#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
AAMP	14	genome.wustl.edu	37	2	219131708	219131708	+	Splice_Site	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:219131708G>T	ENST00000248450.4	-	4	566	c.396C>A	c.(394-396)ggC>ggA	p.G132G	AAMP_ENST00000420660.1_Splice_Site_p.G113G|AAMP_ENST00000444053.1_Splice_Site_p.G133G			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	132					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTTTATGGCCTTCAAAGA	0.507																																																	0													64.0	68.0	66.0					2																	219131708		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.395-1C>A	2.37:g.219131708G>T			Q8WUJ9|Q96H92	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G132	ENST00000248450.4	37	c.396	CCDS33378.1	2																																																																																			AAMP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127837		0.507	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	-	0.00	39	0	G	NM_001087	Silent	219131708	-1	tier1	-	no_errors	ENST00000248450	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.995	T
ACTRT2	140625	genome.wustl.edu	37	1	2938279	2938279	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:2938279C>A	ENST00000378404.2	+	1	234	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	10						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTAGACTCCCCGGCTGTGATT	0.562																																																	0													52.0	59.0	57.0					1																	2938279		2203	4300	6503	SO:0001583	missense	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.29C>A	1.37:g.2938279C>A	ENSP00000367658:p.Pro10Gln		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P10Q	ENST00000378404.2	37	c.29	CCDS45.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847808	0.51164	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97209	-4.29	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000033	D	0.97558	0.9200	L	0.42581	1.335	0.48288	D	0.999626	D	0.89917	1.0	D	0.83275	0.996	D	0.98794	1.0737	10	0.87932	D	0	.	16.9328	0.86195	0.0:1.0:0.0:0.0	.	10	Q8TDY3	ACTT2_HUMAN	Q	10	ENSP00000367658:P10Q	ENSP00000367658:P10Q	P	+	2	0	ACTRT2	2928139	0.979000	0.34478	0.056000	0.19401	0.006000	0.05464	3.226000	0.51254	2.331000	0.79229	0.561000	0.74099	CCG	ACTRT2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169717		0.562	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	HGNC	protein_coding	OTTHUMT00000001331.1		0.00	46	0	C	NM_080431		2938279	+1			no_errors	ENST00000378404	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.825	A
ADAM22	53616	genome.wustl.edu	37	7	87811331	87811331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:87811331delT	ENST00000265727.7	+	29	2647	c.2568delT	c.(2566-2568)aatfs	p.N856fs	ADAM22_ENST00000476330.1_3'UTR|ADAM22_ENST00000398209.3_Frame_Shift_Del_p.N820fs|ADAM22_ENST00000398201.4_Frame_Shift_Del_p.N856fs|ADAM22_ENST00000398204.4_Frame_Shift_Del_p.N820fs|ADAM22_ENST00000315984.7_Frame_Shift_Del_p.N820fs			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	856					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CTCGGTCTAATTCAACTGAGT	0.373																																																	0													77.0	79.0	78.0					7																	87811331		1828	4075	5903	SO:0001589	frameshift_variant	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2568delT	7.37:g.87811331delT	ENSP00000265727:p.Asn856fs		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S857fs	ENST00000265727.7	37	c.2568	CCDS47637.1	7																																																																																			ADAM22	-	NULL	ENSG00000008277		0.373	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2		0.00	28	0	T	NM_021723		87811331	+1	tier1		no_errors	ENST00000265727	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-
ADAMTS13	11093	genome.wustl.edu	37	9	136307831	136307831	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:136307831C>G	ENST00000371929.3	+	18	2645	c.2201C>G	c.(2200-2202)cCa>cGa	p.P734R	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P703R|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P734R|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	734					cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGCGTGGCCAGAGGCCTGC	0.662																																																	0													40.0	45.0	43.0					9																	136307831		2203	4300	6503	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2201C>G	9.37:g.136307831C>G	ENSP00000360997:p.Pro734Arg		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P734R	ENST00000371929.3	37	c.2201	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005749	0.35415	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.59638	0.25;0.25;0.25	5.48	-2.19	0.07015	.	.	.	.	.	T	0.39091	0.1065	L	0.31578	0.945	0.09310	N	1	P;P;P	0.36086	0.536;0.529;0.529	B;B;B	0.39217	0.154;0.294;0.294	T	0.32481	-0.9905	9	0.10902	T	0.67	.	7.1579	0.25647	0.6353:0.2102:0.0:0.1546	.	734;703;734	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	R	734;734;703	ENSP00000360997:P734R;ENSP00000347927:P734R;ENSP00000348997:P703R	ENSP00000347927:P734R	P	+	2	0	ADAMTS13	135297652	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.049000	0.11924	-0.236000	0.09753	0.655000	0.94253	CCA	ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.662	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0.00	45	0	C	NM_139025		136307831	+1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.000	G
ADAMTS19	171019	genome.wustl.edu	37	5	129072769	129072769	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:129072769C>G	ENST00000274487.4	+	23	3627	c.3482C>G	c.(3481-3483)aCt>aGt	p.T1161S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1161	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTGCTCTGACTTTCAAGTGC	0.458																																																	0													125.0	118.0	121.0					5																	129072769		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3482C>G	5.37:g.129072769C>G	ENSP00000274487:p.Thr1161Ser			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T1161S	ENST00000274487.4	37	c.3482	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666354	0.67814	.	.	ENSG00000145808	ENST00000274487	T	0.63913	-0.07	4.12	4.12	0.48240	PLAC (1);	0.187167	0.35970	N	0.002874	T	0.64864	0.2637	N	0.19112	0.55	0.53688	D	0.99997	D	0.76494	0.999	D	0.66196	0.942	T	0.63677	-0.6583	9	.	.	.	.	17.6813	0.88243	0.0:1.0:0.0:0.0	.	1161	Q8TE59	ATS19_HUMAN	S	1161	ENSP00000274487:T1161S	.	T	+	2	0	ADAMTS19	129100668	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.895000	0.75660	2.599000	0.87857	0.650000	0.86243	ACT	ADAMTS19	-	pfscan_PLAC	ENSG00000145808		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	56	0	C	NM_133638		129072769	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	61.11	13	22	SNP	1.000	G
ADCYAP1R1	117	genome.wustl.edu	37	7	31123825	31123825	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:31123825C>T	ENST00000304166.4	+	7	687	c.398C>T	c.(397-399)gCc>gTc	p.A133V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.A112V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.A133V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.A133V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	133	Important for ligand binding and specificity.				activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACTTTGATGCCTGTGGGTTT	0.547																																					Ovarian(44;225 1186 2158 11092)												0													178.0	170.0	173.0					7																	31123825		2203	4300	6503	SO:0001583	missense	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.398C>T	7.37:g.31123825C>T	ENSP00000306620:p.Ala133Val		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.A133V	ENST00000304166.4	37	c.398	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863338	0.32884	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.66280	0.46;-0.2;0.46;0.46	5.66	4.78	0.61160	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	L	0.50333	1.59	0.53688	D	0.999977	B;P;P;B;B	0.48589	0.08;0.912;0.678;0.304;0.091	B;P;B;B;B	0.51297	0.1;0.665;0.437;0.094;0.259	T	0.65594	-0.6130	10	0.45353	T	0.12	.	12.3705	0.55252	0.0:0.9185:0.0:0.0815	.	133;133;133;112;133	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	133;112;133;133	ENSP00000306620:A133V;ENSP00000387335:A112V;ENSP00000379514:A133V;ENSP00000386395:A133V	ENSP00000306620:A133V	A	+	2	0	ADCYAP1R1	31090350	0.978000	0.34361	0.531000	0.27976	0.311000	0.27955	2.310000	0.43708	1.386000	0.46466	-0.259000	0.10710	GCC	ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000078549		0.547	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	-	0.00	57	0	C	NM_001118		31123825	+1	tier1	-	no_errors	ENST00000304166	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.940	T
AKAP12	9590	genome.wustl.edu	37	6	151673526	151673527	+	Frame_Shift_Del	DEL	GA	GA	-	rs374754660		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:151673526_151673527delGA	ENST00000253332.1	+	3	4189_4190	c.4000_4001delGA	c.(4000-4002)gagfs	p.E1334fs	AKAP12_ENST00000359755.5_Frame_Shift_Del_p.E1229fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.E1334fs|AKAP12_ENST00000354675.6_Frame_Shift_Del_p.E1236fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1334					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATCCCCCGTGGAGAGAGAGATG	0.47																																					Melanoma(141;1616 1805 10049 24534 51979)												0																																										SO:0001589	frameshift_variant	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4000_4001delGA	6.37:g.151673534_151673535delGA	ENSP00000253332:p.Glu1334fs		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E1336fs	ENST00000253332.1	37	c.4000_4001	CCDS5229.1	6																																																																																			AKAP12	-	NULL	ENSG00000131016		0.470	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1		0.00	42	0	GA			151673527	+1	tier1		no_errors	ENST00000253332	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.002:0.006	-
AKNA	80709	genome.wustl.edu	37	9	117106109	117106109	+	Intron	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:117106109G>T	ENST00000307564.4	-	19	3823				AKNA_ENST00000374075.5_Intron|AKNA_ENST00000374088.3_Intron|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374079.4_Intron|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGAACTGTCAGTATCAGCCCT	0.498																																																	0													56.0	55.0	55.0					9																	117106109		2203	4300	6503	SO:0001627	intron_variant	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3662-26C>A	9.37:g.117106109G>T			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	RNA	SNP	-	NULL	ENST00000307564.4	37	NULL	CCDS6805.1	9																																																																																			AKNA	-	-	ENSG00000106948		0.498	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0.00	52	0	G	NM_030767		117106109	-1	tier1	-	no_errors	ENST00000492875	ensembl	human	known	74_37	rna	6.06	61	4	SNP	0.000	T
ALG1L	200810	genome.wustl.edu	37	3	125648300	125648300	+	Silent	SNP	G	G	C	rs113713770	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:125648300G>C	ENST00000340333.3	-	6	622	c.459C>G	c.(457-459)ctC>ctG	p.L153L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	153							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TAACCAAAGGGAGCACAGTCT	0.567													.|||	3	0.000599042	0.0023	0.0	5008	,	,		16032	0.0		0.0	False		,,,				2504	0.0																0								G	,	3,2731		0,3,1364	39.0	52.0	47.0		459,519	-4.6	0.1	3	dbSNP_132	47	0,4644		0,0,2322	no	coding-synonymous,coding-synonymous	ALG1L	NM_001015050.2,NM_001195223.1	,	0,3,3686	CC,CG,GG		0.0,0.1097,0.0407	,	153/188,173/208	125648300	3,7375	1367	2322	3689	SO:0001819	synonymous_variant	0			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.459C>G	3.37:g.125648300G>C			D3DNA5	Silent	SNP	NULL	p.L153	ENST00000340333.3	37	c.459	CCDS33840.1	3																																																																																			ALG1L	-	NULL	ENSG00000189366		0.567	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1L	HGNC	protein_coding	OTTHUMT00000356347.1	-	0.00	235	0	G	NM_001015050		125648300	-1	tier1	rs113713770	no_errors	ENST00000340333	ensembl	human	known	74_37	silent	23.72	209	65	SNP	0.991	C
ALPK2	115701	genome.wustl.edu	37	18	56149266	56149266	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:56149266T>C	ENST00000361673.3	-	13	6515	c.6302A>G	c.(6301-6303)aAg>aGg	p.K2101R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2101	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTAAATCCCTTGTACCTGTG	0.373																																																	0													139.0	127.0	131.0					18																	56149266		2203	4300	6503	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6302A>G	18.37:g.56149266T>C	ENSP00000354991:p.Lys2101Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.K2101R	ENST00000361673.3	37	c.6302	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686980	0.88639	.	.	ENSG00000198796	ENST00000361673	T	0.14391	2.51	5.92	4.77	0.60923	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.065534	0.64402	D	0.000013	T	0.25419	0.0618	L	0.35414	1.06	0.49687	D	0.999818	D	0.71674	0.998	D	0.81914	0.995	T	0.01130	-1.1442	10	0.66056	D	0.02	-21.0483	11.7009	0.51571	0.0:0.0695:0.0:0.9305	.	2101	Q86TB3	ALPK2_HUMAN	R	2101	ENSP00000354991:K2101R	ENSP00000354991:K2101R	K	-	2	0	ALPK2	54300246	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.911000	0.69939	1.075000	0.40932	0.459000	0.35465	AAG	ALPK2	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000198796		0.373	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0.00	73	0	T	NM_052947		56149266	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	C
AMBRA1	55626	genome.wustl.edu	37	11	46419421	46419421	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:46419421C>T	ENST00000458649.2	-	18	3894	c.3476G>A	c.(3475-3477)gGc>gAc	p.G1159D	AMBRA1_ENST00000533727.1_Missense_Mutation_p.G1040D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G1130D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G1099D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G1099D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G1069D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G1130D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1159					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGCTGTCATGCCGCCCTCCGC	0.607																																																	0													57.0	45.0	49.0					11																	46419421		2202	4299	6501	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3476G>A	11.37:g.46419421C>T	ENSP00000415327:p.Gly1159Asp		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1159D	ENST00000458649.2	37	c.3476		11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859908	0.91433	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	D;D;D;D;D;D;D	0.85258	-1.91;-1.96;-1.67;-1.79;-1.67;-1.78;-1.79	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0;0.999	D	0.90213	0.4266	10	0.87932	D	0	.	18.8445	0.92200	0.0:1.0:0.0:0.0	.	1159;1130;1099;1040;1162;1069	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	1069;1040;1099;1130;1099;1159;117;1130	ENSP00000318313:G1069D;ENSP00000433372:G1040D;ENSP00000431926:G1099D;ENSP00000410899:G1130D;ENSP00000298834:G1099D;ENSP00000415327:G1159D;ENSP00000433945:G1130D	ENSP00000298834:G1099D	G	-	2	0	AMBRA1	46375997	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.264000	0.78432	2.679000	0.91253	0.655000	0.94253	GGC	AMBRA1	-	NULL	ENSG00000110497		0.607	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1		0.00	45	0	C	NM_017749		46419421	-1			no_errors	ENST00000458649	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T
ANO1	55107	genome.wustl.edu	37	11	69957845	69957845	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:69957845G>T	ENST00000355303.5	+	7	1137	c.832G>T	c.(832-834)Gcg>Tcg	p.A278S	ANO1_ENST00000531349.1_Missense_Mutation_p.A13S|ANO1_ENST00000538023.1_Missense_Mutation_p.A278S|ANO1_ENST00000530676.1_Missense_Mutation_p.A162S|ANO1_ENST00000398543.2_Missense_Mutation_p.A162S|ANO1_ENST00000316296.5_Missense_Mutation_p.A250S	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	278					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A278P(2)|p.A278T(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGGTGTGTACGCGGCTGCATA	0.562																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											157.0	165.0	162.0					11																	69957845		2023	4186	6209	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.832G>T	11.37:g.69957845G>T	ENSP00000347454:p.Ala278Ser		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.A278S	ENST00000355303.5	37	c.832	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	2.207	-0.381634	0.04966	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.08	5.26	1.32	0.21799	.	0.525055	0.18489	N	0.139684	T	0.24122	0.0584	N	0.01109	-1.01	0.23823	N	0.996749	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.15484	0.0;0.013;0.001	T	0.21314	-1.0249	9	.	.	.	.	4.2864	0.10857	0.3477:0.0:0.2556:0.3967	.	13;250;278	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	S	278;278;162;62;245;250;162;13	ENSP00000347454:A278S;ENSP00000444689:A278S;ENSP00000381551:A162S;ENSP00000436392:A245S;ENSP00000319477:A250S;ENSP00000435797:A162S;ENSP00000432843:A13S	.	A	+	1	0	ANO1	69635493	1.000000	0.71417	0.994000	0.49952	0.394000	0.30568	3.206000	0.51098	0.305000	0.22832	-0.521000	0.04368	GCG	ANO1	-	NULL	ENSG00000131620		0.562	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1		0.00	47	0	G	NM_018043		69957845	+1			no_errors	ENST00000355303	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.957	T
APBB2	323	genome.wustl.edu	37	4	40895373	40895373	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:40895373G>A	ENST00000295974.8	-	11	1936	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	APBB2_ENST00000506352.1_Missense_Mutation_p.P415L|APBB2_ENST00000508593.1_Missense_Mutation_p.P437L|APBB2_ENST00000513140.1_Missense_Mutation_p.P415L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	436	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACTTTTACCGGGGGCGAGGTC	0.507																																					Ovarian(3;20 75 16686 49997)												0													192.0	199.0	197.0					4																	40895373		1990	4166	6156	SO:0001583	missense	0			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1307C>T	4.37:g.40895373G>A	ENSP00000295974:p.Pro436Leu		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.P436L	ENST00000295974.8	37	c.1307	CCDS54761.1	4	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271430	0.59649	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.5	4.66	0.58398	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.053096	0.85682	N	0.000000	T	0.48732	0.1516	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	T	0.55276	-0.8166	10	0.87932	D	0	-11.4235	14.1473	0.65357	0.0719:0.0:0.9281:0.0	.	398;437;415;436	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	L	436;435;415;437;415	ENSP00000295974:P436L;ENSP00000426018:P415L;ENSP00000427211:P437L;ENSP00000421539:P415L	ENSP00000295974:P436L	P	-	2	0	APBB2	40590130	1.000000	0.71417	0.262000	0.24481	0.005000	0.04900	9.771000	0.98977	1.332000	0.45431	0.561000	0.74099	CCC	APBB2	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000163697		0.507	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	-	0.00	92	0	G	NM_173075		40895373	-1	tier1	-	no_errors	ENST00000295974	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	A
APOL3	80833	genome.wustl.edu	37	22	36537873	36537873	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:36537873C>G	ENST00000349314.2	-	3	621	c.584G>C	c.(583-585)gGc>gCc	p.G195A	APOL3_ENST00000397293.2_Missense_Mutation_p.G124A|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	195					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGAGGCAGCGCCAGTGGAGCT	0.552																																																	0													94.0	86.0	89.0					22																	36537873		2203	4300	6503	SO:0001583	missense	0			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.584G>C	22.37:g.36537873C>G	ENSP00000344577:p.Gly195Ala		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.G195A	ENST00000349314.2	37	c.584	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121715	0.56613	.	.	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.03982	3.74;3.74	4.3	3.25	0.37280	.	0.222718	0.47093	D	0.000246	T	0.10680	0.0261	L	0.38692	1.165	0.58432	D	0.999999	D;D	0.57257	0.979;0.974	P;P	0.60473	0.875;0.874	T	0.05716	-1.0868	10	0.51188	T	0.08	.	12.1038	0.53801	0.0:0.8248:0.1752:0.0	.	195;124	O95236;O95236-2	APOL3_HUMAN;.	A	124;195	ENSP00000380461:G124A;ENSP00000344577:G195A	ENSP00000344577:G195A	G	-	2	0	APOL3	34867819	0.001000	0.12720	0.001000	0.08648	0.046000	0.14306	1.419000	0.34793	1.137000	0.42214	0.478000	0.44815	GGC	APOL3	-	pfam_ApoL	ENSG00000128284		0.552	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0.00	22	0	C	NM_145641		36537873	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.038	G
ARHGAP24	83478	genome.wustl.edu	37	4	86916404	86916404	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:86916404G>A	ENST00000395184.1	+	9	2063	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D438N|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D440N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	533					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTCCACCTATGATAATGTCCA	0.483																																																	0													135.0	115.0	121.0					4																	86916404		2203	4300	6503	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1597G>A	4.37:g.86916404G>A	ENSP00000378611:p.Asp533Asn		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D533N	ENST00000395184.1	37	c.1597	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741250	0.89573	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.55052	1.12;0.71;0.54;0.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.73433	-0.3984	10	0.56958	D	0.05	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	438;440;533	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	N	533;438;448;440	ENSP00000378611:D533N;ENSP00000378610:D438N;ENSP00000425589:D448N;ENSP00000264343:D440N	ENSP00000264343:D440N	D	+	1	0	ARHGAP24	87135428	1.000000	0.71417	0.883000	0.34634	0.729000	0.41735	9.434000	0.97515	2.779000	0.95612	0.591000	0.81541	GAT	ARHGAP24	-	NULL	ENSG00000138639		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0.00	65	0	G	NM_031305		86916404	+1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A
ASAP1	50807	genome.wustl.edu	37	8	131414169	131414169	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:131414169C>G	ENST00000518721.1	-	2	248	c.21G>C	c.(19-21)agG>agC	p.R7S	ASAP1_ENST00000520625.1_5'Flank|ASAP1_ENST00000357668.1_Missense_Mutation_p.R7S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	7					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTGGAGAGCCTGGAGGCTG	0.522																																																	0													75.0	72.0	73.0					8																	131414169		2203	4300	6503	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.21G>C	8.37:g.131414169C>G	ENSP00000429900:p.Arg7Ser		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.R7S	ENST00000518721.1	37	c.21	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365636	0.41902	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06371	3.31;3.31	6.03	6.03	0.97812	.	0.277119	0.28209	N	0.016189	T	0.06554	0.0168	N	0.02011	-0.69	0.36478	D	0.867684	D	0.54601	0.967	P	0.60789	0.879	T	0.53620	-0.8413	10	0.44086	T	0.13	.	11.331	0.49477	0.0:0.9184:0.0:0.0816	.	7	Q9ULH1	ASAP1_HUMAN	S	7	ENSP00000350297:R7S;ENSP00000429900:R7S	ENSP00000344591:R7S	R	-	3	2	ASAP1	131483351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	2.868000	0.98415	0.555000	0.69702	AGG	ASAP1	-	NULL	ENSG00000153317		0.522	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	-	0.00	30	0	C	NM_018482		131414169	-1	tier1	-	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	G
ATM	472	genome.wustl.edu	37	11	108137898	108137898	+	Splice_Site	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:108137898G>A	ENST00000452508.2	+	18	2656	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T	ATM_ENST00000278616.4_Splice_Site_p.A823T|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	823					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCCTTGAAGGCATCCTTCAT	0.428			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													97.0	84.0	88.0					11																	108137898		2201	4298	6499	SO:0001630	splice_region_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2467-1G>A	11.37:g.108137898G>A			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A823T	ENST00000452508.2	37	c.2467	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296853	0.23650	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.74632	-0.86;-0.86;-0.86	5.32	3.38	0.38709	Armadillo-type fold (1);	0.397008	0.26331	N	0.024998	T	0.65595	0.2706	M	0.63428	1.95	0.23095	N	0.998309	B	0.20887	0.049	B	0.18561	0.022	T	0.53865	-0.8378	9	.	.	.	.	5.0348	0.14428	0.118:0.0:0.5311:0.3509	.	823	Q13315	ATM_HUMAN	T	823	ENSP00000435747:A823T;ENSP00000278616:A823T;ENSP00000388058:A823T	.	A	+	1	0	ATM	107643108	0.979000	0.34478	0.524000	0.27887	0.121000	0.20230	1.124000	0.31320	0.556000	0.29098	0.655000	0.94253	GCA	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.428	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0.00	47	0	G	NM_000051	Missense_Mutation	108137898	+1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.877	A
ATP10B	23120	genome.wustl.edu	37	5	160067570	160067570	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:160067570T>C	ENST00000327245.5	-	10	1744	c.898A>G	c.(898-900)Agt>Ggt	p.S300G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	300					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGGGCCACTGTTGTTCAGC	0.483																																																	0													179.0	183.0	182.0					5																	160067570		2013	4205	6218	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.898A>G	5.37:g.160067570T>C	ENSP00000313600:p.Ser300Gly		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S300G	ENST00000327245.5	37	c.898	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943693	0.73672	.	.	ENSG00000118322	ENST00000327245	D	0.91011	-2.77	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.112693	0.64402	D	0.000007	D	0.88235	0.6382	L	0.31157	0.91	0.40676	D	0.982268	P;B;P;B	0.50528	0.763;0.003;0.936;0.201	P;B;P;B	0.49528	0.61;0.026;0.614;0.138	D	0.87698	0.2558	9	.	.	.	.	14.6292	0.68643	0.0:0.0:0.0:1.0	.	344;300;272;300	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	G	300	ENSP00000313600:S300G	.	S	-	1	0	ATP10B	160000148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.910000	0.87451	2.059000	0.61396	0.528000	0.53228	AGT	ATP10B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0.00	85	0	T	NM_025153		160067570	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C
ATP2B3	492	genome.wustl.edu	37	X	152818513	152818513	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:152818513G>T	ENST00000349466.2	+	12	2170	c.1844G>T	c.(1843-1845)aGc>aTc	p.S615I	ATP2B3_ENST00000393842.1_Missense_Mutation_p.S601I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.S615I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.S615I|ATP2B3_ENST00000370186.1_Missense_Mutation_p.S601I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.S601I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	615					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTGAACAGCAATGGCGAA	0.607																																																	0													66.0	61.0	63.0					X																	152818513		2203	4300	6503	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1844G>T	X.37:g.152818513G>T	ENSP00000343886:p.Ser615Ile		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.S615I	ENST00000349466.2	37	c.1844	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007952	0.19199	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.44	3.67	0.42095	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.247012	0.47455	D	0.000229	D	0.90532	0.7033	L	0.28274	0.84	0.22521	N	0.999026	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.003	T	0.81665	-0.0830	10	0.51188	T	0.08	-29.4312	10.3093	0.43699	0.1679:0.0:0.8321:0.0	.	615;615	Q16720;Q16720-2	AT2B3_HUMAN;.	I	601;615;601;615;615;601	ENSP00000359205:S601I;ENSP00000343886:S615I;ENSP00000377425:S601I;ENSP00000352062:S615I;ENSP00000263519:S615I;ENSP00000359200:S601I	ENSP00000263519:S615I	S	+	2	0	ATP2B3	152471707	0.000000	0.05858	0.818000	0.32626	0.299000	0.27559	-0.560000	0.05964	0.482000	0.27582	0.600000	0.82982	AGC	ATP2B3	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000067842		0.607	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0.00	26	0	G	NM_021949		152818513	+1	tier1	-	no_errors	ENST00000263519	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.349	T
ATXN2L	11273	genome.wustl.edu	37	16	28838251	28838251	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:28838251C>G	ENST00000336783.4	+	6	852	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q229E|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q229E|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q229E|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q229E|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q229E|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q229E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	229					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAAGGTGCTTCAGCGCTGGGA	0.537																																																	0													92.0	80.0	84.0					16																	28838251		2197	4300	6497	SO:0001583	missense	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.685C>G	16.37:g.28838251C>G	ENSP00000338718:p.Gln229Glu		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q229E	ENST00000336783.4	37	c.685	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081952	0.36758	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47177	0.86;0.85;0.87;0.87;0.87	5.68	5.68	0.88126	.	0.171303	0.41294	D	0.000904	T	0.27731	0.0682	N	0.01576	-0.805	0.46823	D	0.999214	D;P;P;D;P;P;P;D	0.57257	0.979;0.885;0.906;0.967;0.885;0.885;0.906;0.959	P;B;P;P;B;B;P;B	0.50405	0.64;0.392;0.527;0.527;0.392;0.392;0.527;0.392	T	0.24083	-1.0170	10	0.12766	T	0.61	-10.6323	13.5152	0.61537	0.1562:0.8438:0.0:0.0	.	229;229;229;229;229;229;229;229	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	E	229	ENSP00000341459:Q229E;ENSP00000378917:Q229E;ENSP00000338718:Q229E;ENSP00000372133:Q229E;ENSP00000315650:Q229E	ENSP00000315650:Q229E	Q	+	1	0	ATXN2L	28745752	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.687000	0.91594	0.561000	0.74099	CAG	ATXN2L	-	NULL	ENSG00000168488		0.537	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	-	0.00	47	0	C	NM_007245		28838251	+1	tier1	-	no_errors	ENST00000395547	ensembl	human	known	74_37	missense	44.83	32	26	SNP	1.000	G
BANK1	55024	genome.wustl.edu	37	4	102984253	102984253	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:102984253G>C	ENST00000322953.4	+	13	2444	c.2170G>C	c.(2170-2172)Gac>Cac	p.D724H	BANK1_ENST00000508653.1_Missense_Mutation_p.D591H|BANK1_ENST00000444316.2_Missense_Mutation_p.D694H|BANK1_ENST00000504592.1_Missense_Mutation_p.D709H|BANK1_ENST00000428908.1_Missense_Mutation_p.D591H	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	724					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACAACTACGAGACTGCATTAT	0.323																																																	0													95.0	96.0	96.0					4																	102984253		2203	4300	6503	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2170G>C	4.37:g.102984253G>C	ENSP00000320509:p.Asp724His		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.D724H	ENST00000322953.4	37	c.2170	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846583	0.32606	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.27256	2.35;2.34;1.68;1.68;2.35	5.58	4.72	0.59763	.	0.125811	0.51477	D	0.000093	T	0.44726	0.1307	L	0.53249	1.67	0.32582	N	0.528319	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.961;0.961	T	0.58515	-0.7623	10	0.87932	D	0	.	11.6306	0.51173	0.0:0.0:0.8221:0.1779	.	591;724;709	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	H	709;724;591;591;694	ENSP00000421443:D709H;ENSP00000320509:D724H;ENSP00000412748:D591H;ENSP00000422314:D591H;ENSP00000388817:D694H	ENSP00000320509:D724H	D	+	1	0	BANK1	103203276	1.000000	0.71417	0.950000	0.38849	0.018000	0.09664	2.422000	0.44696	1.311000	0.45024	0.561000	0.74099	GAC	BANK1	-	NULL	ENSG00000153064		0.323	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0.00	61	0	G	NM_017935		102984253	+1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.992	C
BCR	613	genome.wustl.edu	37	22	23610673	23610673	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:23610673G>A	ENST00000305877.8	+	5	2582	c.1831G>A	c.(1831-1833)Gcc>Acc	p.A611T	BCR_ENST00000359540.3_Missense_Mutation_p.A611T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	611	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GTGCTGTCAGGCCAATGCTCA	0.577			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													128.0	101.0	110.0					22																	23610673		2203	4300	6503	SO:0001583	missense	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1831G>A	22.37:g.23610673G>A	ENSP00000303507:p.Ala611Thr		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.A611T	ENST00000305877.8	37	c.1831	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.749221	0.96882	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.62941	-0.01;-0.01	5.49	5.49	0.81192	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.37750	1.13	0.80722	D	1	B;P;P	0.42123	0.418;0.729;0.771	B;P;P	0.51550	0.224;0.544;0.673	T	0.64567	-0.6377	10	0.44086	T	0.13	.	18.7448	0.91788	0.0:0.0:1.0:0.0	.	200;611;611	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	T	611;611;276	ENSP00000303507:A611T;ENSP00000352535:A611T	ENSP00000303507:A611T	A	+	1	0	BCR	21940673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.412000	0.66392	2.761000	0.94854	0.655000	0.94253	GCC	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000186716		0.577	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0.00	27	0	G	NM_004327		23610673	+1			no_errors	ENST00000305877	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
C22orf34	348645	genome.wustl.edu	37	22	50016807	50016807	+	Stop_Codon_Del	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:50016807delA	ENST00000444628.1	-	0	2158				C22orf34_ENST00000405854.1_Intron|C22orf34_ENST00000400023.1_Intron			Q6ZV56	CV034_HUMAN	chromosome 22 open reading frame 34											pancreas(1)	1						acagaaacctagacacagtga	0.542																																																	0																																										SO:0001567	stop_retained_variant	0			BC048207		22q13.33	2013-01-15			ENSG00000188511	ENSG00000188511			28010	other	unknown						12477932	Standard	NR_026997		Approved		uc003bit.3	Q6ZV56	OTTHUMG00000030424	Exception_encountered	22.37:g.50016807delA	Exception_encountered		Q147Y0|Q5R3D1|Q6ZTN8	Frame_Shift_Del	DEL	NULL	p.*363fs	ENST00000444628.1	37	c.1087		22																																																																																			C22orf34	-	NULL	ENSG00000188511		0.542	C22orf34-201	KNOWN	basic|appris_candidate_longest	protein_coding	C22orf34	HGNC	protein_coding			0.00	43	0	A	NR_026997		50016807	-1	tier1		no_errors	ENST00000444628	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.014	-
C2orf76	130355	genome.wustl.edu	37	2	120069281	120069282	+	Splice_Site	INS	-	-	A	rs112925717|rs200673901	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:120069281_120069282insA	ENST00000409466.2	-	6	744		c.e6-2		C2orf76_ENST00000409523.1_Splice_Site|C2orf76_ENST00000334816.7_Splice_Site|C2orf76_ENST00000409877.1_Splice_Site			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76											large_intestine(1)|lung(3)|pancreas(1)	5						TTCATTTGTCTAAAAAAAAAAA	0.401																																																	0																																										SO:0001630	splice_region_variant	0				CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.223-2->T	2.37:g.120069292_120069292dupA			B7ZLS8|Q4VC35	Splice_Site	INS	-	e4-2	ENST00000409466.2	37	c.223-3_223-2	CCDS42739.1	2																																																																																			C2orf76	-	-	ENSG00000186132		0.401	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf76	HGNC	protein_coding	OTTHUMT00000330582.2		0.00	28	0	-	NM_001017927	Intron	120069282	-1	tier1		no_errors	ENST00000334816	ensembl	human	known	74_37	splice_site_ins	11.76	45	6	INS	0.984:0.405	A
C8orf34	116328	genome.wustl.edu	37	8	69537880	69537880	+	Intron	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:69537880C>T	ENST00000539993.1	+	8	1396				C8orf34_ENST00000337103.4_Intron|C8orf34_ENST00000325233.3_Silent_p.S23S|C8orf34_ENST00000518698.1_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			tgcatctcagcggtgggaaag	0.473																																																	0																																										SO:0001627	intron_variant	0			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.848-14731C>T	8.37:g.69537880C>T			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	NULL	p.S23	ENST00000539993.1	37	c.69		8																																																																																			C8orf34	-	NULL	ENSG00000165084		0.473	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		-	0.00	49	0	C	NM_052958		69537880	+1	tier1	-	no_errors	ENST00000325233	ensembl	human	known	74_37	silent	8.75	73	7	SNP	0.381	T
CACNA1S	779	genome.wustl.edu	37	1	201027607	201027607	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:201027607C>T	ENST00000362061.3	-	28	3764	c.3538G>A	c.(3538-3540)Gac>Aac	p.D1180N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1180N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1180				D -> N (in Ref. 1; AAA51902 and 2; AAB37235). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCAGGGGTCTCCAAAGTAG	0.547																																																	0													85.0	76.0	79.0					1																	201027607		2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3538G>A	1.37:g.201027607C>T	ENSP00000355192:p.Asp1180Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.D1180N	ENST00000362061.3	37	c.3538	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556909	0.86231	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98717	-5.09;-5.09	4.05	4.05	0.47172	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	L	0.53617	1.68	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.72032	D	0.01	.	15.4729	0.75453	0.0:1.0:0.0:0.0	.	1180	Q13698	CAC1S_HUMAN	N	1180	ENSP00000355192:D1180N;ENSP00000356307:D1180N	ENSP00000355192:D1180N	D	-	1	0	CACNA1S	199294230	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.628000	0.83189	2.228000	0.72767	0.555000	0.69702	GAC	CACNA1S	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000081248		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0.00	35	0	C	NM_000069		201027607	-1	tier1	-	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	T
