	ensembl	human	known	74_37	missense	5.06	74	4	SNP	1.000	T
TGFA	7039	genome.wustl.edu	37	2	70680449	70680449	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:70680449C>T	ENST00000295400.6	-	5	623	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	AC017084.1_ENST00000401177.2_RNA|TGFA_ENST00000445399.1_Missense_Mutation_p.V125I|TGFA_ENST00000450929.1_Missense_Mutation_p.V131I|TGFA_ENST00000444975.1_Missense_Mutation_p.V132I|TGFA_ENST00000418333.2_Missense_Mutation_p.V125I	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	126					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						TGTTTTCGGACCTGGCAGCAG	0.642																																																	0													56.0	64.0	62.0					2																	70680449		2203	4300	6503	SO:0001583	missense	0				CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.376G>A	2.37:g.70680449C>T	ENSP00000295400:p.Val126Ile		A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.V126I	ENST00000295400.6	37	c.376	CCDS1905.1	2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711303	0.30322	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.87	3.7	0.42460	.	0.460210	0.22834	N	0.055074	T	0.04770	0.0129	N	0.04880	-0.145	0.23506	N	0.99753	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.004;0.003;0.001;0.001;0.001;0.0;0.0	T	0.41502	-0.9505	10	0.08599	T	0.76	.	4.4167	0.11459	0.0:0.6107:0.2078:0.1815	.	131;132;125;126;125;125;126	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	I	126;125;125;131;132	ENSP00000295400:V126I;ENSP00000387493:V125I;ENSP00000404099:V125I;ENSP00000414127:V131I;ENSP00000404131:V132I	ENSP00000295400:V126I	V	-	1	0	TGFA	70533957	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	0.422000	0.21296	1.601000	0.50113	0.655000	0.94253	GTC	TGFA	-	NULL	ENSG00000163235		0.642	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TGFA	HGNC	protein_coding	OTTHUMT00000251870.2	-	0.00	70	0	C			70680449	-1	tier1	-	no_errors	ENST00000295400	ensembl	human	known	74_37	missense	37.68	43	26	SNP	1.000	T
THAP4	51078	genome.wustl.edu	37	2	242541323	242541323	+	Silent	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:242541323G>T	ENST00000407315.1	-	5	2033	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	THAP4_ENST00000402545.1_Silent_p.P122P|THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402136.1_Silent_p.P122P	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	534							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCTCTACGTGGGGCTCCTTGG	0.632																																																	0													119.0	94.0	103.0					2																	242541323		2203	4296	6499	SO:0001819	synonymous_variant	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1602C>A	2.37:g.242541323G>T			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P534	ENST00000407315.1	37	c.1602	CCDS2551.1	2																																																																																			THAP4	-	pfam_DUF1794,superfamily_Calycin-like	ENSG00000176946		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3		0.00	78	0	G	NM_015963		242541323	-1			no_errors	ENST00000407315	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.949	T
TLN2	83660	genome.wustl.edu	37	15	63063221	63063221	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:63063221C>A	ENST00000561311.1	+	41	5485	c.5255C>A	c.(5254-5256)tCc>tAc	p.S1752Y	TLN2_ENST00000306829.6_Missense_Mutation_p.S1752Y|TLN2_ENST00000472902.1_Missense_Mutation_p.S145Y			Q9Y4G6	TLN2_HUMAN	talin 2	1752					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGTGTGGCCTCCAAGATTCTT	0.463																																																	0													126.0	117.0	120.0					15																	63063221		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5255C>A	15.37:g.63063221C>A	ENSP00000453508:p.Ser1752Tyr		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_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.S1752Y	ENST00000561311.1	37	c.5255	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776755	0.90195	.	.	ENSG00000171914	ENST00000306829	T	0.14144	2.53	5.39	5.39	0.77823	.	0.046197	0.85682	D	0.000000	T	0.44829	0.1312	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.81914	0.995;0.943	T	0.46803	-0.9165	10	0.87932	D	0	-19.0671	19.3562	0.94414	0.0:1.0:0.0:0.0	.	796;1752	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Y	1752	ENSP00000303476:S1752Y	ENSP00000303476:S1752Y	S	+	2	0	TLN2	60850513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.804000	0.96469	0.655000	0.94253	TCC	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0.00	40	0	C			63063221	+1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A
TMCC1	23023	genome.wustl.edu	37	3	129547039	129547039	+	Silent	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:129547039C>T	ENST00000393238.3	-	3	523	c.183G>A	c.(181-183)agG>agA	p.R61R	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	61						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGATGACCTCCTGCGCTGGT	0.463																																																	0													91.0	77.0	82.0					3																	129547039		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.183G>A	3.37:g.129547039C>T			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.R61	ENST00000393238.3	37	c.183	CCDS33855.1	3																																																																																			TMCC1	-	NULL	ENSG00000172765		0.463	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	-	0.00	53	0	C	NM_015008		129547039	-1	tier1	-	no_errors	ENST00000393238	ensembl	human	known	74_37	silent	45.83	39	33	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578517	7578517	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:7578517G>A	ENST00000269305.4	-	5	602	c.413C>T	c.(412-414)gCc>gTc	p.A138V	TP53_ENST00000420246.2_Missense_Mutation_p.A138V|TP53_ENST00000413465.2_Missense_Mutation_p.A138V|TP53_ENST00000445888.2_Missense_Mutation_p.A138V|TP53_ENST00000359597.4_Missense_Mutation_p.A138V|TP53_ENST00000455263.2_Missense_Mutation_p.A138V|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.A138V(20)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.C42fs*9(1)|p.A6V(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A45V(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)	GCAGGTCTTGGCCAGTTGGCA	0.567		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"""	54	Substitution - Missense(22)|Deletion - In frame(13)|Deletion - Frameshift(10)|Whole gene deletion(8)|Complex - deletion inframe(1)	large_intestine(9)|ovary(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|breast(6)|stomach(4)|lung(4)|bone(4)|central_nervous_system(3)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|liver(1)											54.0	54.0	54.0					17																	7578517		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.413C>T	17.37:g.7578517G>A	ENSP00000269305:p.Ala138Val		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.A138V	ENST00000269305.4	37	c.413	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067507	0.76301	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.70595	2.14	0.58432	D	0.999998	P;P;D;P;D;D;D	0.89917	0.821;0.952;0.981;0.886;0.984;0.98;1.0	P;P;P;B;P;P;D	0.91635	0.528;0.716;0.646;0.328;0.813;0.771;0.999	D	0.96765	0.9564	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:0.0:1.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138V;ENSP00000352610:A138V;ENSP00000269305:A138V;ENSP00000398846:A138V;ENSP00000391127:A138V;ENSP00000391478:A138V;ENSP00000425104:A6V;ENSP00000423862:A45V;ENSP00000424104:A138V	ENSP00000269305:A138V	A	-	2	0	TP53	7519242	1.000000	0.71417	0.989000	0.46669	0.377000	0.30045	5.601000	0.67606	2.733000	0.93635	0.655000	0.94253	GCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	55	0	G	NM_000546		7578517	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.00	11	33	SNP	1.000	A