CASR	846	genome.wustl.edu	37	3	121994703	121994703	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:121994703G>A	ENST00000490131.1	+	5	1794	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	CASR_ENST00000296154.5_Silent_p.G474G|CASR_ENST00000498619.1_Silent_p.G474G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	474					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACAATATGGGGGAGCAGGTGA	0.488																																																	0													115.0	105.0	108.0					3																	121994703		2203	4300	6503	SO:0001819	synonymous_variant	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1422G>A	3.37:g.121994703G>A			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.G474	ENST00000490131.1	37	c.1422	CCDS3010.1	3																																																																																			CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom	ENSG00000036828		0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	-	0.00	78	0	G	NM_000388		121994703	+1	tier1	-	no_errors	ENST00000498619	ensembl	human	known	74_37	silent	13.39	97	15	SNP	1.000	A
CCNC	892	genome.wustl.edu	37	6	99997423	99997423	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:99997423C>G	ENST00000520429.1	-	9	1004	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000523985.1_Missense_Mutation_p.D102H|CCNC_ENST00000520371.1_Missense_Mutation_p.D187H|CCNC_ENST00000518714.1_Missense_Mutation_p.D187H|CCNC_ENST00000369220.4_Missense_Mutation_p.D186H|CCNC_ENST00000523799.1_Missense_Mutation_p.D102H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	187					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGCAAAGATCCGTTCTGTAG	0.348																																					GBM(57;273 1020 40094 44454 49348)												0													120.0	103.0	109.0					6																	99997423		2203	4299	6502	SO:0001583	missense	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.559G>C	6.37:g.99997423C>G	ENSP00000428982:p.Asp187His		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	p.D187H	ENST00000520429.1	37	c.559	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123471	0.77436	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.36699	1.61;1.61;1.61;1.24;1.26;1.24;1.61;1.29	5.25	4.38	0.52667	Cyclin-like (2);	0.049283	0.85682	D	0.000000	T	0.58466	0.2124	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69355	-0.5167	9	.	.	.	-9.743	14.1661	0.65477	0.0:0.9274:0.0:0.0726	.	187;187	Q7Z4L3;P24863	.;CCNC_HUMAN	H	187;186;187;102;133;102;187;102	ENSP00000428982:D187H;ENSP00000358222:D186H;ENSP00000430381:D187H;ENSP00000430014:D102H;ENSP00000430077:D133H;ENSP00000430119:D102H;ENSP00000430294:D187H;ENSP00000427885:D102H	.	D	-	1	0	CCNC	100104144	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.669000	0.83911	1.343000	0.45638	-0.140000	0.14226	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	ENSG00000112237		0.348	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	-	0.00	40	0	C	NM_005190		99997423	-1	tier1	-	no_errors	ENST00000520429	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G
CD3EAP	10849	genome.wustl.edu	37	19	45912490	45912492	+	In_Frame_Del	DEL	AAG	AAG	-	rs374686338|rs35729377		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:45912490_45912492delAAG	ENST00000309424.3	+	3	1752_1754	c.1264_1266delAAG	c.(1264-1266)aagdel	p.K428del	ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K430del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	428	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CACATCCACCaagaagaagaaga	0.557																																																	0																																										SO:0001651	inframe_deletion	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1264_1266delAAG	19.37:g.45912499_45912501delAAG	ENSP00000310966:p.Lys428del		Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	pfam_DNA-dir_RNA_pol1_su_RPA34	p.K427in_frame_del	ENST00000309424.3	37	c.1270_1272	CCDS12661.1	19																																																																																			CD3EAP	-	NULL	ENSG00000117877		0.557	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1		0.00	32	0	AAG	NM_012099		45912492	+1	tier1		no_errors	ENST00000589804	ensembl	human	known	74_37	in_frame_del	10.00	27	3	DEL	0.656:0.828:0.908	-
CD40LG	959	genome.wustl.edu	37	X	135738563	135738563	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:135738563G>A	ENST00000370629.2	+	4	451	c.395G>A	c.(394-396)aGt>aAt	p.S132N	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	132					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GAGGCCAGCAGTAAAACAACA	0.458									Immune Deficiency with Hyper-IgM																																								0													162.0	133.0	143.0					X																	135738563		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.395G>A	X.37:g.135738563G>A	ENSP00000359663:p.Ser132Asn			Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.S132N	ENST00000370629.2	37	c.395	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	G	5.742	0.321339	0.10845	.	.	ENSG00000102245	ENST00000370629	D	0.97959	-4.63	5.56	4.69	0.59074	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.339448	0.31760	N	0.007119	D	0.91626	0.7354	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87102	0.2179	10	0.19590	T	0.45	.	8.3031	0.32025	0.1064:0.0:0.8936:0.0	.	132	P29965	CD40L_HUMAN	N	132	ENSP00000359663:S132N	ENSP00000359663:S132N	S	+	2	0	CD40LG	135566229	0.923000	0.31300	0.929000	0.37066	0.835000	0.47333	1.232000	0.32636	2.331000	0.79229	0.600000	0.82982	AGT	CD40LG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom	ENSG00000102245		0.458	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1		0.00	23	0	G	NM_000074		135738563	+1			no_errors	ENST00000370629	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.790	A
CDC25B	994	genome.wustl.edu	37	20	3782721	3782721	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:3782721G>A	ENST00000245960.5	+	10	1769	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CDC25B_ENST00000439880.2_Missense_Mutation_p.E344K|CDC25B_ENST00000344256.6_Missense_Mutation_p.E294K|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.E267K|CDC25B_ENST00000340833.4_Missense_Mutation_p.E317K	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	358					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GACCCCTCCTGAGGAGCAGCA	0.647																																																	0													31.0	27.0	28.0					20																	3782721		2184	4268	6452	SO:0001583	missense	0				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1072G>A	20.37:g.3782721G>A	ENSP00000245960:p.Glu358Lys		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E358K	ENST00000245960.5	37	c.1072	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515924	0.27123	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	4.62	3.65	0.41850	.	0.314966	0.30329	N	0.009867	T	0.24928	0.0605	L	0.44542	1.39	0.26074	N	0.981172	P;P;P;B;P;P	0.46512	0.772;0.879;0.772;0.218;0.604;0.772	B;P;B;B;B;B	0.46796	0.428;0.527;0.428;0.047;0.22;0.403	T	0.06991	-1.0796	10	0.18710	T	0.47	.	11.369	0.49690	0.0976:0.0:0.9024:0.0	.	267;280;294;317;344;358	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	K	294;267;358;344;317	ENSP00000339125:E294K;ENSP00000368918:E267K;ENSP00000245960:E358K;ENSP00000405972:E344K;ENSP00000339170:E317K	ENSP00000245960:E358K	E	+	1	0	CDC25B	3730721	.	.	0.401000	0.26359	0.485000	0.33311	.	.	2.288000	0.76882	0.591000	0.81541	GAG	CDC25B	-	pfam_MPI_Phosphatase	ENSG00000101224		0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	-	0.00	70	0	G	NM_021874		3782721	+1	tier1	-	no_errors	ENST00000245960	ensembl	human	known	74_37	missense	47.42	51	46	SNP	0.426	A
CEP350	9857	genome.wustl.edu	37	1	179989590	179989590	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:179989590A>G	ENST00000367607.3	+	12	3099	c.2681A>G	c.(2680-2682)cAg>cGg	p.Q894R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	894					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCAGAATTCAGAAGATGCTG	0.418																																																	0													98.0	97.0	97.0					1																	179989590		2203	4300	6503	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2681A>G	1.37:g.179989590A>G	ENSP00000356579:p.Gln894Arg		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q894R	ENST00000367607.3	37	c.2681	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224786	0.79576	.	.	ENSG00000135837	ENST00000367607	T	0.13420	2.59	6.02	6.02	0.97574	.	0.000000	0.47093	D	0.000249	T	0.27278	0.0669	L	0.34521	1.04	0.54753	D	0.999985	D;D	0.71674	0.997;0.998	P;D	0.77557	0.879;0.99	T	0.01175	-1.1428	9	.	.	.	.	16.2061	0.82131	1.0:0.0:0.0:0.0	.	894;894	E7EU22;Q5VT06	.;CE350_HUMAN	R	894	ENSP00000356579:Q894R	.	Q	+	2	0	CEP350	178256213	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.655000	0.91098	2.311000	0.77944	0.533000	0.62120	CAG	CEP350	-	NULL	ENSG00000135837		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2		0.00	22	0	A	NM_014810		179989590	+1			no_errors	ENST00000367607	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G
COL18A1	80781	genome.wustl.edu	37	21	46930153	46930153	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr21:46930153C>T	ENST00000359759.4	+	39	4937	c.4916C>T	c.(4915-4917)gCc>gTc	p.A1639V	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.A1224V|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.A1404V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1639	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)		GACCGCGCAGCCGTGCCCATC	0.716																																																	0													9.0	11.0	10.0					21																	46930153		2041	4161	6202	SO:0001583	missense	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.4916C>T	21.37:g.46930153C>T	ENSP00000352798:p.Ala1639Val		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	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.A1639V	ENST00000359759.4	37	c.4916		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299042|1.299042	0.23650|0.23650	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	4.7|4.7	-1.65|-1.65	0.08291|0.08291	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);|.	1.841150|.	0.03170|.	N|.	0.170533|.	T|T	0.23330|0.23330	0.0564|0.0564	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B|.	0.13145|.	0.007;0.0;0.005;0.005|.	B;B;B;B|.	0.06405|.	0.002;0.0;0.001;0.001|.	T|T	0.29610|0.29610	-1.0006|-1.0006	10|5	0.40728|.	T|.	0.16|.	.|.	4.8226|4.8226	0.13398|0.13398	0.1624:0.4191:0.3346:0.0839|0.1624:0.4191:0.3346:0.0839	.|.	1639;1221;1404;1224|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	V|S	1224;1224;1404;1639;1639;572|209	ENSP00000383191:A1224V;ENSP00000347665:A1404V;ENSP00000352798:A1639V;ENSP00000339118:A572V|.	ENSP00000339118:A572V|.	A|P	+|+	2|1	0|0	COL18A1|COL18A1	45754581|45754581	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.706000|-1.706000	0.01895|0.01895	-0.191000|-0.191000	0.10448|0.10448	-0.140000|-0.140000	0.14226|0.14226	GCC|CCG	COL18A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold	ENSG00000182871		0.716	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0.00	52	0	C			46930153	+1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T
COL6A3	1293	genome.wustl.edu	37	2	238277596	238277596	+	Missense_Mutation	SNP	G	G	A	rs144223596	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:238277596G>A	ENST00000295550.4	-	10	4962	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	COL6A3_ENST00000472056.1_Missense_Mutation_p.R897W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1298W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1298W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1304W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1303W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1504	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCAGGCGCCGTATGGCGTCC	0.542																																																	0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	46.0	48.0	47.0		4510,2689,3892	5.4	0.2	2	dbSNP_134	47	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	101,101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	1504/3178,897/2571,1298/2972	238277596	4,13002	2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4510C>T	2.37:g.238277596G>A	ENSP00000295550:p.Arg1504Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1504W	ENST00000295550.4	37	c.4510	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404394	0.25378	0.0	4.65E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	D	0.92691	0.7677	M	0.93898	3.47	0.42024	D	0.990996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.963	D	0.94476	0.7689	10	0.87932	D	0	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	897;1298;1504	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	W	1504;1303;1298;897;1298;1304	ENSP00000295550:R1504W;ENSP00000315609:R1303W;ENSP00000315873:R1298W;ENSP00000418285:R897W;ENSP00000386844:R1298W;ENSP00000295546:R1304W	ENSP00000295550:R1504W	R	-	1	2	COL6A3	237942335	0.952000	0.32445	0.212000	0.23672	0.173000	0.22820	2.741000	0.47426	2.512000	0.84698	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	29	0	G	NM_004369		238277596	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.568	A
CTAG2	30848	genome.wustl.edu	37	X	153881746	153881746	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:153881746G>A	ENST00000247306.4	-	1	107	c.44C>T	c.(43-45)gCt>gTt	p.A15V	CTAG2_ENST00000369585.3_Missense_Mutation_p.A15V	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	15	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCCATCAGCATCGCCCGT	0.721																																																	0													4.0	9.0	8.0					X																	153881746		1148	3646	4794	SO:0001583	missense	0			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.44C>T	X.37:g.153881746G>A	ENSP00000247306:p.Ala15Val		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	pfam_EKC/KEOPS_Pcc1	p.A15V	ENST00000247306.4	37	c.44	CCDS14759.1	X	.	.	.	.	.	.	.	.	.	.	g	10.83	1.461492	0.26248	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.31247	1.5;1.58	2.5	-0.472	0.12115	.	.	.	.	.	T	0.14356	0.0347	N	0.19112	0.55	0.09310	N	1	B;P	0.40332	0.384;0.713	B;B	0.33339	0.078;0.162	T	0.14035	-1.0487	9	0.87932	D	0	.	3.2557	0.06831	0.4322:0.2151:0.3527:0.0	.	15;15	O75638;O75638-2	CTAG2_HUMAN;.	V	15	ENSP00000247306:A15V;ENSP00000358598:A15V	ENSP00000247306:A15V	A	-	2	0	CTAG2	153534940	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.677000	0.05215	-0.230000	0.09840	-0.491000	0.04670	GCT	CTAG2	-	NULL	ENSG00000126890		0.721	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	HGNC	protein_coding	OTTHUMT00000061176.1	-	0.00	25	0	G	NM_020994		153881746	-1	tier1	-	no_errors	ENST00000369585	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	A
DCDC1	341019	genome.wustl.edu	37	11	31349672	31349672	+	Silent	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:31349672A>G	ENST00000452803.1	-	3	357	c.156T>C	c.(154-156)gaT>gaC	p.D52D	DCDC1_ENST00000597505.1_Silent_p.D52D	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	52					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACCTTGGTAAATCATTCAAAA	0.348																																																	0													57.0	57.0	57.0					11																	31349672		2202	4299	6501	SO:0001819	synonymous_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.156T>C	11.37:g.31349672A>G			A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	pfscan_Doublecortin_dom	p.D52	ENST00000452803.1	37	c.156	CCDS7872.1	11																																																																																			DCDC1	-	NULL	ENSG00000170959		0.348	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	-	0.00	58	0	A	NM_181807		31349672	-1	tier1	-	no_errors	ENST00000452803	ensembl	human	known	74_37	silent	20.93	33	9	SNP	0.064	G
DCTN1	1639	genome.wustl.edu	37	2	74595885	74595885	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:74595885C>T	ENST00000361874.3	-	16	2141	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V	DCTN1_ENST00000407639.2_Silent_p.V474V|DCTN1_ENST00000409868.1_Silent_p.V591V|DCTN1_ENST00000409567.3_Silent_p.V588V|DCTN1_ENST00000394003.3_Silent_p.V601V|DCTN1_ENST00000409240.1_Silent_p.V571V|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Silent_p.V474V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	608					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGAGCAACAGCACCAGAACGC	0.527																																																	0													162.0	127.0	139.0					2																	74595885		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1824G>A	2.37:g.74595885C>T			A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.V608	ENST00000361874.3	37	c.1824	CCDS1939.1	2																																																																																			DCTN1	-	pfam_Dynactin,superfamily_P-loop_NTPase	ENSG00000204843		0.527	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	-	0.00	48	0	C	NM_004082		74595885	-1	tier1	-	no_errors	ENST00000361874	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.996	T
DCTN4	51164	genome.wustl.edu	37	5	150136010	150136010	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:150136010G>A	ENST00000447998.2	-	2	290	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Missense_Mutation_p.P59S|DCTN4_ENST00000424236.1_Missense_Mutation_p.P2S	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	59					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGCCGATGGCATATTTTCT	0.343																																																	0													58.0	63.0	61.0					5																	150136010		2203	4300	6503	SO:0001583	missense	0			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.175C>T	5.37:g.150136010G>A	ENSP00000416968:p.Pro59Ser		B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	pfam_Dynactin_p62	p.P59S	ENST00000447998.2	37	c.175	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331519	0.60853	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000518015;ENST00000521533	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.43646	1.37	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.65140	0.889;0.932	T	0.38090	-0.9677	10	0.45353	T	0.12	-40.4297	18.6503	0.91428	0.0:0.0:1.0:0.0	.	59;59	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	S	59;2;59;2;2	ENSP00000416968:P59S;ENSP00000411251:P2S;ENSP00000414906:P59S;ENSP00000430993:P2S;ENSP00000430183:P2S	ENSP00000411251:P2S	P	-	1	0	DCTN4	150116203	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	9.706000	0.98722	2.370000	0.80446	0.655000	0.94253	CCA	DCTN4	-	pfam_Dynactin_p62	ENSG00000132912		0.343	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	HGNC	protein_coding	OTTHUMT00000252372.1	-	0.00	111	0	G			150136010	-1	tier1	-	no_errors	ENST00000446090	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A
DDX10	1662	genome.wustl.edu	37	11	108712068	108712068	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:108712068G>T	ENST00000322536.3	+	15	2241	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	DDX10_ENST00000526794.1_Missense_Mutation_p.Q704H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	704					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Q704H(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CACAAATGCAGAAATCTGCCA	0.418			T	NUP98	AML*																																			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)	lung(1)											80.0	76.0	77.0					11																	108712068		2201	4298	6499	SO:0001583	missense	0			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2112G>T	11.37:g.108712068G>T	ENSP00000314348:p.Gln704His		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q704H	ENST00000322536.3	37	c.2112	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006128	0.54361	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.45276	0.9;0.92	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.61218	1.895	0.48571	D	0.999675	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.936	T	0.61436	-0.7063	10	0.66056	D	0.02	-12.9617	11.5624	0.50785	0.0856:0.0:0.9144:0.0	.	704;704	Q13206;E9PIF2	DDX10_HUMAN;.	H	704;610;704	ENSP00000314348:Q704H;ENSP00000432032:Q704H	ENSP00000314348:Q704H	Q	+	3	2	DDX10	108217278	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	1.435000	0.34969	2.536000	0.85505	0.650000	0.86243	CAG	DDX10	-	NULL	ENSG00000178105		0.418	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1		0.00	57	0	G	NM_004398		108712068	+1			no_errors	ENST00000322536	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
DENND2A	27147	genome.wustl.edu	37	7	140257953	140257953	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:140257953C>T	ENST00000275884.6	-	10	2366	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	DENND2A_ENST00000537639.1_Missense_Mutation_p.R650Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R650Q|DENND2A_ENST00000492720.1_Missense_Mutation_p.R650Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	650	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCAGTCTTCGGCAGTAACC	0.483																																																	0													75.0	74.0	74.0					7																	140257953		1978	4152	6130	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1949G>A	7.37:g.140257953C>T	ENSP00000275884:p.Arg650Gln		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R650Q	ENST00000275884.6	37	c.1949	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.590884	0.96590	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.72	5.72	0.89469	uDENN (3);	0.000000	0.64402	D	0.000001	T	0.76442	0.3988	M	0.90369	3.11	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.992	T	0.80549	-0.1333	10	0.72032	D	0.01	-9.064	19.877	0.96880	0.0:1.0:0.0:0.0	.	650;650	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	Q	650	ENSP00000275884:R650Q;ENSP00000442245:R650Q;ENSP00000419654:R650Q;ENSP00000419464:R650Q	ENSP00000275884:R650Q	R	-	2	0	DENND2A	139904422	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	CGA	DENND2A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000146966		0.483	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1		0.00	25	0	C	NM_015689		140257953	-1			no_errors	ENST00000275884	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
DENND4B	9909	genome.wustl.edu	37	1	153910230	153910230	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:153910230G>T	ENST00000361217.4	-	14	2493	c.2075C>A	c.(2074-2076)cCa>cAa	p.P692Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	692					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTGCCCTCTGGTAAGGCAGG	0.567																																																	0													155.0	155.0	155.0					1																	153910230		1985	4176	6161	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2075C>A	1.37:g.153910230G>T	ENSP00000354597:p.Pro692Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P692Q	ENST00000361217.4	37	c.2075	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811506	0.32053	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07800	3.16;3.16	5.18	4.25	0.50352	.	0.499546	0.21946	N	0.066801	T	0.03739	0.0106	L	0.58810	1.83	0.09310	N	1	B	0.19445	0.036	B	0.20384	0.029	T	0.30238	-0.9985	10	0.30078	T	0.28	-0.1149	11.8729	0.52531	0.0869:0.0:0.9131:0.0	.	692	O75064	DEN4B_HUMAN	Q	692;703	ENSP00000354597:P692Q;ENSP00000357635:P703Q	ENSP00000354597:P692Q	P	-	2	0	DENND4B	152176854	1.000000	0.71417	0.067000	0.19924	0.670000	0.39368	7.473000	0.81007	1.374000	0.46228	0.655000	0.94253	CCA	DENND4B	-	NULL	ENSG00000198837		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2		0.00	27	0	G	XM_375806		153910230	-1			no_errors	ENST00000361217	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.018	T
DIDO1	11083	genome.wustl.edu	37	20	61513659	61513659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:61513659G>A	ENST00000266070.4	-	16	3974	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1217*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1217					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1217R(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTTGAAGTCGGGTCCGCTTT	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												1	Substitution - coding silent(1)	lung(1)											103.0	109.0	107.0					20																	61513659		2203	4300	6503	SO:0001587	stop_gained	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3649C>T	20.37:g.61513659G>A	ENSP00000266070:p.Arg1217*		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R1217*	ENST00000266070.4	37	c.3649	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.568925	0.99429	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.64	3.57	0.40892	.	0.261461	0.19582	N	0.110832	.	.	.	.	.	.	0.29620	N	0.846252	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2953	15.5718	0.76345	0.0:0.0:0.6269:0.3731	.	.	.	.	X	1217	.	ENSP00000266070:R1217X	R	-	1	2	DIDO1	60984104	1.000000	0.71417	0.273000	0.24645	0.011000	0.07611	2.939000	0.48995	1.506000	0.48736	0.563000	0.77884	CGA	DIDO1	-	NULL	ENSG00000101191		0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0.00	98	0	G	NM_080796		61513659	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	nonsense	39.69	79	52	SNP	0.212	A
DOCK8	81704	genome.wustl.edu	37	9	399160	399160	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:399160G>T	ENST00000453981.1	+	26	3247	c.3135G>T	c.(3133-3135)gcG>gcT	p.A1045A	DOCK8_ENST00000382329.1_Silent_p.A512A|DOCK8_ENST00000469391.1_Silent_p.A945A|DOCK8_ENST00000382331.1_Silent_p.A347A|DOCK8_ENST00000432829.2_Silent_p.A977A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1045					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGAACAGGCGGAAAAGATGA	0.448																																																	0													148.0	129.0	136.0					9																	399160		2202	4300	6502	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3135G>T	9.37:g.399160G>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A1045	ENST00000453981.1	37	c.3135	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5		0.00	45	0	G	XM_036307		399160	+1			no_errors	ENST00000453981	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.002	T
DPF2	5977	genome.wustl.edu	37	11	65111529	65111529	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:65111529A>G	ENST00000528416.1	+	6	759	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.Y209C|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GATAAGCCCTATGCCTGTGAC	0.552																																																	0													73.0	67.0	69.0					11																	65111529		2201	4297	6498	SO:0001583	missense	0			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.626A>G	11.37:g.65111529A>G	ENSP00000436901:p.Tyr209Cys		A8K7C9|B4DT58	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.Y209C	ENST00000528416.1	37	c.626	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193459	0.78902	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.93659	-3.26;-2.77	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34314	N	0.004064	D	0.96629	0.8900	M	0.83223	2.63	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.97064	0.9773	10	0.72032	D	0.01	-17.5785	14.1058	0.65088	1.0:0.0:0.0:0.0	.	209	Q92785	REQU_HUMAN	C	209	ENSP00000436901:Y209C;ENSP00000252268:Y209C	ENSP00000252268:Y209C	Y	+	2	0	DPF2	64868105	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.287000	0.78681	2.213000	0.71641	0.528000	0.53228	TAT	DPF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000133884		0.552	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	-	0.00	43	0	A	NM_006268		65111529	+1	tier1	-	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	G
DUSP27	92235	genome.wustl.edu	37	1	167096345	167096345	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:167096345G>T	ENST00000361200.2	+	6	2143	c.1977G>T	c.(1975-1977)ctG>ctT	p.L659L	DUSP27_ENST00000443333.1_Silent_p.L659L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.L659L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	659					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATTCCCCTGTCTGCGTTCT	0.647																																																	0													45.0	41.0	42.0					1																	167096345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1977G>T	1.37:g.167096345G>T			A0AUM4|Q9C074	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.L659	ENST00000361200.2	37	c.1977	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.647	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0.00	19	0	G	NM_001080426		167096345	+1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.989	T
DYNAP	284254	genome.wustl.edu	37	18	52262221	52262221	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:52262221C>G	ENST00000321600.1	+	2	233	c.187C>G	c.(187-189)Cta>Gta	p.L63V	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	63					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATGCTGGTGTCTACCTTCAAA	0.463																																																	0													200.0	184.0	189.0					18																	52262221		2203	4300	6503	SO:0001583	missense	0			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.187C>G	18.37:g.52262221C>G	ENSP00000315265:p.Leu63Val			Missense_Mutation	SNP	NULL	p.L63V	ENST00000321600.1	37	c.187	CCDS11957.1	18	.	.	.	.	.	.	.	.	.	.	.	7.285	0.609879	0.14066	.	.	ENSG00000178690	ENST00000321600	T	0.21191	2.02	4.18	-0.713	0.11223	.	0.878155	0.09490	N	0.795097	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.38564	-0.9655	10	0.21014	T	0.42	-0.7952	4.0498	0.09790	0.0:0.4236:0.1756:0.4008	.	63	Q8N1N2	CR026_HUMAN	V	63	ENSP00000315265:L63V	ENSP00000315265:L63V	L	+	1	2	C18orf26	50413219	0.000000	0.05858	0.026000	0.17262	0.175000	0.22909	-0.108000	0.10857	-0.154000	0.11118	0.563000	0.77884	CTA	DYNAP	-	NULL	ENSG00000178690		0.463	DYNAP-001	KNOWN	basic|CCDS	protein_coding	DYNAP	HGNC	protein_coding	OTTHUMT00000256007.1		0.00	62	0	C	NM_173629		52262221	+1			no_errors	ENST00000321600	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.029	G
DYNC1H1	1778	genome.wustl.edu	37	14	102472350	102472350	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:102472350G>T	ENST00000360184.4	+	27	5723	c.5559G>T	c.(5557-5559)gtG>gtT	p.V1853V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1853	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACTGATGTGTTACAGCAGT	0.433																																																	0													146.0	138.0	141.0					14																	102472350		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5559G>T	14.37:g.102472350G>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1853	ENST00000360184.4	37	c.5559	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase	ENSG00000197102		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	58	0	G	NM_001376		102472350	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.996	T
DYX1C1	161582	genome.wustl.edu	37	15	55790554	55790554	+	5'UTR	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:55790554C>G	ENST00000321149.3	-	0	341				DYX1C1_ENST00000380679.1_5'UTR|DYX1C1_ENST00000448430.2_5'Flank|DYX1C1_ENST00000348518.3_5'UTR|DYX1C1_ENST00000457155.2_5'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1						cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCGGATAGCGCGGCTGGTTGC	0.632																																																	0													31.0	29.0	30.0					15																	55790554		2192	4292	6484	SO:0001623	5_prime_UTR_variant	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.-27G>C	15.37:g.55790554C>G			Q6P5Y9|Q8N1S6	RNA	SNP	-	NULL	ENST00000321149.3	37	NULL	CCDS10154.1	15																																																																																			DYX1C1-CCPG1	-	-	ENSG00000261771		0.632	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1-CCPG1	HGNC	protein_coding	OTTHUMT00000254976.1	-	0.00	66	0	C	NM_130810		55790554	-1	tier1	-	no_errors	ENST00000565113	ensembl	human	known	74_37	rna	23.44	49	15	SNP	0.000	G
EHD2	30846	genome.wustl.edu	37	19	48244236	48244236	+	Silent	SNP	C	C	T	rs146746938		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:48244236C>T	ENST00000263277.3	+	6	1430	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.L257L	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	393					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCGCCAAGCTCATGCCCCTGC	0.642																																																	0								C		0,4406		0,0,2203	52.0	49.0	50.0		1179	-5.8	1.0	19	dbSNP_134	50	1,8599		0,1,4299	no	coding-synonymous	EHD2	NM_014601.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		393/544	48244236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1179C>T	19.37:g.48244236C>T			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.L393	ENST00000263277.3	37	c.1179	CCDS12704.1	19																																																																																			EHD2	-	NULL	ENSG00000024422		0.642	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	-	0.00	25	0	C			48244236	+1	tier1	rs146746938	no_errors	ENST00000263277	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.958	T
BEND7	222389	genome.wustl.edu	37	10	13570599	13570599	+	5'Flank	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:13570599delA	ENST00000396900.2	-	0	0				BEND7_ENST00000396898.2_5'Flank|RP11-214D15.2_ENST00000438431.1_RNA			Q8N7W2	BEND7_HUMAN	BEN domain containing 7							extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						cagcggcggcagcggcagcgg	0.761																																																	0																																										SO:0001631	upstream_gene_variant	0			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699		10.37:g.13570599delA	Exception_encountered		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	RNA	DEL	-	NULL	ENST00000396900.2	37	NULL		10																																																																																			RP11-214D15.2	-	-	ENSG00000227175		0.761	BEND7-202	KNOWN	basic	protein_coding	ENSG00000227175	Clone_based_vega_gene	protein_coding			0.00	11	0	A	NM_152751		13570599	+1	tier1		no_errors	ENST00000438431	ensembl	human	known	74_37	rna	33.33	6	3	DEL	0.663	-
NANOS1	340719	genome.wustl.edu	37	10	120795774	120795774	+	IGR	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:120795774G>T	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Missense_Mutation_p.S1275Y|EIF3A_ENST00000369144.3_Missense_Mutation_p.S1309Y	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ACGTCTCCAAGAACTTACTAA	0.388																																																	0													34.0	36.0	35.0					10																	120795774		2203	4299	6502	SO:0001628	intergenic_variant	0			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120795774G>T				Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.S1309Y	ENST00000425699.1	37	c.3926	CCDS7607.1	10	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600088	0.28534	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.37411	1.23;1.2	5.88	5.88	0.94601	.	0.000000	0.36628	U	0.002497	T	0.45094	0.1325	L	0.50333	1.59	0.50632	D	0.999884	D	0.56521	0.976	P	0.47744	0.556	T	0.37454	-0.9705	10	0.62326	D	0.03	-14.8421	20.2441	0.98394	0.0:0.0:1.0:0.0	.	1309	Q14152	EIF3A_HUMAN	Y	1309;1275	ENSP00000358140:S1309Y;ENSP00000438178:S1275Y	ENSP00000358140:S1309Y	S	-	2	0	EIF3A	120785764	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.664000	0.74437	2.774000	0.95407	0.655000	0.94253	TCT	EIF3A	-	NULL	ENSG00000107581		0.388	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000110794.1	-	0.00	84	0	G			120795774	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	T
RP11-763B22.6	0	genome.wustl.edu	37	1	148853641	148853642	+	lincRNA	INS	-	-	G	rs112974728		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:148853641_148853642insG	ENST00000456469.1	+	0	332_333																											ACGCAGCCCACCCCCACCCCCA	0.619																																																	0																																												0																															1.37:g.148853641_148853642insG				RNA	INS	-	NULL	ENST00000456469.1	37	NULL		1																																																																																			RP11-763B22.6	-	-	ENSG00000235887		0.619	RP11-763B22.6-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000235887	Clone_based_vega_gene	lincRNA	OTTHUMT00000097806.1		0.00	15	0	0			148853642	+1			no_errors	ENST00000456469	ensembl	human	known	74_37	rna	33.33	4	2	INS	0.904:0.905	G
SCO2	9997	genome.wustl.edu	37	22	50963047	50963047	+	Intron	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:50963047T>C	ENST00000543927.1	-	2	194				CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000395693.3_Intron|SCO2_ENST00000252785.3_Intron|SCO2_ENST00000535425.1_Intron	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein						cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCACACCTGTCACTCCTGTC	0.582																																																	0																																										SO:0001627	intron_variant	0			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.13-194A>G	22.37:g.50963047T>C			Q3T1B5|Q9UK87	RNA	SNP	-	NULL	ENST00000543927.1	37	NULL	CCDS14095.1	22																																																																																			CTA-384D8.36	-	-	ENSG00000272821		0.582	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272821	Clone_based_vega_gene	protein_coding	OTTHUMT00000317091.1	-	0.00	96	0	T	NM_005138		50963047	+1	tier1	-	no_errors	ENST00000608319	ensembl	human	known	74_37	rna	18.63	83	19	SNP	0.005	C
EPG5	57724	genome.wustl.edu	37	18	43505795	43505795	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:43505795C>A	ENST00000282041.5	-	14	2661	c.2627G>T	c.(2626-2628)cGg>cTg	p.R876L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	876					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TAACCAATCCCGAATCACCGC	0.363																																																	0													123.0	111.0	115.0					18																	43505795		1857	4099	5956	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2627G>T	18.37:g.43505795C>A	ENSP00000282041:p.Arg876Leu		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.R876L	ENST00000282041.5	37	c.2627	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930756	0.92389	.	.	ENSG00000152223	ENST00000282041	T	0.10668	2.85	5.47	5.47	0.80525	.	0.951132	0.08829	N	0.887620	T	0.31358	0.0794	L	0.56769	1.78	0.58432	D	0.999998	D;P	0.64830	0.994;0.946	P;P	0.59288	0.855;0.534	T	0.01743	-1.1283	10	0.52906	T	0.07	-22.6453	19.7445	0.96247	0.0:1.0:0.0:0.0	.	876;876	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	876	ENSP00000282041:R876L	ENSP00000282041:R876L	R	-	2	0	EPG5	41759793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.751000	0.94390	0.650000	0.86243	CGG	EPG5	-	NULL	ENSG00000152223		0.363	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0.00	66	0	C	NM_020964		43505795	-1			no_errors	ENST00000282041	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
EPHB4	2050	genome.wustl.edu	37	7	100417902	100417902	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:100417902G>T	ENST00000358173.3	-	5	1293	c.825C>A	c.(823-825)acC>acA	p.T275T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.T275T|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	275	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGCTTGAAGGTGCCCTGGG	0.577																																					GBM(200;2113 3072 25865 52728)												0													107.0	121.0	116.0					7																	100417902		2203	4300	6503	SO:0001819	synonymous_variant	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.825C>A	7.37:g.100417902G>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T275	ENST00000358173.3	37	c.825	CCDS5706.1	7																																																																																			EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000196411		0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1		0.00	45	0	G	NM_004444		100417902	-1			no_errors	ENST00000358173	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T
ERLIN1	10613	genome.wustl.edu	37	10	101943525	101943525	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:101943525G>T	ENST00000421367.2	-	2	2890	c.183C>A	c.(181-183)ttC>ttA	p.F61L	ERLIN1_ENST00000407654.3_Missense_Mutation_p.F61L	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	59					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCACAGATCTGAACGTAGTAA	0.443																																																	0													125.0	109.0	114.0					10																	101943525		2203	4300	6503	SO:0001583	missense	0			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.183C>A	10.37:g.101943525G>T	ENSP00000410964:p.Phe61Leu		B0QZ42|Q53HV0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.F61L	ENST00000421367.2	37	c.183	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388625	0.61956	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370408	D;D;D	0.93953	-3.32;-3.32;-3.32	5.19	5.19	0.71726	.	0.364726	0.28778	U	0.014175	D	0.92760	0.7698	L	0.54323	1.7	0.53005	D	0.999966	B	0.22983	0.078	B	0.36092	0.217	D	0.89861	0.4016	10	0.35671	T	0.21	-14.9645	16.5796	0.84711	0.0:0.0:1.0:0.0	.	61	D3DR65	.	L	61	ENSP00000410964:F61L;ENSP00000384900:F61L;ENSP00000359436:F61L	ENSP00000359436:F61L	F	-	3	2	ERLIN1	101933515	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.724000	0.68500	2.598000	0.87819	0.561000	0.74099	TTC	ERLIN1	-	pfam_Band_7,smart_Band_7	ENSG00000107566		0.443	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	-	0.00	68	0	G	NM_006459		101943525	-1	tier1	-	no_errors	ENST00000407654	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
EXOC1	55763	genome.wustl.edu	37	4	56734599	56734599	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:56734599C>T	ENST00000381295.2	+	5	861	c.513C>T	c.(511-513)atC>atT	p.I171I	EXOC1_ENST00000346134.7_Silent_p.I171I|EXOC1_ENST00000349598.6_Silent_p.I171I	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	171					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AACAGGATATCGAAATAATGA	0.413																																																	0													147.0	140.0	143.0					4																	56734599		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.513C>T	4.37:g.56734599C>T			Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	pfam_Exocyst_Exoc1/SEC3	p.I171	ENST00000381295.2	37	c.513	CCDS3502.1	4																																																																																			EXOC1	-	NULL	ENSG00000090989		0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	-	0.00	41	0	C	NM_018261		56734599	+1	tier1	-	no_errors	ENST00000346134	ensembl	human	known	74_37	silent	45.95	20	17	SNP	1.000	T
EXOC6B	23233	genome.wustl.edu	37	2	72945395	72945395	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:72945395G>T	ENST00000272427.6	-	6	636	c.506C>A	c.(505-507)aCc>aAc	p.T169N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.T169N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	169					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGGCAGGTAGGTATGCTCTAG	0.423																																																	0													123.0	121.0	122.0					2																	72945395		1944	4145	6089	SO:0001583	missense	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.506C>A	2.37:g.72945395G>T	ENSP00000272427:p.Thr169Asn		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.T169N	ENST00000272427.6	37	c.506	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556585	0.45487	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99571	-6.19;-6.19	5.39	3.48	0.39840	.	0.109670	0.64402	D	0.000010	D	0.98723	0.9571	M	0.70275	2.135	0.48830	D	0.999716	B;P	0.35745	0.019;0.518	B;B	0.41619	0.017;0.361	D	0.97755	1.0217	10	0.19147	T	0.46	.	9.5096	0.39069	0.0802:0.1453:0.7745:0.0	.	169;169	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	N	169	ENSP00000272427:T169N;ENSP00000386698:T169N	ENSP00000272427:T169N	T	-	2	0	EXOC6B	72798903	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	2.341000	0.43983	2.506000	0.84524	0.563000	0.77884	ACC	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	-	0.00	58	0	G	XM_039570		72945395	-1	tier1	-	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.979	T
FAHD1	81889	genome.wustl.edu	37	16	1877560	1877560	+	Silent	SNP	C	C	T	rs142676593	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:1877560C>T	ENST00000427358.2	+	1	336	c.330C>T	c.(328-330)gaC>gaT	p.D110D	HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000397353.2_5'Flank|FAHD1_ENST00000382666.4_Silent_p.D110D|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Silent_p.D110D	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	110			D -> N (in dbSNP:rs3743853).			cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						ACGTGCAGGACGAGTGCAAGA	0.667																																																	0													33.0	32.0	32.0					16																	1877560		2199	4300	6499	SO:0001819	synonymous_variant	0			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 36"""	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.330C>T	16.37:g.1877560C>T			B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Silent	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.D110	ENST00000427358.2	37	c.330	CCDS10448.1	16																																																																																			FAHD1	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000180185		0.667	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD1	HGNC	protein_coding	OTTHUMT00000250550.2	-	0.00	65	0	C	NM_001018104		1877560	+1	tier1	-	no_errors	ENST00000382666	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.998	T
FAM135B	51059	genome.wustl.edu	37	8	139164275	139164275	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:139164275G>T	ENST00000395297.1	-	13	2613	c.2443C>A	c.(2443-2445)Ctt>Att	p.L815I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	815										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACCACAAAGTTGAGAGCAA	0.527										HNSCC(54;0.14)																																							0													71.0	67.0	69.0					8																	139164275		2203	4300	6503	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2443C>A	8.37:g.139164275G>T	ENSP00000378710:p.Leu815Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L815I	ENST00000395297.1	37	c.2443	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854661	0.17106	.	.	ENSG00000147724	ENST00000395297	T	0.14516	2.5	5.39	1.4	0.22301	.	1.082460	0.07002	N	0.823542	T	0.09555	0.0235	N	0.24115	0.695	0.09310	N	1	P;P;B	0.36535	0.557;0.557;0.148	B;B;B	0.38616	0.277;0.219;0.04	T	0.38067	-0.9678	10	0.19147	T	0.46	-0.0836	5.4074	0.16328	0.2504:0.0:0.5967:0.153	.	815;815;815	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	I	815	ENSP00000378710:L815I	ENSP00000276737:L815I	L	-	1	0	FAM135B	139233457	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.980000	0.29513	0.379000	0.24794	0.655000	0.94253	CTT	FAM135B	-	NULL	ENSG00000147724		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	47	0	G	NM_015912		139164275	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.000	T
FAM13A	10144	genome.wustl.edu	37	4	89649410	89649411	+	3'UTR	INS	-	-	TG	rs150707965|rs140652030	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:89649410_89649411insTG	ENST00000264344.5	-	0	3552_3553				FAM13A_ENST00000511976.1_3'UTR|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000508369.1_3'UTR|FAM13A_ENST00000395002.2_3'UTR|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000503556.1_3'UTR|FAM13A_ENST00000513837.1_3'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGCTCCACTACtgtgtgtgtgt	0.431																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.*274->CA	4.37:g.89649419_89649420dupTG			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	RNA	INS	-	NULL	ENST00000264344.5	37	NULL	CCDS34029.1	4																																																																																			FAM13A-AS1	-	-	ENSG00000248019		0.431	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A-AS1	HGNC	protein_coding	OTTHUMT00000363371.1		0.00	27	0	-			89649411	+1	tier1		no_errors	ENST00000500765	ensembl	human	known	74_37	rna	7.14	26	2	INS	0.000:0.000	TG
FAM184A	79632	genome.wustl.edu	37	6	119345780	119345780	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:119345780T>C	ENST00000338891.7	-	2	801	c.358A>G	c.(358-360)Aaa>Gaa	p.K120E	FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.K120E|FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_5'UTR	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	120						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCTTCATTTTTATGTGATCT	0.373																																																	0													91.0	83.0	85.0					6																	119345780		1842	4093	5935	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.358A>G	6.37:g.119345780T>C	ENSP00000342604:p.Lys120Glu		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.K120E	ENST00000338891.7	37	c.358	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290883	0.59976	.	.	ENSG00000111879	ENST00000338891;ENST00000521531	T;T	0.29142	1.58;1.58	5.82	5.82	0.92795	.	0.127232	0.49305	D	0.000142	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.31475	-0.9942	10	0.46703	T	0.11	-27.5996	16.1814	0.81903	0.0:0.0:0.0:1.0	.	120	Q8NB25	F184A_HUMAN	E	120	ENSP00000342604:K120E;ENSP00000430442:K120E	ENSP00000342604:K120E	K	-	1	0	FAM184A	119387479	1.000000	0.71417	0.946000	0.38457	0.920000	0.55202	2.972000	0.49256	2.234000	0.73211	0.533000	0.62120	AAA	FAM184A	-	NULL	ENSG00000111879		0.373	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3		0.00	43	0	T	NM_024581		119345780	-1			no_errors	ENST00000338891	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	C
FAM205A	259308	genome.wustl.edu	37	9	34723763	34723763	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:34723763G>T	ENST00000378788.3	-	4	3513	c.3474C>A	c.(3472-3474)gcC>gcA	p.A1158A		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	1158						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						ACACAGTCTGGGCATTCTCAG	0.532																																																	0													93.0	71.0	77.0					9																	34723763		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.3474C>A	9.37:g.34723763G>T			A8MVW7	Silent	SNP	NULL	p.A1158	ENST00000378788.3	37	c.3474	CCDS55305.1	9																																																																																			FAM205A	-	NULL	ENSG00000205108		0.532	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2		0.00	88	0	G	NM_001141917		34723763	-1			no_errors	ENST00000378788	ensembl	human	novel	74_37	silent	5.62	84	5	SNP	0.019	T
FBXW11	23291	genome.wustl.edu	37	5	171305017	171305017	+	Silent	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:171305017C>A	ENST00000265094.5	-	7	1043	c.906G>T	c.(904-906)gtG>gtT	p.V302V	FBXW11_ENST00000393802.2_Silent_p.V268V|FBXW11_ENST00000296933.6_Silent_p.V289V|FBXW11_ENST00000425623.2_Silent_p.V270V|FBXW11_ENST00000522891.1_5'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	302					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.V289V(1)|p.V302V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTCACCTCACCGTAGAAT	0.458																																																	2	Substitution - coding silent(2)	lung(2)											109.0	94.0	99.0					5																	171305017		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.906G>T	5.37:g.171305017C>A			B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V302	ENST00000265094.5	37	c.906	CCDS34289.1	5																																																																																			FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000072803		0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1		0.00	49	0	C	NM_012300		171305017	-1			no_errors	ENST00000265094	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	A
FGFR4	2264	genome.wustl.edu	37	5	176518014	176518014	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:176518014G>A	ENST00000292408.4	+	5	757	c.512G>A	c.(511-513)cGc>cAc	p.R171H	FGFR4_ENST00000393648.2_Missense_Mutation_p.R171H|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171H|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171H|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GTCAAGTTCCGCTGTCCAGCT	0.617										TSP Lung(9;0.080)																																							0													91.0	73.0	79.0					5																	176518014		2203	4300	6503	SO:0001583	missense	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.512G>A	5.37:g.176518014G>A	ENSP00000292408:p.Arg171His		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R171H	ENST00000292408.4	37	c.512	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745661	0.89663	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	L	0.28115	0.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.996;0.999	T	0.75569	-0.3272	10	0.52906	T	0.07	.	17.5207	0.87786	0.0:0.0:1.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	H	171;171;171;171;171;171;283	ENSP00000292408:R171H;ENSP00000424905:R171H;ENSP00000377259:R171H;ENSP00000424960:R171H;ENSP00000292410:R171H;ENSP00000377254:R171H	ENSP00000292408:R171H	R	+	2	0	FGFR4	176450620	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.504000	0.66968	2.470000	0.83445	0.561000	0.74099	CGC	FGFR4	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160867		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	-	0.00	45	0	G			176518014	+1	tier1	-	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216249666	216249666	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:216249666G>A	ENST00000359671.1	-	28	4638	c.4373C>T	c.(4372-4374)gCt>gTt	p.A1458V	FN1_ENST00000356005.4_Missense_Mutation_p.A1458V|FN1_ENST00000345488.5_Missense_Mutation_p.A1458V|FN1_ENST00000421182.1_Missense_Mutation_p.A1458V|FN1_ENST00000446046.1_Missense_Mutation_p.A1458V|FN1_ENST00000354785.4_Missense_Mutation_p.A1549V|FN1_ENST00000443816.1_Missense_Mutation_p.A1458V|FN1_ENST00000432072.2_Missense_Mutation_p.A1549V|FN1_ENST00000336916.4_Missense_Mutation_p.A1458V|FN1_ENST00000346544.3_Missense_Mutation_p.A1458V|FN1_ENST00000357009.2_Missense_Mutation_p.A1458V|FN1_ENST00000323926.6_Missense_Mutation_p.A1549V|FN1_ENST00000357867.4_Missense_Mutation_p.A1458V|FN1_ENST00000490833.1_5'Flank			P02751	FINC_HUMAN	fibronectin 1	1458	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGGGGTCGCAGCAACAACTTC	0.438																																																	0													58.0	59.0	58.0					2																	216249666		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4373C>T	2.37:g.216249666G>A	ENSP00000352696:p.Ala1458Val		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.A1549V	ENST00000359671.1	37	c.4646		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977940	0.74360	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	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	6.02	6.02	0.97574	.	0.165377	0.42682	D	0.000673	T	0.66157	0.2761	L	0.38953	1.18	0.22034	N	0.999408	D;B;D;D;D;B;P;D;D;P	0.71674	0.989;0.396;0.978;0.989;0.974;0.183;0.949;0.996;0.998;0.712	P;B;P;P;P;B;P;D;D;B	0.70716	0.646;0.108;0.545;0.631;0.681;0.039;0.475;0.97;0.97;0.204	T	0.60156	-0.7318	10	0.59425	D	0.04	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1549;1549;1458;1458;1458;1458;1459;1458;1458;1549	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1458;1549;1458;1458;1549;1459;1458;1458;1458;1458;1458;1458;1549;1458;265	ENSP00000394423:A1458V;ENSP00000323534:A1549V;ENSP00000338200:A1458V;ENSP00000350534:A1458V;ENSP00000346839:A1549V;ENSP00000352696:A1458V;ENSP00000265312:A1458V;ENSP00000273049:A1458V;ENSP00000349509:A1458V;ENSP00000410422:A1458V;ENSP00000415018:A1458V;ENSP00000399538:A1549V;ENSP00000348285:A1458V;ENSP00000416139:A265V	ENSP00000265313:A1459V	A	-	2	0	FN1	215957911	0.993000	0.37304	0.361000	0.25849	0.479000	0.33129	4.290000	0.59019	2.865000	0.98341	0.655000	0.94253	GCT	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.438	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0.00	65	0	G	NM_212476		216249666	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.802	A
FTHL17	53940	genome.wustl.edu	37	X	31090038	31090038	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:31090038C>T	ENST00000359202.3	-	1	132	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	11	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGTCGTACTTCTGGCGCACCT	0.647																																																	0													45.0	37.0	40.0					X																	31090038		2193	4286	6479	SO:0001819	synonymous_variant	0			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.33G>A	X.37:g.31090038C>T			Q6NT24|Q6NTE2	Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.Q11	ENST00000359202.3	37	c.33	CCDS14227.1	X																																																																																			FTHL17	-	superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000132446		0.647	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	-	0.00	14	0	C	NM_031894		31090038	-1	tier1	-	no_errors	ENST00000359202	ensembl	human	known	74_37	silent	54.55	5	6	SNP	0.987	T
GABRB1	2560	genome.wustl.edu	37	4	47427817	47427817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:47427817C>T	ENST00000295454.3	+	9	1499	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q333*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	403					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGCCAGCATCCAGTACCGCAA	0.672																																																	0													42.0	49.0	46.0					4																	47427817		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1207C>T	4.37:g.47427817C>T	ENSP00000295454:p.Gln403*		B2R6U7|D6REL3|Q16166|Q8TBK3	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Q403*	ENST00000295454.3	37	c.1207	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.944190	0.97128	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	.	.	.	5.38	5.38	0.77491	.	0.318671	0.30051	N	0.010525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-4.9774	19.3205	0.94236	0.0:1.0:0.0:0.0	.	.	.	.	X	403;333	.	ENSP00000295454:Q403X	Q	+	1	0	GABRB1	47122574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.830000	0.69324	2.803000	0.96430	0.650000	0.86243	CAG	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.672	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0.00	60	0	C			47427817	+1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	nonsense	12.50	42	6	SNP	1.000	T
GP1BA	2811	genome.wustl.edu	37	17	4837184	4837184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:4837184delG	ENST00000329125.5	+	2	1360	c.1285delG	c.(1285-1287)gagfs	p.E429fs		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	429	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						gcccacctcagagcccgcccc	0.741																																																	0										12,2990		2,8,1491	6.0	6.0	6.0			-5.9	0.0	17	dbSNP_129	6	51,6799		8,35,3382	no	frameshift	GP1BA	NM_000173.5		10,43,4873	A1A1,A1R,RR		0.7445,0.3997,0.6395			4837184	63,9789	1567	3584	5151	SO:0001589	frameshift_variant	0				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1285delG	17.37:g.4837184delG	ENSP00000329380:p.Glu429fs		E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E429fs	ENST00000329125.5	37	c.1285	CCDS54068.1	17																																																																																			GP1BA	-	NULL	ENSG00000185245		0.741	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1		0.00	20	0	G			4837184	+1	tier1		no_errors	ENST00000329125	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.000	-
GRB14	2888	genome.wustl.edu	37	2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																																	2	Deletion - Frameshift(2)	ovary(1)|breast(1)																																								SO:0001589	frameshift_variant	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.H297fs	ENST00000263915.3	37	c.892_891	CCDS2222.1	2																																																																																			GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115290		0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2		0.00	63	0	-			165365288	-1	tier1		no_errors	ENST00000263915	ensembl	human	known	74_37	frame_shift_ins	9.26	49	5	INS	0.105:0.015	T
GRHL2	79977	genome.wustl.edu	37	8	102555584	102555584	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:102555584G>A	ENST00000251808.3	+	2	474	c.136G>A	c.(136-138)Gca>Aca	p.A46T	GRHL2_ENST00000395927.1_Missense_Mutation_p.A30T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	46	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A46T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCCCCTGACAGCAGCCACCAA	0.552																																																	1	Substitution - Missense(1)	lung(1)											122.0	120.0	120.0					8																	102555584		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.136G>A	8.37:g.102555584G>A	ENSP00000251808:p.Ala46Thr		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.A46T	ENST00000251808.3	37	c.136	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.228611	0.95173	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.58358	0.34;0.34	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.78089	-0.2340	10	0.87932	D	0	-24.238	20.1496	0.98084	0.0:0.0:1.0:0.0	.	46;46;46	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	T	46;30;46	ENSP00000251808:A46T;ENSP00000379260:A30T	ENSP00000251808:A46T	A	+	1	0	GRHL2	102624760	1.000000	0.71417	0.688000	0.30117	0.625000	0.37756	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GCA	GRHL2	-	NULL	ENSG00000083307		0.552	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1		0.00	44	0	G	NM_024915		102555584	+1			no_errors	ENST00000251808	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48917261	48917261	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:48917261A>G	ENST00000263269.3	+	4	1187	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCATGAACATCACGTGGGA	0.587																																																	0													107.0	84.0	92.0					19																	48917261		2203	4300	6503	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1099A>G	19.37:g.48917261A>G	ENSP00000263269:p.Ile367Val			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I367V	ENST00000263269.3	37	c.1099	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	A	1.055	-0.674676	0.03378	.	.	ENSG00000105464	ENST00000263269	T	0.25912	1.77	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.11154	0.105	0.37886	D	0.930561	B	0.17268	0.021	B	0.12837	0.008	T	0.14868	-1.0457	10	0.02654	T	1	.	8.0108	0.30353	0.9022:0.0:0.0978:0.0	.	367	O15399	NMDE4_HUMAN	V	367	ENSP00000263269:I367V	ENSP00000263269:I367V	I	+	1	0	GRIN2D	53609073	0.964000	0.33143	0.999000	0.59377	0.992000	0.81027	1.923000	0.40055	1.915000	0.55452	0.459000	0.35465	ATC	GRIN2D	-	superfamily_Peripla_BP_I	ENSG00000105464		0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	-	0.00	49	0	A			48917261	+1	tier1	-	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G
GYG2	8908	genome.wustl.edu	37	X	2777906	2777906	+	Missense_Mutation	SNP	G	G	A	rs148243530		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:2777906G>A	ENST00000381163.3	+	8	1012	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	GYG2_ENST00000338623.5_Missense_Mutation_p.V244I|GYG2_ENST00000542787.1_Missense_Mutation_p.V244I|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.V213I	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	244					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCAAAGGTCGTCCACTTTTT	0.507																																																	0													67.0	56.0	59.0					X																	2777906		2203	4298	6501	SO:0001583	missense	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.730G>A	X.37:g.2777906G>A	ENSP00000370555:p.Val244Ile		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.V244I	ENST00000381163.3	37	c.730	CCDS14121.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.629898|2.629898	0.46944|0.46944	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	.|T;T;T;T	.|0.37235	.|1.21;1.21;1.21;1.21	3.73|3.73	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.51477	.|D	.|0.000095	T|T	0.43322|0.43322	0.1242|0.1242	L|L	0.35593|0.35593	1.075|1.075	0.42929|0.42929	D|D	0.994319|0.994319	.|P;D;P;P;D;D	.|0.58620	.|0.83;0.983;0.851;0.859;0.965;0.972	.|B;P;B;B;P;P	.|0.57960	.|0.217;0.606;0.089;0.324;0.606;0.83	T|T	0.40831|0.40831	-0.9542|-0.9542	5|10	.|0.46703	.|T	.|0.11	.|.	14.936|14.936	0.70954|0.70954	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|244;244;204;213;213;244	.|O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;.;GLYG2_HUMAN	H|I	62|213;244;244;244	.|ENSP00000381786:V213I;ENSP00000370555:V244I;ENSP00000341273:V244I;ENSP00000446092:V244I	.|ENSP00000341273:V244I	R|V	+|+	2|1	0|0	GYG2|GYG2	2787906|2787906	1.000000|1.000000	0.71417|0.71417	0.300000|0.300000	0.25030|0.25030	0.046000|0.046000	0.14306|0.14306	4.082000|4.082000	0.57635|0.57635	1.500000|1.500000	0.48636|0.48636	0.529000|0.529000	0.55759|0.55759	CGT|GTC	GYG2	-	pfam_Glyco_trans_8	ENSG00000056998		0.507	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	-	0.00	72	0	G	NM_003918		2777906	+1	tier1	-	no_errors	ENST00000381163	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.999	A
TREX2	11219	genome.wustl.edu	37	X	152721028	152721028	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs201262645		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:152721028G>A	ENST00000334497.2	-	0	931				HAUS7_ENST00000370212.3_Missense_Mutation_p.T311M|TREX2_ENST00000330912.2_De_novo_Start_InFrame|HAUS7_ENST00000370211.4_Missense_Mutation_p.T311M|HAUS7_ENST00000421080.2_Missense_Mutation_p.R133C|TREX2_ENST00000370232.1_De_novo_Start_OutOfFrame|TREX2_ENST00000338525.2_De_novo_Start_OutOfFrame|HAUS7_ENST00000484394.1_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2						DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTCTGGTGCGTGGCCTGGAT	0.607								Editing and processing nucleases																																									0													93.0	70.0	78.0					X																	152721028		2203	4298	6501			0			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.-211C>T	X.37:g.152721028G>A			Q45F08|Q9UN77	Missense_Mutation	SNP	NULL	p.T311M	ENST00000334497.2	37	c.932		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220968|2.220968	0.39201|0.39201	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000435662;ENST00000421080|ENST00000370211;ENST00000370219;ENST00000370212	.|T;T;T	.|0.24350	.|1.86;1.86;1.86	4.99|4.99	3.84|3.84	0.44239|0.44239	.|.	.|0.199239	.|0.40818	.|N	.|0.001004	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D;D	.|0.64830	.|0.957;0.994	.|B;P	.|0.45913	.|0.381;0.497	T|T	0.06534|0.06534	-1.0821|-1.0821	6|10	0.87932|0.87932	D|D	0|0	-26.6999|-26.6999	6.3655|6.3655	0.21453|0.21453	0.8811:0.0:0.1189:0.0|0.8811:0.0:0.1189:0.0	.|.	.|311;311	.|Q99871;Q99871-2	.|HAUS7_HUMAN;.	C|M	95;133|301;311;311	.|ENSP00000359230:T301M;ENSP00000359239:T311M;ENSP00000359231:T311M	ENSP00000395447:R133C|ENSP00000359230:T301M	R|T	-|-	1|2	0|0	HAUS7|HAUS7	152374222|152374222	0.031000|0.031000	0.19500|0.19500	0.012000|0.012000	0.15200|0.15200	0.617000|0.617000	0.37484|0.37484	1.943000|1.943000	0.40253|0.40253	0.695000|0.695000	0.31675|0.31675	0.292000|0.292000	0.19580|0.19580	CGC|ACG	HAUS7	-	NULL	ENSG00000213397		0.607	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060966.1	-	0.00	43	0	G	NM_080701		152721028	-1	tier1	rs201262645	no_errors	ENST00000370212	ensembl	human	known	74_37	missense	72.92	12	35	SNP	0.052	A
HECTD4	283450	genome.wustl.edu	37	12	112641530	112641530	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:112641530G>A	ENST00000430131.2	-	53	8195	c.7050C>T	c.(7048-7050)agC>agT	p.S2350S	HECTD4_ENST00000550722.1_Silent_p.S2626S|HECTD4_ENST00000377560.5_Silent_p.S2600S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2350					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)										CAACAGCACTGCTGGCTACAT	0.478																																																	0													62.0	59.0	60.0					12																	112641530		1875	4114	5989	SO:0001819	synonymous_variant	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.7050C>T	12.37:g.112641530G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S2600	ENST00000430131.2	37	c.7800		12	.	.	.	.	.	.	.	.	.	.	G	5.297	0.240179	0.10023	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	4.35	0.52113	.	.	.	.	.	T	0.59445	0.2194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55585	-0.8118	4	.	.	.	.	9.1497	0.36955	0.1286:0.1201:0.7513:0.0	.	.	.	.	V	517	.	.	A	-	2	0	C12orf51	111125913	1.000000	0.71417	0.992000	0.48379	0.511000	0.34104	3.142000	0.50601	0.922000	0.37019	-0.137000	0.14449	GCA	HECTD4	-	NULL	ENSG00000173064		0.478	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	50	0	G	NM_173813		112641530	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.996	A
SGCA	6442	genome.wustl.edu	37	17	48249043	48249043	+	Intron	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:48249043C>A	ENST00000262018.3	+	8	1019				SGCA_ENST00000513942.1_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000344627.6_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)						muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGCTTCTTGCCCAGGGTGAA	0.622																																																	0																																										SO:0001627	intron_variant	0			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.983+1016C>A	17.37:g.48249043C>A			A6NEB8|A8K3K7|Q13710|Q13712	RNA	SNP	-	NULL	ENST00000262018.3	37	NULL	CCDS32679.1	17																																																																																			HILS1	-	-	ENSG00000188662		0.622	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILS1	HGNC	protein_coding	OTTHUMT00000366841.1	-	0.00	53	0	C	NM_000023		48249043	-1	tier1	-	no_errors	ENST00000504307	ensembl	human	known	74_37	rna	21.19	93	25	SNP	0.887	A
HIST1H2BG	8339	genome.wustl.edu	37	6	26216766	26216766	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:26216766C>T	ENST00000244601.3	-	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	36					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GAGTAGCTCTCCTTACGACTG	0.517																																																	0													248.0	217.0	227.0					6																	26216766		2203	4300	6503	SO:0001583	missense	0			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.106G>A	6.37:g.26216766C>T	ENSP00000244601:p.Glu36Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E36K	ENST00000244601.3	37	c.106	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	24.2	4.500000	0.85176	.	.	ENSG00000187990	ENST00000244601	T	0.22743	1.94	4.0	4.0	0.46444	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.40909	D	0.98421	.	.	.	.	.	.	T	0.13683	-1.0500	6	0.72032	D	0.01	.	15.6296	0.76893	0.0:1.0:0.0:0.0	.	.	.	.	K	36	ENSP00000244601:E36K	ENSP00000244601:E36K	E	-	1	0	HIST1H2BG	26324745	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.473000	0.81007	2.222000	0.72286	0.655000	0.94253	GAG	HIST1H2BG	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B	ENSG00000187990		0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	-	0.00	100	0	C	NM_003518		26216766	-1	tier1	-	no_errors	ENST00000244601	ensembl	human	known	74_37	missense	17.78	74	16	SNP	1.000	T
HMGXB4	10042	genome.wustl.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																																	0																																										SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K391fs	ENST00000216106.5	37	c.1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_box_dom	ENSG00000100281		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2		0.00	32	0	A	NM_005487		35661544	+1	tier1		no_errors	ENST00000216106	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-
HSD17B14	51171	genome.wustl.edu	37	19	49316483	49316483	+	Silent	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:49316483C>A	ENST00000263278.4	-	9	1028	c.762G>T	c.(760-762)ggG>ggT	p.G254G	BCAT2_ENST00000601496.1_5'Flank|HSD17B14_ENST00000599157.1_Silent_p.G230G|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000402551.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	254					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TGGCCTTGCACCCGTACCCCA	0.642																																																	0													24.0	24.0	24.0					19																	49316483		2203	4296	6499	SO:0001819	synonymous_variant	0			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.762G>T	19.37:g.49316483C>A			Q9UKU3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.G254	ENST00000263278.4	37	c.762	CCDS12736.1	19																																																																																			HSD17B14	-	NULL	ENSG00000087076		0.642	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	-	0.00	41	0	C	NM_016246		49316483	-1	tier1	-	no_errors	ENST00000263278	ensembl	human	known	74_37	silent	59.62	21	31	SNP	0.140	A
IKZF1	10320	genome.wustl.edu	37	7	50467846	50467846	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:50467846T>A	ENST00000331340.3	+	8	1236	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T	IKZF1_ENST00000346667.4_Missense_Mutation_p.S131T|IKZF1_ENST00000439701.1_Missense_Mutation_p.S319T|IKZF1_ENST00000359197.5_Missense_Mutation_p.S319T|IKZF1_ENST00000357364.4_Missense_Mutation_p.S274T|IKZF1_ENST00000343574.5_Missense_Mutation_p.S274T|IKZF1_ENST00000438033.1_Missense_Mutation_p.S274T|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.S218T	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	361					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCCCGCGCTCCAACCACTC	0.711			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											8.0	12.0	11.0					7																	50467846		1972	4083	6055	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1081T>A	7.37:g.50467846T>A	ENSP00000331614:p.Ser361Thr		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S361T	ENST00000331340.3	37	c.1081		7	.	.	.	.	.	.	.	.	.	.	T	4.846	0.157258	0.09236	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06294	4.71;3.32;3.41;4.43;3.46;3.4;3.32;3.41	5.38	-10.8	0.00216	.	0.834713	0.11403	N	0.567563	T	0.02380	0.0073	.	.	.	0.25133	N	0.990551	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.15484	0.013;0.0;0.004;0.004;0.004	T	0.28427	-1.0044	9	0.17369	T	0.5	-3.1727	4.8178	0.13376	0.1383:0.3458:0.3485:0.1675	.	274;131;274;319;361	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	T	131;274;319;218;274;361;274;319	ENSP00000340080:S131T;ENSP00000342750:S274T;ENSP00000352123:S319T;ENSP00000342485:S218T;ENSP00000349928:S274T;ENSP00000331614:S361T;ENSP00000396554:S274T;ENSP00000413025:S319T	ENSP00000331614:S361T	S	+	1	0	IKZF1	50435340	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.097000	0.03349	-3.495000	0.00152	-1.090000	0.02178	TCC	IKZF1	-	NULL	ENSG00000185811		0.711	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0.00	30	0	T	NM_006060		50467846	+1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.000	A
INF2	64423	genome.wustl.edu	37	14	105177441	105177442	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:105177441_105177442GC>TT	ENST00000392634.4	+	15	2448_2449	c.2336_2337GC>TT	c.(2335-2337)gGC>gTT	p.G779V	INF2_ENST00000330634.7_Missense_Mutation_p.G779V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	779	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GACGCCGACGGCTTCAAGATCA	0.663																																																	0																																										SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	Exception_encountered	14.37:g.105177441_105177442delinsTT	ENSP00000376410:p.Gly779Val		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation|Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.G779V|p.G779	ENST00000392634.4	37	c.2336|c.2337	CCDS9989.2	14																																																																																			INF2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000203485		0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0.00	28	0	G|C	NM_022489		105177441|105177442	+1			no_errors	ENST00000392634	ensembl	human	known	74_37	missense|silent	12.50	14|13	2	SNP	1.000|0.997	T
INSIG2	51141	genome.wustl.edu	37	2	118866114	118866114	+	3'UTR	SNP	T	T	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:118866114T>G	ENST00000245787.4	+	0	1100				INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CCTTTACATATTTGACTTAAA	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.*216T>G	2.37:g.118866114T>G			A8K5W8|Q8TBI8	RNA	SNP	-	NULL	ENST00000245787.4	37	NULL	CCDS2122.1	2																																																																																			INSIG2	-	-	ENSG00000125629		0.249	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	-	0.00	58	0	T	NM_016133		118866114	+1	tier1	-	no_errors	ENST00000471186	ensembl	human	known	74_37	rna	12.74	137	20	SNP	1.000	G
ISL2	64843	genome.wustl.edu	37	15	76630258	76630258	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:76630258C>T	ENST00000290759.4	+	2	358	c.198C>T	c.(196-198)tgC>tgT	p.C66C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	66	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACGAGACGTGCACGTGCTTCG	0.677																																					GBM(97;953 1391 16164 31496 36951)												0													55.0	40.0	45.0					15																	76630258		2197	4293	6490	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.198C>T	15.37:g.76630258C>T			B3KM37	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.C66	ENST00000290759.4	37	c.198	CCDS10290.1	15																																																																																			ISL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000159556		0.677	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	-	0.00	187	0	C			76630258	+1	tier1	-	no_errors	ENST00000290759	ensembl	human	known	74_37	silent	31.41	106	49	SNP	1.000	T
IREB2	3658	genome.wustl.edu	37	15	78758632	78758632	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:78758632A>T	ENST00000258886.8	+	5	579	c.430A>T	c.(430-432)Aat>Tat	p.N144Y	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.N144Y	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	144					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAATGCACCAAATCCTGGAGG	0.433																																					NSCLC(200;764 2208 35157 49871 50830)												0													48.0	47.0	47.0					15																	78758632		2196	4293	6489	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.430A>T	15.37:g.78758632A>T	ENSP00000258886:p.Asn144Tyr		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.N144Y	ENST00000258886.8	37	c.430	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233779	0.79688	.	.	ENSG00000136381	ENST00000258886	T	0.19105	2.17	5.95	5.95	0.96441	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.131614	0.64402	D	0.000002	T	0.30823	0.0777	N	0.22421	0.69	0.58432	D	0.99999	D;D	0.61080	0.989;0.982	P;P	0.60236	0.832;0.871	T	0.05666	-1.0871	10	0.72032	D	0.01	-14.0108	16.4052	0.83662	1.0:0.0:0.0:0.0	.	144;144	P48200;Q8WVK6	IREB2_HUMAN;.	Y	144	ENSP00000258886:N144Y	ENSP00000258886:N144Y	N	+	1	0	IREB2	76545687	1.000000	0.71417	0.991000	0.47740	0.914000	0.54420	7.723000	0.84788	2.279000	0.76181	0.402000	0.26972	AAT	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.433	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0.00	48	0	A	NM_004136		78758632	+1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.999	T