TPST2	8459	genome.wustl.edu	37	22	26937050	26937050	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:26937050G>A	ENST00000338754.4	-	3	817	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	TPST2_ENST00000403880.1_Missense_Mutation_p.R183W|TPST2_ENST00000398110.2_Missense_Mutation_p.R183W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	183					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGCCGTCCCGCACCATCAGC	0.607																																																	0													86.0	69.0	75.0					22																	26937050		2203	4300	6503	SO:0001583	missense	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.547C>T	22.37:g.26937050G>A	ENSP00000339813:p.Arg183Trp		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R183W	ENST00000338754.4	37	c.547	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079586	0.76528	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	T;T;T	0.79940	-1.32;-1.32;-1.32	5.01	3.98	0.46160	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	D	0.92338	0.7569	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93862	0.7154	10	0.87932	D	0	-29.0867	12.8514	0.57860	0.0796:0.0:0.9204:0.0	.	183	O60704	TPST2_HUMAN	W	183;183;183;116	ENSP00000339813:R183W;ENSP00000381180:R183W;ENSP00000385192:R183W	ENSP00000339813:R183W	R	-	1	2	TPST2	25267050	1.000000	0.71417	0.951000	0.38953	0.750000	0.42670	5.933000	0.70130	1.099000	0.41499	0.609000	0.83330	CGG	TPST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000128294		0.607	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	-	0.00	60	0	G	NM_003595		26937050	-1	tier1	-	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	55.81	19	24	SNP	1.000	A
TRHDE	29953	genome.wustl.edu	37	12	73012777	73012777	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:73012777G>T	ENST00000261180.4	+	13	2389	c.2293G>T	c.(2293-2295)Gat>Tat	p.D765Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	765					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCCTCTAGATAAATTACT	0.348																																																	0													49.0	52.0	51.0					12																	73012777		2202	4300	6502	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2293G>T	12.37:g.73012777G>T	ENSP00000261180:p.Asp765Tyr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D765Y	ENST00000261180.4	37	c.2293	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156265	0.57259	.	.	ENSG00000072657	ENST00000261180	T	0.05649	3.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.33753	1.03	0.80722	D	1	P	0.48162	0.906	P	0.49922	0.626	T	0.15752	-1.0426	10	0.24483	T	0.36	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	765	Q9UKU6	TRHDE_HUMAN	Y	765	ENSP00000261180:D765Y	ENSP00000261180:D765Y	D	+	1	0	TRHDE	71299044	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.055000	0.93873	2.885000	0.99019	0.655000	0.94253	GAT	TRHDE	-	NULL	ENSG00000072657		0.348	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0.00	82	0	G	NM_013381		73012777	+1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
TRHDE	29953	genome.wustl.edu	37	12	73046867	73046867	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:73046867C>T	ENST00000261180.4	+	17	2876	c.2780C>T	c.(2779-2781)gCt>gTt	p.A927V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	927					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCCATGTAGCTCGAAATCCA	0.353																																																	0													87.0	85.0	86.0					12																	73046867		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2780C>T	12.37:g.73046867C>T	ENSP00000261180:p.Ala927Val		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A927V	ENST00000261180.4	37	c.2780	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421970	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.06218	3.33	5.47	5.47	0.80525	.	0.055019	0.64402	D	0.000001	T	0.23094	0.0558	L	0.59967	1.855	0.58432	D	0.999998	D	0.71674	0.998	D	0.69307	0.963	T	0.00101	-1.2064	10	0.72032	D	0.01	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	927	Q9UKU6	TRHDE_HUMAN	V	927	ENSP00000261180:A927V	ENSP00000261180:A927V	A	+	2	0	TRHDE	71333134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.866000	0.63005	2.582000	0.87167	0.655000	0.94253	GCT	TRHDE	-	NULL	ENSG00000072657		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0.00	63	0	C	NM_013381		73046867	+1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	23.21	42	13	SNP	1.000	T
TRPV6	55503	genome.wustl.edu	37	7	142572851	142572851	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:142572851T>C	ENST00000359396.3	-	9	1434	c.1189A>G	c.(1189-1191)Atc>Gtc	p.I397V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	397					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGATGATGATAGCCCCAATG	0.552																																																	0													146.0	132.0	137.0					7																	142572851		2203	4300	6503	SO:0001583	missense	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1189A>G	7.37:g.142572851T>C	ENSP00000352358:p.Ile397Val		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.I397V	ENST00000359396.3	37	c.1189	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.578447	0.00879	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85484	-1.99;-1.99	4.74	-0.957	0.10350	.	0.907495	0.09514	N	0.791894	T	0.54415	0.1857	N	0.01705	-0.755	0.26466	N	0.975352	B	0.02656	0.0	B	0.06405	0.002	T	0.51942	-0.8641	10	0.02654	T	1	-6.6657	1.9166	0.03298	0.1222:0.3914:0.2625:0.2239	.	397	Q9H1D0	TRPV6_HUMAN	V	397;229;20	ENSP00000352358:I397V;ENSP00000411100:I20V	ENSP00000310825:I229V	I	-	1	0	TRPV6	142282973	0.000000	0.05858	0.813000	0.32504	0.543000	0.35085	-2.274000	0.01163	-0.223000	0.09943	-1.262000	0.01453	ATC	TRPV6	-	tigrfam_TRP_channel	ENSG00000165125		0.552	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	-	0.00	63	0	T	NM_014274		142572851	-1	tier1	-	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	85.19	8	46	SNP	0.273	C
TTC6	319089	genome.wustl.edu	37	14	38208059	38208059	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:38208059A>G	ENST00000553443.1	+	10	2062	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V				Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	0										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCAAAGCAGTATAAAAGAGGT	0.378																																																	0																																										SO:0001583	missense	0			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000553443.1:c.2062A>G	14.37:g.38208059A>G	ENSP00000451131:p.Ile688Val		Q3SY88|Q96CE6	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I688V	ENST00000553443.1	37	c.2062		14	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915801	0.33815	.	.	ENSG00000139865	ENST00000553443	T	0.72167	-0.63	5.28	1.1	0.20463	.	.	.	.	.	T	0.61489	0.2351	.	.	.	.	.	.	.	.	.	.	.	.	T	0.61103	-0.7130	4	.	.	.	.	5.9866	0.19438	0.5439:0.3002:0.0:0.1559	.	.	.	.	V	688	ENSP00000451131:I688V	.	I	+	1	0	TTC6	37277810	0.723000	0.28027	0.076000	0.20297	0.271000	0.26615	0.437000	0.21543	0.340000	0.23745	0.533000	0.62120	ATA	TTC6	-	NULL	ENSG00000139865		0.378	TTC6-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TTC6	HGNC	protein_coding	OTTHUMT00000348620.4	-	0.00	39	0	A	XM_002343299		38208059	+1	tier1	-	no_errors	ENST00000553443	ensembl	human	novel	74_37	missense	32.14	19	9	SNP	0.133	G