KCNK13	56659	genome.wustl.edu	37	14	90650686	90650686	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:90650686G>A	ENST00000282146.4	+	2	1007	c.566G>A	c.(565-567)gGc>gAc	p.G189D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	189					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGCCTGGCCGGCTGGAAGCCC	0.627																																																	0													121.0	106.0	111.0					14																	90650686		2203	4300	6503	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.566G>A	14.37:g.90650686G>A	ENSP00000282146:p.Gly189Asp		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.G189D	ENST00000282146.4	37	c.566	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766064	0.31228	.	.	ENSG00000152315	ENST00000282146	T	0.12879	2.64	5.31	2.36	0.29203	.	0.396131	0.18615	N	0.136048	T	0.12390	0.0301	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.10847	-1.0612	10	0.10636	T	0.68	.	10.5518	0.45092	0.069:0.249:0.682:0.0	.	189	Q9HB14	KCNKD_HUMAN	D	189	ENSP00000282146:G189D	ENSP00000282146:G189D	G	+	2	0	KCNK13	89720439	1.000000	0.71417	0.889000	0.34880	0.478000	0.33099	4.843000	0.62838	0.189000	0.20188	0.655000	0.94253	GGC	KCNK13	-	NULL	ENSG00000152315		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0.00	44	0	G	NM_022054		90650686	+1			no_errors	ENST00000282146	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A
KIAA0895	23366	genome.wustl.edu	37	7	36406352	36406352	+	Intron	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:36406352C>T	ENST00000297063.6	-	3	229				KIAA0895_ENST00000415803.2_Missense_Mutation_p.E34K|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000317020.6_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.E34K|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000436884.1_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895											breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGATTTCTCTCTTCCCTCCAC	0.572																																																	0																																										SO:0001627	intron_variant	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.179-9153G>A	7.37:g.36406352C>T			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.E34K	ENST00000297063.6	37	c.100	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575909	0.65878	.	.	ENSG00000164542	ENST00000338533;ENST00000415803	.	.	.	2.84	1.81	0.25067	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.09310	N	1	B;B	0.24920	0.114;0.009	B;B	0.17098	0.017;0.017	T	0.16988	-1.0384	7	0.26408	T	0.33	.	6.3519	0.21381	0.0:0.8191:0.0:0.1809	.	34;34	Q8NCT3-4;Q8NCT3-2	.;.	K	34	.	ENSP00000344805:E34K	E	-	1	0	KIAA0895	36372877	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-1.082000	0.03400	0.597000	0.29811	0.591000	0.81541	GAG	KIAA0895	-	NULL	ENSG00000164542		0.572	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0.00	55	0	C	NM_015314		36406352	-1	tier1	-	no_errors	ENST00000338533	ensembl	human	known	74_37	missense	15.52	49	9	SNP	0.002	T
KLRC4	8302	genome.wustl.edu	37	12	10562135	10562135	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:10562135C>T	ENST00000309384.1	-	1	221	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.G5D	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	14					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GGGTCCTGGGCCAGACTCACT	0.408																																																	0													197.0	190.0	192.0					12																	10562135		2203	4300	6503	SO:0001583	missense	0			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.40G>A	12.37:g.10562135C>T	ENSP00000310216:p.Ala14Thr		O60851	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.A14T	ENST00000309384.1	37	c.40	CCDS8624.1	12	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645993	0.47258	.	.	ENSG00000183542	ENST00000309384	T	0.09255	3.0	4.0	-4.77	0.03219	.	2.086650	0.01802	N	0.032926	T	0.30823	0.0777	M	0.82716	2.605	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.49485	-0.8935	10	0.51188	T	0.08	.	5.9224	0.19091	0.0:0.1879:0.4204:0.3917	.	14	O43908	NKG2F_HUMAN	T	14	ENSP00000310216:A14T	ENSP00000310216:A14T	A	-	1	0	KLRC4	10453402	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.264000	0.02847	-0.946000	0.03677	-0.515000	0.04445	GCC	KLRC4	-	NULL	ENSG00000183542		0.408	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRC4	HGNC	protein_coding	OTTHUMT00000400108.1	-	0.00	162	0	C	NM_013431		10562135	-1	tier1	-	no_errors	ENST00000309384	ensembl	human	known	74_37	missense	44.03	75	59	SNP	0.000	T
KRT1	3848	genome.wustl.edu	37	12	53069050	53069050	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:53069050C>T	ENST00000252244.3	-	9	1920	c.1862G>A	c.(1861-1863)gGg>gAg	p.G621E		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	621	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTGACACCCCCAGAGCTGGA	0.612																																																	0													58.0	68.0	65.0					12																	53069050		2203	4300	6503	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1862G>A	12.37:g.53069050C>T	ENSP00000252244:p.Gly621Glu		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G621E	ENST00000252244.3	37	c.1862	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551461	0.45487	.	.	ENSG00000167768	ENST00000252244	D	0.95980	-3.87	4.32	3.41	0.39046	.	.	.	.	.	D	0.86764	0.6011	N	0.08118	0	0.33863	D	0.634079	B	0.27997	0.197	B	0.24269	0.052	D	0.86296	0.1677	9	0.48119	T	0.1	.	5.5154	0.16904	0.0:0.6462:0.1736:0.1802	.	621	P04264	K2C1_HUMAN	E	621	ENSP00000252244:G621E	ENSP00000252244:G621E	G	-	2	0	KRT1	51355317	0.392000	0.25229	0.987000	0.45799	0.883000	0.51084	1.973000	0.40550	2.134000	0.65973	0.313000	0.20887	GGG	KRT1	-	NULL	ENSG00000167768		0.612	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0.00	30	0	C	NM_006121		53069050	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	63.16	7	12	SNP	0.815	T
LAP3	51056	genome.wustl.edu	37	4	17590491	17590491	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:17590491G>A	ENST00000226299.4	+	7	1028	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.A221T|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	252					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.A252T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CCTCAGTGTGGCCAAAGGATC	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											108.0	106.0	107.0					4																	17590491		2203	4300	6503	SO:0001583	missense	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.754G>A	4.37:g.17590491G>A	ENSP00000226299:p.Ala252Thr		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.A252T	ENST00000226299.4	37	c.754	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892764	0.72524	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.47869	0.83;0.86	5.12	5.12	0.69794	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.047671	0.85682	D	0.000000	T	0.53110	0.1776	L	0.48260	1.515	0.52099	D	0.999943	P	0.48089	0.905	P	0.49502	0.613	T	0.51379	-0.8713	10	0.41790	T	0.15	-23.4311	18.9237	0.92536	0.0:0.0:1.0:0.0	.	252	P28838	AMPL_HUMAN	T	252;86	ENSP00000226299:A252T;ENSP00000424724:A86T	ENSP00000226299:A252T	A	+	1	0	LAP3	17199589	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.979000	0.63806	2.534000	0.85438	0.557000	0.71058	GCC	LAP3	-	pfam_Peptidase_M17_C	ENSG00000002549		0.448	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	-	0.00	66	0	G			17590491	+1	tier1	-	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	A
GPR162	27239	genome.wustl.edu	37	12	6939135	6939135	+	IGR	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:6939135G>A	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602																																																	0													58.0	63.0	62.0					12																	6939135		1987	4159	6146	SO:0001628	intergenic_variant	0			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939135G>A			Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R203Q	ENST00000311268.3	37	c.608	CCDS8563.1	12	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908313	0.52333	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.57752	0.38;0.38	4.85	-0.966	0.10320	.	0.439392	0.25192	N	0.032445	T	0.40694	0.1127	.	.	.	0.09310	N	1	D;B	0.63046	0.992;0.0	P;B	0.45538	0.484;0.0	T	0.38845	-0.9642	9	0.38643	T	0.18	-4.5751	6.9396	0.24486	0.3833:0.1198:0.4969:0.0	.	204;227	Q8IVL6;Q13513	P3H3_HUMAN;.	Q	203;19	ENSP00000379951:R203Q;ENSP00000290510:R19Q	ENSP00000290510:R19Q	R	+	2	0	LEPREL2	6809396	0.004000	0.15560	0.052000	0.19188	0.919000	0.55068	0.217000	0.17603	-0.321000	0.08627	-0.458000	0.05436	CGG	LEPREL2	-	NULL	ENSG00000110811		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL2	HGNC	protein_coding	OTTHUMT00000399478.1	-	0.00	74	0	G	NM_019858		6939135	+1	tier1	-	no_errors	ENST00000396725	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.022	A
LIMA1	51474	genome.wustl.edu	37	12	50616162	50616162	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:50616162C>T	ENST00000341247.4	-	4	421	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LIMA1_ENST00000552823.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.R91Q|LIMA1_ENST00000552909.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	91					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GCTGCTGTTCCGTAGAGAGTC	0.517																																																	0													171.0	148.0	156.0					12																	50616162		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.272G>A	12.37:g.50616162C>T	ENSP00000340184:p.Arg91Gln		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R91Q	ENST00000341247.4	37	c.272	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	8.260	0.810959	0.16537	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.83992	-1.79;-1.05	5.53	-1.88	0.07713	.	0.877721	0.10046	N	0.722839	T	0.66167	0.2762	L	0.27053	0.805	0.25466	N	0.987877	B;B	0.22480	0.07;0.031	B;B	0.08055	0.003;0.003	T	0.49872	-0.8893	10	0.33940	T	0.23	.	3.2831	0.06922	0.1027:0.3567:0.1051:0.4355	.	100;91	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	Q	91	ENSP00000378400:R91Q;ENSP00000340184:R91Q	ENSP00000340184:R91Q	R	-	2	0	LIMA1	48902429	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	0.065000	0.14466	-0.277000	0.09193	0.655000	0.94253	CGG	LIMA1	-	NULL	ENSG00000050405		0.517	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0.00	25	0	C	NM_016357		50616162	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	73.33	8	22	SNP	0.000	T
LOR	4014	genome.wustl.edu	37	1	153233880	153233880	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:153233880C>T	ENST00000368742.3	+	2	512	c.455C>T	c.(454-456)tCg>tTg	p.S152L		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	152					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcggcTTCTCGGGCCAGGCG	0.786																																																	0													1.0	1.0	1.0					1																	153233880		454	1003	1457	SO:0001583	missense	0			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.455C>T	1.37:g.153233880C>T	ENSP00000357731:p.Ser152Leu		Q5T869|Q5XKF8	Missense_Mutation	SNP	NULL	p.S152L	ENST00000368742.3	37	c.455	CCDS30870.1	1	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829682	0.16749	.	.	ENSG00000203782	ENST00000368742;ENST00000392652	T	0.39056	1.1	3.66	1.53	0.23141	.	0.600408	0.12742	N	0.442984	T	0.24236	0.0587	L	0.36672	1.1	0.09310	N	1	D	0.61080	0.989	P	0.50192	0.634	T	0.04115	-1.0976	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.5837:0.4163:0.0	.	152	P23490	LORI_HUMAN	L	152	ENSP00000357731:S152L	ENSP00000357731:S152L	S	+	2	0	LOR	151500504	0.138000	0.22547	0.187000	0.23214	0.570000	0.35934	0.490000	0.22403	0.692000	0.31613	0.462000	0.41574	TCG	LOR	-	NULL	ENSG00000203782		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	HGNC	protein_coding	OTTHUMT00000039107.1	-	0.00	13	0	C	NM_000427		153233880	+1	tier1	-	no_errors	ENST00000368742	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.017	T
LPA	4018	genome.wustl.edu	37	6	160978445	160978445	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:160978445C>A	ENST00000316300.5	-	29	4834	c.4790G>T	c.(4789-4791)aGc>aTc	p.S1597I	LPA_ENST00000447678.1_Missense_Mutation_p.S1597I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4105	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCCTCCATGCTTGGAACTGG	0.458																																																	0													128.0	122.0	124.0					6																	160978445		1957	4184	6141	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4790G>T	6.37:g.160978445C>A	ENSP00000321334:p.Ser1597Ile		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.S1597I	ENST00000316300.5	37	c.4790	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858674	0.32791	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87412	-2.25;-2.25	2.39	2.39	0.29439	Kringle (1);	.	.	.	.	D	0.85500	0.5711	M	0.67953	2.075	0.09310	N	1	P	0.45531	0.86	P	0.55391	0.775	T	0.76307	-0.3007	9	0.72032	D	0.01	.	8.2461	0.31689	0.0:1.0:0.0:0.0	.	4105	P08519	APOA_HUMAN	I	1597	ENSP00000321334:S1597I;ENSP00000395608:S1597I	ENSP00000321334:S1597I	S	-	2	0	LPA	160898435	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.125000	0.15749	1.319000	0.45190	0.436000	0.28706	AGC	LPA	-	NULL	ENSG00000198670		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	96	0	C	NM_005577		160978445	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.003	A
LPHN3	23284	genome.wustl.edu	37	4	62599041	62599041	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:62599041G>T	ENST00000514591.1	+	7	1293	c.964G>T	c.(964-966)Gtg>Ttg	p.V322L	LPHN3_ENST00000508946.1_Missense_Mutation_p.V322L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V390L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V390L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V322L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V390L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V322L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V390L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V390L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V390L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V322L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V322L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V390L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	322	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AATTCTGTATGTGGTCAAATC	0.393																																																	0													107.0	96.0	100.0					4																	62599041		1928	4139	6067	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.964G>T	4.37:g.62599041G>T	ENSP00000422533:p.Val322Leu		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.V390L	ENST00000514591.1	37	c.1168	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034529	0.75617	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.87456	2.885	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.902	D;D;D	0.79108	0.992;0.992;0.927	D	0.96537	0.9397	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	322;390;322	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	322;322;390;390;322;322;322;322;322;390;390;390;322;322;322;390;390;322	ENSP00000423388:V322L;ENSP00000422533:V322L;ENSP00000423787:V390L;ENSP00000425033:V390L;ENSP00000424120:V322L;ENSP00000439831:V322L;ENSP00000421476:V390L;ENSP00000424030:V390L;ENSP00000421372:V390L;ENSP00000425201:V322L;ENSP00000423434:V322L;ENSP00000421627:V322L;ENSP00000420931:V390L;ENSP00000425884:V390L;ENSP00000424258:V322L	ENSP00000280009:V322L	V	+	1	0	LPHN3	62281636	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.471000	0.83476	0.557000	0.71058	GTG	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000150471		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1		0.00	37	0	G			62599041	+1			no_errors	ENST00000507625	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
LRRC8A	56262	genome.wustl.edu	37	9	131670459	131670459	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:131670459C>T	ENST00000259324.5	+	3	1539	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T339I|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T339I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	339					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCATGTATACACTGTGGTGG	0.562																																																	0													195.0	143.0	161.0					9																	131670459		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1016C>T	9.37:g.131670459C>T	ENSP00000259324:p.Thr339Ile		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T339I	ENST00000259324.5	37	c.1016	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405951	0.62288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.57436	0.4;0.4;0.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.41492	1.28	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.63427	-0.6640	10	0.87932	D	0	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	339	Q8IWT6	LRC8A_HUMAN	I	339	ENSP00000361682:T339I;ENSP00000361680:T339I;ENSP00000259324:T339I	ENSP00000259324:T339I	T	+	2	0	LRRC8A	130710280	1.000000	0.71417	0.983000	0.44433	0.911000	0.54048	7.818000	0.86416	2.526000	0.85167	0.462000	0.41574	ACA	LRRC8A	-	NULL	ENSG00000136802		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0.00	12	0	C	NM_019594		131670459	+1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
LRRIQ1	84125	genome.wustl.edu	37	12	85449564	85449564	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:85449564G>T	ENST00000393217.2	+	8	1054	c.993G>T	c.(991-993)aaG>aaT	p.K331N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	331	Glu-rich.							p.K331K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		tacgacaaaaggaggaagaaa	0.338																																																	2	Substitution - coding silent(2)	endometrium(2)											24.0	25.0	25.0					12																	85449564		2192	4277	6469	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.993G>T	12.37:g.85449564G>T	ENSP00000376910:p.Lys331Asn		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K331N	ENST00000393217.2	37	c.993	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	3.541	-0.093650	0.07053	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.56444	0.46	5.27	0.976	0.19727	.	0.943969	0.08849	N	0.884687	T	0.35828	0.0945	L	0.29908	0.895	0.09310	N	1	B;P	0.42409	0.201;0.779	B;B	0.33690	0.109;0.168	T	0.11991	-1.0565	10	0.51188	T	0.08	.	8.618	0.33845	0.4808:0.0:0.5192:0.0	.	331;306	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	331;306;331	ENSP00000376910:K331N	ENSP00000256007:K331N	K	+	3	2	LRRIQ1	83973695	0.070000	0.21116	0.140000	0.22221	0.122000	0.20287	0.166000	0.16583	-0.094000	0.12374	0.313000	0.20887	AAG	LRRIQ1	-	NULL	ENSG00000133640		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2		0.00	27	0	G	NM_032165		85449564	+1			no_errors	ENST00000393217	ensembl	human	known	74_37	missense	14.29	12	2	SNP	0.074	T
LRRIQ1	84125	genome.wustl.edu	37	12	85518212	85518212	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:85518212C>T	ENST00000393217.2	+	17	3983	c.3922C>T	c.(3922-3924)Ccc>Tcc	p.P1308S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1308										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGCAGTATTCCCACCATAAG	0.363																																																	0													166.0	183.0	177.0					12																	85518212		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3922C>T	12.37:g.85518212C>T	ENSP00000376910:p.Pro1308Ser		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.P1308S	ENST00000393217.2	37	c.3922	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	2.197	-0.383954	0.04966	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.46819	0.86	5.33	-2.7	0.06004	.	0.793987	0.11182	N	0.590834	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.006;0.006	T	0.12192	-1.0557	10	0.37606	T	0.19	.	0.4425	0.00488	0.2475:0.3017:0.1346:0.3162	.	1308;1283	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	1308;1283;1308	ENSP00000376910:P1308S	ENSP00000256007:P1308S	P	+	1	0	LRRIQ1	84042343	0.000000	0.05858	0.001000	0.08648	0.395000	0.30598	-0.365000	0.07573	-0.493000	0.06678	-0.282000	0.10007	CCC	LRRIQ1	-	NULL	ENSG00000133640		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	50	0	C	NM_032165		85518212	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	T
LZTR1	8216	genome.wustl.edu	37	22	21346071	21346071	+	Missense_Mutation	SNP	G	G	A	rs370315661		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:21346071G>A	ENST00000215739.8	+	9	1305	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LZTR1_ENST00000389355.3_Missense_Mutation_p.V297M|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	316					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGCTATGACGTGGACTTCCA	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.0																0								G	MET/VAL	1,4303		0,1,2151	45.0	36.0	39.0		946	5.1	1.0	22		39	0,8474		0,0,4237	no	missense	LZTR1	NM_006767.3	21	0,1,6388	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	316/841	21346071	1,12777	2152	4237	6389	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.946G>A	22.37:g.21346071G>A	ENSP00000215739:p.Val316Met		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V316M	ENST00000215739.8	37	c.946	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745089	0.89663	2.32E-4	0.0	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.78364	-1.17;-1.17	5.09	5.09	0.68999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	N	0.21583	0.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.999;1.0	D;D;D;D	0.72338	0.947;0.952;0.957;0.977	T	0.80271	-0.1452	10	0.38643	T	0.18	-33.7518	15.9929	0.80220	0.0:0.0:1.0:0.0	.	297;275;316;275	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	M	275;316;297	ENSP00000215739:V316M;ENSP00000374006:V297M	ENSP00000215739:V316M	V	+	1	0	LZTR1	19676071	1.000000	0.71417	0.976000	0.42696	0.916000	0.54674	9.396000	0.97270	2.363000	0.80096	0.462000	0.41574	GTG	LZTR1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000099949		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	58	0	G	NM_006767		21346071	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.999	A
MACF1	23499	genome.wustl.edu	37	1	39913530	39913530	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:39913530G>T	ENST00000372915.3	+	81	19712	c.19625G>T	c.(19624-19626)aGa>aTa	p.R6542I	MACF1_ENST00000361689.2_Missense_Mutation_p.R4584I|MACF1_ENST00000539005.1_Missense_Mutation_p.R4454I|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680I|MACF1_ENST00000564288.1_Missense_Mutation_p.R6643I|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584I|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086I|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6542					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4584T(1)|p.R5086T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448																																																	2	Substitution - Missense(2)	urinary_tract(2)											98.0	93.0	95.0					1																	39913530		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19625G>T	1.37:g.39913530G>T	ENSP00000362006:p.Arg6542Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R4584I	ENST00000372915.3	37	c.13751		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.405740|5.405740	0.96051|0.96051	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09;0.09;0.09	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.81254|0.81254	0.4784|0.4784	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.82692|0.82692	-0.0331|-0.0331	5|10	.|0.87932	.|D	.|0	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6542;4584	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	N|I	3587|4584;6542;4584;4584;4454;5086	.|ENSP00000439537:R4584I;ENSP00000362006:R6542I;ENSP00000354573:R4584I;ENSP00000313438:R4584I;ENSP00000444364:R4454I;ENSP00000289893:R5086I	.|ENSP00000289893:R5086I	K|R	+|+	3|2	2|0	MACF1|MACF1	39686117|39686117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	AAG|AGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	57	0	G	NM_033044		39913530	+1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
MADD	8567	genome.wustl.edu	37	11	47298299	47298299	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:47298299G>T	ENST00000311027.5	+	5	1145	c.980G>T	c.(979-981)cGa>cTa	p.R327L	MADD_ENST00000395344.3_Missense_Mutation_p.R327L|MADD_ENST00000402799.1_Missense_Mutation_p.R327L|MADD_ENST00000406482.1_Missense_Mutation_p.R327L|MADD_ENST00000342922.4_Missense_Mutation_p.R327L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.R327L|MADD_ENST00000407859.3_Missense_Mutation_p.R327L|MADD_ENST00000395336.3_Missense_Mutation_p.R327L|MADD_ENST00000349238.3_Missense_Mutation_p.R327L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTACAGTCCCGAGACTACAAT	0.453																																																	0													258.0	204.0	222.0					11																	47298299		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.980G>T	11.37:g.47298299G>T	ENSP00000310933:p.Arg327Leu			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R327L	ENST00000311027.5	37	c.980	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021982	0.75275	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.93	5.93	0.95920	DENN (3);	0.064498	0.64402	D	0.000007	T	0.28599	0.0708	L	0.42245	1.32	0.80722	D	1	D;D;D;B;B;B;B;D;D;D	0.89917	1.0;0.992;1.0;0.421;0.264;0.421;0.421;0.999;0.987;0.962	D;D;D;B;B;B;B;D;D;P	0.91635	0.999;0.96;0.999;0.425;0.425;0.329;0.329;0.997;0.934;0.829	T	0.00075	-1.2121	10	0.38643	T	0.18	-1.8269	20.3539	0.98825	0.0:0.0:1.0:0.0	.	327;327;327;327;327;327;327;327;327;327	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	327;327;105;327;327;327;327;327;327;327;327	ENSP00000343902:R327L;ENSP00000398167:R105L;ENSP00000385585:R327L;ENSP00000384435:R327L;ENSP00000304505:R327L;ENSP00000310933:R327L;ENSP00000384204:R327L;ENSP00000378753:R327L;ENSP00000378745:R327L;ENSP00000384287:R327L	ENSP00000310933:R327L	R	+	2	0	MADD	47254875	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CGA	MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000110514		0.453	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0.00	52	0	G			47298299	+1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
MAML2	84441	genome.wustl.edu	37	11	95825371	95825371	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:95825371C>T	ENST00000524717.1	-	2	3108	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	608					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgctgct	0.542			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													30.0	37.0	34.0					11																	95825371		2016	3986	6002	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1824G>A	11.37:g.95825371C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q608	ENST00000524717.1	37	c.1824	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0.00	48	0	C			95825371	-1			no_errors	ENST00000524717	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.002	T
MAP3K7	6885	genome.wustl.edu	37	6	91246115	91246115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:91246115C>A	ENST00000369329.3	-	13	1458	c.1297G>T	c.(1297-1299)Gga>Tga	p.G433*	MAP3K7_ENST00000369327.3_Nonsense_Mutation_p.G406*|MAP3K7_ENST00000369332.3_Nonsense_Mutation_p.G406*|MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.G433*|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Nonsense_Mutation_p.G87*	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	433					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.G406*(1)|p.G433*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTGGCTGTCCGTTGCCTTTA	0.363																																																	2	Substitution - Nonsense(2)	lung(2)											94.0	88.0	90.0					6																	91246115		2203	4300	6503	SO:0001587	stop_gained	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1297G>T	6.37:g.91246115C>A	ENSP00000358335:p.Gly433*		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G433*	ENST00000369329.3	37	c.1297	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.553720	0.97658	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	.	.	.	5.73	4.86	0.63082	.	0.201216	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.5767	0.84681	0.0:0.8696:0.1304:0.0	.	.	.	.	X	406;433;433;406;87;333	.	ENSP00000358326:G87X	G	-	1	0	MAP3K7	91302836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.161000	0.64935	1.411000	0.46957	0.650000	0.86243	GGA	MAP3K7	-	pirsf_MAPKKK7	ENSG00000135341		0.363	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1		0.00	49	0	C	NM_145331		91246115	-1			no_errors	ENST00000369329	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	A
MAP4K3	8491	genome.wustl.edu	37	2	39553377	39553377	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:39553377T>C	ENST00000263881.3	-	9	896	c.572A>G	c.(571-573)tAc>tGc	p.Y191C	MAP4K3_ENST00000437545.1_Missense_Mutation_p.Y128C|MAP4K3_ENST00000341681.5_Missense_Mutation_p.Y191C|MAP4K3_ENST00000536018.1_5'Flank|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GAGTTGATTGTAACCCCCCTT	0.428																																																	0													121.0	123.0	122.0					2																	39553377		2203	4300	6503	SO:0001583	missense	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.572A>G	2.37:g.39553377T>C	ENSP00000263881:p.Tyr191Cys		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_dom	p.Y191C	ENST00000263881.3	37	c.572	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579859	0.86645	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.31510	1.49;2.11;1.49	5.68	5.68	0.88126	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	0.60741	0.2292	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65738	-0.6095	9	.	.	.	.	15.9136	0.79491	0.0:0.0:0.0:1.0	.	191;191	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	C	191;128;191	ENSP00000263881:Y191C;ENSP00000416958:Y128C;ENSP00000345434:Y191C	.	Y	-	2	0	MAP4K3	39406881	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	7.848000	0.86902	2.154000	0.67381	0.477000	0.44152	TAC	MAP4K3	-	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	ENSG00000011566		0.428	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	-	0.00	31	0	T	NM_003618		39553377	-1	tier1	-	no_errors	ENST00000263881	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C
MCEE	84693	genome.wustl.edu	37	2	71337211	71337212	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:71337211_71337212insT	ENST00000244217.5	-	3	436_437	c.419_420insA	c.(418-420)aagfs	p.K140fs	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	140	Poly-Lys.				cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.K140N(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCGGATCTTCTTTTTTTTCAA	0.361																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.420dupA	2.37:g.71337219_71337219dupT	ENSP00000244217:p.Lys140fs		Q53TP1|Q8WW63	Frame_Shift_Ins	INS	pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase	p.K141fs	ENST00000244217.5	37	c.420_419	CCDS1915.1	2																																																																																			MCEE	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase	ENSG00000124370		0.361	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCEE	HGNC	protein_coding	OTTHUMT00000251917.3		0.00	47	0	-	NM_032601		71337212	-1	tier1		no_errors	ENST00000244217	ensembl	human	known	74_37	frame_shift_ins	8.89	41	4	INS	1.000:1.000	T
MEOX2	4223	genome.wustl.edu	37	7	15725593	15725593	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:15725593C>T	ENST00000262041.5	-	1	844	c.435G>A	c.(433-435)gcG>gcA	p.A145A	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGTCCCCCGGCGCGCACGCGG	0.706																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													28.0	35.0	33.0					7																	15725593		2184	4258	6442	SO:0001819	synonymous_variant	0				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.435G>A	7.37:g.15725593C>T			B2R8I7|O75263|Q9UPL6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A145	ENST00000262041.5	37	c.435	CCDS34605.1	7																																																																																			MEOX2	-	NULL	ENSG00000106511		0.706	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	-	0.00	56	0	C	NM_005924		15725593	-1	tier1	-	no_errors	ENST00000262041	ensembl	human	known	74_37	silent	41.27	36	26	SNP	0.998	T
MFN2	9927	genome.wustl.edu	37	1	12056272	12056272	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:12056272C>G	ENST00000235329.5	+	5	693	c.371C>G	c.(370-372)tCt>tGt	p.S124C	MFN2_ENST00000444836.1_Missense_Mutation_p.S124C	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	124	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GTTCTGCCCTCTGGGATTGGC	0.547																																																	0													144.0	122.0	129.0					1																	12056272		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.371C>G	1.37:g.12056272C>G	ENSP00000235329:p.Ser124Cys		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.S124C	ENST00000235329.5	37	c.371	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934145	0.92458	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.95690	-3.78;-3.78	5.63	5.63	0.86233	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.59425	D	0.04	-17.2512	19.0418	0.93002	0.0:1.0:0.0:0.0	.	124	O95140	MFN2_HUMAN	C	124	ENSP00000416338:S124C;ENSP00000235329:S124C	ENSP00000235329:S124C	S	+	2	0	MFN2	11978859	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	4.593000	0.61034	2.808000	0.96608	0.655000	0.94253	TCT	MFN2	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000116688		0.547	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0.00	58	0	C	NM_014874		12056272	+1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	62.86	13	22	SNP	1.000	G
MFSD10	10227	genome.wustl.edu	37	4	2934143	2934143	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:2934143A>G	ENST00000329687.4	-	5	1162	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	MFSD10_ENST00000508221.1_Missense_Mutation_p.F210L|MFSD10_ENST00000355443.4_Missense_Mutation_p.F210L|MFSD10_ENST00000514800.1_Missense_Mutation_p.F210L|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.F210L|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	210					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGGCTGCGAAGAGCAGGGCA	0.642																																																	0													49.0	53.0	52.0					4																	2934143		2203	4300	6503	SO:0001583	missense	0			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.628T>C	4.37:g.2934143A>G	ENSP00000332646:p.Phe210Leu		Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F210L	ENST00000329687.4	37	c.628	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	A	7.449	0.642220	0.14451	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.273612	0.41294	N	0.000904	T	0.22003	0.0530	N	0.03294	-0.36	0.80722	D	1	B;B;B;B	0.20164	0.003;0.008;0.042;0.008	B;B;B;B	0.26517	0.041;0.07;0.015;0.023	T	0.14448	-1.0472	10	0.02654	T	1	.	12.3148	0.54948	1.0:0.0:0.0:0.0	.	210;210;210;210	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	L	210	ENSP00000426907:F210L;ENSP00000347619:F210L;ENSP00000332646:F210L;ENSP00000425757:F210L;ENSP00000423402:F210L	ENSP00000332646:F210L	F	-	1	0	MFSD10	2903941	1.000000	0.71417	0.980000	0.43619	0.668000	0.39293	6.867000	0.75511	1.755000	0.51935	0.528000	0.53228	TTC	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000109736		0.642	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	-	0.00	46	0	A	NM_001120		2934143	-1	tier1	-	no_errors	ENST00000329687	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	G
MLLT3	4300	genome.wustl.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	5	Substitution - coding silent(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)											9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S168	ENST00000380338.4	37	c.504	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0.00	41	0	G	NM_004529		20414340	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	A
MMD2	221938	genome.wustl.edu	37	7	4947197	4947197	+	Missense_Mutation	SNP	C	C	T	rs375097927		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:4947197C>T	ENST00000404774.3	-	7	837	c.643G>A	c.(643-645)Gga>Aga	p.G215R	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.G191R	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	215						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AAGACCCCTCCGGTCACCAGC	0.602																																																	0								C	ARG/GLY,ARG/GLY	0,4012		0,0,2006	73.0	77.0	76.0		643,571	5.6	0.8	7		76	1,8331		0,1,4165	no	missense,missense	MMD2	NM_001100600.1,NM_198403.3	125,125	0,1,6171	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	215/271,191/247	4947197	1,12343	2006	4166	6172	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.643G>A	7.37:g.4947197C>T	ENSP00000384690:p.Gly215Arg		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.G215R	ENST00000404774.3	37	c.643	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.205675	0.95033	0.0	1.2E-4	ENSG00000136297	ENST00000404774;ENST00000401401	T;T	0.35236	1.32;1.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	H	0.95043	3.615	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.967	T	0.81044	-0.1111	10	0.72032	D	0.01	-10.8961	18.6698	0.91507	0.0:1.0:0.0:0.0	.	215;191	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	R	215;191	ENSP00000384690:G215R;ENSP00000384141:G191R	ENSP00000384141:G191R	G	-	1	0	MMD2	4913723	1.000000	0.71417	0.846000	0.33378	0.775000	0.43874	7.681000	0.84073	2.653000	0.90120	0.650000	0.86243	GGA	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.602	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	-	0.00	25	0	C	NM_198403		4947197	-1	tier1	-	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	33.33	32	16	SNP	1.000	T
MMP1	4312	genome.wustl.edu	37	11	102667452	102667452	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:102667452C>A	ENST00000315274.6	-	4	635	c.568G>T	c.(568-570)Ggt>Tgt	p.G190C	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	190	Metalloprotease.				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)	CCTCCAATACCTGGGCCTGGT	0.438																																																	0													124.0	109.0	114.0					11																	102667452		2203	4299	6502	SO:0001583	missense	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.568G>T	11.37:g.102667452C>A	ENSP00000322788:p.Gly190Cys		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G190C	ENST00000315274.6	37	c.568	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	c	15.12	2.739089	0.49045	.	.	ENSG00000196611	ENST00000315274	T	0.21361	2.01	5.87	-8.14	0.01069	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.168050	0.06122	N	0.669062	T	0.53626	0.1808	H	0.96430	3.82	0.23043	N	0.998388	D	0.89917	1.0	D	0.85130	0.997	T	0.63278	-0.6673	10	0.87932	D	0	.	10.5822	0.45263	0.0:0.2158:0.5092:0.275	.	190	P03956	MMP1_HUMAN	C	190	ENSP00000322788:G190C	ENSP00000322788:G190C	G	-	1	0	MMP1	102172662	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.449000	0.06812	-1.402000	0.02056	-0.136000	0.14681	GGT	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans	ENSG00000196611		0.438	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0.00	110	0	C	NM_002421		102667452	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	A
MPP3	4356	genome.wustl.edu	37	17	41888280	41888280	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:41888280G>T	ENST00000398389.4	-	18	1518	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L	MPP3_ENST00000398393.1_Missense_Mutation_p.F476L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	451	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATGTTCCAGGAACCTAAAAC	0.463																																																	0													89.0	85.0	86.0					17																	41888280		1876	4098	5974	SO:0001583	missense	0				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1353C>A	17.37:g.41888280G>T	ENSP00000381425:p.Phe451Leu		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.F451L	ENST00000398389.4	37	c.1353	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730127	0.48939	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.26660	1.72;1.72	5.58	4.59	0.56863	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.050061	0.85682	D	0.000000	T	0.42494	0.1205	L	0.59436	1.845	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14531	-1.0469	10	0.54805	T	0.06	.	8.1632	0.31211	0.1722:0.0:0.8278:0.0	.	451;476	Q13368;D3DX46	MPP3_HUMAN;.	L	476;451	ENSP00000381430:F476L;ENSP00000381425:F451L	ENSP00000381425:F451L	F	-	3	2	MPP3	39243806	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	0.851000	0.27751	2.906000	0.99361	0.655000	0.94253	TTC	MPP3	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000161647		0.463	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1		0.00	29	0	G	NM_001932		41888280	-1			no_errors	ENST00000398389	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
MS4A1	931	genome.wustl.edu	37	11	60229937	60229937	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:60229937C>T	ENST00000534668.1	+	2	379	c.90C>T	c.(88-90)ctC>ctT	p.L30L	MS4A1_ENST00000345732.4_Silent_p.L30L|MS4A1_ENST00000528313.1_Silent_p.L30L|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.L30L|MS4A1_ENST00000389939.2_Silent_p.L30L	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	30					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CAAAACCACTCTTCAGGAGGA	0.483																																																	0													77.0	79.0	79.0					11																	60229937		2203	4300	6503	SO:0001819	synonymous_variant	0			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.90C>T	11.37:g.60229937C>T			A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	pfam_CD20-like	p.L30	ENST00000534668.1	37	c.90	CCDS31570.1	11																																																																																			MS4A1	-	NULL	ENSG00000156738		0.483	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	HGNC	protein_coding	OTTHUMT00000395402.1	-	0.00	38	0	C			60229937	+1	tier1	-	no_errors	ENST00000345732	ensembl	human	known	74_37	silent	13.33	52	8	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195506846	195506846	+	Missense_Mutation	SNP	G	G	A	rs201264397		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:195506846G>A	ENST00000463781.3	-	2	12064	c.11605C>T	c.(11605-11607)Cac>Tac	p.H3869Y	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H3869Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.587																																																	0													10.0	10.0	10.0					3																	195506846		575	1526	2101	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11605C>T	3.37:g.195506846G>A	ENSP00000417498:p.His3869Tyr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H3869Y	ENST00000463781.3	37	c.11605	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	0.582	-0.836520	0.02692	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32515	1.48;1.45	.	.	.	.	.	.	.	.	T	0.15912	0.0383	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.29488	-1.0010	7	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	3741	E7ESK3	.	Y	3869	ENSP00000417498:H3869Y;ENSP00000420243:H3869Y	.	H	-	1	0	MUC4	196991625	0.005000	0.15991	0.058000	0.19502	0.058000	0.15608	-2.150000	0.01290	0.064000	0.16427	0.064000	0.15345	CAC	MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	127	0	G	NM_018406		195506846	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	29.14	124	51	SNP	0.574	A
MXD3	83463	genome.wustl.edu	37	5	176734506	176734506	+	3'UTR	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:176734506C>T	ENST00000439742.2	-	0	1182				MXD3_ENST00000513063.1_3'UTR|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000423571.2_Missense_Mutation_p.A261T	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCGAGCAGCCCTGAAGGCT	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.*83G>A	5.37:g.176734506C>T			B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A261T	ENST00000439742.2	37	c.781	CCDS4416.1	5	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875376	0.33162	.	.	ENSG00000213347	ENST00000423571	T	0.38560	1.13	3.18	2.26	0.28386	.	.	.	.	.	T	0.37019	0.0988	.	.	.	0.09310	N	0.999996	P	0.47762	0.9	B	0.41646	0.362	T	0.20472	-1.0274	8	0.87932	D	0	-4.989	10.7096	0.45975	0.1931:0.8069:0.0:0.0	.	261	B4E0J1	.	T	261	ENSP00000389716:A261T	ENSP00000389716:A261T	A	-	1	0	MXD3	176667112	0.000000	0.05858	0.010000	0.14722	0.101000	0.19017	0.143000	0.16115	0.829000	0.34733	0.561000	0.74099	GCT	MXD3	-	NULL	ENSG00000213347		0.647	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD3	HGNC	protein_coding	OTTHUMT00000253427.1	-	0.00	62	0	C			176734506	-1	tier1	-	no_errors	ENST00000423571	ensembl	human	putative	74_37	missense	6.45	57	4	SNP	0.004	T
NAT8	9027	genome.wustl.edu	37	2	73868257	73868257	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:73868257C>T	ENST00000272425.3	-	2	648	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TAGCCCTGGTCCCGGGCAAAC	0.572																																																	0													73.0	74.0	74.0					2																	73868257		2203	4300	6503	SO:0001583	missense	0			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.499G>A	2.37:g.73868257C>T	ENSP00000272425:p.Asp167Asn			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.D167N	ENST00000272425.3	37	c.499	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517476	0.85495	.	.	ENSG00000144035	ENST00000272425	T	0.21932	1.98	3.86	2.97	0.34412	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.460721	0.23945	N	0.043016	T	0.27027	0.0662	N	0.25286	0.73	0.32721	N	0.510288	D	0.55605	0.972	P	0.60541	0.876	T	0.33471	-0.9867	10	0.59425	D	0.04	-29.1916	11.9758	0.53091	0.0:0.8229:0.1771:0.0	.	167	Q9UHE5	NAT8_HUMAN	N	167	ENSP00000272425:D167N	ENSP00000272425:D167N	D	-	1	0	NAT8	73721765	0.003000	0.15002	0.101000	0.21167	0.257000	0.26127	1.323000	0.33701	0.920000	0.36970	0.644000	0.83932	GAC	NAT8	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000144035		0.572	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	-	0.00	63	0	C	NM_003960		73868257	-1	tier1	-	no_errors	ENST00000272425	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.917	T
NAV1	89796	genome.wustl.edu	37	1	201750186	201750186	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:201750186G>C	ENST00000367296.4	+	5	1832	c.1412G>C	c.(1411-1413)aGc>aCc	p.S471T	NAV1_ENST00000367300.3_Missense_Mutation_p.S471T|NAV1_ENST00000367302.1_Missense_Mutation_p.S484T|NAV1_ENST00000367295.1_Missense_Mutation_p.S80T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S471T|NAV1_ENST00000367297.4_Missense_Mutation_p.S471T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	471					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTGGGCTGAGCTGGTTTAGT	0.502																																																	0													71.0	77.0	75.0					1																	201750186		2203	4300	6503	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1412G>C	1.37:g.201750186G>C	ENSP00000356265:p.Ser471Thr		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S471T	ENST00000367296.4	37	c.1412	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.35|11.35	1.612588|1.612588	0.28712|0.28712	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.|T;T;T;T;T;T	.|0.34072	.|1.38;1.38;1.38;1.38;1.38;1.38	5.88|5.88	0.608|0.608	0.17569|0.17569	.|.	.|0.394955	.|0.31438	.|N	.|0.007650	T|T	0.25531|0.25531	0.0621|0.0621	L|L	0.45228|0.45228	1.405|1.405	0.24176|0.24176	N|N	0.995607|0.995607	.|B;B;B	.|0.33694	.|0.421;0.043;0.101	.|B;B;B	.|0.37601	.|0.254;0.127;0.098	T|T	0.31916|0.31916	-0.9926|-0.9926	5|10	.|0.02654	.|T	.|1	-7.1755|-7.1755	10.624|10.624	0.45497|0.45497	0.4007:0.0:0.5993:0.0|0.4007:0.0:0.5993:0.0	.|.	.|80;471;471	.|Q8NEY1-5;Q8NEY1;Q8NEY1-3	.|.;NAV1_HUMAN;.	D|T	28|484;471;471;471;471;80	.|ENSP00000356271:S484T;ENSP00000356265:S471T;ENSP00000295624:S471T;ENSP00000356266:S471T;ENSP00000356269:S471T;ENSP00000356264:S80T	.|ENSP00000295624:S471T	E|S	+|+	3|2	2|0	NAV1|NAV1	200016809|200016809	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	2.217000|2.217000	0.42880|0.42880	-0.137000|-0.137000	0.11455|0.11455	-0.136000|-0.136000	0.14681|0.14681	GAG|AGC	NAV1	-	NULL	ENSG00000134369		0.502	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0.00	49	0	G	NM_020443		201750186	+1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	9.59	66	7	SNP	0.976	C
NAV2	89797	genome.wustl.edu	37	11	19961215	19961215	+	Missense_Mutation	SNP	C	C	T	rs374224699		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:19961215C>T	ENST00000396087.3	+	9	2210	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NAV2_ENST00000540292.1_Missense_Mutation_p.T635M|NAV2_ENST00000360655.4_Missense_Mutation_p.T617M|NAV2_ENST00000396085.1_Missense_Mutation_p.T681M|NAV2_ENST00000527559.2_Missense_Mutation_p.T633M|NAV2_ENST00000349880.4_Missense_Mutation_p.T681M	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	704					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTCTCAGACGGACACTGAA	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18373	0.0		0.0	False		,,,				2504	0.0																0								C	MET/THR,MET/THR,MET/THR	0,4398		0,0,2199	153.0	123.0	133.0		1850,2042,2042	5.7	1.0	11		133	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	81,81,81	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	617/2366,681/2430,681/2433	19961215	1,12983	2199	4293	6492	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2111C>T	11.37:g.19961215C>T	ENSP00000379396:p.Thr704Met		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T704M	ENST00000396087.3	37	c.2111	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758808	0.69763	0.0	1.16E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.71	5.71	0.89125	.	0.086459	0.49916	D	0.000121	T	0.29028	0.0721	L	0.39898	1.24	0.80722	D	1	D;D	0.57571	0.965;0.98	P;P	0.54965	0.765;0.614	T	0.00219	-1.1907	9	.	.	.	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	681;617	Q8IVL1-3;Q8IVL1-4	.;.	M	617;681;681;704;633;635	ENSP00000353871:T617M;ENSP00000379394:T681M;ENSP00000309577:T681M;ENSP00000379396:T704M;ENSP00000435395:T633M;ENSP00000443489:T635M	.	T	+	2	0	NAV2	19917791	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	4.408000	0.59761	2.691000	0.91804	0.563000	0.77884	ACG	NAV2	-	NULL	ENSG00000166833		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0.00	43	0	C	NM_145117		19961215	+1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
NBEAL2	23218	genome.wustl.edu	37	3	47049918	47049918	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:47049918G>A	ENST00000450053.3	+	51	8044	c.7865G>A	c.(7864-7866)cGt>cAt	p.R2622H	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R2438H|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R871H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2622					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGTGGGAACGTCCTGGGGCC	0.612																																																	0													46.0	47.0	47.0					3																	47049918		2062	4186	6248	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7865G>A	3.37:g.47049918G>A	ENSP00000415034:p.Arg2622His		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2622H	ENST00000450053.3	37	c.7865	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.95|19.95	3.921393|3.921393	0.73213|0.73213	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	5.15|5.15	5.15|5.15	0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.178828|.	0.47852|.	D|.	0.000211|.	T|T	0.60830|0.60830	0.2299|0.2299	L|L	0.60455|0.60455	1.87|1.87	0.32937|0.32937	D|D	0.517852|0.517852	B;B|.	0.31752|.	0.067;0.338|.	B;B|.	0.31390|.	0.019;0.129|.	T|T	0.68108|0.68108	-0.5496|-0.5496	10|5	0.51188|.	T|.	0.08|.	.|.	13.9938|13.9938	0.64382|0.64382	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2438;2622|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	H|I	2438;871;2622;565|1910	ENSP00000292309:R2438H;ENSP00000373246:R871H;ENSP00000415034:R2622H|.	ENSP00000292309:R2438H|.	R|V	+|+	2|1	0|0	NBEAL2|NBEAL2	47024922|47024922	0.998000|0.998000	0.40836|0.40836	0.707000|0.707000	0.30419|0.30419	0.997000|0.997000	0.91878|0.91878	4.629000|4.629000	0.61290|0.61290	2.669000|2.669000	0.90835|0.90835	0.561000|0.561000	0.74099|0.74099	CGT|GTC	NBEAL2	-	superfamily_WD40_repeat_dom	ENSG00000160796		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0.00	59	0	G	XM_291064		47049918	+1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.429	A
NES	10763	genome.wustl.edu	37	1	156641419	156641420	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:156641419_156641420TC>AT	ENST00000368223.3	-	4	2692_2693	c.2560_2561GA>AT	c.(2560-2562)GAa>ATa	p.E854I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	854	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGATTTATTTCTTCTGGAGTC	0.446																																																	0																																										SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2560_2561delinsAT	1.37:g.156641419_156641420delinsAT	ENSP00000357206:p.Glu854Ile		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.E854V|p.E854K	ENST00000368223.3	37	c.2561|c.2560	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.446	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2		0.00	28	0	T|C	NM_006617		156641419|156641420	-1			no_errors	ENST00000368223	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.196|0.295	A|T
NFIX	4784	genome.wustl.edu	37	19	13136057	13136057	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:13136057C>T	ENST00000592199.1	+	2	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	NFIX_ENST00000587760.1_Missense_Mutation_p.R76W|NFIX_ENST00000588228.1_Missense_Mutation_p.R37W|NFIX_ENST00000358552.3_Missense_Mutation_p.R83W|NFIX_ENST00000587260.1_Missense_Mutation_p.R83W|NFIX_ENST00000397661.2_Missense_Mutation_p.R84W|NFIX_ENST00000585575.1_Missense_Mutation_p.R76W|NFIX_ENST00000360105.4_Missense_Mutation_p.R87W			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	84					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|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)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAAGGACATCCGGCCCGAGTT	0.662																																																	0													56.0	57.0	56.0					19																	13136057		2203	4300	6503	SO:0001583	missense	0			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.250C>T	19.37:g.13136057C>T	ENSP00000467512:p.Arg84Trp		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R76W	ENST00000592199.1	37	c.226		19	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441835	0.83993	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.52057	0.68;0.73	5.26	5.26	0.73747	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.69061	0.3069	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.995;0.999;0.996	T	0.72600	-0.4244	10	0.87932	D	0	.	17.6376	0.88127	0.0:1.0:0.0:0.0	.	92;83;87;84;84	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	W	84;84;87;37;83	ENSP00000380781:R84W;ENSP00000351354:R83W	ENSP00000264825:R87W	R	+	1	2	NFIX	12997057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.998000	0.70653	2.463000	0.83235	0.655000	0.94253	CGG	NFIX	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	ENSG00000008441		0.662	NFIX-013	NOVEL	basic	protein_coding	NFIX	HGNC	protein_coding	OTTHUMT00000452763.1	-	0.00	49	0	C	NM_002501		13136057	+1	tier1	-	no_errors	ENST00000585575	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T
NPAS3	64067	genome.wustl.edu	37	14	34270029	34270029	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:34270029C>A	ENST00000356141.4	+	12	2516	c.2516C>A	c.(2515-2517)gCc>gAc	p.A839D	NPAS3_ENST00000551492.1_Missense_Mutation_p.A844D|NPAS3_ENST00000357798.5_Missense_Mutation_p.A826D|NPAS3_ENST00000346562.2_Missense_Mutation_p.A807D|NPAS3_ENST00000548645.1_Missense_Mutation_p.A809D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	839					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGACCCTGGCCATGCAGAGC	0.677																																																	0													36.0	27.0	30.0					14																	34270029		2197	4299	6496	SO:0001583	missense	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2516C>A	14.37:g.34270029C>A	ENSP00000348460:p.Ala839Asp		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A839D	ENST00000356141.4	37	c.2516	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235505	0.58886	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11063	3.07;2.93;2.96;2.96;2.94;2.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.65815	0.995;0.991;0.995;0.995	D;P;D;D	0.63877	0.919;0.831;0.919;0.919	T	0.02378	-1.1168	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	809;839;807;826	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	D	813;844;807;809;839;826	ENSP00000448373:A813D;ENSP00000450392:A844D;ENSP00000319610:A807D;ENSP00000448916:A809D;ENSP00000348460:A839D;ENSP00000350446:A826D	ENSP00000319610:A807D	A	+	2	0	NPAS3	33339780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.508000	0.67006	2.310000	0.77875	0.484000	0.47621	GCC	NPAS3	-	NULL	ENSG00000151322		0.677	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0.00	38	0	C			34270029	+1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	A
NR2C2	7182	genome.wustl.edu	37	3	15045465	15045465	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:15045465C>G	ENST00000425241.1	+	2	406	c.44C>G	c.(43-45)tCt>tGt	p.S15C	NR2C2_ENST00000393102.3_Missense_Mutation_p.S15C|NR2C2_ENST00000406272.2_Missense_Mutation_p.S15C|NR2C2_ENST00000323373.6_Missense_Mutation_p.S15C			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	15					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCACCGACTCTGCTGTAGCC	0.552																																																	0													129.0	106.0	114.0					3																	15045465		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.44C>G	3.37:g.15045465C>G	ENSP00000388387:p.Ser15Cys		A8K3H5|B6ZGT8|P55092	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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S15C	ENST00000425241.1	37	c.44		3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809835	0.90707	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000435454;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.94793	-3.47;-3.52;-3.47;-3.43;-3.47	5.31	5.31	0.75309	.	0.292038	0.39210	N	0.001435	D	0.94205	0.8140	L	0.40543	1.245	0.43218	D	0.995093	D;D	0.65815	0.995;0.983	P;B	0.52672	0.706;0.431	D	0.93650	0.6972	10	0.39692	T	0.17	.	18.5771	0.91159	0.0:1.0:0.0:0.0	.	15;15	P49116;F2YGU2	NR2C2_HUMAN;.	C	15	ENSP00000388387:S15C;ENSP00000320447:S15C;ENSP00000376814:S15C;ENSP00000401807:S15C;ENSP00000384463:S15C	ENSP00000320447:S15C	S	+	2	0	NR2C2	15020469	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.350000	0.73017	2.493000	0.84123	0.563000	0.77884	TCT	NR2C2	-	NULL	ENSG00000177463		0.552	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0.00	58	0	C	NM_003298		15045465	+1	tier1	-	no_errors	ENST00000323373	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G
NRP1	8829	genome.wustl.edu	37	10	33619702	33619702	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:33619702G>T	ENST00000265371.4	-	3	707	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	NRP1_ENST00000395995.1_Missense_Mutation_p.P61Q|NRP1_ENST00000432372.2_Missense_Mutation_p.P61Q|NRP1_ENST00000374823.5_Missense_Mutation_p.P61Q|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374822.4_Missense_Mutation_p.P61Q|NRP1_ENST00000374816.3_Missense_Mutation_p.P61Q|NRP1_ENST00000374867.2_Missense_Mutation_p.P61Q|NRP1_ENST00000374821.5_Missense_Mutation_p.P61Q			O14786	NRP1_HUMAN	neuropilin 1	61	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTATGGGTCCGGAGCCTGAAT	0.453																																					Melanoma(104;886 1489 44640 45944 51153)												0													135.0	124.0	127.0					10																	33619702		2203	4300	6503	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.182C>A	10.37:g.33619702G>T	ENSP00000265371:p.Pro61Gln		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.P61Q	ENST00000265371.4	37	c.182	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166619	0.78339	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.99	5.99	0.97316	CUB (5);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.963;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.95;0.984;0.983;1.0;0.999	T	0.69997	-0.4993	10	0.87932	D	0	-21.2723	20.4777	0.99188	0.0:0.0:1.0:0.0	.	61;61;61;61;61;61;61;61	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	Q	61	ENSP00000265371:P61Q;ENSP00000364001:P61Q;ENSP00000379317:P61Q;ENSP00000363955:P61Q;ENSP00000363954:P61Q;ENSP00000363956:P61Q;ENSP00000363949:P61Q	ENSP00000265371:P61Q	P	-	2	0	NRP1	33659708	1.000000	0.71417	0.879000	0.34478	0.998000	0.95712	9.370000	0.97159	2.840000	0.97914	0.655000	0.94253	CCG	NRP1	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000099250		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0.00	88	0	G			33619702	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
NTM	50863	genome.wustl.edu	37	11	132206479	132206479	+	3'UTR	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:132206479G>T	ENST00000374786.1	+	0	2953				NTM_ENST00000374791.3_3'UTR|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGTGACCACTGGAGAGTTTAA	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*1439G>T	11.37:g.132206479G>T			A0MTT2|Q6UXJ3|Q86VJ9	RNA	SNP	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.403	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	60	0	G	NM_016522		132206479	+1	tier1	-	no_errors	ENST00000474900	ensembl	human	known	74_37	rna	9.09	40	4	SNP	1.000	T
NUP188	23511	genome.wustl.edu	37	9	131733123	131733123	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:131733123G>T	ENST00000372577.2	+	11	1020	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	333					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCACACTCTGAACCCAGAAG	0.517																																																	0													166.0	151.0	156.0					9																	131733123		2203	4300	6503	SO:0001819	synonymous_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.999G>T	9.37:g.131733123G>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L333	ENST00000372577.2	37	c.999	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.517	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0.00	74	0	G			131733123	+1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T
OR51M1	390059	genome.wustl.edu	37	11	5411427	5411427	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:5411427A>T	ENST00000328611.3	+	1	821	c.799A>T	c.(799-801)Atg>Ttg	p.M267L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTGTGCCCATGATGGGGCT	0.552																																																	0													88.0	81.0	83.0					11																	5411427		2060	4195	6255	SO:0001583	missense	0			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.799A>T	11.37:g.5411427A>T	ENSP00000333196:p.Met267Leu		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M267L	ENST00000328611.3	37	c.799	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	8.802	0.933043	0.18131	.	.	ENSG00000184698	ENST00000328611	T	0.34072	1.38	5.24	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.183413	0.26324	U	0.025038	T	0.14787	0.0357	N	0.11255	0.115	0.19945	N	0.999945	B	0.13594	0.008	B	0.22880	0.042	T	0.15752	-1.0426	10	0.18276	T	0.48	.	1.0622	0.01603	0.5233:0.1568:0.169:0.151	.	256	Q9H341	O51M1_HUMAN	L	267	ENSP00000333196:M267L	ENSP00000333196:M267L	M	+	1	0	OR51M1	5368003	0.000000	0.05858	0.883000	0.34634	0.921000	0.55340	-0.819000	0.04462	0.466000	0.27193	0.533000	0.62120	ATG	OR51M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184698		0.552	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	-	0.00	61	0	A	NM_001004756		5411427	+1	tier1	-	no_errors	ENST00000328611	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.180	T
OR2D2	120776	genome.wustl.edu	37	11	6913349	6913349	+	Missense_Mutation	SNP	T	T	A	rs202241668	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:6913349T>A	ENST00000299459.2	-	1	481	c.383A>T	c.(382-384)aAt>aTt	p.N128I		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	128					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGCAGAGGATTGCAGATTGC	0.502																																																	0													141.0	110.0	120.0					11																	6913349		2201	4296	6497	SO:0001583	missense	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.383A>T	11.37:g.6913349T>A	ENSP00000299459:p.Asn128Ile		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.N128I	ENST00000299459.2	37	c.383	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	t	10.43	1.347690	0.24426	.	.	ENSG00000166368	ENST00000299459	T	0.00397	7.57	5.23	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.371511	0.23132	N	0.051562	T	0.00328	0.0010	L	0.56396	1.775	0.09310	N	1	B	0.32010	0.351	B	0.30029	0.11	T	0.42816	-0.9429	10	0.72032	D	0.01	-3.366	7.9903	0.30237	0.0:0.1836:0.0:0.8164	.	128	Q9H210	OR2D2_HUMAN	I	128	ENSP00000299459:N128I	ENSP00000299459:N128I	N	-	2	0	OR2D2	6869925	0.021000	0.18746	0.156000	0.22583	0.809000	0.45718	1.576000	0.36504	0.486000	0.27676	-0.424000	0.05967	AAT	OR2D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000166368		0.502	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	-	0.00	46	0	T	NM_003700		6913349	-1	tier1	-	no_errors	ENST00000299459	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.007	A
OR5M3	219482	genome.wustl.edu	37	11	56237898	56237898	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:56237898A>G	ENST00000312240.2	-	1	116	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGATGATGAAGAAGAGAACT	0.428																																																	0													96.0	84.0	88.0					11																	56237898		2201	4295	6496	SO:0001583	missense	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.76T>C	11.37:g.56237898A>G	ENSP00000312208:p.Phe26Leu		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F26L	ENST00000312240.2	37	c.76	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615285	0.46631	.	.	ENSG00000174937	ENST00000312240	T	0.04454	3.62	5.11	3.97	0.46021	.	0.000000	0.43579	D	0.000556	T	0.11410	0.0278	M	0.77406	2.37	0.21064	N	0.999793	P	0.50943	0.94	P	0.48304	0.573	T	0.07770	-1.0755	10	0.62326	D	0.03	-17.0269	9.8157	0.40851	0.9172:0.0:0.0828:0.0	.	26	Q8NGP4	OR5M3_HUMAN	L	26	ENSP00000312208:F26L	ENSP00000312208:F26L	F	-	1	0	OR5M3	55994474	0.928000	0.31464	0.056000	0.19401	0.088000	0.18126	3.804000	0.55568	0.779000	0.33543	0.391000	0.25812	TTC	OR5M3	-	prints_GPCR_Rhodpsn	ENSG00000174937		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0.00	81	0	A	NM_001004742		56237898	-1	tier1	-	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.435	G
OR8S1	341568	genome.wustl.edu	37	12	48919861	48919861	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:48919861G>T	ENST00000310194.1	+	1	447	c.447G>T	c.(445-447)tgG>tgT	p.W149C	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGGCTCATGGGGACTGGGCT	0.502																																																	0													173.0	158.0	163.0					12																	48919861		2203	4300	6503	SO:0001583	missense	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.447G>T	12.37:g.48919861G>T	ENSP00000310632:p.Trp149Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149C	ENST00000310194.1	37	c.447	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014819	0.19355	.	.	ENSG00000197376	ENST00000310194	T	0.59638	0.25	5.03	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001724	T	0.72187	0.3429	M	0.84511	2.7	0.44570	D	0.997533	P	0.45768	0.866	P	0.56434	0.798	T	0.76083	-0.3089	10	0.59425	D	0.04	-34.9691	12.3077	0.54912	0.0:0.0:0.5567:0.4433	.	149	Q8NH09	OR8S1_HUMAN	C	149	ENSP00000310632:W149C	ENSP00000310632:W149C	W	+	3	0	OR8S1	47206128	0.574000	0.26684	0.074000	0.20217	0.114000	0.19823	0.787000	0.26858	0.684000	0.31448	-0.152000	0.13540	TGG	OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197376		0.502	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1		0.00	73	0	G			48919861	+1			no_errors	ENST00000310194	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.806	T
OSR2	116039	genome.wustl.edu	37	8	99961213	99961213	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:99961213G>T	ENST00000297565.4	+	2	529	c.33G>T	c.(31-33)ccG>ccT	p.P11P	OSR2_ENST00000522510.1_Silent_p.P11P|OSR2_ENST00000523368.1_Silent_p.P11P|OSR2_ENST00000457907.2_Silent_p.P132P|OSR2_ENST00000435298.2_Silent_p.P11P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	11					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCCCATCCCGCTCCACCCGT	0.652																																																	0													46.0	51.0	49.0					8																	99961213		2035	4178	6213	SO:0001819	synonymous_variant	0			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.33G>T	8.37:g.99961213G>T			A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P132	ENST00000297565.4	37	c.396	CCDS47901.1	8																																																																																			OSR2	-	NULL	ENSG00000164920		0.652	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1		0.00	44	0	G	NM_053001		99961213	+1			no_errors	ENST00000457907	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.993	T
OTOL1	131149	genome.wustl.edu	37	3	161220969	161220969	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:161220969G>A	ENST00000327928.4	+	4	673	c.673G>A	c.(673-675)Gcc>Acc	p.A225T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	225	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGGCCTGGCGCCaagggaga	0.577																																																	0													5.0	5.0	5.0					3																	161220969		1687	3763	5450	SO:0001583	missense	0				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.673G>A	3.37:g.161220969G>A	ENSP00000330808:p.Ala225Thr			Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A225T	ENST00000327928.4	37	c.673	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614382	0.14129	.	.	ENSG00000182447	ENST00000327928	D	0.93426	-3.22	4.71	3.84	0.44239	.	0.660244	0.14754	N	0.300419	D	0.89262	0.6665	L	0.46567	1.45	0.25331	N	0.989031	B	0.11235	0.004	B	0.04013	0.001	T	0.75071	-0.3447	10	0.15066	T	0.55	.	11.7844	0.52034	0.0872:0.0:0.9128:0.0	.	225	A6NHN0	OTOL1_HUMAN	T	225	ENSP00000330808:A225T	ENSP00000330808:A225T	A	+	1	0	OTOL1	162703663	0.007000	0.16637	0.996000	0.52242	0.081000	0.17604	1.458000	0.35223	0.966000	0.38159	-0.252000	0.11476	GCC	OTOL1	-	NULL	ENSG00000182447		0.577	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	-	0.00	24	0	G	NM_001080440		161220969	+1	tier1	-	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.991	A
PMCH	5367	genome.wustl.edu	37	12	102590702	102590702	+	Intron	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:102590702G>T	ENST00000329406.4	-	2	523				PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000327680.2_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone						cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TCAGAGTTCTGTTTAATGGTG	0.348																																																	0													34.0	30.0	32.0					12																	102590702		2200	4296	6496	SO:0001627	intron_variant	0			M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.448+48C>A	12.37:g.102590702G>T			Q16044|Q8WVG0	RNA	SNP	-	NULL	ENST00000329406.4	37	NULL	CCDS31885.1	12																																																																																			PARPBP	-	-	ENSG00000185480		0.348	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000409337.1	-	0.00	57	0	G	NM_002674		102590702	+1	tier1	-	no_errors	ENST00000535811	ensembl	human	known	74_37	rna	9.38	28	3	SNP	0.001	T
PCLO	27445	genome.wustl.edu	37	7	82544283	82544283	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:82544283G>C	ENST00000333891.9	-	7	13356	c.13019C>G	c.(13018-13020)aCc>aGc	p.T4340S	PCLO_ENST00000423517.2_Missense_Mutation_p.T4340S|PCLO_ENST00000437081.1_Missense_Mutation_p.T1060S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCAAACTGGTCGGCTTAGT	0.463																																																	0													95.0	92.0	93.0					7																	82544283		1885	4110	5995	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13019C>G	7.37:g.82544283G>C	ENSP00000334319:p.Thr4340Ser			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T4340S	ENST00000333891.9	37	c.13019	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	6.696	0.496981	0.12762	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.13901	2.56;2.55	5.79	5.79	0.91817	.	.	.	.	.	T	0.20129	0.0484	L	0.35414	1.06	0.58432	D	0.999994	B;P;P	0.47545	0.379;0.897;0.897	B;P;P	0.48089	0.064;0.566;0.566	T	0.00215	-1.1911	9	0.87932	D	0	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	4271;4340;4340	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	4340;4340;1060	ENSP00000334319:T4340S;ENSP00000388393:T4340S	ENSP00000334319:T4340S	T	-	2	0	PCLO	82382219	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	9.869000	0.99810	2.753000	0.94483	0.557000	0.71058	ACC	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	78	0	G	NM_014510		82544283	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	35.38	42	23	SNP	0.999	C
PDE6C	5146	genome.wustl.edu	37	10	95399868	95399868	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:95399868A>T	ENST00000371447.3	+	12	1662	c.1524A>T	c.(1522-1524)gaA>gaT	p.E508D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	508					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AACTGTACGAATTCCGCTTCA	0.423																																																	0													130.0	114.0	120.0					10																	95399868		2203	4300	6503	SO:0001583	missense	0			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1524A>T	10.37:g.95399868A>T	ENSP00000360502:p.Glu508Asp		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E508D	ENST00000371447.3	37	c.1524	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081297	0.36758	.	.	ENSG00000095464	ENST00000371447	T	0.76968	-1.06	4.99	0.803	0.18691	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.337819	0.33691	N	0.004643	T	0.68632	0.3022	L	0.54908	1.71	0.50467	D	0.999876	P	0.48911	0.917	B	0.43575	0.424	T	0.61869	-0.6974	10	0.18710	T	0.47	.	8.3443	0.32263	0.7206:0.0:0.2794:0.0	.	508	P51160	PDE6C_HUMAN	D	508	ENSP00000360502:E508D	ENSP00000360502:E508D	E	+	3	2	PDE6C	95389858	0.995000	0.38212	0.996000	0.52242	0.568000	0.35870	0.507000	0.22675	-0.016000	0.14127	0.460000	0.39030	GAA	PDE6C	-	NULL	ENSG00000095464		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	-	0.00	81	0	A	NM_006204		95399868	+1	tier1	-	no_errors	ENST00000371447	ensembl	human	known	74_37	missense	36.51	40	23	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32108982	32108982	+	3'UTR	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:32108982G>A	ENST00000438447.1	+	0	9649				PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2						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						CTGTTTTACAGAATAGCACTT	0.353																																																	0																																										SO:0001624	3_prime_UTR_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.*741G>A	5.37:g.32108982G>A			Q9BXD4	RNA	SNP	-	NULL	ENST00000438447.1	37	NULL	CCDS34137.1	5																																																																																			PDZD2	-	-	ENSG00000133401		0.353	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	41	0	G			32108982	+1	tier1	-	no_errors	ENST00000513490	ensembl	human	known	74_37	rna	40.74	16	11	SNP	0.001	A
PELI2	57161	genome.wustl.edu	37	14	56755351	56755351	+	Splice_Site	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:56755351G>C	ENST00000267460.4	+	4	792	c.506G>C	c.(505-507)gGa>gCa	p.G169A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	169	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATATTTCTTGGAGTAAGTACT	0.398																																																	0													55.0	48.0	51.0					14																	56755351		2203	4300	6503	SO:0001630	splice_region_variant	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.507+1G>C	14.37:g.56755351G>C			B2RDY5	Missense_Mutation	SNP	pfam_Pellino_fam	p.G169A	ENST00000267460.4	37	c.506	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018937	0.93404	.	.	ENSG00000139946	ENST00000267460	T	0.52754	0.65	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77040	-0.2735	10	0.87932	D	0	-17.9314	19.3706	0.94481	0.0:0.0:1.0:0.0	.	169	Q9HAT8	PELI2_HUMAN	A	169	ENSP00000267460:G169A	ENSP00000267460:G169A	G	+	2	0	PELI2	55825104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.584000	0.87258	0.655000	0.94253	GGA	PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.398	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0.00	51	0	G		Missense_Mutation	56755351	+1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	C
PHF2	5253	genome.wustl.edu	37	9	96428302	96428302	+	Missense_Mutation	SNP	C	C	T	rs368672670		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:96428302C>T	ENST00000359246.4	+	16	2514	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	716				AVLPTPVT -> EALLMPTS (in Ref. 1; AAD21791). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GTGCTGCCCACGCCTGTCACG	0.632																																																	0									MET/THR	1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		2147	0.2	0.0	9		73	0,8600		0,0,4300	no	missense	PHF2	NM_005392.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	716/1097	96428302	1,13005	2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2147C>T	9.37:g.96428302C>T	ENSP00000352185:p.Thr716Met		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T716M	ENST00000359246.4	37	c.2147	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	4.947	0.175971	0.09443	2.27E-4	0.0	ENSG00000197724	ENST00000359246	T	0.18174	2.23	5.21	0.193	0.15139	.	0.569785	0.19113	N	0.122397	T	0.16896	0.0406	N	0.19112	0.55	0.19575	N	0.999964	B;D	0.71674	0.239;0.998	B;P	0.57101	0.023;0.813	T	0.13415	-1.0510	10	0.45353	T	0.12	-0.6587	8.1704	0.31252	0.0:0.5897:0.0:0.4103	.	134;716	Q8N359;O75151	.;PHF2_HUMAN	M	716	ENSP00000352185:T716M	ENSP00000352185:T716M	T	+	2	0	PHF2	95468123	0.015000	0.18098	0.003000	0.11579	0.055000	0.15305	0.084000	0.14891	-0.253000	0.09514	-0.963000	0.02626	ACG	PHF2	-	NULL	ENSG00000197724		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0.00	62	0	C	NM_005392		96428302	+1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.121	T