TTTY14	83869	genome.wustl.edu	37	Y	21239223	21239223	+	IGR	DEL	G	G	-			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrY:21239223delG								RNU6-255P (58250 upstream) : BCORP1 (378093 downstream)																							ACCCGGCGCTGGTGCAGGCTG	0.662																																																	0																																										SO:0001628	intergenic_variant	0																															Y.37:g.21239223delG				RNA	DEL	-	NULL		37	NULL		Y																																																																																			TTTY14	-	-	ENSG00000176728	0	0.662					TTTY14	HGNC				0.00	74	0	G			21239223	-1	tier1		no_errors	ENST00000331787	ensembl	human	known	74_37	rna	13.33	13	2	DEL	0.030	-
UBN2	254048	genome.wustl.edu	37	7	138946353	138946353	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:138946353C>A	ENST00000473989.3	+	6	1261	c.1261C>A	c.(1261-1263)Cta>Ata	p.L421I	UBN2_ENST00000288561.8_Missense_Mutation_p.L338I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	421						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGGTAGCCCCCTATCTGAGTC	0.488																																																	0													87.0	84.0	85.0					7																	138946353		1908	4119	6027	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1261C>A	7.37:g.138946353C>A	ENSP00000418648:p.Leu421Ile		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.L421I	ENST00000473989.3	37	c.1261	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981552	0.34942	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.23552	1.9;1.9	6.08	3.17	0.36434	.	0.374783	0.27735	N	0.018070	T	0.18964	0.0455	L	0.43152	1.355	0.09310	N	1	B	0.26318	0.146	B	0.21360	0.034	T	0.14615	-1.0466	9	.	.	.	-9.0329	8.9325	0.35680	0.0:0.6195:0.2214:0.1591	.	421	Q6ZU65	UBN2_HUMAN	I	421;338	ENSP00000418648:L421I;ENSP00000288561:L338I	.	L	+	1	2	UBN2	138596893	0.000000	0.05858	0.990000	0.47175	0.936000	0.57629	0.738000	0.26158	0.924000	0.37069	-0.126000	0.14955	CTA	UBN2	-	NULL	ENSG00000157741		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	-	0.00	51	0	C	NM_173569		138946353	+1	tier1	-	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.245	A
UFC1	51506	genome.wustl.edu	37	1	161127558	161127558	+	Intron	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:161127558C>T	ENST00000368003.5	+	4	578				USP21_ENST00000368001.1_5'Flank|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000289865.8_5'Flank|UFC1_ENST00000473766.1_3'UTR|USP21_ENST00000368002.3_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1						protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			gggagagcatcaggaagaata	0.443																																																	0																																										SO:0001627	intron_variant	0			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.332+75C>T	1.37:g.161127558C>T			A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	RNA	SNP	-	NULL	ENST00000368003.5	37	NULL	CCDS1220.1	1																																																																																			UFC1	-	-	ENSG00000143222		0.443	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFC1	HGNC	protein_coding	OTTHUMT00000080810.1	-	0.00	19	0	C	NM_016406		161127558	+1	tier1	-	no_errors	ENST00000473766	ensembl	human	known	74_37	rna	38.10	13	8	SNP	0.000	T
USP8	9101	genome.wustl.edu	37	15	50785055	50785055	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:50785055G>C	ENST00000396444.3	+	15	2730	c.2392G>C	c.(2392-2394)Gct>Cct	p.A798P	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.A798P|USP8_ENST00000307179.4_Missense_Mutation_p.A798P|USP8_ENST00000425032.3_Missense_Mutation_p.A692P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	798	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCTATGTAACGCTCCACATTT	0.363																																																	0													102.0	94.0	97.0					15																	50785055		2196	4293	6489	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2392G>C	15.37:g.50785055G>C	ENSP00000379721:p.Ala798Pro		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.A798P	ENST00000396444.3	37	c.2392	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820776	0.71028	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.100292	0.64402	D	0.000001	T	0.41096	0.1144	L	0.32530	0.975	0.48901	D	0.999723	D;D	0.60160	0.987;0.968	D;D	0.69824	0.966;0.966	T	0.30179	-0.9987	10	0.87932	D	0	-10.5345	10.0308	0.42099	0.1627:0.0:0.8373:0.0	.	692;798	B4DKA8;P40818	.;UBP8_HUMAN	P	798;798;798;692;23;23	ENSP00000379721:A798P;ENSP00000405537:A798P;ENSP00000302239:A798P;ENSP00000412682:A692P	ENSP00000302239:A798P	A	+	1	0	USP8	48572347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.543000	0.60684	1.220000	0.43490	0.650000	0.86243	GCT	USP8	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000138592		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0.00	42	0	G	NM_005154		50785055	+1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	13.79	50	8	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82841391	82841391	+	Nonsense_Mutation	SNP	G	G	T	rs150952901		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:82841391G>T	ENST00000265077.3	+	9	9866	c.9301G>T	c.(9301-9303)Gga>Tga	p.G3101*	VCAN_ENST00000502527.2_Nonsense_Mutation_p.G360*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.G2114*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Nonsense_Mutation_p.G1299*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.G1347*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3101	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTGCCTTAACGGAGGCACCTG	0.463																																																	0													237.0	226.0	230.0					5																	82841391		2203	4300	6503	SO:0001587	stop_gained	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9301G>T	5.37:g.82841391G>T	ENSP00000265077:p.Gly3101*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G3101*	ENST00000265077.3	37	c.9301	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.746509	0.99693	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	X	3101;2114;1347;1299;360	.	ENSP00000265077:G3101X	G	+	1	0	VCAN	82877147	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	5.947000	0.70242	2.769000	0.95229	0.655000	0.94253	GGA	VCAN	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000038427		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	60	0	G	NM_004385		82841391	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	nonsense	36.17	30	17	SNP	1.000	T
VPS28	51160	genome.wustl.edu	37	8	145650157	145650157	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145650157T>A	ENST00000526054.1	-	6	383	c.346A>T	c.(346-348)Atc>Ttc	p.I116F	VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.I116F|VPS28_ENST00000529182.1_Missense_Mutation_p.I116F|VPS28_ENST00000292510.4_Missense_Mutation_p.I116F			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	116	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTGATGGTGATGGGCCGGTCC	0.667																																																	0													164.0	134.0	144.0					8																	145650157		2203	4300	6503	SO:0001583	missense	0			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.346A>T	8.37:g.145650157T>A	ENSP00000434064:p.Ile116Phe		Q86VK0	Missense_Mutation	SNP	pfam_VPS28,pirsf_VPS28	p.I116F	ENST00000526054.1	37	c.346	CCDS6425.1	8	.	.	.	.	.	.	.	.	.	.	t	22.3	4.273140	0.80580	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032	.	.	.	5.83	3.33	0.38152	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78828	-0.2050	9	0.49607	T	0.09	.	6.8143	0.23822	0.0:0.0804:0.152:0.7676	.	116;116	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	F	116;116;116;116;99;116	.	ENSP00000292510:I116F	I	-	1	0	VPS28	145620965	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.447000	0.44917	1.032000	0.39892	0.533000	0.62120	ATC	VPS28	-	pfam_VPS28,pirsf_VPS28	ENSG00000160948		0.667	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1		0.00	72	0	T			145650157	-1			no_errors	ENST00000377348	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.999	A
VSIG10	54621	genome.wustl.edu	37	12	118506354	118506354	+	Silent	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:118506354T>C	ENST00000359236.5	-	8	1671	c.1395A>G	c.(1393-1395)gaA>gaG	p.E465E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	465	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						cctcctcctcttcctcttcTG	0.458																																																	0													97.0	90.0	93.0					12																	118506354		2037	4183	6220	SO:0001819	synonymous_variant	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1395A>G	12.37:g.118506354T>C			Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E465	ENST00000359236.5	37	c.1395	CCDS44992.1	12																																																																																			VSIG10	-	NULL	ENSG00000176834		0.458	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2		0.00	50	0	T	NM_019086		118506354	-1			no_errors	ENST00000359236	ensembl	human	known	74_37	silent	12.07	51	7	SNP	0.942	C
VSIG4	11326	genome.wustl.edu	37	X	65244939	65244939	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:65244939T>G	ENST00000374737.4	-	6	976	c.868A>C	c.(868-870)Atc>Ctc	p.I290L	VSIG4_ENST00000455586.2_Missense_Mutation_p.I290L|VSIG4_ENST00000412866.2_Missense_Mutation_p.I196L	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	290					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGAGATGATGAGGATGATG	0.413																																																	0													120.0	86.0	98.0					X																	65244939		2203	4300	6503	SO:0001583	missense	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.868A>C	X.37:g.65244939T>G	ENSP00000363869:p.Ile290Leu		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.I290L	ENST00000374737.4	37	c.868	CCDS14383.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.31|12.31	1.900343|1.900343	0.33535|0.33535	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.36520	.|1.41;1.25;1.51	4.29|4.29	3.12|3.12	0.35913|0.35913	.|.	.|0.107310	.|0.41500	.|D	.|0.000862	T|T	0.52597|0.52597	0.1744|0.1744	M|M	0.74258|0.74258	2.255|2.255	0.23003|0.23003	N|N	0.998445|0.998445	.|P;D;P;D;D	.|0.67145	.|0.901;0.996;0.904;0.978;0.994	.|P;D;P;D;D	.|0.77557	.|0.458;0.99;0.847;0.968;0.987	T|T	0.39522|0.39522	-0.9610|-0.9610	5|10	.|0.42905	.|T	.|0.14	-13.4697|-13.4697	5.6186|5.6186	0.17446|0.17446	0.0:0.1251:0.0:0.8749|0.0:0.1251:0.0:0.8749	.|.	.|196;290;280;196;290	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	P|L	216|290;290;196	.|ENSP00000363869:I290L;ENSP00000411581:I290L;ENSP00000394143:I196L	.|ENSP00000363869:I290L	H|I	-|-	2|1	0|0	VSIG4|VSIG4	65161664|65161664	1.000000|1.000000	0.71417|0.71417	0.739000|0.739000	0.30968|0.30968	0.033000|0.033000	0.12548|0.12548	1.553000|1.553000	0.36255|0.36255	0.530000|0.530000	0.28619|0.28619	-0.314000|-0.314000	0.08810|0.08810	CAT|ATC	VSIG4	-	NULL	ENSG00000155659		0.413	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	-	0.00	22	0	T	NM_007268		65244939	-1	tier1	-	no_errors	ENST00000374737	ensembl	human	known	74_37	missense	66.67	8	16	SNP	0.841	G
WASH6P	653440	genome.wustl.edu	37	X	155253419	155253419	+	RNA	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:155253419C>T	ENST00000461007.1	+	0	2335				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)										TTTTTCATTTCAGCTTCACTG	0.473																																																	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.155253419C>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-	ENSG00000182484		0.473	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	-	0.00	10	0	C	NG_008380		155253419	+1	tier1	-	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.002	T
WDR59	79726	genome.wustl.edu	37	16	74943477	74943477	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:74943477C>T	ENST00000262144.6	-	16	1694	c.1564G>A	c.(1564-1566)Gtg>Atg	p.V522M		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	522										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCCGTGGTCACCCGCGCAAAC	0.552																																																	0													91.0	97.0	95.0					16																	74943477		2198	4300	6498	SO:0001583	missense	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1564G>A	16.37:g.74943477C>T	ENSP00000262144:p.Val522Met		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V522M	ENST00000262144.6	37	c.1564	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850878	0.71719	.	.	ENSG00000103091	ENST00000262144	T	0.68025	-0.3	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.76523	-0.2928	10	0.46703	T	0.11	-20.836	20.1581	0.98126	0.0:1.0:0.0:0.0	.	522	Q6PJI9	WDR59_HUMAN	M	522	ENSP00000262144:V522M	ENSP00000262144:V522M	V	-	1	0	WDR59	73500978	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	7.052000	0.76634	2.937000	0.99478	0.650000	0.86243	GTG	WDR59	-	NULL	ENSG00000103091		0.552	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	-	0.00	29	0	C	NM_030581		74943477	-1	tier1	-	no_errors	ENST00000262144	ensembl	human	known	74_37	missense	67.44	13	29	SNP	1.000	T
WDTC1	23038	genome.wustl.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																																	0										21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				SO:0001589	frameshift_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.860_861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding			0.00	52	0	-	NM_015023		27621108	+1	tier1		no_errors	ENST00000319394	ensembl	human	known	74_37	frame_shift_ins	9.09	50	5	INS	1.000:1.000	G
WIPF2	147179	genome.wustl.edu	37	17	38421089	38421089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:38421089C>T	ENST00000323571.4	+	5	901	c.661C>T	c.(661-663)Cga>Tga	p.R221*	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Nonsense_Mutation_p.R221*|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.R221*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	221					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCACCCTGGTCGAGAGGGACC	0.617										HNSCC(43;0.11)																																							0													141.0	125.0	130.0					17																	38421089		2203	4300	6503	SO:0001587	stop_gained	0			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.661C>T	17.37:g.38421089C>T	ENSP00000320924:p.Arg221*		A8K0L3|Q658J8|Q71RE1|Q8TE44	Nonsense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.R221*	ENST00000323571.4	37	c.661	CCDS11364.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.869245	0.97049	.	.	ENSG00000171475	ENST00000323571	.	.	.	5.69	5.69	0.88448	.	0.246445	0.32952	N	0.005457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.298	15.3874	0.74711	0.1398:0.8602:0.0:0.0	.	.	.	.	X	221	.	ENSP00000320924:R221X	R	+	1	2	WIPF2	35674615	0.921000	0.31238	0.997000	0.53966	0.983000	0.72400	1.571000	0.36450	2.698000	0.92095	0.456000	0.33151	CGA	WIPF2	-	NULL	ENSG00000171475		0.617	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2	-	0.00	109	0	C	NM_133264		38421089	+1	tier1	-	no_errors	ENST00000323571	ensembl	human	known	74_37	nonsense	29.49	110	46	SNP	0.992	T