PKD2	5311	genome.wustl.edu	37	4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0										18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				SO:0001651	inframe_deletion	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del		Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			PKD2	-	NULL	ENSG00000118762		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0.00	42	0	GAG	NM_000297		88929176	+1	tier1		no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	8.11	34	3	DEL	1.000:1.000:1.000	-
PKHD1	5314	genome.wustl.edu	37	6	51523791	51523791	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:51523791C>T	ENST00000371117.3	-	61	11408	c.11133G>A	c.(11131-11133)ggG>ggA	p.G3711G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3711					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAGTAAGGCCCCGATAGTCA	0.388																																																	0													129.0	128.0	128.0					6																	51523791		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11133G>A	6.37:g.51523791C>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.G3711	ENST00000371117.3	37	c.11133	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0.00	88	0	C	NM_138694		51523791	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.437	T
PKHD1L1	93035	genome.wustl.edu	37	8	110442220	110442220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:110442220G>A	ENST00000378402.5	+	27	3287	c.3183G>A	c.(3181-3183)tgG>tgA	p.W1061*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1061					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTTACATGGGATTCCAACA	0.398										HNSCC(38;0.096)																																							0													139.0	125.0	129.0					8																	110442220		1878	4115	5993	SO:0001587	stop_gained	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3183G>A	8.37:g.110442220G>A	ENSP00000367655:p.Trp1061*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.W1061*	ENST00000378402.5	37	c.3183	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.086407	0.98055	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1249	0.72475	0.0:0.0:1.0:0.0	.	.	.	.	X	1061	.	ENSP00000367655:W1061X	W	+	3	0	PKHD1L1	110511396	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	5.667000	0.68067	2.700000	0.92200	0.650000	0.86243	TGG	PKHD1L1	-	NULL	ENSG00000205038		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	113	0	G	NM_177531		110442220	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	A
PLXNB2	23654	genome.wustl.edu	37	22	50716282	50716282	+	Splice_Site	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:50716282C>T	ENST00000449103.1	-	32	5188	c.5048G>A	c.(5047-5049)aGc>aAc	p.S1683N	PLXNB2_ENST00000359337.4_Splice_Site_p.S1683N			O15031	PLXB2_HUMAN	plexin B2	1683					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGCCTCACCTGTTCGTCTT	0.637																																																	0													67.0	81.0	77.0					22																	50716282		2150	4260	6410	SO:0001630	splice_region_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5048+1G>A	22.37:g.50716282C>T			A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.S1683N	ENST00000449103.1	37	c.5048	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.558650|4.558650	0.86231|0.86231	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991|ENST00000449103;ENST00000359337;ENST00000399964	.|T;T	.|0.18016	.|2.24;2.24	4.38|4.38	4.38|4.38	0.52667|0.52667	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50222|0.50222	0.1603|0.1603	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.62329|0.62329	-0.6877|-0.6877	5|9	.|.	.|.	.|.	.|.	17.1139|17.1139	0.86683|0.86683	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1683	.|O15031	.|PLXB2_HUMAN	T|N	154|1683;1683;313	.|ENSP00000409171:S1683N;ENSP00000352288:S1683N	.|.	A|S	-|-	1|2	0|0	PLXNB2|PLXNB2	49058409|49058409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.505000|0.505000	0.33919|0.33919	5.611000|5.611000	0.67674|0.67674	2.254000|2.254000	0.74563|0.74563	0.491000|0.491000	0.48974|0.48974	GCT|AGC	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0.00	52	0	C	NM_012401	Missense_Mutation	50716282	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
POLR3B	55703	genome.wustl.edu	37	12	106848301	106848301	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:106848301G>T	ENST00000228347.4	+	20	2327	c.2105G>T	c.(2104-2106)cGa>cTa	p.R702L	POLR3B_ENST00000539066.1_Missense_Mutation_p.R644L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	702					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TACAACCAGCGAAACAGAATT	0.318																																																	0													73.0	70.0	71.0					12																	106848301		2203	4300	6503	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2105G>T	12.37:g.106848301G>T	ENSP00000228347:p.Arg702Leu		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.R702L	ENST00000228347.4	37	c.2105	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348313	0.24426	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71103	-0.54;-0.54	5.88	5.0	0.66597	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.39514	1.22	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.55636	-0.8110	10	0.09590	T	0.72	-18.8338	15.3462	0.74340	0.0667:0.0:0.9333:0.0	.	702	Q9NW08	RPC2_HUMAN	L	702;644	ENSP00000228347:R702L;ENSP00000445721:R644L	ENSP00000228347:R702L	R	+	2	0	POLR3B	105372431	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.994000	0.88315	1.511000	0.48818	-0.128000	0.14901	CGA	POLR3B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000013503		0.318	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	-	0.00	42	0	G	NM_018082		106848301	+1	tier1	-	no_errors	ENST00000228347	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
POLE	5426	genome.wustl.edu	37	12	133209313	133209313	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:133209313C>T	ENST00000320574.5	-	44	6116	c.6073G>A	c.(6073-6075)Gtg>Atg	p.V2025M	POLE_ENST00000535270.1_Missense_Mutation_p.V1998M|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2025					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCCTCCTCACGGGGGTGCTC	0.657								DNA polymerases (catalytic subunits)																																									0													33.0	34.0	34.0					12																	133209313		2203	4298	6501	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6073G>A	12.37:g.133209313C>T	ENSP00000322570:p.Val2025Met		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.V2025M	ENST00000320574.5	37	c.6073	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194139	0.38707	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.55234	0.53;0.53;0.53	5.58	2.28	0.28536	.	0.475968	0.23534	N	0.047149	T	0.43211	0.1237	M	0.68952	2.095	0.27346	N	0.95639	P;B	0.38280	0.625;0.359	B;B	0.32022	0.139;0.085	T	0.33497	-0.9866	10	0.37606	T	0.19	.	7.7288	0.28775	0.0:0.6154:0.1239:0.2608	.	2025;235	Q07864;B3KS74	DPOE1_HUMAN;.	M	235;2025;2036;1998	ENSP00000322570:V2025M;ENSP00000406383:V2036M;ENSP00000445753:V1998M	ENSP00000322570:V2025M	V	-	1	0	POLE	131719386	0.002000	0.14202	0.918000	0.36340	0.874000	0.50279	0.070000	0.14573	0.717000	0.32145	-0.361000	0.07541	GTG	POLE	-	NULL	ENSG00000177084		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0.00	30	0	C	NM_006231		133209313	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.351	T
PRNP	5621	genome.wustl.edu	37	20	4680105	4680105	+	Missense_Mutation	SNP	G	G	A	rs138688873		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:4680105G>A	ENST00000379440.4	+	2	526	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PRNP_ENST00000430350.2_Missense_Mutation_p.G80D	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	11						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CATGGTGGTGGCTGGGGACAG	0.642																																																	0													20.0	24.0	23.0					20																	4680105		2193	4295	6488	SO:0001583	missense	0			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.239G>A	20.37:g.4680105G>A	ENSP00000368752:p.Gly80Asp			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.G80D	ENST00000379440.4	37	c.239	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816498	0.50527	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92752	-2.89;-2.89;-3.1;-2.74	5.02	4.05	0.47172	.	0.330377	0.28176	N	0.016317	D	0.92427	0.7596	L	0.61218	1.895	0.33305	D	0.565292	P;D;B	0.55172	0.927;0.97;0.166	P;P;B	0.53224	0.543;0.721;0.124	D	0.94254	0.7496	10	0.87932	D	0	-14.0148	9.8951	0.41314	0.1002:0.0:0.8998:0.0	.	80;80;80	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	D	80;80;80;19;80	ENSP00000368752:G80D;ENSP00000399376:G80D;ENSP00000411599:G80D;ENSP00000415284:G80D	ENSP00000368752:G80D	G	+	2	0	PRNP	4628105	0.993000	0.37304	0.951000	0.38953	0.597000	0.36814	5.661000	0.68025	2.496000	0.84212	0.655000	0.94253	GGC	PRNP	-	smart_Prion,prints_Prion	ENSG00000171867		0.642	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	-	0.00	31	0	G	NM_000311		4680105	+1	tier1	-	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.894	A
PRODH2	58510	genome.wustl.edu	37	19	36303332	36303332	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:36303332G>T	ENST00000301175.3	-	3	546	c.529C>A	c.(529-531)Cgg>Agg	p.R177R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	177					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAGGGTCCGCAGCTGCTGC	0.657																																																	0													42.0	44.0	44.0					19																	36303332		2203	4300	6503	SO:0001819	synonymous_variant	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.529C>A	19.37:g.36303332G>T				Silent	SNP	pfam_Proline_DH	p.R177	ENST00000301175.3	37	c.529	CCDS12478.1	19																																																																																			PRODH2	-	NULL	ENSG00000250799		0.657	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2		0.00	60	0	G	NM_021232		36303332	-1			no_errors	ENST00000301175	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.615	T
PRRC2C	23215	genome.wustl.edu	37	1	171514802	171514802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:171514802C>T	ENST00000338920.4	+	17	5179	c.4942C>T	c.(4942-4944)Cag>Tag	p.Q1648*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.Q1650*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q1650*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q1648*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1648					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGCTCTATCACAGTTTGATCT	0.294																																																	0													68.0	66.0	67.0					1																	171514802		2203	4300	6503	SO:0001587	stop_gained	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4942C>T	1.37:g.171514802C>T	ENSP00000343629:p.Gln1648*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.Q1650*	ENST00000338920.4	37	c.4948	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	47	13.672211	0.99756	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.5	5.5	0.81552	.	0.000000	0.41500	D	0.000864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4574	0.94900	0.0:1.0:0.0:0.0	.	.	.	.	X	1650;1649;1648;1650;1648;1405	.	ENSP00000343629:Q1648X	Q	+	1	0	PRRC2C	169781426	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.484000	0.81180	2.602000	0.87976	0.644000	0.83932	CAG	PRRC2C	-	NULL	ENSG00000117523		0.294	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0.00	53	0	C	NM_015172		171514802	+1			no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T
PRRG2	5639	genome.wustl.edu	37	19	50086879	50086879	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:50086879G>C	ENST00000246794.5	+	3	335	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	56	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CTGGGACCTGGAGCTGCTCAC	0.577																																																	0													99.0	105.0	103.0					19																	50086879		2203	4300	6503	SO:0001583	missense	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.166G>C	19.37:g.50086879G>C	ENSP00000246794:p.Glu56Gln		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E56Q	ENST00000246794.5	37	c.166	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981180	0.93044	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99567	-6.18	5.87	5.87	0.94306	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.90542	3.125	0.40902	D	0.984167	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97972	1.0344	10	0.87932	D	0	-21.6936	15.7767	0.78228	0.0:0.0:1.0:0.0	.	33;56	F5GZ13;O14669	.;TMG2_HUMAN	Q	56;33	ENSP00000246794:E56Q	ENSP00000246794:E56Q	E	+	1	0	PRRG2	54778691	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.377000	0.79668	2.808000	0.96608	0.650000	0.86243	GAG	PRRG2	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	ENSG00000126460		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0.00	54	0	G	NM_000951		50086879	+1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	C
PWWP2A	114825	genome.wustl.edu	37	5	159519671	159519671	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:159519671C>T	ENST00000307063.7	-	2	2020	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	PWWP2A_ENST00000456329.3_Intron|PWWP2A_ENST00000523662.1_Intron	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	662	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCATATATCTTGGCCCAAA	0.458																																																	0													39.0	35.0	36.0					5																	159519671		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1986G>A	5.37:g.159519671C>T			G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K662	ENST00000307063.7	37	c.1986	CCDS47332.1	5																																																																																			PWWP2A	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000170234		0.458	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1		0.00	39	0	C			159519671	-1			no_errors	ENST00000307063	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T
QRSL1	55278	genome.wustl.edu	37	6	107088318	107088318	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:107088318A>T	ENST00000369046.4	+	2	223	c.119A>T	c.(118-120)tAc>tTc	p.Y40F	QRSL1_ENST00000467262.1_3'UTR|QRSL1_ENST00000369044.1_Missense_Mutation_p.Y40F	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CTAAATGCCTACATTACTGTG	0.358																																					NSCLC(192;2127 2142 11668 26277 49545)												0													79.0	78.0	79.0					6																	107088318		2203	4300	6503	SO:0001583	missense	0			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.119A>T	6.37:g.107088318A>T	ENSP00000358042:p.Tyr40Phe			Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	p.Y40F	ENST00000369046.4	37	c.119	CCDS5057.1	6	.	.	.	.	.	.	.	.	.	.	A	11.50	1.655919	0.29425	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.61158	1.7;0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.01048	-1.04	0.58432	D	0.999999	B;B	0.22683	0.018;0.073	B;B	0.28011	0.085;0.034	T	0.32348	-0.9910	10	0.02654	T	1	-6.9138	15.8485	0.78910	1.0:0.0:0.0:0.0	.	40;40	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	F	40	ENSP00000358042:Y40F;ENSP00000358040:Y40F	ENSP00000358040:Y40F	Y	+	2	0	QRSL1	107195011	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.846000	0.75399	2.148000	0.66965	0.528000	0.53228	TAC	QRSL1	-	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	ENSG00000130348		0.358	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	QRSL1	HGNC	protein_coding	OTTHUMT00000041667.1		0.00	51	0	A	NM_018292		107088318	+1			no_errors	ENST00000369046	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
RAP1GAP2	23108	genome.wustl.edu	37	17	2930267	2930267	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:2930267C>T	ENST00000254695.8	+	22	2100	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	RAP1GAP2_ENST00000540393.2_Silent_p.F651F|RAP1GAP2_ENST00000542807.1_Silent_p.F670F|RAP1GAP2_ENST00000366401.4_Silent_p.F655F	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	670	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCTCACCCTTCAAGCAGGAGG	0.692																																																	0													25.0	30.0	28.0					17																	2930267		2142	4189	6331	SO:0001819	synonymous_variant	0			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.2010C>T	17.37:g.2930267C>T			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.F670	ENST00000254695.8	37	c.2010	CCDS45573.1	17																																																																																			RAP1GAP2	-	NULL	ENSG00000132359		0.692	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0.00	65	0	C			2930267	+1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	silent	45.65	25	21	SNP	1.000	T
RBKS	64080	genome.wustl.edu	37	2	28093733	28093734	+	Intron	INS	-	-	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:28093733_28093734insT	ENST00000302188.3	-	2	842				RBKS_ENST00000444339.2_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase						D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					aaaagtgcacataacatatcct	0.426																																																	0																																										SO:0001627	intron_variant	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.90-12295->A	2.37:g.28093734_28093734dupT			A9UK04|B4DV96	Frame_Shift_Ins	INS	NULL	p.Y38fs	ENST00000302188.3	37	c.114_113	CCDS1762.1	2																																																																																			RBKS	-	NULL	ENSG00000171174		0.426	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	HGNC	protein_coding	OTTHUMT00000215118.1		0.00	19	0	-	NM_022128		28093734	-1	tier1		no_errors	ENST00000449378	ensembl	human	known	74_37	frame_shift_ins	28.57	15	6	INS	0.639:0.672	T
RDX	5962	genome.wustl.edu	37	11	110070369	110070369	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:110070369G>T	ENST00000528498.1	-	15	2092	c.1783C>A	c.(1783-1785)Cgc>Agc	p.R595S	RDX_ENST00000528900.1_Missense_Mutation_p.R248S|RDX_ENST00000530301.1_Missense_Mutation_p.R191S|RDX_ENST00000405097.1_Missense_Mutation_p.R595S	NM_001260493.1	NP_001247422.1	P35241	RADI_HUMAN	radixin	0					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		tggcaagagcgcatctggaac	0.473																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0																																										SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000528498.1:c.1783C>A	11.37:g.110070369G>T	ENSP00000432112:p.Arg595Ser		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.R595S	ENST00000528498.1	37	c.1783	CCDS58174.1	11	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649889	0.47362	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000530301	T;T;T;T	0.80738	-1.41;-1.41;0.97;-1.29	4.79	4.79	0.61399	.	.	.	.	.	D	0.85513	0.5714	.	.	.	0.80722	D	1	P;P	0.45768	0.686;0.866	B;P	0.53809	0.353;0.735	D	0.86448	0.1771	8	0.87932	D	0	.	13.6483	0.62294	0.0:0.0:1.0:0.0	.	191;595	A7YIK0;A7YIJ8	.;.	S	595;595;248;191	ENSP00000432112:R595S;ENSP00000384136:R595S;ENSP00000433580:R248S;ENSP00000436277:R191S	ENSP00000384136:R595S	R	-	1	0	RDX	109575579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.817000	0.55668	2.941000	0.99782	0.655000	0.94253	CGC	RDX	-	NULL	ENSG00000137710		0.473	RDX-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390531.1	-	0.00	53	0	G	NM_002906		110070369	-1	tier1	-	no_errors	ENST00000530749	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
RIC8B	55188	genome.wustl.edu	37	12	107208704	107208704	+	Silent	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:107208704G>C	ENST00000392839.2	+	3	469	c.363G>C	c.(361-363)ctG>ctC	p.L121L	RIC8B_ENST00000355478.2_Silent_p.L81L|RIC8B_ENST00000392837.4_Silent_p.L121L|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	121					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TAAAATGTCTGTGTAATATAG	0.428																																																	0													79.0	78.0	78.0					12																	107208704		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.363G>C	12.37:g.107208704G>C			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L121	ENST00000392839.2	37	c.363	CCDS9109.2	12																																																																																			RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold	ENSG00000111785		0.428	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	-	0.00	47	0	G	NM_018157		107208704	+1	tier1	-	no_errors	ENST00000392837	ensembl	human	known	74_37	silent	14.89	40	7	SNP	1.000	C
RNF111	54778	genome.wustl.edu	37	15	59323811	59323811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:59323811G>T	ENST00000557998.1	+	2	1077	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.E264*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.E264*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.E264*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.E264*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	264	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCTCAGCAGTGAATCCTCTTC	0.413																																					NSCLC(72;983 1365 10746 34387 47081)												0													127.0	124.0	125.0					15																	59323811		2192	4291	6483	SO:0001587	stop_gained	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.790G>T	15.37:g.59323811G>T	ENSP00000452732:p.Glu264*		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E264*	ENST00000557998.1	37	c.790	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.937429	0.99010	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.28	5.28	0.74379	.	0.162448	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1579	19.2842	0.94065	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000288199:E264X	E	+	1	0	RNF111	57111103	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.905000	0.92613	2.629000	0.89072	0.650000	0.86243	GAA	RNF111	-	NULL	ENSG00000157450		0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0.00	48	0	G	NM_017610		59323811	+1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	1.000	T
RNF148	378925	genome.wustl.edu	37	7	122342776	122342776	+	Missense_Mutation	SNP	G	G	A	rs368198874		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:122342776G>A	ENST00000434824.1	-	1	245	c.29C>T	c.(28-30)aCg>aTg	p.T10M	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.T10M|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	10						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGAACTATGCGTCGAAGGGGT	0.388																																																	0								G	,,,MET/THR	1,3723		0,1,1861	29.0	26.0	27.0		,,,29	-3.6	0.0	7		27	0,8196		0,0,4098	no	intron,intron,intron,missense	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,81	0,1,5959	AA,AG,GG		0.0,0.0269,0.0084	,,,possibly-damaging	,,,10/306	122342776	1,11919	1862	4098	5960	SO:0001583	missense	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.29C>T	7.37:g.122342776G>A	ENSP00000388207:p.Thr10Met		A4D0X4|Q8N308	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T10M	ENST00000434824.1	37	c.29	CCDS47692.1	7	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986571	0.02180	2.69E-4	0.0	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04603	3.59	5.24	-3.56	0.04626	.	.	.	.	.	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	P;P	0.39131	0.661;0.53	B;B	0.24701	0.055;0.025	T	0.40794	-0.9544	9	0.46703	T	0.11	.	1.1907	0.01864	0.2388:0.3191:0.2718:0.1702	.	10;10	C9JVJ0;Q8N7C7	.;RN148_HUMAN	M	10	ENSP00000388207:T10M	ENSP00000388207:T10M	T	-	2	0	RNF148	122130012	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.988000	0.03739	-0.310000	0.08766	0.555000	0.69702	ACG	RNF148	-	NULL	ENSG00000235631		0.388	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	-	0.00	49	0	G	NM_198085		122342776	-1	tier1	-	no_errors	ENST00000434824	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.000	A
RNLS	55328	genome.wustl.edu	37	10	90342042	90342042	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:90342042G>A	ENST00000331772.4	-	2	163	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RNLS_ENST00000437752.1_Intron|RNLS_ENST00000371947.3_Silent_p.C47C|RNLS_ENST00000466945.1_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	47					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATGAGGACTGCAGGCTGTAG	0.448																																																	0													194.0	162.0	173.0					10																	90342042		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.141C>T	10.37:g.90342042G>A			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.C47	ENST00000331772.4	37	c.141	CCDS31239.1	10																																																																																			RNLS	-	NULL	ENSG00000184719		0.448	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0.00	78	0	G	NM_018363		90342042	-1	tier1	-	no_errors	ENST00000331772	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.002	A
ROBO3	64221	genome.wustl.edu	37	11	124739843	124739843	+	Splice_Site	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:124739843G>C	ENST00000397801.1	+	4	837		c.e4-1		ROBO3_ENST00000538940.1_Splice_Site	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)						axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTGCTCTGCAGATCCGTGGAG	0.428																																																	0													50.0	52.0	52.0					11																	124739843		2022	4196	6218	SO:0001630	splice_region_variant	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.646-1G>C	11.37:g.124739843G>C				Splice_Site	SNP	-	e4-1	ENST00000397801.1	37	c.646-1	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770334	0.69992	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9552	0.89067	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ROBO3	124245053	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.692000	0.98682	2.421000	0.82119	0.462000	0.41574	.	ROBO3	-	-	ENSG00000154134		0.428	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	-	0.00	35	0	G	XM_370663	Intron	124739843	+1	tier1	-	no_errors	ENST00000397801	ensembl	human	known	74_37	splice_site	27.50	29	11	SNP	1.000	C
RTN4RL1	146760	genome.wustl.edu	37	17	1840984	1840984	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:1840984G>A	ENST00000331238.6	-	2	611	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGCTGCAAAGTTGTGCGCCT	0.682																																					GBM(68;949 1139 14865 32798 38342)												0													39.0	48.0	45.0					17																	1840984		2150	4252	6402	SO:0001819	synonymous_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.132C>T	17.37:g.1840984G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N44	ENST00000331238.6	37	c.132	CCDS45569.1	17																																																																																			RTN4RL1	-	NULL	ENSG00000185924		0.682	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0.00	60	0	G	NM_178568		1840984	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A
RUSC1	23623	genome.wustl.edu	37	1	155295178	155295178	+	Silent	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:155295178C>G	ENST00000368352.5	+	5	1756	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	RUSC1_ENST00000368354.3_Silent_p.L535L|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Silent_p.L66L|RUSC1_ENST00000368347.4_Silent_p.L125L|RUSC1_ENST00000292254.4_Silent_p.L66L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	535	Interaction with TRAF6.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCCCGGCCCTCCACGCCCTGG	0.701											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8.0	9.0	9.0					1																	155295178		2187	4270	6457	SO:0001819	synonymous_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1605C>G	1.37:g.155295178C>G		1769	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.L535	ENST00000368352.5	37	c.1605	CCDS41410.1	1																																																																																			RUSC1	-	pfam_Run,pfscan_Run	ENSG00000160753		0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	-	0.00	22	0	C			155295178	+1	tier1	-	no_errors	ENST00000368352	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.501	G
SAP30BP	29115	genome.wustl.edu	37	17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572																																																	0													118.0	85.0	96.0					17																	73702109		2203	4300	6503	SO:0001589	frameshift_variant	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.682delA	17.37:g.73702109delA	ENSP00000462116:p.Lys229fs			Frame_Shift_Del	DEL	pfam_SAP30BP	p.G230fs	ENST00000584667.1	37	c.682	CCDS11726.1	17																																																																																			SAP30BP	-	NULL	ENSG00000161526		0.572	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1		0.00	40	0	A	NM_013260		73702109	+1	tier1		no_errors	ENST00000584667	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	1.000	-
SCLT1	132320	genome.wustl.edu	37	4	129864293	129864293	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:129864293T>A	ENST00000281142.5	-	17	1993	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	497					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTCCAATACATTTTGAAGTTT	0.343																																																	0													73.0	70.0	71.0					4																	129864293		2202	4298	6500	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1490A>T	4.37:g.129864293T>A	ENSP00000281142:p.Asn497Ile		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.N497I	ENST00000281142.5	37	c.1490	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	T	8.610	0.889011	0.17540	.	.	ENSG00000151466	ENST00000281142	T	0.09538	2.97	5.31	1.57	0.23409	.	0.448580	0.26143	N	0.026100	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	0.999999	P	0.40834	0.73	B	0.37304	0.246	T	0.26780	-1.0093	9	.	.	.	-0.465	3.7234	0.08465	0.0:0.3094:0.2091:0.4815	.	497	Q96NL6	SCLT1_HUMAN	I	497	ENSP00000281142:N497I	.	N	-	2	0	SCLT1	130083743	0.624000	0.27102	0.202000	0.23494	0.433000	0.31745	0.914000	0.28624	0.333000	0.23563	0.377000	0.23210	AAT	SCLT1	-	NULL	ENSG00000151466		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	-	0.00	71	0	T	NM_144643		129864293	-1	tier1	-	no_errors	ENST00000281142	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.035	A
SEC14L1	6397	genome.wustl.edu	37	17	75186978	75186978	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:75186978C>A	ENST00000413679.2	+	4	460	c.157C>A	c.(157-159)Cat>Aat	p.H53N	SEC14L1_ENST00000436233.4_Missense_Mutation_p.H53N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.H53N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.H53N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.H19N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.H53N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.H19N|SEC14L1_ENST00000430767.4_Missense_Mutation_p.H53N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	53	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGGCTATTCATGTCATTGA	0.493																																																	0													100.0	93.0	95.0					17																	75186978		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.157C>A	17.37:g.75186978C>A	ENSP00000394716:p.His53Asn		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.H53N	ENST00000413679.2	37	c.157	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447098	0.25987	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.07	5.07	0.68467	PRELI/MSF1 (2);	0.048118	0.85682	D	0.000000	T	0.26159	0.0638	M	0.73598	2.24	0.09310	N	0.999999	B;B	0.14805	0.009;0.011	B;B	0.21151	0.019;0.033	T	0.12451	-1.0547	10	0.52906	T	0.07	-41.4965	17.8013	0.88587	0.0:1.0:0.0:0.0	.	53;53	Q92503-2;Q92503	.;S14L1_HUMAN	N	53;53;53;53;53;19	ENSP00000376268:H53N;ENSP00000406030:H53N;ENSP00000390392:H53N;ENSP00000408169:H53N;ENSP00000394716:H53N;ENSP00000389838:H19N	ENSP00000376268:H53N	H	+	1	0	SEC14L1	72698573	0.369000	0.25039	0.173000	0.22940	0.530000	0.34684	2.883000	0.48554	2.516000	0.84829	0.591000	0.81541	CAT	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000129657		0.493	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	-	0.00	56	0	C	NM_003003		75186978	+1	tier1	-	no_errors	ENST00000392476	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.039	A
SEC16A	9919	genome.wustl.edu	37	9	139368647	139368647	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:139368647G>T	ENST00000371706.3	-	1	2920	c.2887C>A	c.(2887-2889)Cca>Aca	p.P963T	SEC16A_ENST00000313050.7_Missense_Mutation_p.P1141T|SEC16A_ENST00000431893.2_Missense_Mutation_p.P963T|SEC16A_ENST00000290037.6_Missense_Mutation_p.P963T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	963	Pro-rich.|Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACTGGCTGTGGCCACGGCTGC	0.672																																																	0													22.0	28.0	26.0					9																	139368647		2051	4183	6234	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2887C>A	9.37:g.139368647G>T	ENSP00000360771:p.Pro963Thr		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P1141T	ENST00000371706.3	37	c.3421		9	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423673	0.25639	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T	0.25085	1.82;1.83;1.82;1.82	5.49	4.58	0.56647	.	0.669254	0.14624	N	0.308217	T	0.32793	0.0841	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.61080	0.981;0.989;0.989;0.966	P;P;P;P	0.55923	0.617;0.787;0.787;0.462	T	0.02263	-1.1186	10	0.30854	T	0.27	-0.317	15.0401	0.71785	0.0:0.0:0.8567:0.1433	.	1141;963;963;531	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	T	1141;963;963;963;531;65	ENSP00000325827:P1141T;ENSP00000360771:P963T;ENSP00000290037:P963T;ENSP00000387583:P963T	ENSP00000290037:P963T	P	-	1	0	SEC16A	138488468	0.980000	0.34600	0.858000	0.33744	0.174000	0.22865	2.221000	0.42917	1.421000	0.47157	0.462000	0.41574	CCA	SEC16A	-	NULL	ENSG00000148396		0.672	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0.00	44	0	G	XM_088459		139368647	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.995	T
SENP6	26054	genome.wustl.edu	37	6	76407199	76407199	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:76407199G>C	ENST00000447266.2	+	18	2732	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000370014.3_Missense_Mutation_p.E752Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	752	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGATATTTTTGAGAAGGATTT	0.303																																																	0													85.0	85.0	85.0					6																	76407199		1800	4060	5860	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2254G>C	6.37:g.76407199G>C	ENSP00000402527:p.Glu752Gln		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E752Q	ENST00000447266.2	37	c.2254	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775434	0.49786	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266;ENST00000541192	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.050931	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31804	0.96	0.41351	D	0.987361	B;B	0.32968	0.34;0.392	B;B	0.37091	0.155;0.241	T	0.04115	-1.0976	10	0.34782	T	0.22	-14.4692	15.2806	0.73781	0.0:0.1396:0.8604:0.0	.	745;752	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	745;752;752;348	ENSP00000359027:E745Q;ENSP00000359031:E752Q;ENSP00000402527:E752Q;ENSP00000441715:E348Q	ENSP00000359027:E745Q	E	+	1	0	SENP6	76463919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.962000	0.63687	2.680000	0.91292	0.655000	0.94253	GAG	SENP6	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000112701		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	-	0.00	62	0	G	NM_015571		76407199	+1	tier1	-	no_errors	ENST00000370014	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	C
SEPT2	4735	genome.wustl.edu	37	2	242287602	242287602	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:242287602C>T	ENST00000391973.2	+	11	1508	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SEPT2_ENST00000401990.1_Missense_Mutation_p.A337V|SEPT2_ENST00000360051.3_Missense_Mutation_p.A327V|SEPT2_ENST00000391971.2_Missense_Mutation_p.A327V|SEPT2_ENST00000407971.1_Missense_Mutation_p.A287V|SEPT2_ENST00000402092.2_Missense_Mutation_p.A327V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	327					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAAAAAGAAGCTGAGGTAAGT	0.403																																																	0													161.0	161.0	161.0					2																	242287602		2203	4300	6503	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.980C>T	2.37:g.242287602C>T	ENSP00000375834:p.Ala327Val		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.A327V	ENST00000391973.2	37	c.980	CCDS2548.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092987	0.76756	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.63;0.62;0.84	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.60845	1.875	0.80722	D	1	B;B;B	0.24651	0.081;0.108;0.077	B;B;B	0.21546	0.034;0.028;0.035	T	0.46965	-0.9153	10	0.59425	D	0.04	.	19.9456	0.97181	0.0:1.0:0.0:0.0	.	362;287;327	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	V	327;327;327;337;287;327;362;154	ENSP00000375834:A327V;ENSP00000353157:A327V;ENSP00000375832:A327V;ENSP00000385109:A337V;ENSP00000384525:A287V;ENSP00000385172:A327V;ENSP00000408296:A154V	ENSP00000353157:A327V	A	+	2	0	SEPT2	241936275	1.000000	0.71417	0.997000	0.53966	0.849000	0.48306	7.038000	0.76537	2.782000	0.95742	0.655000	0.94253	GCT	SEPT2	-	pirsf_Septin	ENSG00000168385		0.403	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0.00	63	0	C	NM_006155		242287602	+1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	16.00	20	4	SNP	1.000	T
SEPT5	5413	genome.wustl.edu	37	22	19705853	19705853	+	Intron	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:19705853C>T	ENST00000455784.2	+	3	179				SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000438754.2_5'Flank|SEPT5_ENST00000383045.3_5'Flank|SEPT5_ENST00000406395.1_Intron	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5						cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCCTGCCCTCCGCAGCCGCTT	0.791																																																	0													1.0	1.0	1.0					22																	19705853		114	195	309	SO:0001627	intron_variant	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.55-1272C>T	22.37:g.19705853C>T			O15251|Q96MY5	RNA	SNP	-	NULL	ENST00000455784.2	37	NULL	CCDS13764.1	22																																																																																			SEPT5	-	-	ENSG00000184702		0.791	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	-	0.00	9	0	C	NM_002688		19705853	+1	tier1	-	no_errors	ENST00000490204	ensembl	human	putative	74_37	rna	50.00	4	4	SNP	0.000	T