WWC1	23286	genome.wustl.edu	37	5	167841531	167841531	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:167841531C>T	ENST00000265293.4	+	9	1622	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	WWC1_ENST00000521089.1_Missense_Mutation_p.R374W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	374					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGATGGCCCGGAAGCGGCT	0.647																																																	0													12.0	12.0	12.0					5																	167841531		2173	4248	6421	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1120C>T	5.37:g.167841531C>T	ENSP00000265293:p.Arg374Trp		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R374W	ENST00000265293.4	37	c.1120	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.514837|4.514837	0.85389|0.85389	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.06068	.|3.35;3.35	5.47|5.47	4.52|4.52	0.55395|0.55395	.|.	.|0.068019	.|0.64402	.|D	.|0.000008	T|T	0.19167|0.19167	0.0460|0.0460	M|M	0.66297|0.66297	2.02|2.02	0.45161|0.45161	D|D	0.998178|0.998178	.|D;D;D;D	.|0.71674	.|0.997;0.998;0.998;0.997	.|P;D;D;P	.|0.65323	.|0.897;0.928;0.934;0.861	T|T	0.00052|0.00052	-1.2190|-1.2190	5|10	.|0.72032	.|D	.|0.01	.|.	10.9744|10.9744	0.47456|0.47456	0.4158:0.5842:0.0:0.0|0.4158:0.5842:0.0:0.0	.|.	.|374;280;280;374	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	L|W	335;150|374	.|ENSP00000265293:R374W;ENSP00000427772:R374W	.|ENSP00000265293:R374W	P|R	+|+	2|1	0|2	WWC1|WWC1	167774109|167774109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.507000|5.507000	0.66999|0.66999	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	CCG|CGG	WWC1	-	NULL	ENSG00000113645		0.647	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	-	0.00	70	0	C	NM_015238		167841531	+1	tier1	-	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	T
WWP1	11059	genome.wustl.edu	37	8	87424060	87424060	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:87424060C>T	ENST00000517970.1	+	9	1325	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	WWP1_ENST00000265428.4_Missense_Mutation_p.R340W|WWP1_ENST00000341922.2_Missense_Mutation_p.R210W|WWP1_ENST00000349423.2_Missense_Mutation_p.R122W	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	340					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GGATCCTGTACGGCAGCAGTC	0.423																																																	0													64.0	62.0	63.0					8																	87424060		2203	4300	6503	SO:0001583	missense	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1018C>T	8.37:g.87424060C>T	ENSP00000427793:p.Arg340Trp		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R340W	ENST00000517970.1	37	c.1018	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758122	0.69648	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.48201	0.82;0.82;0.83;0.83	6.07	2.95	0.34219	WW/Rsp5/WWP (1);	1.464360	0.04355	N	0.356415	T	0.38268	0.1034	N	0.08118	0	0.41976	D	0.990773	D;D	0.58620	0.983;0.983	P;B	0.45712	0.491;0.2	T	0.24119	-1.0169	10	0.62326	D	0.03	.	13.3489	0.60591	0.66:0.34:0.0:0.0	.	122;340	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	W	340;340;210;122	ENSP00000427793:R340W;ENSP00000265428:R340W;ENSP00000340564:R210W;ENSP00000342665:R122W	ENSP00000265428:R340W	R	+	1	2	WWP1	87493176	0.818000	0.29161	0.248000	0.24265	0.967000	0.64934	1.382000	0.34374	0.823000	0.34589	0.650000	0.86243	CGG	WWP1	-	superfamily_WW_dom	ENSG00000123124		0.423	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0.00	17	0	C	NM_007013		87424060	+1			no_errors	ENST00000265428	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.725	T
YLPM1	56252	genome.wustl.edu	37	14	75248427	75248427	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:75248427C>T	ENST00000552421.1	+	4	1805	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P561S|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTGGCATGCCCCCACCTGT	0.612																																																	0													198.0	202.0	201.0					14																	75248427		2089	4195	6284	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1681C>T	14.37:g.75248427C>T	ENSP00000447921:p.Pro561Ser		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P561S	ENST00000552421.1	37	c.1681		14	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877378	0.51801	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.74107	0.3673	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.67090	-0.5758	8	0.20046	T	0.44	.	19.34	0.94337	0.0:1.0:0.0:0.0	.	561	P49750-4	.	S	561;561;274	.	ENSP00000324463:P561S	P	+	1	0	YLPM1	74318180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.444000	0.60001	2.677000	0.91161	0.591000	0.81541	CCC	YLPM1	-	NULL	ENSG00000119596		0.612	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0.00	75	0	C	NM_019589		75248427	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
YTHDF2	51441	genome.wustl.edu	37	1	29070268	29070268	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:29070268G>A	ENST00000373812.3	+	4	1848	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N	YTHDF2_ENST00000541996.1_Missense_Mutation_p.D446N|YTHDF2_ENST00000542507.1_Missense_Mutation_p.D496N|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	496	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCGTTTTGATGTCAGGTG	0.498																																																	0													85.0	83.0	84.0					1																	29070268		1916	4132	6048	SO:0001583	missense	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1486G>A	1.37:g.29070268G>A	ENSP00000362918:p.Asp496Asn		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D496N	ENST00000373812.3	37	c.1486	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465264	0.84425	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.29397	1.57;1.57;1.57	5.93	5.93	0.95920	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.39245	1.2	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.55508	0.777;0.777	T	0.02404	-1.1164	9	.	.	.	.	19.1161	0.93340	0.0:0.0:1.0:0.0	.	496;496	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	496;496;446;496	ENSP00000444660:D496N;ENSP00000362918:D496N;ENSP00000439394:D446N	.	D	+	1	0	YTHDF2	28942855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.764000	0.98949	2.816000	0.96949	0.643000	0.83706	GAT	YTHDF2	-	pfam_YTH_domain,pfscan_YTH_domain	ENSG00000198492		0.498	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	-	0.00	91	0	G	NM_016258		29070268	+1	tier1	-	no_errors	ENST00000373812	ensembl	human	known	74_37	missense	27.10	78	29	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100350067	100350067	+	RNA	SNP	C	C	T	rs221826		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350067C>T	ENST00000348028.3	+	0	2504				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.532																																																	0													180.0	202.0	195.0					7																	100350067		1844	4079	5923			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350067C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P780L	ENST00000348028.3	37	c.2339		7	.	.	.	.	.	.	.	.	.	.	c	10.66	1.411744	0.25465	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.68479	-0.33;0.07;-0.33	4.58	1.78	0.24846	.	.	.	.	.	T	0.57330	0.2046	L	0.57536	1.79	0.18873	N	0.999989	B;B	0.14805	0.011;0.006	B;B	0.12156	0.007;0.003	T	0.49707	-0.8911	9	0.42905	T	0.14	.	4.4473	0.11604	0.1549:0.6054:0.0:0.2397	rs221826	780;780	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	780	ENSP00000445943:P780L;ENSP00000445091:P780L;ENSP00000444427:P780L	ENSP00000423579:P780L	P	+	2	0	ZAN	100188003	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.288000	0.18939	0.239000	0.21243	0.650000	0.86243	CCC	ZAN	-	NULL	ENSG00000146839		0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0.00	232	0	C	NM_003386		100350067	+1	tier1	rs221826	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	12.83	163	24	SNP	0.000	T
ZAN	7455	genome.wustl.edu	37	7	100350074	100350074	+	RNA	SNP	C	C	T	rs370655016		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350074C>T	ENST00000348028.3	+	0	2511				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.527																																																	0								C	,	0,3692		0,0,1846	186.0	209.0	202.0		2346,2346	0.5	0.0	7		202	2,8162		0,2,4080	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,2,5926	TT,TC,CC		0.0245,0.0,0.0169	,	782/2813,782/2722	100350074	2,11854	1846	4082	5928			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350074C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.I782	ENST00000348028.3	37	c.2346		7																																																																																			ZAN	-	NULL	ENSG00000146839		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0.00	234	0	C	NM_003386		100350074	+1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	silent	20.11	143	36	SNP	0.000	T
ZAN	7455	genome.wustl.edu	37	7	100350096	100350096	+	RNA	SNP	C	C	T	rs199814972		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350096C>T	ENST00000348028.3	+	0	2533				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATTCCCACAGAAAA	0.527																																																	0													202.0	230.0	221.0					7																	100350096		1872	4092	5964			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350096C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P790S	ENST00000348028.3	37	c.2368		7	.	.	.	.	.	.	.	.	.	.	c	8.792	0.930917	0.18131	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.74315	-0.83;-0.07;-0.83	4.34	3.44	0.39384	.	.	.	.	.	T	0.57359	0.2048	N	0.25094	0.71	0.09310	N	0.999996	P;P	0.43938	0.822;0.728	B;B	0.38225	0.268;0.138	T	0.49753	-0.8906	9	0.52906	T	0.07	.	6.7111	0.23278	0.0:0.7163:0.1833:0.1005	.	790;790	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	790	ENSP00000445943:P790S;ENSP00000445091:P790S;ENSP00000444427:P790S	ENSP00000423579:P790S	P	+	1	0	ZAN	100188032	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-3.096000	0.00606	1.090000	0.41315	0.650000	0.86243	CCC	ZAN	-	NULL	ENSG00000146839		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0.00	230	0	C	NM_003386		100350096	+1	tier1	rs199814972	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	9.04	171	17	SNP	0.003	T
ZBTB7B	51043	genome.wustl.edu	37	1	154988714	154988714	+	Frame_Shift_Del	DEL	C	C	-	rs138318069		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:154988714delC	ENST00000368426.3	+	4	1310	c.1173delC	c.(1171-1173)atcfs	p.I391fs	ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.I391fs|ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.I391fs|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.I425fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	391					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTGAAGATCCACATGCGGA	0.627																																																	0													88.0	79.0	82.0					1																	154988714		2203	4300	6503	SO:0001589	frameshift_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1173delC	1.37:g.154988714delC	ENSP00000357411:p.Ile391fs		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H426fs	ENST00000368426.3	37	c.1275	CCDS1081.1	1																																																																																			ZBTB7B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160685		0.627	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0.00	22	0	C	NM_015872		154988714	+1	tier1		no_errors	ENST00000417934	ensembl	human	known	74_37	frame_shift_del	25.81	23	8	DEL	1.000	-
ZDHHC11	79844	genome.wustl.edu	37	5	711036	711037	+	Intron	INS	-	-	GA			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:711036_711037insGA	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'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)			CCCAATGCTATGCTCCCATTTC	0.505																																																	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.1237-37->TC	5.37:g.711036_711037insGA			Q6UWR9	RNA	INS	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.505	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding			0.00	52	0	-	NM_024786		711037	-1	tier1		no_errors	ENST00000522356	ensembl	human	known	74_37	rna	22.73	17	5	INS	0.000:0.006	GA
ZDHHC11	79844	genome.wustl.edu	37	5	712139	712139	+	Intron	SNP	T	T	A	rs111351502	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:712139T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000508859.2_3'UTR|ZDHHC11B_ENST00000522356.1_5'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	29	0	T	NM_024786		712139	-1	tier1	rs111351502	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	20.00	8	2	SNP	0.000	A
ZFP90	146198	genome.wustl.edu	37	16	68598300	68598300	+	Missense_Mutation	SNP	G	G	T	rs369659817	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:68598300G>T	ENST00000570495.1	+	5	1902	c.1610G>T	c.(1609-1611)cGc>cTc	p.R537L	ZFP90_ENST00000563169.2_Missense_Mutation_p.R537L|ZFP90_ENST00000398253.2_Missense_Mutation_p.R537L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	537					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTTAGTCGACGCTCATCGCTT	0.413																																																	0													62.0	70.0	67.0					16																	68598300		2196	4300	6496	SO:0001583	missense	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1610G>T	16.37:g.68598300G>T	ENSP00000460547:p.Arg537Leu		B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.R537L	ENST00000570495.1	37	c.1610	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270150	0.23221	.	.	ENSG00000184939	ENST00000398253	T	0.08282	3.11	5.95	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25031	0.7	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41734	-0.9492	9	0.26408	T	0.33	-2.6836	3.4768	0.07587	0.0814:0.1521:0.4523:0.3141	.	537	Q8TF47	ZFP90_HUMAN	L	537	ENSP00000381304:R537L	ENSP00000381304:R537L	R	+	2	0	ZFP90	67155801	0.000000	0.05858	0.998000	0.56505	0.928000	0.56348	0.040000	0.13905	0.758000	0.33059	0.561000	0.74099	CGC	ZFP90	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184939		0.413	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	-	0.00	57	0	G	XM_085375		68598300	+1	tier1	-	no_errors	ENST00000398253	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.001	T
ZFPM2	23414	genome.wustl.edu	37	8	106573669	106573669	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:106573669G>T	ENST00000407775.2	+	4	630	c.380G>T	c.(379-381)gGg>gTg	p.G127V	ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	127					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAACCTGGGGGCCGTTTCCT	0.433																																																	0													55.0	56.0	56.0					8																	106573669		1843	4083	5926	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.380G>T	8.37:g.106573669G>T	ENSP00000384179:p.Gly127Val		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G127V	ENST00000407775.2	37	c.380	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710655	0.89112	.	.	ENSG00000169946	ENST00000407775	T	0.57907	0.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71196	-0.4664	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	127	Q8WW38	FOG2_HUMAN	V	127	ENSP00000384179:G127V	ENSP00000384179:G127V	G	+	2	0	ZFPM2	106642845	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	8.397000	0.90193	2.813000	0.96785	0.655000	0.94253	GGG	ZFPM2	-	NULL	ENSG00000169946		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	70	0	G			106573669	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T
ZFR	51663	genome.wustl.edu	37	5	32355671	32355672	+	3'UTR	INS	-	-	T	rs377173878		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:32355671_32355672insT	ENST00000265069.8	-	0	3521_3522				ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein						multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GTCGGAGCACATTTTTTTTTTT	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.*195->A	5.37:g.32355682_32355682dupT			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	RNA	INS	-	NULL	ENST00000265069.8	37	NULL	CCDS34139.1	5																																																																																			ZFR	-	-	ENSG00000056097		0.327	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0.00	58	0	-			32355672	-1	tier1		no_errors	ENST00000510369	ensembl	human	known	74_37	rna	11.11	24	3	INS	0.530:0.003	T