SIVA1	10572	genome.wustl.edu	37	14	105223046	105223046	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:105223046G>A	ENST00000329967.6	+	3	521	c.419G>A	c.(418-420)cGc>cAc	p.R140H	SIVA1_ENST00000347067.5_Missense_Mutation_p.R75H	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	140					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CAGTGTGTGCGCACCTGCTGG	0.642																																																	0													100.0	89.0	93.0					14																	105223046		2203	4300	6503	SO:0001583	missense	0			U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.419G>A	14.37:g.105223046G>A	ENSP00000329213:p.Arg140His		Q96P98|Q9UPD6	Missense_Mutation	SNP	pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd	p.R140H	ENST00000329967.6	37	c.419	CCDS9992.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657174|1.657174	0.29425|0.29425	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000556195|ENST00000329967;ENST00000347067;ENST00000553810	.|.	.|.	.|.	4.77|4.77	1.83|1.83	0.25207|0.25207	.|.	.|0.587614	.|0.16146	.|N	.|0.227487	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.20401|0.20401	0.57|0.57	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26081	.|0.141;0.098;0.141	.|B;B;B	.|0.20184	.|0.019;0.011;0.028	T|T	0.14392|0.14392	-1.0474|-1.0474	5|9	.|0.42905	.|T	.|0.14	-17.4079|-17.4079	7.8826|7.8826	0.29631|0.29631	0.3569:0.0:0.6431:0.0|0.3569:0.0:0.6431:0.0	.|.	.|140;75;140	.|B4DTY2;O15304-2;O15304	.|.;.;SIVA_HUMAN	T|H	158|140;75;140	.|.	.|ENSP00000329213:R140H	A|R	+|+	1|2	0|0	SIVA1|SIVA1	104294091|104294091	0.002000|0.002000	0.14202|0.14202	0.069000|0.069000	0.20011|0.20011	0.938000|0.938000	0.57974|0.57974	0.515000|0.515000	0.22801|0.22801	0.590000|0.590000	0.29694|0.29694	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SIVA1	-	pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd	ENSG00000184990		0.642	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIVA1	HGNC	protein_coding	OTTHUMT00000410541.1	-	0.00	63	0	G	NM_006427		105223046	+1	tier1	-	no_errors	ENST00000329967	ensembl	human	known	74_37	missense	22.54	55	16	SNP	0.035	A
SLC10A4	201780	genome.wustl.edu	37	4	48490487	48490487	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:48490487T>C	ENST00000273861.4	+	3	1064	c.845T>C	c.(844-846)aTa>aCa	p.I282T	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCTTTTCATAATGACCGGC	0.448																																																	0													174.0	176.0	175.0					4																	48490487		2203	4300	6503	SO:0001583	missense	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.845T>C	4.37:g.48490487T>C	ENSP00000273861:p.Ile282Thr		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.I282T	ENST00000273861.4	37	c.845	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	T	9.986	1.229590	0.22542	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.62	5.62	0.85841	.	0.041188	0.85682	D	0.000000	T	0.11410	0.0278	N	0.22421	0.69	0.58432	D	0.999999	B	0.28667	0.219	B	0.34873	0.191	T	0.12091	-1.0561	10	0.66056	D	0.02	-27.7477	16.1283	0.81408	0.0:0.0:0.0:1.0	.	282	Q96EP9	NTCP4_HUMAN	T	282	ENSP00000273861:I282T	ENSP00000273861:I282T	I	+	2	0	SLC10A4	48185244	1.000000	0.71417	0.980000	0.43619	0.086000	0.17979	4.775000	0.62346	2.263000	0.75096	0.533000	0.62120	ATA	SLC10A4	-	pfam_BilAc/Na_symport	ENSG00000145248		0.448	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	-	0.00	58	0	T	NM_152679		48490487	+1	tier1	-	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.997	C
SLC25A45	283130	genome.wustl.edu	37	11	65144438	65144438	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:65144438C>T	ENST00000527174.1	-	5	504	c.449G>A	c.(448-450)tGt>tAt	p.C150Y	SLC25A45_ENST00000526432.1_Missense_Mutation_p.C88Y|SLC25A45_ENST00000377152.2_Missense_Mutation_p.C46Y|SLC25A45_ENST00000398802.1_Missense_Mutation_p.C150Y|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000534028.1_Missense_Mutation_p.C126Y|SLC25A45_ENST00000417511.2_Missense_Mutation_p.C108Y|SLC25A45_ENST00000360662.3_Missense_Mutation_p.C126Y|SLC25A45_ENST00000294187.6_Missense_Mutation_p.C108Y			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	150					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGAGGCTGCACAGTGCACGGG	0.667																																																	0													28.0	32.0	31.0					11																	65144438		1850	4091	5941	SO:0001583	missense	0			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.449G>A	11.37:g.65144438C>T	ENSP00000435489:p.Cys150Tyr		Q6PL49|Q8IW29	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C150Y	ENST00000527174.1	37	c.449	CCDS41670.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601473	0.87055	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.23	5.23	0.72850	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93982	0.7259	10	0.87932	D	0	-6.8906	16.6687	0.85260	0.0:1.0:0.0:0.0	.	88;126;150	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	Y	150;126;150;126;46;108;108;88	ENSP00000435489:C150Y;ENSP00000431769:C126Y;ENSP00000381782:C150Y;ENSP00000353879:C126Y;ENSP00000366357:C46Y;ENSP00000294187:C108Y;ENSP00000407530:C108Y;ENSP00000435547:C88Y	ENSP00000294187:C108Y	C	-	2	0	SLC25A45	64901014	1.000000	0.71417	0.984000	0.44739	0.801000	0.45260	6.837000	0.75354	2.617000	0.88574	0.561000	0.74099	TGT	SLC25A45	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000162241		0.667	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A45	HGNC	protein_coding	OTTHUMT00000388744.3	-	0.00	63	0	C	NM_182556		65144438	-1	tier1	-	no_errors	ENST00000398802	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	T
SLC7A9	11136	genome.wustl.edu	37	19	33355188	33355188	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:33355188G>T	ENST00000023064.4	-	4	483	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.P98T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P98T|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	98					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATCAGGTAGGGATACTCTCCC	0.607																																					GBM(181;1335 2108 9644 44178 46689)												0													100.0	83.0	89.0					19																	33355188		2203	4300	6503	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.292C>A	19.37:g.33355188G>T	ENSP00000023064:p.Pro98Thr		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.P98T	ENST00000023064.4	37	c.292	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604538	0.14002	.	.	ENSG00000021488	ENST00000023064	D	0.88818	-2.43	5.08	5.08	0.68730	Amino acid permease domain (1);	0.095821	0.85682	D	0.000000	D	0.84297	0.5441	L	0.28458	0.855	0.58432	D	0.999998	B	0.15719	0.014	B	0.19666	0.026	T	0.78715	-0.2096	10	0.30854	T	0.27	.	18.8383	0.92171	0.0:0.0:1.0:0.0	.	98	P82251	BAT1_HUMAN	T	98	ENSP00000023064:P98T	ENSP00000023064:P98T	P	-	1	0	SLC7A9	38047028	1.000000	0.71417	0.994000	0.49952	0.128000	0.20619	2.631000	0.46502	2.530000	0.85305	0.462000	0.41574	CCC	SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.607	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0.00	42	0	G			33355188	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	T
SNAPC1	6617	genome.wustl.edu	37	14	62233649	62233649	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:62233649G>T	ENST00000216294.4	+	2	288	c.184G>T	c.(184-186)Gct>Tct	p.A62S	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	62	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTAGCTTTGGCTTGGCGATA	0.333																																					NSCLC(27;223 907 37180 39193 46568)												0													111.0	112.0	111.0					14																	62233649		2203	4300	6503	SO:0001583	missense	0			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.184G>T	14.37:g.62233649G>T	ENSP00000216294:p.Ala62Ser			Missense_Mutation	SNP	pfam_SNAPc_SNAP43	p.A62S	ENST00000216294.4	37	c.184	CCDS9755.1	14	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507665	0.64410	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.76	4.81	0.61882	.	0.142672	0.64402	D	0.000006	T	0.59238	0.2179	L	0.56124	1.755	0.52501	D	0.999953	B	0.27823	0.19	B	0.28709	0.093	T	0.59573	-0.7429	9	0.49607	T	0.09	-0.0318	15.9337	0.79686	0.0:0.0:0.8644:0.1356	.	62	Q16533	SNPC1_HUMAN	S	62	.	ENSP00000216294:A62S	A	+	1	0	SNAPC1	61303402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.584000	0.74057	2.882000	0.98803	0.655000	0.94253	GCT	SNAPC1	-	pfam_SNAPc_SNAP43	ENSG00000023608		0.333	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2		0.00	93	0	G	NM_003082		62233649	+1			no_errors	ENST00000216294	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
SNX29	92017	genome.wustl.edu	37	16	12293473	12293473	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:12293473C>T	ENST00000566228.1	+	14	1680	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	SNX29_ENST00000323433.4_Silent_p.L152L|SNX29_ENST00000306030.3_Silent_p.L152L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	537						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACGAGGTGCTCAAAGTCCAAC	0.488																																																	0													50.0	46.0	48.0					16																	12293473		1850	4103	5953	SO:0001819	synonymous_variant	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1611C>T	16.37:g.12293473C>T			B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L152	ENST00000566228.1	37	c.456	CCDS10553.2	16																																																																																			SNX29	-	NULL	ENSG00000048471		0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0.00	57	0	C			12293473	+1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	T
SON	6651	genome.wustl.edu	37	21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr21:34926719A>G	ENST00000356577.4	+	3	5657	c.5182A>G	c.(5182-5184)Att>Gtt	p.I1728V	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.I1728V|SON_ENST00000381679.4_Missense_Mutation_p.I1728V|SON_ENST00000300278.4_Missense_Mutation_p.I1728V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1728					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I1728V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TATTGAGGATATTAATGAAGC	0.433																																																	2	Substitution - Missense(2)	urinary_tract(2)											127.0	123.0	124.0					21																	34926719		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5182A>G	21.37:g.34926719A>G	ENSP00000348984:p.Ile1728Val		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.I1728V	ENST00000356577.4	37	c.5182	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.14|10.14	1.268010|1.268010	0.23136|0.23136	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.14022	.|2.77;2.75;2.73;2.54	5.58|5.58	3.23|3.23	0.37069|0.37069	.|.	0.116529|0.116529	0.38959|0.38959	N|N	0.001520|0.001520	T|T	0.21509|0.21509	0.0518|0.0518	L|L	0.50333|0.50333	1.59|1.59	0.23416|0.23416	N|N	0.99772|0.99772	.|B;B;B;B;D	.|0.58620	.|0.102;0.062;0.102;0.102;0.983	.|B;B;B;B;P	.|0.57502	.|0.08;0.036;0.08;0.08;0.822	T|T	0.01863|0.01863	-1.1258|-1.1258	6|10	.|0.62326	.|D	.|0.03	.|.	7.3308|7.3308	0.26582|0.26582	0.7129:0.1537:0.0:0.1334|0.7129:0.1537:0.0:0.1334	.|.	.|1728;1728;1409;1728;1728	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	M|V	722|1728	.|ENSP00000348984:I1728V;ENSP00000290239:I1728V;ENSP00000300278:I1728V;ENSP00000371095:I1728V	.|ENSP00000290239:I1728V	I|I	+|+	3|1	3|0	SON|SON	33848589|33848589	0.925000|0.925000	0.31364|0.31364	0.997000|0.997000	0.53966|0.53966	0.837000|0.837000	0.47467|0.47467	1.191000|1.191000	0.32138|0.32138	2.127000|2.127000	0.65507|0.65507	0.482000|0.482000	0.46254|0.46254	ATA|ATT	SON	-	NULL	ENSG00000159140		0.433	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0.00	74	0	A	NM_138927		34926719	+1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	63.64	16	28	SNP	0.757	G
SPTBN2	6712	genome.wustl.edu	37	11	66467041	66467041	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:66467041G>T	ENST00000533211.1	-	18	3943	c.3612C>A	c.(3610-3612)ctC>ctA	p.L1204L	SPTBN2_ENST00000309996.2_Silent_p.L1204L|SPTBN2_ENST00000529997.1_Silent_p.L1204L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1204					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.L1204L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CAGCAGCCTGGAGTGTCCCTG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											100.0	94.0	96.0					11																	66467041		2200	4295	6495	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3612C>A	11.37:g.66467041G>T			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1204	ENST00000533211.1	37	c.3612	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0.00	45	0	G	NM_006946		66467041	-1			no_errors	ENST00000309996	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.623	T
SPTBN4	57731	genome.wustl.edu	37	19	41008395	41008395	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:41008395G>A	ENST00000352632.3	+	10	1270	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G395D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G395D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G395D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G395D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	395					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGGCTGTGGCATCTGGGAT	0.577																																																	0													66.0	70.0	68.0					19																	41008395		2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1184G>A	19.37:g.41008395G>A	ENSP00000263373:p.Gly395Asp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G395D	ENST00000352632.3	37	c.1184	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582517	0.46006	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.48522	0.81;0.81;0.81	3.54	3.54	0.40534	.	0.246204	0.28182	U	0.016286	T	0.42131	0.1189	L	0.39147	1.195	0.80722	D	1	P;P	0.40834	0.659;0.73	B;P	0.45712	0.268;0.491	T	0.20605	-1.0270	10	0.36615	T	0.2	.	8.9056	0.35521	0.1094:0.0:0.8906:0.0	.	395;395	Q9H254;Q71S06	SPTN4_HUMAN;.	D	395	ENSP00000263373:G395D;ENSP00000340345:G395D;ENSP00000340741:G395D	ENSP00000340345:G395D	G	+	2	0	SPTBN4	45700235	0.003000	0.15002	1.000000	0.80357	0.971000	0.66376	0.679000	0.25291	2.283000	0.76528	0.563000	0.77884	GGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat	ENSG00000160460		0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	17	0	G			41008395	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A
ST5	6764	genome.wustl.edu	37	11	8732410	8732410	+	Silent	SNP	G	G	A	rs543462116		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:8732410G>A	ENST00000534127.1	-	14	2719	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G	ST5_ENST00000530991.1_Silent_p.G250G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.G358G|ST5_ENST00000526757.1_Silent_p.G358G|ST5_ENST00000534278.1_5'Flank|ST5_ENST00000357665.1_Silent_p.G778G|ST5_ENST00000526099.1_Silent_p.G291G|ST5_ENST00000313726.6_Silent_p.G778G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	778	UDENN.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCTGCAGTAGCCAAAGCGTC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17537	0.0		0.0	False		,,,				2504	0.001																0													59.0	55.0	56.0					11																	8732410		2201	4296	6497	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2334C>T	11.37:g.8732410G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G778	ENST00000534127.1	37	c.2334	CCDS7791.1	11																																																																																			ST5	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000166444		0.562	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	-	0.00	66	0	G	NM_005418		8732410	-1	tier1	-	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.999	A
STEAP4	79689	genome.wustl.edu	37	7	87913329	87913329	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:87913329A>C	ENST00000380079.4	-	2	357	c.256T>G	c.(256-258)Tat>Gat	p.Y86D	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.Y86D|STEAP4_ENST00000414498.1_Missense_Mutation_p.Y86D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	86					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGAAAATCATAATGCTCTCTG	0.408																																																	0													144.0	137.0	139.0					7																	87913329		1849	4089	5938	SO:0001583	missense	0			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.256T>G	7.37:g.87913329A>C	ENSP00000369419:p.Tyr86Asp		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.Y86D	ENST00000380079.4	37	c.256	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939415	0.73557	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.44083	0.93;0.93;0.93	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.71871	2.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.68172	-0.5479	10	0.87932	D	0	-8.1195	16.3469	0.83138	1.0:0.0:0.0:0.0	.	86;86;86	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	D	86	ENSP00000369419:Y86D;ENSP00000305545:Y86D;ENSP00000394399:Y86D	ENSP00000305545:Y86D	Y	-	1	0	STEAP4	87751265	1.000000	0.71417	0.960000	0.40013	0.951000	0.60555	9.323000	0.96364	2.263000	0.75096	0.528000	0.53228	TAT	STEAP4	-	NULL	ENSG00000127954		0.408	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	-	0.00	93	0	A	NM_024636		87913329	-1	tier1	-	no_errors	ENST00000380079	ensembl	human	known	74_37	missense	33.67	65	33	SNP	1.000	C
STK17B	9262	genome.wustl.edu	37	2	197021278	197021278	+	Silent	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:197021278G>T	ENST00000263955.4	-	3	506	c.220C>A	c.(220-222)Cga>Aga	p.R74R	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Silent_p.R74R	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTTCTGCTCGACAATCCTGT	0.363																																																	0													98.0	92.0	94.0					2																	197021278		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.220C>A	2.37:g.197021278G>T				Silent	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.R74	ENST00000263955.4	37	c.220	CCDS2315.1	2																																																																																			STK17B	-	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	ENSG00000081320		0.363	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	-	0.00	48	0	G			197021278	-1	tier1	-	no_errors	ENST00000263955	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T
SUGP1	57794	genome.wustl.edu	37	19	19416842	19416842	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:19416842G>A	ENST00000247001.5	-	4	701	c.354C>T	c.(352-354)acC>acT	p.T118T	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.T118T	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	118					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CAGCGCTGGGGGTGGGTGTGC	0.682																																																	0													9.0	11.0	10.0					19																	19416842		2110	4097	6207	SO:0001819	synonymous_variant	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.354C>T	19.37:g.19416842G>A			O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	NULL	p.P84S	ENST00000247001.5	37	c.250	CCDS12399.1	19																																																																																			SUGP1	-	NULL	ENSG00000105705		0.682	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	-	0.00	97	0	G	NM_021164		19416842	-1	tier1	-	no_errors	ENST00000587119	ensembl	human	known	74_37	missense	45.90	66	56	SNP	0.010	A
TAB2	23118	genome.wustl.edu	37	6	149730801	149730801	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:149730801G>T	ENST00000367456.1	+	8	2605	c.2028G>T	c.(2026-2028)ttG>ttT	p.L676F	TAB2_ENST00000286332.5_Missense_Mutation_p.L676F|TAB2_ENST00000538427.1_Missense_Mutation_p.L676F|TAB2_ENST00000536230.1_Missense_Mutation_p.L644F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	676	Interaction with polyubiquitin.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GTACTTTTTTGAACCATCCAG	0.428																																																	0													172.0	166.0	168.0					6																	149730801		2203	4300	6503	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.2028G>T	6.37:g.149730801G>T	ENSP00000356426:p.Leu676Phe		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.L676F	ENST00000367456.1	37	c.2028	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018854	0.54576	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.68317	2.08	0.80722	D	1	P;D	0.76494	0.849;0.999	P;D	0.91635	0.602;0.999	T	0.61628	-0.7024	10	0.87932	D	0	0.0073	8.0339	0.30480	0.1846:0.0:0.8154:0.0	.	644;676	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	F	644;676;676;676	ENSP00000443206:L644F;ENSP00000445752:L676F;ENSP00000356426:L676F;ENSP00000286332:L676F	ENSP00000286332:L676F	L	+	3	2	TAB2	149772494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.156000	0.42310	2.941000	0.99782	0.655000	0.94253	TTG	TAB2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	ENSG00000055208		0.428	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	-	0.00	70	0	G			149730801	+1	tier1	-	no_errors	ENST00000286332	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
TAPT1	202018	genome.wustl.edu	37	4	16168265	16168265	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:16168265G>T	ENST00000405303.2	-	13	1548	c.1465C>A	c.(1465-1467)Ccc>Acc	p.P489T	TAPT1_ENST00000399920.3_Missense_Mutation_p.P378T|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	489					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CCTTGAGAGGGTTTACATTTG	0.438																																																	0													182.0	194.0	190.0					4																	16168265		1976	4163	6139	SO:0001583	missense	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1465C>A	4.37:g.16168265G>T	ENSP00000385347:p.Pro489Thr		Q8N2S3|Q9NZK9	Missense_Mutation	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.P489T	ENST00000405303.2	37	c.1465	CCDS47030.1	4	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360957	0.24684	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920	T;T	0.29397	1.57;1.57	4.99	-6.57	0.01842	.	0.918823	0.09502	N	0.793414	T	0.12178	0.0296	N	0.19112	0.55	0.21020	N	0.9998	B	0.02656	0.0	B	0.01281	0.0	T	0.33803	-0.9854	10	0.12103	T	0.63	-0.8859	3.7781	0.08669	0.5535:0.0961:0.2543:0.0961	.	489	Q6NXT6	TAPT1_HUMAN	T	489;489;378	ENSP00000385347:P489T;ENSP00000382803:P378T	ENSP00000382803:P378T	P	-	1	0	TAPT1	15777363	0.018000	0.18449	0.002000	0.10522	0.808000	0.45660	-0.948000	0.03897	-0.963000	0.03600	0.650000	0.86243	CCC	TAPT1	-	NULL	ENSG00000169762		0.438	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1		0.00	105	0	G	NM_153365		16168265	-1			no_errors	ENST00000405303	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.162	T
TAS2R60	338398	genome.wustl.edu	37	7	143141198	143141198	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:143141198C>T	ENST00000332690.1	+	1	653	c.653C>T	c.(652-654)aCa>aTa	p.T218I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	218					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTGCTCATCACATCTCTGGGA	0.463																																																	0													135.0	135.0	135.0					7																	143141198		2203	4300	6503	SO:0001583	missense	0			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.653C>T	7.37:g.143141198C>T	ENSP00000327724:p.Thr218Ile		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T218I	ENST00000332690.1	37	c.653	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298642	0.23650	.	.	ENSG00000185899	ENST00000332690	T	0.35605	1.3	5.62	-2.67	0.06059	.	0.759878	0.11841	N	0.524283	T	0.19927	0.0479	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.26467	-1.0102	10	0.18710	T	0.47	.	5.8637	0.18762	0.1318:0.3375:0.0:0.5307	.	218	P59551	T2R60_HUMAN	I	218	ENSP00000327724:T218I	ENSP00000327724:T218I	T	+	2	0	TAS2R60	142851320	0.000000	0.05858	0.000000	0.03702	0.496000	0.33645	-1.436000	0.02421	-1.008000	0.03404	0.591000	0.81541	ACA	TAS2R60	-	pfam_TAS2_rcpt	ENSG00000185899		0.463	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1		0.00	22	0	C			143141198	+1			no_errors	ENST00000332690	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	T
TATDN2	9797	genome.wustl.edu	37	3	10291031	10291031	+	Silent	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:10291031C>A	ENST00000287652.4	+	2	1198	c.147C>A	c.(145-147)ccC>ccA	p.P49P	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Silent_p.P49P	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	49					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGGGCCCAGCAGCCCCA	0.667																																																	0													50.0	61.0	57.0					3																	10291031		2202	4299	6501	SO:0001819	synonymous_variant	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.147C>A	3.37:g.10291031C>A			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.P49	ENST00000287652.4	37	c.147	CCDS33698.1	3																																																																																			TATDN2	-	NULL	ENSG00000157014		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1		0.00	115	0	C	XM_376203		10291031	+1			no_errors	ENST00000287652	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.491	A
TBX20	57057	genome.wustl.edu	37	7	35242238	35242238	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:35242238A>G	ENST00000408931.3	-	8	1674	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	383					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAACCCTGGATGGGGTGAGG	0.552																																																	0													88.0	88.0	88.0					7																	35242238		1996	4168	6164	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1148T>C	7.37:g.35242238A>G	ENSP00000386170:p.Ile383Thr		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.I383T	ENST00000408931.3	37	c.1148	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332408	0.81801	.	.	ENSG00000164532	ENST00000408931	D	0.87571	-2.27	5.46	5.46	0.80206	.	0.153965	0.56097	D	0.000030	T	0.78585	0.4306	N	0.19112	0.55	0.80722	D	1	B	0.23058	0.079	B	0.18263	0.021	T	0.73729	-0.3891	10	0.23302	T	0.38	.	15.5262	0.75910	1.0:0.0:0.0:0.0	.	383	Q9UMR3	TBX20_HUMAN	T	383	ENSP00000386170:I383T	ENSP00000386170:I383T	I	-	2	0	TBX20	35208763	1.000000	0.71417	0.907000	0.35723	0.981000	0.71138	8.923000	0.92808	2.060000	0.61445	0.496000	0.49642	ATC	TBX20	-	NULL	ENSG00000164532		0.552	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0.00	82	0	A	NM_020417		35242238	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	35.53	49	27	SNP	0.998	G
TCHH	7062	genome.wustl.edu	37	1	152081784	152081784	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:152081784C>A	ENST00000368804.1	-	2	3908	c.3909G>T	c.(3907-3909)gaG>gaT	p.E1303D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1303	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCTTTTGCTCTTCTCGCT	0.547																																																	0													113.0	116.0	115.0					1																	152081784		1937	4136	6073	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3909G>T	1.37:g.152081784C>A	ENSP00000357794:p.Glu1303Asp		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E1303D	ENST00000368804.1	37	c.3909	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340016	0.41398	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.89	0.701	0.18104	.	.	.	.	.	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.16289	0.015	T	0.48536	-0.9027	9	0.19147	T	0.46	.	4.0656	0.09859	0.1589:0.5896:0.1548:0.0967	.	1303	Q07283	TRHY_HUMAN	D	1303	ENSP00000357794:E1303D	ENSP00000357794:E1303D	E	-	3	2	TCHH	150348408	0.000000	0.05858	0.006000	0.13384	0.874000	0.50279	0.043000	0.13971	0.123000	0.18342	0.563000	0.77884	GAG	TCHH	-	NULL	ENSG00000159450		0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0.00	25	0	C	NM_007113		152081784	-1			no_errors	ENST00000368804	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.002	A
TDRD1	56165	genome.wustl.edu	37	10	115961251	115961251	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:115961251C>T	ENST00000369280.1	+	5	1072	c.612C>T	c.(610-612)atC>atT	p.I204I	TDRD1_ENST00000369281.2_Silent_p.I204I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Silent_p.I204I|TDRD1_ENST00000251864.2_Silent_p.I204I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	204					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.I204I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CACACAGCATCGTGTGCAGGC	0.433																																																	1	Substitution - coding silent(1)	endometrium(1)											88.0	86.0	87.0					10																	115961251		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.612C>T	10.37:g.115961251C>T			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.I204	ENST00000369280.1	37	c.612		10																																																																																			TDRD1	-	pfam_Znf_MYND,pfscan_Znf_MYND	ENSG00000095627		0.433	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2		0.00	31	0	C			115961251	+1			no_errors	ENST00000251864	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.136	T
TET2	54790	genome.wustl.edu	37	4	106190855	106190855	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:106190855G>A	ENST00000540549.1	+	9	4993	c.4133G>A	c.(4132-4134)tGt>tAt	p.C1378Y	TET2_ENST00000380013.4_Missense_Mutation_p.C1378Y|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.C1399Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1378					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.C1378Y(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTGGACTTCTGTGCTCATGCC	0.493			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											110.0	95.0	99.0					4																	106190855		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4133G>A	4.37:g.106190855G>A	ENSP00000442788:p.Cys1378Tyr		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.C1378Y	ENST00000540549.1	37	c.4133	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343726	0.82022	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.12672	2.66;2.66;2.66	5.62	4.77	0.60923	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.41903	0.1179	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.49588	-0.8924	9	0.87932	D	0	-5.0547	16.1944	0.82018	0.0:0.1378:0.8622:0.0	.	1399;1378	E7EQS8;Q6N021	.;TET2_HUMAN	Y	1378;1399;1378	ENSP00000442788:C1378Y;ENSP00000425443:C1399Y;ENSP00000369351:C1378Y	ENSP00000369351:C1378Y	C	+	2	0	TET2	106410304	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.797000	0.85911	1.349000	0.45751	0.655000	0.94253	TGT	TET2	-	NULL	ENSG00000168769		0.493	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0.00	31	0	G	NM_017628		106190855	+1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	A
TGM1	7051	genome.wustl.edu	37	14	24724341	24724341	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:24724341C>T	ENST00000206765.6	-	12	1887	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	TGM1_ENST00000544573.1_Silent_p.A146A	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCCCCATCACCGCGTCCTGTG	0.577																																																	0													95.0	78.0	84.0					14																	24724341		2203	4300	6503	SO:0001819	synonymous_variant	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1764G>A	14.37:g.24724341C>T			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A588	ENST00000206765.6	37	c.1764	CCDS9622.1	14																																																																																			TGM1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000092295		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	-	0.00	37	0	C	NM_000359		24724341	-1	tier1	-	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	60.00	16	24	SNP	0.000	T
THOC2	57187	genome.wustl.edu	37	X	122765573	122765573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:122765573delA	ENST00000245838.8	-	22	2478	c.2447delT	c.(2446-2448)ttcfs	p.F816fs	THOC2_ENST00000491737.1_Frame_Shift_Del_p.F701fs|THOC2_ENST00000355725.4_Frame_Shift_Del_p.F816fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	816					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCTAGACAGGAAAAATGCTGC	0.378																																																	0													182.0	169.0	173.0					X																	122765573		1883	4103	5986	SO:0001589	frameshift_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2447delT	X.37:g.122765573delA	ENSP00000245838:p.Phe816fs		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Del	DEL	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.F816fs	ENST00000245838.8	37	c.2447	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3		0.00	45	0	A			122765573	-1	tier1		no_errors	ENST00000245838	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-
TMEM14E	645843	genome.wustl.edu	37	3	152058400	152058400	+	Silent	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:152058400C>T	ENST00000408960.3	-	1	379	c.294G>A	c.(292-294)ctG>ctA	p.L98L	MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000355460.2_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	98						integral component of membrane (GO:0016021)				lung(1)	1						TGGAAACTATCAGCAGGCACC	0.418																																																	0													91.0	85.0	87.0					3																	152058400		1568	3582	5150	SO:0001819	synonymous_variant	0				CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.294G>A	3.37:g.152058400C>T				Silent	SNP	pfam_UPF0136_TM	p.L98	ENST00000408960.3	37	c.294	CCDS43161.1	3																																																																																			TMEM14E	-	NULL	ENSG00000221962		0.418	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14E	HGNC	protein_coding	OTTHUMT00000356703.1	-	0.00	55	0	C	NM_001123228		152058400	-1	tier1	-	no_errors	ENST00000408960	ensembl	human	known	74_37	silent	33.96	70	36	SNP	0.011	T
TMEM180	79847	genome.wustl.edu	37	10	104228949	104228949	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:104228949G>A	ENST00000238936.4	+	3	400	c.163G>A	c.(163-165)Gga>Aga	p.G55R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.G55R|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	55						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTTCTGGGTCGGAGAGGTAGG	0.577																																																	0													112.0	107.0	109.0					10																	104228949		2203	4300	6503	SO:0001583	missense	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.163G>A	10.37:g.104228949G>A	ENSP00000238936:p.Gly55Arg		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.G55R	ENST00000238936.4	37	c.163	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300934	0.81136	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87179	-2.22	5.58	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.82517	2.595	0.80722	D	1	P;D;D	0.89917	0.696;1.0;1.0	B;D;D	0.91635	0.161;0.999;0.998	D	0.93615	0.6942	9	.	.	.	.	14.188	0.65620	0.0719:0.0:0.9281:0.0	.	55;55;55	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	R	55	ENSP00000238936:G55R	.	G	+	1	0	TMEM180	104218939	1.000000	0.71417	0.957000	0.39632	0.657000	0.38888	9.859000	0.99545	1.365000	0.46057	0.478000	0.44815	GGA	TMEM180	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138111		0.577	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	-	0.00	97	0	G	NM_024789		104228949	+1	tier1	-	no_errors	ENST00000238936	ensembl	human	known	74_37	missense	41.51	62	44	SNP	1.000	A
TOMM7	54543	genome.wustl.edu	37	7	22857031	22857031	+	Intron	DEL	T	T	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:22857031delT	ENST00000358435.4	-	2	224				TOMM7_ENST00000463284.1_Intron|TOMM7_ENST00000372879.4_Splice_Site_p.T97fs|TOMM7_ENST00000405021.3_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AATTATTTACttttttttttt	0.378																																																	0																																										SO:0001627	intron_variant	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+587A>-	7.37:g.22857031delT			O95939	Frame_Shift_Del	DEL	pfam_Tom7	p.T97fs	ENST00000358435.4	37	c.289	CCDS5376.1	7																																																																																			TOMM7	-	NULL	ENSG00000196683		0.378	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1		0.00	39	0	T	NM_019059		22857031	-1	tier1		no_errors	ENST00000372879	ensembl	human	putative	74_37	frame_shift_del	10.81	33	4	DEL	0.100	-
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	83	0	G	NM_000546		7577022	-1	tier1	rs121913344	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	58.70	18	27	SNP	1.000	A
TPCN2	219931	genome.wustl.edu	37	11	68825136	68825136	+	Missense_Mutation	SNP	G	G	A	rs150917419		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:68825136G>A	ENST00000294309.3	+	5	621	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.V174M	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	174					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGACTGGACCGTGTCCCTGAG	0.597																																																	0								G	MET/VAL	1,4399	2.1+/-5.4	0,1,2199	238.0	166.0	190.0		520	3.5	1.0	11	dbSNP_134	190	0,8588		0,0,4294	no	missense	TPCN2	NM_139075.3	21	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	174/753	68825136	1,12987	2200	4294	6494	SO:0001583	missense	0			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.520G>A	11.37:g.68825136G>A	ENSP00000294309:p.Val174Met		Q9NT82	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V174M	ENST00000294309.3	37	c.520	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063782	0.55432	2.27E-4	0.0	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98550	-4.99;-4.99	4.46	3.49	0.39957	Ion transport (1);	0.079085	0.50627	D	0.000105	D	0.98642	0.9545	M	0.79123	2.44	0.46954	D	0.999264	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76575	0.988;0.979;0.941	D	0.98979	1.0804	10	0.87932	D	0	-31.8975	13.2545	0.60070	0.0:0.1603:0.8397:0.0	.	174;174;89	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	M	104;174;89;174	ENSP00000294309:V174M;ENSP00000445551:V174M	ENSP00000294309:V174M	V	+	1	0	TPCN2	68581712	0.981000	0.34729	0.958000	0.39756	0.804000	0.45430	1.811000	0.38942	2.037000	0.60232	0.462000	0.41574	GTG	TPCN2	-	pfam_Ion_trans_dom	ENSG00000162341		0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	HGNC	protein_coding	OTTHUMT00000396878.2	-	0.00	78	0	G	NM_139075		68825136	+1	tier1	rs150917419	no_errors	ENST00000294309	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.932	A
TRMT11	60487	genome.wustl.edu	37	6	126334176	126334176	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:126334176G>A	ENST00000334379.5	+	11	1189	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	TRMT11_ENST00000368332.3_Silent_p.L356L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	356					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTCTTGACCTGTTAAACTTCG	0.348																																																	0													136.0	118.0	124.0					6																	126334176		2203	4300	6503	SO:0001819	synonymous_variant	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1068G>A	6.37:g.126334176G>A			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.L356	ENST00000334379.5	37	c.1068	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	7.245	0.602030	0.13939	.	.	ENSG00000066651	ENST00000453993	.	.	.	5.71	0.0321	0.14174	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15896	-1.0421	4	.	.	.	-6.8189	3.7199	0.08452	0.2446:0.1738:0.4849:0.0966	.	.	.	.	I	152	.	.	V	+	1	0	TRMT11	126375869	0.998000	0.40836	0.993000	0.49108	0.749000	0.42624	0.482000	0.22276	0.058000	0.16222	-0.244000	0.11960	GTT	TRMT11	-	pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	ENSG00000066651		0.348	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0.00	81	0	G	NM_021820		126334176	+1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.903	A