ZMYND11	10771	genome.wustl.edu	37	10	286020	286020	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:286020C>T	ENST00000397962.3	+	8	1150	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ZMYND11_ENST00000381604.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000381591.1_Missense_Mutation_p.A241V|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A240V|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A156V|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A241V|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A156V|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A147V|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A187V|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A147V|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A224V|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A210V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	241					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A201V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTGACATTGCGAGGATGCTA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											110.0	117.0	115.0					10																	286020		2203	4300	6503	SO:0001583	missense	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.722C>T	10.37:g.286020C>T	ENSP00000381053:p.Ala241Val		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A241V	ENST00000397962.3	37	c.722	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	C	31	5.093592	0.94149	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.73962	2.25	0.43342	D	0.995399	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;P;P;D	0.79784	0.987;0.993;0.984;0.954;0.989;0.936;0.906;0.906;0.954	T	0.67616	-0.5625	9	0.59425	D	0.04	-19.1681	17.7538	0.88442	0.0:1.0:0.0:0.0	.	241;156;186;241;187;170;187;187;210	Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.;.;.	V	241;201;201;241;156;241;187;147;210;201;224;147	ENSP00000381053:A241V;ENSP00000309992:A201V;ENSP00000371015:A201V;ENSP00000381050:A156V;ENSP00000371003:A241V;ENSP00000385484:A187V;ENSP00000371020:A147V;ENSP00000386010:A210V;ENSP00000371017:A201V;ENSP00000370996:A224V;ENSP00000438461:A147V	ENSP00000309992:A201V	A	+	2	0	ZMYND11	276020	1.000000	0.71417	0.804000	0.32291	0.863000	0.49368	5.556000	0.67307	2.618000	0.88619	0.563000	0.77884	GCG	ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain	ENSG00000015171		0.328	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4		0.00	37	0	C	NM_006624		286020	+1			no_errors	ENST00000381591	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.999	T
ZNF214	7761	genome.wustl.edu	37	11	7021536	7021536	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:7021536G>T	ENST00000278314.4	-	3	1693	c.1378C>A	c.(1378-1380)Cat>Aat	p.H460N	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.H460N	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	460					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACTCTCTGATGAATGCGAAGA	0.418																																					Ovarian(22;251 657 736 21522 46864)												0													116.0	119.0	118.0					11																	7021536		2201	4294	6495	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1378C>A	11.37:g.7021536G>T	ENSP00000278314:p.His460Asn		B2R8Q1	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.H460N	ENST00000278314.4	37	c.1378	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923172	0.73213	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	D;D	0.86865	-2.18;-2.18	4.05	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000506	D	0.95329	0.8484	H	0.96048	3.76	0.38368	D	0.944794	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	10	0.87932	D	0	.	14.5016	0.67724	0.0:0.0:1.0:0.0	.	460	Q9UL59	ZN214_HUMAN	N	460	ENSP00000278314:H460N;ENSP00000445373:H460N	ENSP00000278314:H460N	H	-	1	0	ZNF214	6978112	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.224000	0.95209	2.536000	0.85505	0.561000	0.74099	CAT	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.418	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	-	0.00	67	0	G			7021536	-1	tier1	-	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
ZNF285	26974	genome.wustl.edu	37	19	44891312	44891312	+	Silent	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:44891312T>C	ENST00000330997.4	-	4	1159	c.1095A>G	c.(1093-1095)gtA>gtG	p.V365V	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.V372V|ZNF285_ENST00000544719.2_Silent_p.V365V	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	365					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCTGTGTGTACTCCCTGAT	0.473																																																	0													71.0	73.0	72.0					19																	44891312		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1095A>G	19.37:g.44891312T>C			Q17RJ3|Q6B0A8|Q6ISR5	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.V365	ENST00000330997.4	37	c.1095	CCDS12638.1	19																																																																																			ZNF285	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0.00	101	0	T	NM_152354		44891312	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	silent	28.68	92	37	SNP	0.017	C
ZNF285	26974	genome.wustl.edu	37	19	44892266	44892266	+	Splice_Site	SNP	T	T	C	rs200167944		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																																	0													50.0	54.0	53.0					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C			Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	-	e3-2	ENST00000330997.4	37	c.143-2	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	ZNF285	-	-	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0.00	15	0	T	NM_152354	Intron	44892266	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	0.017	C
ZNF324	25799	genome.wustl.edu	37	19	58982373	58982373	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:58982373G>A	ENST00000536459.2	+	4	1223	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	ZNF324_ENST00000196482.3_Missense_Mutation_p.V172I|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	172					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCCGAGGGCGTCCGGCTTAG	0.642																																																	0													49.0	50.0	49.0					19																	58982373		2203	4300	6503	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.514G>A	19.37:g.58982373G>A	ENSP00000444812:p.Val172Ile		B3KRX1	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.V172I	ENST00000536459.2	37	c.514	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637814	0.14386	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05319	3.46;3.46	3.15	-5.92	0.02261	.	1.698790	0.03290	N	0.187398	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999993	B	0.14438	0.01	B	0.04013	0.001	T	0.44003	-0.9356	10	0.59425	D	0.04	.	6.6537	0.22977	0.3851:0.1233:0.4915:0.0	.	172	O75467	Z324A_HUMAN	I	172;172;172;162	ENSP00000196482:V172I;ENSP00000444812:V172I	ENSP00000196482:V172I	V	+	1	0	ZNF324	63674185	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.476000	0.02333	-1.240000	0.02529	0.455000	0.32223	GTC	ZNF324	-	NULL	ENSG00000083812		0.642	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1		0.00	48	0	G	NM_014347		58982373	+1			no_errors	ENST00000196482	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A
ZNF469	84627	genome.wustl.edu	37	16	88501417	88501417	+	Silent	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:88501417G>A	ENST00000437464.1	+	2	7455	c.7455G>A	c.(7453-7455)caG>caA	p.Q2485Q	ZNF469_ENST00000565624.1_Silent_p.Q2513Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2485					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TGCCTGCTCAGCAGCCTCTAG	0.687																																																	0													16.0	20.0	18.0					16																	88501417		690	1588	2278	SO:0001819	synonymous_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.7455G>A	16.37:g.88501417G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q2485	ENST00000437464.1	37	c.7455	CCDS45544.1	16																																																																																			ZNF469	-	NULL	ENSG00000225614		0.687	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	83	0	G	NG_012236		88501417	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	A
ZNF536	9745	genome.wustl.edu	37	19	30935725	30935725	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:30935725C>A	ENST00000355537.3	+	2	1403	c.1256C>A	c.(1255-1257)tCc>tAc	p.S419Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	419					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGGCATGTCCCAGGAGGCC	0.627																																																	0													39.0	40.0	39.0					19																	30935725		2203	4299	6502	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1256C>A	19.37:g.30935725C>A	ENSP00000347730:p.Ser419Tyr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S419Y	ENST00000355537.3	37	c.1256	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916501	0.33815	.	.	ENSG00000198597	ENST00000355537	T	0.08807	3.05	5.44	5.44	0.79542	.	0.227212	0.46442	D	0.000292	T	0.11239	0.0274	L	0.29908	0.895	0.48135	D	0.999597	P;P	0.44195	0.828;0.828	B;B	0.44085	0.44;0.44	T	0.02546	-1.1143	10	0.59425	D	0.04	-11.2491	19.25	0.93921	0.0:1.0:0.0:0.0	.	419;419	A7E228;O15090	.;ZN536_HUMAN	Y	419	ENSP00000347730:S419Y	ENSP00000347730:S419Y	S	+	2	0	ZNF536	35627565	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	7.457000	0.80775	2.535000	0.85469	0.591000	0.81541	TCC	ZNF536	-	NULL	ENSG00000198597		0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0.00	41	0	C	NM_014717		30935725	+1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	5.95	253	16	SNP	1.000	A
ZNF702P	79986	genome.wustl.edu	37	19	53472438	53472438	+	RNA	SNP	T	T	C			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:53472438T>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AATCATCACATTTGTAAGGTT	0.378																																																	0																																												0																															19.37:g.53472438T>C				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-	ENSG00000242779		0.378	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	-	0.00	38	0	T			53472438	-1	tier1	-	no_errors	ENST00000270443	ensembl	human	known	74_37	rna	12.50	35	5	SNP	0.766	C
ZNF702P	79986	genome.wustl.edu	37	19	53473813	53473813	+	RNA	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:53473813G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							ATGAAAGCTTGATCCAAGCTG	0.383																																																	0																																												0																															19.37:g.53473813G>A				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-	ENSG00000242779		0.383	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	-	0.00	83	0	G			53473813	-1	tier1	-	no_errors	ENST00000270443	ensembl	human	known	74_37	rna	6.93	94	7	SNP	0.000	A
ZNF710	374655	genome.wustl.edu	37	15	90610668	90610668	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:90610668G>A	ENST00000268154.4	+	2	550	c.299G>A	c.(298-300)cGg>cAg	p.R100Q		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	100					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CGGAAGACGCGGCCACCTGTG	0.637																																																	0													62.0	58.0	59.0					15																	90610668		2199	4297	6496	SO:0001583	missense	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.299G>A	15.37:g.90610668G>A	ENSP00000268154:p.Arg100Gln		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R100Q	ENST00000268154.4	37	c.299	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040514	0.75732	.	.	ENSG00000140548	ENST00000268154	T	0.14391	2.51	5.13	5.13	0.70059	.	2.268360	0.02093	N	0.053272	T	0.14056	0.0340	N	0.19112	0.55	0.40772	D	0.983099	B	0.30439	0.279	B	0.17979	0.02	T	0.22173	-1.0224	10	0.51188	T	0.08	-27.348	17.33	0.87259	0.0:0.0:1.0:0.0	.	100	Q8N1W2	ZN710_HUMAN	Q	100	ENSP00000268154:R100Q	ENSP00000268154:R100Q	R	+	2	0	ZNF710	88411672	0.995000	0.38212	0.982000	0.44146	0.913000	0.54294	3.092000	0.50207	2.681000	0.91329	0.462000	0.41574	CGG	ZNF710	-	NULL	ENSG00000140548		0.637	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	-	0.00	137	0	G	NM_198526		90610668	+1	tier1	-	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	35.00	130	70	SNP	0.992	A
ZNF789	285989	genome.wustl.edu	37	7	99084263	99084263	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:99084263C>T	ENST00000331410.5	+	5	700	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	144					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTTACTTTCCCTACTAGTGG	0.403																																																	0													95.0	95.0	95.0					7																	99084263		2203	4300	6503	SO:0001583	missense	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.430C>T	7.37:g.99084263C>T	ENSP00000331927:p.Pro144Ser		A4D282|A6NH61|Q6ZMZ9	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.P144S	ENST00000331410.5	37	c.430	CCDS34693.1	7	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725560	0.15439	.	.	ENSG00000198556	ENST00000331410	T	0.04654	3.58	2.56	1.67	0.24075	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.39981	-0.9587	9	0.45353	T	0.12	.	5.4287	0.16440	0.0:0.8409:0.0:0.1591	.	144	Q5FWF6	ZN789_HUMAN	S	144	ENSP00000331927:P144S	ENSP00000331927:P144S	P	+	1	0	ZNF789	98922199	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	0.130000	0.15850	0.656000	0.30886	0.650000	0.86243	CCT	ZNF789	-	NULL	ENSG00000198556		0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1	-	0.00	43	0	C	NM_213603		99084263	+1	tier1	-	no_errors	ENST00000331410	ensembl	human	known	74_37	missense	51.92	25	27	SNP	0.001	T
ZRANB1	54764	genome.wustl.edu	37	10	126672121	126672121	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:126672121C>T	ENST00000359653.4	+	8	2143	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	591	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A591V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTTTGGTTGCCATGGAAAAT	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											162.0	142.0	149.0					10																	126672121		2203	4300	6503	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1772C>T	10.37:g.126672121C>T	ENSP00000352676:p.Ala591Val		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.A591V	ENST00000359653.4	37	c.1772	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644021	0.87859	.	.	ENSG00000019995	ENST00000359653	T	0.17854	2.25	5.5	5.5	0.81552	Ovarian tumour, otubain (1);	0.049616	0.85682	D	0.000000	T	0.13841	0.0335	L	0.31926	0.97	0.80722	D	1	P	0.45768	0.866	B	0.32022	0.139	T	0.03103	-1.1072	10	0.56958	D	0.05	-18.2126	19.5944	0.95530	0.0:1.0:0.0:0.0	.	591	Q9UGI0	ZRAN1_HUMAN	V	591	ENSP00000352676:A591V	ENSP00000352676:A591V	A	+	2	0	ZRANB1	126662111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.868000	0.98415	0.555000	0.69702	GCC	ZRANB1	-	pfscan_OTU	ENSG00000019995		0.463	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	-	0.00	55	0	C	NM_017580		126672121	+1	tier1	-	no_errors	ENST00000359653	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