TTN	7273	genome.wustl.edu	37	2	179543233	179543233	+	Intron	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:179543233delA	ENST00000591111.1	-	142	33100				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTAACGAAATGATTTAG	0.378																																																	0													27.0	25.0	25.0					2																	179543233		1818	4076	5894	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32876-9T>-	2.37:g.179543233delA			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	DEL	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-	ENSG00000237298		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	68	0	A	NM_133378		179543233	+1	tier1		no_errors	ENST00000589487	ensembl	human	known	74_37	rna	31.52	63	29	DEL	0.434	-
TTN	7273	genome.wustl.edu	37	2	179596473	179596473	+	Missense_Mutation	SNP	C	C	G	rs200018866		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:179596473C>G	ENST00000591111.1	-	56	16402	c.16178G>C	c.(16177-16179)cGg>cCg	p.R5393P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R5710P|TTN_ENST00000342992.6_Missense_Mutation_p.R4466P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12212	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGTCACCCGACACTGGTA	0.488																																																	0													99.0	100.0	100.0					2																	179596473		1951	4145	6096	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16178G>C	2.37:g.179596473C>G	ENSP00000465570:p.Arg5393Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R4466P	ENST00000591111.1	37	c.13397		2	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116672	0.20795	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81754	0.4889	M	0.82716	2.605	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	D	0.83528	0.0089	9	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	5393	Q8WZ42	TITIN_HUMAN	P	4466	ENSP00000343764:R4466P	ENSP00000343764:R4466P	R	-	2	0	TTN	179304718	0.617000	0.27043	1.000000	0.80357	0.999000	0.98932	0.882000	0.28186	2.826000	0.97356	0.655000	0.94253	CGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	18	0	C	NM_133378		179596473	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G
TUBB6	84617	genome.wustl.edu	37	18	12310963	12310963	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:12310963C>T	ENST00000317702.5	+	3	422	c.188C>T	c.(187-189)gCc>gTc	p.A63V	TUBB6_ENST00000591208.1_Missense_Mutation_p.A63V|TUBB6_ENST00000591909.1_Missense_Mutation_p.A63V|TUBB6_ENST00000592683.1_Missense_Mutation_p.A63V|TUBB6_ENST00000590967.1_Missense_Mutation_p.A63V|TUBB6_ENST00000586653.1_Missense_Mutation_p.A63V			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	63					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GTGCCCAGGGCCGCCCTGGTG	0.522																																																	0													75.0	69.0	71.0					18																	12310963		2203	4300	6503	SO:0001583	missense	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.188C>T	18.37:g.12310963C>T	ENSP00000318697:p.Ala63Val		B3KM76|Q9HA42	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.A63V	ENST00000317702.5	37	c.188	CCDS11858.1	18	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419500	0.83559	.	.	ENSG00000176014	ENST00000317702;ENST00000445717	T	0.70631	-0.5	4.82	4.82	0.62117	Tubulin/FtsZ, GTPase domain (4);	0.111999	0.64402	D	0.000011	T	0.81484	0.4832	H	0.95079	3.62	0.80722	D	1	D	0.53462	0.96	B	0.43251	0.413	D	0.88492	0.3076	10	0.87932	D	0	.	18.063	0.89383	0.0:1.0:0.0:0.0	.	63	Q9BUF5	TBB6_HUMAN	V	63	ENSP00000318697:A63V	ENSP00000318697:A63V	A	+	2	0	TUBB6	12300963	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	7.297000	0.78799	2.661000	0.90470	0.655000	0.94253	GCC	TUBB6	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000176014		0.522	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	HGNC	protein_coding	OTTHUMT00000254600.2	-	0.00	60	0	C	NM_032525		12310963	+1	tier1	-	no_errors	ENST00000317702	ensembl	human	known	74_37	missense	66.67	15	30	SNP	1.000	T
UBQLN2	29978	genome.wustl.edu	37	X	56591895	56591895	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:56591895C>G	ENST00000338222.5	+	1	1870	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	530					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TCCACCGGCTCTGGTGGCCCC	0.612																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													9.0	10.0	9.0					X																	56591895		2177	4261	6438	SO:0001583	missense	0			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1589C>G	X.37:g.56591895C>G	ENSP00000345195:p.Ser530Cys		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S530C	ENST00000338222.5	37	c.1589	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922885	0.18056	.	.	ENSG00000188021	ENST00000338222	D	0.85955	-2.05	4.18	4.18	0.49190	.	0.287960	0.23291	N	0.049794	T	0.76863	0.4047	N	0.24115	0.695	0.28156	N	0.929201	B	0.23442	0.085	B	0.30943	0.122	T	0.71606	-0.4542	10	0.56958	D	0.05	-0.8127	10.8125	0.46555	0.0:1.0:0.0:0.0	.	530	Q9UHD9	UBQL2_HUMAN	C	530	ENSP00000345195:S530C	ENSP00000345195:S530C	S	+	2	0	UBQLN2	56608620	0.983000	0.35010	0.991000	0.47740	0.872000	0.50106	3.858000	0.55979	2.316000	0.78162	0.594000	0.82650	TCT	UBQLN2	-	NULL	ENSG00000188021		0.612	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	-	0.00	37	0	C	NM_013444		56591895	+1	tier1	-	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	65.00	7	13	SNP	0.930	G
VCAM1	7412	genome.wustl.edu	37	1	101198095	101198095	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:101198095G>T	ENST00000294728.2	+	7	1748	c.1647G>T	c.(1645-1647)caG>caT	p.Q549H	VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457H|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487H|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAGCAGGCAGCTCCCTAACG	0.473																																																	0													45.0	48.0	47.0					1																	101198095		2203	4300	6503	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1647G>T	1.37:g.101198095G>T	ENSP00000294728:p.Gln549His		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.Q549H	ENST00000294728.2	37	c.1647	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	2.825	-0.243897	0.05906	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.57	0.933	0.19471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.051540	0.07249	N	0.865631	T	0.07683	0.0193	L	0.28458	0.855	0.09310	N	1	P;B;P	0.45240	0.854;0.067;0.854	P;B;P	0.59948	0.764;0.103;0.866	T	0.29458	-1.0011	10	0.45353	T	0.12	0.4401	0.7875	0.01051	0.3017:0.1475:0.3776:0.1732	.	487;457;549	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	H	487;457;549;350	ENSP00000359137:Q487H;ENSP00000304611:Q457H;ENSP00000294728:Q549H;ENSP00000359133:Q350H	ENSP00000294728:Q549H	Q	+	3	2	VCAM1	100970683	0.000000	0.05858	0.311000	0.25182	0.087000	0.18053	-0.007000	0.12810	0.378000	0.24764	0.655000	0.94253	CAG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162692		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0.00	50	0	G	NM_001078		101198095	+1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.016	T
VPS13B	157680	genome.wustl.edu	37	8	100523600	100523600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:100523600delA	ENST00000358544.2	+	29	4679	c.4568delA	c.(4567-4569)caafs	p.Q1523fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q1498fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1523					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAAAGACCCAAAAAGAGAAA	0.353																																					Colon(161;2205 2542 7338 31318)												0													54.0	52.0	53.0					8																	100523600		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4568delA	8.37:g.100523600delA	ENSP00000351346:p.Gln1523fs		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	pfam_Autophagy-rel_C	p.E1525fs	ENST00000358544.2	37	c.4568	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0.00	31	0	A	NM_184042		100523600	+1	tier1		no_errors	ENST00000358544	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-
VPS26B	112936	genome.wustl.edu	37	11	134114931	134114931	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:134114931T>A	ENST00000281187.5	+	5	1299	c.821T>A	c.(820-822)cTg>cAg	p.L274Q	VPS26B_ENST00000525095.2_Missense_Mutation_p.L274Q	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	274					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TACCTCAACCTGGTGCTGATA	0.607											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(171;1263 1952 15904 45703 47982)												0													87.0	75.0	79.0					11																	134114931		2201	4297	6498	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.821T>A	11.37:g.134114931T>A	ENSP00000281187:p.Leu274Gln	1608	Q96A55	Missense_Mutation	SNP	pfam_VPS26,superfamily_Ig_E-set	p.L274Q	ENST00000281187.5	37	c.821	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979969	0.92982	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91406	0.5147	9	0.87932	D	0	-21.506	15.5689	0.76317	0.0:0.0:0.0:1.0	.	274	Q4G0F5	VP26B_HUMAN	Q	274;273	.	ENSP00000281187:L274Q	L	+	2	0	VPS26B	133620141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.266000	0.75297	0.533000	0.62120	CTG	VPS26B	-	pfam_VPS26	ENSG00000151502		0.607	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1		0.00	61	0	T	NM_052875		134114931	+1			no_errors	ENST00000281187	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A
VPS45	11311	genome.wustl.edu	37	1	150082617	150082617	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:150082617G>A	ENST00000369130.3	+	14	2046	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.Q395Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	500					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGACCTCAGGATATCATTG	0.378																																																	0													74.0	75.0	75.0					1																	150082617		2203	4300	6503	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1500G>A	1.37:g.150082617G>A			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.Q500	ENST00000369130.3	37	c.1500	CCDS944.1	1																																																																																			VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.378	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	-	0.00	66	0	G	NM_007259		150082617	+1	tier1	-	no_errors	ENST00000369130	ensembl	human	known	74_37	silent	28.12	69	27	SNP	1.000	A
CFAP44	55779	genome.wustl.edu	37	3	113045421	113045421	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:113045421G>T	ENST00000393845.2	-	28	4453	c.4387C>A	c.(4387-4389)Caa>Aaa	p.Q1463K	WDR52_ENST00000308346.6_Missense_Mutation_p.Q66K	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCCTTTTCTTGCTCCTGGAGT	0.338																																																	0													212.0	164.0	179.0					3																	113045421		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.4387C>A	3.37:g.113045421G>T	ENSP00000377428:p.Gln1463Lys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1463K	ENST00000393845.2	37	c.4387	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.26|10.26	1.300146|1.300146	0.23650|0.23650	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845;ENST00000308346	.|T;T	.|0.52057	.|2.63;0.68	5.31|5.31	4.44|4.44	0.53790|0.53790	.|.	.|0.348517	.|0.32314	.|N	.|0.006265	T|T	0.27765|0.27765	0.0683|0.0683	L|L	0.31420|0.31420	0.93|0.93	0.29336|0.29336	N|N	0.866333|0.866333	.|B	.|0.11235	.|0.004	.|B	.|0.15052	.|0.012	T|T	0.29212|0.29212	-1.0019|-1.0019	5|10	.|0.02654	.|T	.|1	-22.4831|-22.4831	6.619|6.619	0.22792|0.22792	0.0703:0.129:0.6672:0.1335|0.0703:0.129:0.6672:0.1335	.|.	.|1463	.|Q96MT7-2	.|.	E|K	599|1463;66	.|ENSP00000377428:Q1463K;ENSP00000311497:Q66K	.|ENSP00000311497:Q66K	A|Q	-|-	2|1	0|0	WDR52|WDR52	114528111|114528111	1.000000|1.000000	0.71417|0.71417	0.816000|0.816000	0.32577|0.32577	0.888000|0.888000	0.51559|0.51559	3.516000|3.516000	0.53436|0.53436	1.366000|1.366000	0.46076|0.46076	-0.273000|-0.273000	0.10243|0.10243	GCA|CAA	WDR52	-	NULL	ENSG00000206530		0.338	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding			0.00	51	0	G			113045421	-1			no_errors	ENST00000393845	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.815	T
WWP1	11059	genome.wustl.edu	37	8	87393820	87393820	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:87393820T>A	ENST00000517970.1	+	5	603	c.296T>A	c.(295-297)aTa>aAa	p.I99K	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.I99K|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.I99K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	99					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						AAAGCAACGATAGATTTGAAA	0.328																																																	0													63.0	66.0	65.0					8																	87393820		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.296T>A	8.37:g.87393820T>A	ENSP00000427793:p.Ile99Lys		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.I99K	ENST00000517970.1	37	c.296	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	T	16.28	3.080004	0.55753	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.71341	-0.56;-0.56;-0.56	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.479050	0.21518	N	0.073280	T	0.61148	0.2324	N	0.24115	0.695	0.80722	D	1	B	0.23185	0.081	B	0.29440	0.102	T	0.62393	-0.6864	10	0.87932	D	0	.	14.6957	0.69121	0.0:0.0:0.0:1.0	.	99	Q9H0M0	WWP1_HUMAN	K	99	ENSP00000427793:I99K;ENSP00000265428:I99K;ENSP00000340564:I99K	ENSP00000265428:I99K	I	+	2	0	WWP1	87462936	1.000000	0.71417	0.874000	0.34290	0.854000	0.48673	7.092000	0.76930	1.924000	0.55735	0.383000	0.25322	ATA	WWP1	-	superfamily_C2_dom,smart_C2_dom	ENSG00000123124		0.328	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1	-	0.00	53	0	T	NM_007013		87393820	+1	tier1	-	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.993	A
XPO1	7514	genome.wustl.edu	37	2	61725817	61725817	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:61725817C>G	ENST00000401558.2	-	9	1477	c.750G>C	c.(748-750)ttG>ttC	p.L250F	XPO1_ENST00000406957.1_Missense_Mutation_p.L250F|XPO1_ENST00000404992.2_Missense_Mutation_p.L250F	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	250	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCTTATAAATCAATGTGCTGA	0.358			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													80.0	82.0	82.0					2																	61725817		2203	4300	6503	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.750G>C	2.37:g.61725817C>G	ENSP00000384863:p.Leu250Phe		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L250F	ENST00000401558.2	37	c.750	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405669	0.62288	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.71103	-0.54;-0.54;-0.54	5.62	1.69	0.24217	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83022	0.5164	M	0.93550	3.43	0.54753	D	0.999982	D	0.89917	1.0	D	0.77557	0.99	T	0.76828	-0.2815	10	0.45353	T	0.12	-8.9333	2.2426	0.04024	0.1262:0.1388:0.1314:0.6037	.	250	O14980	XPO1_HUMAN	F	250	ENSP00000384863:L250F;ENSP00000385942:L250F;ENSP00000385559:L250F	ENSP00000384863:L250F	L	-	3	2	XPO1	61579321	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	1.958000	0.40402	0.041000	0.15688	-0.312000	0.09012	TTG	XPO1	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000082898		0.358	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	-	0.00	45	0	C	NM_003400		61725817	-1	tier1	-	no_errors	ENST00000401558	ensembl	human	known	74_37	missense	40.00	33	22	SNP	1.000	G
YLPM1	56252	genome.wustl.edu	37	14	75266005	75266005	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:75266005G>A	ENST00000325680.7	+	5	4129	c.4005G>A	c.(4003-4005)ccG>ccA	p.P1335P	YLPM1_ENST00000238571.3_Silent_p.P1140P|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1140					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)		CACCTTTACCGCCCCTCCCAC	0.463																																																	0													118.0	117.0	117.0					14																	75266005		1899	4120	6019	SO:0001819	synonymous_variant	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	ENST00000325680.7:c.4005G>A	14.37:g.75266005G>A			P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_P-loop_NTPase	p.P1335	ENST00000325680.7	37	c.4005	CCDS45135.1	14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.463	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	-	0.00	35	0	G	NM_019589		75266005	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	A
ZC3H12B	340554	genome.wustl.edu	37	X	64709053	64709053	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:64709053G>A	ENST00000338957.4	+	1	439	c.372G>A	c.(370-372)caG>caA	p.Q124Q	ZC3H12B_ENST00000423889.3_Silent_p.Q113Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	124							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGAGGAACAGATTCAATCAG	0.448																																																	0													97.0	95.0	96.0					X																	64709053		1973	4143	6116	SO:0001819	synonymous_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.372G>A	X.37:g.64709053G>A			B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.Q124	ENST00000338957.4	37	c.372	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0.00	16	0	G	XM_293334		64709053	+1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	silent	81.82	2	9	SNP	1.000	A
ZCCHC11	23318	genome.wustl.edu	37	1	52940528	52940528	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:52940528A>C	ENST00000371544.3	-	13	2965	c.2703T>G	c.(2701-2703)gaT>gaG	p.D901E	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D901E|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	901					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAATAAACTTATCAAACACAT	0.343																																																	0													56.0	60.0	58.0					1																	52940528		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2703T>G	1.37:g.52940528A>C	ENSP00000360599:p.Asp901Glu		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D901E	ENST00000371544.3	37	c.2703	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381181	0.61845	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.50001	0.8;0.8;0.8;0.76	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	L	0.60455	1.87	0.80722	D	1	P;D	0.63046	0.885;0.992	B;P	0.54544	0.444;0.755	T	0.52931	-0.8509	10	0.33141	T	0.24	.	10.0152	0.42010	0.9242:0.0:0.0758:0.0	.	660;901	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	901;901;830;660	ENSP00000257177:D901E;ENSP00000360599:D901E;ENSP00000433486:D830E;ENSP00000435256:D660E	ENSP00000257177:D901E	D	-	3	2	ZCCHC11	52713116	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.198000	0.51035	2.071000	0.62044	0.455000	0.32223	GAT	ZCCHC11	-	NULL	ENSG00000134744		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0.00	36	0	A	XM_038288		52940528	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	80.00	3	12	SNP	1.000	C
ZFHX4	79776	genome.wustl.edu	37	8	77775618	77775618	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:77775618C>T	ENST00000521891.2	+	11	10116	c.9668C>T	c.(9667-9669)tCa>tTa	p.S3223L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3174L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3178L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3197L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAAAATCTCATCTGCTCTT	0.423										HNSCC(33;0.089)																																							0													139.0	133.0	135.0					8																	77775618		1872	4109	5981	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9668C>T	8.37:g.77775618C>T	ENSP00000430497:p.Ser3223Leu		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3223L	ENST00000521891.2	37	c.9668	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168524	0.38315	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.72	4.71	3.81	0.43845	.	0.000000	0.35096	U	0.003444	T	0.57519	0.2059	M	0.63843	1.955	0.42650	D	0.993444	D	0.62365	0.991	P	0.53401	0.725	T	0.65047	-0.6263	10	0.66056	D	0.02	.	15.212	0.73230	0.0:0.8587:0.1413:0.0	.	3178	Q86UP3-4	.	L	3223;3207;3178;3174;3197	ENSP00000430497:S3223L;ENSP00000399605:S3178L;ENSP00000050961:S3174L;ENSP00000430848:S3197L	ENSP00000050961:S3174L	S	+	2	0	ZFHX4	77938173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.301000	0.72782	1.315000	0.45114	0.561000	0.74099	TCA	ZFHX4	-	NULL	ENSG00000091656		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0.00	40	0	C	NM_024721		77775618	+1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	T
ZNF234	10780	genome.wustl.edu	37	19	44660752	44660752	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:44660752C>G	ENST00000426739.2	+	6	841	c.583C>G	c.(583-585)Caa>Gaa	p.Q195E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q195E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	195					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATATTCATCAAAGAGTCCA	0.413																																																	0													147.0	150.0	149.0					19																	44660752		2203	4300	6503	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.583C>G	19.37:g.44660752C>G	ENSP00000400878:p.Gln195Glu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.Q195E	ENST00000426739.2	37	c.583	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779838	0.49891	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.17854	2.25	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22513	0.0543	N	0.10760	0.04	0.22199	N	0.99929	D	0.58620	0.983	D	0.66602	0.945	T	0.32161	-0.9917	9	0.52906	T	0.07	.	15.8671	0.79074	0.0:1.0:0.0:0.0	.	195	Q14588	ZN234_HUMAN	E	195;24	ENSP00000400878:Q195E	ENSP00000400878:Q195E	Q	+	1	0	ZNF226	49352592	0.001000	0.12720	0.198000	0.23420	0.756000	0.42949	1.669000	0.37492	2.330000	0.79161	0.586000	0.80456	CAA	ZNF234	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0.00	118	0	C			44660752	+1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	43.40	60	46	SNP	0.991	G
ZNF248	57209	genome.wustl.edu	37	10	38121012	38121012	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:38121012G>A	ENST00000395867.3	-	6	1821	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.T424I|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTGATGGTTGGTCAGGTGTGG	0.433																																																	0													136.0	135.0	135.0					10																	38121012		2203	4299	6502	SO:0001583	missense	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1271C>T	10.37:g.38121012G>A	ENSP00000379208:p.Thr424Ile		Q8NDV8|Q9UMP3	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.T424I	ENST00000395867.3	37	c.1271	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491945	0.26774	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.07688	3.17;3.17	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000101	T	0.05090	0.0136	N	0.10664	0.02	0.33623	D	0.605125	P	0.46457	0.878	P	0.45660	0.489	T	0.30995	-0.9959	10	0.10377	T	0.69	.	10.5939	0.45325	0.0:0.0:0.8079:0.1921	.	424	Q8NDW4	ZN248_HUMAN	I	424	ENSP00000379208:T424I;ENSP00000349882:T424I	ENSP00000349882:T424I	T	-	2	0	ZNF248	38161018	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.639000	0.24690	2.619000	0.88677	0.650000	0.86243	ACC	ZNF248	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198105		0.433	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1		0.00	87	0	G	NM_021045		38121012	-1			no_errors	ENST00000357328	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.979	A
ZNF287	57336	genome.wustl.edu	37	17	16456271	16456271	+	Silent	SNP	C	C	T	rs142954560		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:16456271C>T	ENST00000395824.1	-	6	1802	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	ZNF287_ENST00000395825.3_Silent_p.S395S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	388					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CACATTCATACGATTTCTCTT	0.413																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	181.0	167.0	172.0		1185	-3.6	0.3	17	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ZNF287	NM_020653.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		395/762	16456271	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1185G>A	17.37:g.16456271C>T			Q6IAG1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S395	ENST00000395824.1	37	c.1185	CCDS11179.2	17																																																																																			ZNF287	-	pfscan_Znf_C2H2	ENSG00000141040		0.413	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0.00	60	0	C			16456271	-1	tier1	rs142954560	no_errors	ENST00000395824	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.021	T
ZNF331	55422	genome.wustl.edu	37	19	54081018	54081018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:54081018G>T	ENST00000253144.9	+	7	2537	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E402*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E402*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	402					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)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CGTGAAACATGAGAGAATTCA	0.483			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													58.0	58.0	58.0					19																	54081018		2203	4300	6503	SO:0001587	stop_gained	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1204G>T	19.37:g.54081018G>T	ENSP00000253144:p.Glu402*		Q96GJ4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E402*	ENST00000253144.9	37	c.1204	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986286	0.93044	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	3.77	2.73	0.32206	.	0.000000	0.35349	N	0.003269	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	4.7856	0.13223	0.1217:0.2252:0.653:0.0	.	.	.	.	X	402	.	ENSP00000253144:E402X	E	+	1	0	ZNF331	58772830	0.000000	0.05858	0.045000	0.18777	0.599000	0.36880	0.306000	0.19279	2.100000	0.63781	0.655000	0.94253	GAG	ZNF331	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.483	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	-	0.00	40	0	G	NM_018555		54081018	+1	tier1	-	no_errors	ENST00000253144	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.600	T
ZNF410	57862	genome.wustl.edu	37	14	74376101	74376101	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:74376101C>A	ENST00000555044.1	+	8	1165	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S324Y|ZNF410_ENST00000540593.1_Missense_Mutation_p.S251Y|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.S341Y|ZNF410_ENST00000334521.4_Missense_Mutation_p.S271Y|Y_RNA_ENST00000362602.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGAGTATTCTAGCCTCCGA	0.428																																																	0													174.0	175.0	174.0					14																	74376101		2203	4300	6503	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.971C>A	14.37:g.74376101C>A	ENSP00000451763:p.Ser324Tyr		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S324Y	ENST00000555044.1	37	c.971	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655681	0.88056	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;3.18	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000810	T	0.55210	0.1906	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.997;0.998;0.995	D;D;D;D;D;D	0.79784	0.991;0.993;0.987;0.991;0.991;0.979	T	0.56226	-0.8014	10	0.72032	D	0.01	.	16.8668	0.86030	0.0:1.0:0.0:0.0	.	324;251;341;324;313;324	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	Y	251;324;313;341;324;271;55	ENSP00000442228:S251Y;ENSP00000323293:S324Y;ENSP00000407130:S341Y;ENSP00000451763:S324Y;ENSP00000334170:S271Y;ENSP00000451748:S55Y	ENSP00000323293:S324Y	S	+	2	0	ZNF410	73445854	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.678000	0.74508	2.648000	0.89879	0.655000	0.94253	TCT	ZNF410	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.428	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0.00	73	0	C	NM_021188		74376101	+1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	missense	42.11	44	32	SNP	1.000	A
ZNF511	118472	genome.wustl.edu	37	10	135125270	135125270	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:135125270A>G	ENST00000359035.3	+	5	608	c.605A>G	c.(604-606)gAg>gGg	p.E202G	TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.E202G|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.E137G			Q8NB15	ZN511_HUMAN	zinc finger protein 511	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCAGAAGGGGAGGCCATGGAA	0.622																																																	0													75.0	77.0	76.0					10																	135125270		2203	4300	6503	SO:0001583	missense	0			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.605A>G	10.37:g.135125270A>G	ENSP00000351929:p.Glu202Gly		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E137G	ENST00000359035.3	37	c.410		10	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589485	0.46214	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88896	-2.44;-2.44;-2.44	4.23	4.23	0.50019	.	0.295540	0.31495	N	0.007545	T	0.81245	0.4782	L	0.34521	1.04	0.09310	N	0.999999	B;P	0.42692	0.372;0.787	B;B	0.36666	0.114;0.23	T	0.74746	-0.3561	10	0.42905	T	0.14	-5.6786	11.3974	0.49849	1.0:0.0:0.0:0.0	.	202;202	Q8NB15;Q8NB15-2	ZN511_HUMAN;.	G	202;202;137	ENSP00000355251:E202G;ENSP00000351929:E202G;ENSP00000357542:E137G	ENSP00000351929:E202G	E	+	2	0	ZNF511	134975260	0.982000	0.34865	0.099000	0.21106	0.405000	0.30901	3.793000	0.55484	1.866000	0.54105	0.533000	0.62120	GAG	ZNF511	-	NULL	ENSG00000198546		0.622	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	-	0.00	28	0	A	NM_145806		135125270	+1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.282	G
ZNF568	374900	genome.wustl.edu	37	19	37487497	37487497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:37487497C>T	ENST00000455427.2	+	9	1041	c.712C>T	c.(712-714)Caa>Taa	p.Q238*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTCCTATTCAACATGAAAT	0.373																																																	0																																										SO:0001587	stop_gained	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.712C>T	19.37:g.37487497C>T	ENSP00000413396:p.Gln238*		B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q238*	ENST00000455427.2	37	c.712	CCDS56093.1	19	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228560	0.58777	.	.	ENSG00000198453	ENST00000444991;ENST00000455427;ENST00000433993	.	.	.	3.98	-2.92	0.05615	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	6.909	0.24325	0.0:0.4029:0.415:0.1821	.	.	.	.	X	302;238;170	.	ENSP00000399643:Q170X	Q	+	1	0	ZNF568	42179337	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.897000	0.00339	-0.138000	0.11434	0.603000	0.83216	CAA	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.373	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	-	0.00	47	0	C	NM_198539		37487497	+1	tier1	-	no_errors	ENST00000455427	ensembl	human	known	74_37	nonsense	44.44	15	12	SNP	0.000	T
ZNF577	84765	genome.wustl.edu	37	19	52383581	52383581	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:52383581C>G	ENST00000301399.5	-	4	420	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R	ZNF577_ENST00000412216.1_Missense_Mutation_p.G19R|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.G19R|ZNF577_ENST00000451628.2_Missense_Mutation_p.G19R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		tttacctcccctgaagaactg	0.413																																																	0													264.0	242.0	249.0					19																	52383581		2203	4300	6503	SO:0001583	missense	0			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.55G>C	19.37:g.52383581C>G	ENSP00000301399:p.Gly19Arg		A8K0B4|A8K6Z7|C9JFB9	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.G19R	ENST00000301399.5	37	c.55	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	2.076	-0.411812	0.04799	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T	0.06371	5.71;3.31;3.39;3.39;3.31;4.35;4.15	1.95	-0.525	0.11917	Krueppel-associated box (1);	.	.	.	.	T	0.03178	0.0093	N	0.11064	0.09	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.47971	-0.9075	9	0.20519	T	0.43	.	7.4127	0.27025	0.0:0.4576:0.5424:0.0	.	19;19	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	R	19	ENSP00000394828:G19R;ENSP00000301399:G19R;ENSP00000413476:G19R;ENSP00000389652:G19R;ENSP00000404509:G19R;ENSP00000413560:G19R;ENSP00000415307:G19R	ENSP00000301399:G19R	G	-	1	0	ZNF577	57075393	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.083000	0.14871	-0.055000	0.13244	0.467000	0.42956	GGG	ZNF577	-	superfamily_Krueppel-associated_box	ENSG00000161551		0.413	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	-	0.00	56	0	C	NM_032679		52383581	-1	tier1	-	no_errors	ENST00000301399	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.000	G
ZNF618	114991	genome.wustl.edu	37	9	116791119	116791119	+	Silent	SNP	G	G	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:116791119G>A	ENST00000374126.5	+	11	1050	c.951G>A	c.(949-951)acG>acA	p.T317T	ZNF618_ENST00000288466.7_Intron|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGACCCAGACGAACCAGTCGG	0.632																																																	0																																										SO:0001819	synonymous_variant	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.951G>A	9.37:g.116791119G>A			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T317	ENST00000374126.5	37	c.951		9																																																																																			ZNF618	-	NULL	ENSG00000157657		0.632	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	-	0.00	75	0	G	XM_054983		116791119	+1	tier1	-	no_errors	ENST00000374126	ensembl	human	known	74_37	silent	11.40	101	13	SNP	1.000	A
ZNF684	127396	genome.wustl.edu	37	1	41007150	41007150	+	Intron	SNP	C	C	A			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:41007150C>A	ENST00000372699.3	+	4	393				ZNF684_ENST00000372696.3_Intron|ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372697.3_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ccaccgcgcccagccTGGGTC	0.522																																																	0																																										SO:0001627	intron_variant	0				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.143-137C>A	1.37:g.41007150C>A			Q2NKY4	RNA	SNP	-	NULL	ENST00000372699.3	37	NULL	CCDS454.1	1																																																																																			ZNF684	-	-	ENSG00000117010		0.522	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	-	0.00	43	0	C	NM_152373		41007150	+1	tier1	-	no_errors	ENST00000472043	ensembl	human	known	74_37	rna	57.69	11	15	SNP	0.000	A
ZNF714	148206	genome.wustl.edu	37	19	21300897	21300897	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:21300897G>T	ENST00000596143.1	+	5	1752	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATTCATACTGGAGAGAAATCT	0.388																																																	0													55.0	61.0	59.0					19																	21300897		2202	4300	6502	SO:0001583	missense	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1427G>T	19.37:g.21300897G>T	ENSP00000472368:p.Gly476Val		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G476V	ENST00000596143.1	37	c.1427	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	10.25	1.297540	0.23650	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60818	0.2298	M	0.78285	2.405	0.48696	D	0.99969	B;B;B	0.23316	0.083;0.034;0.027	B;B;B	0.26770	0.073;0.024;0.024	T	0.61946	-0.6958	8	0.87932	D	0	.	8.9116	0.35557	0.0:0.0:1.0:0.0	.	477;476;477	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	V	476	.	ENSP00000291770:G476V	G	+	2	0	ZNF714	21092737	0.839000	0.29477	0.001000	0.08648	0.001000	0.01503	2.374000	0.44274	0.459000	0.27016	0.462000	0.41574	GGA	ZNF714	-	pfscan_Znf_C2H2	ENSG00000160352		0.388	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	-	0.00	59	0	G	NM_182515		21300897	+1	tier1	-	no_errors	ENST00000596143	ensembl	human	known	74_37	missense	52.08	23	25	SNP	1.000	T
ZNF771	51333	genome.wustl.edu	37	16	30429185	30429185	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:30429185C>T	ENST00000319296.5	+	3	828	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	ZNF771_ENST00000434417.1_Missense_Mutation_p.H151Y|ZNF771_ENST00000566625.1_Intron|SNORA42_ENST00000362917.1_RNA			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CGCATGCGCGCACTGCGGCCG	0.716																																																	0													3.0	3.0	3.0					16																	30429185		1717	3644	5361	SO:0001583	missense	0			BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"""Zinc fingers, C2H2-type"""	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.451C>T	16.37:g.30429185C>T	ENSP00000323945:p.His151Tyr		Q8TAQ7|Q9NYI6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H151Y	ENST00000319296.5	37	c.451	CCDS45460.1	16	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835575	0.71373	.	.	ENSG00000179965	ENST00000434417;ENST00000319296	T;T	0.35973	1.28;1.28	5.02	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.704363	0.12169	N	0.493222	T	0.26159	0.0638	N	0.16567	0.415	0.19300	N	0.999977	P	0.45768	0.866	B	0.41894	0.369	T	0.10683	-1.0619	10	0.87932	D	0	-10.2513	12.206	0.54353	0.0:0.517:0.483:0.0	.	151	Q7L3S4	ZN771_HUMAN	Y	151	ENSP00000416197:H151Y;ENSP00000323945:H151Y	ENSP00000323945:H151Y	H	+	1	0	ZNF771	30336686	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	-0.389000	0.07342	1.070000	0.40811	0.491000	0.48974	CAC	ZNF771	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179965		0.716	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF771	HGNC	protein_coding	OTTHUMT00000434612.2		0.00	17	0	C	NM_016643		30429185	+1			no_errors	ENST00000319296	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.379	T
ZNF793	390927	genome.wustl.edu	37	19	38023300	38023300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:38023300G>T	ENST00000587143.1	+	4	293	c.58G>T	c.(58-60)Gag>Tag	p.E20*	ZNF793_ENST00000589319.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000445217.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000588578.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000542455.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000587986.1_Nonsense_Mutation_p.E20*			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCACCCAAGAGGAGTGGCA	0.493																																					Melanoma(44;400 1431 1499 19093)												0													61.0	64.0	63.0					19																	38023300		2184	4297	6481	SO:0001587	stop_gained	0			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.58G>T	19.37:g.38023300G>T	ENSP00000468605:p.Glu20*		E9PGN4|Q7Z3Q9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E20*	ENST00000587143.1	37	c.58	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.855924	0.97889	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	.	.	.	3.53	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.9039	0.47069	0.0:0.1929:0.8071:0.0	.	.	.	.	X	20;20;20;19	.	ENSP00000318811:E19X	E	+	1	0	ZNF793	42715140	0.990000	0.36364	1.000000	0.80357	0.892000	0.51952	2.038000	0.41184	0.814000	0.34374	-0.223000	0.12442	GAG	ZNF793	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188227		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	-	0.00	84	0	G	NM_001013659		38023300	+1	tier1	-	no_errors	ENST00000445217	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T
ZRSR2	8233	genome.wustl.edu	37	X	15817995	15817995	+	Splice_Site	SNP	G	G	T			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:15817995G>T	ENST00000307771.7	+	3	146	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZRSR2_ENST00000380308.3_Splice_Site_p.G41V|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	41					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AATTCCCTAGGACTCTCACAG	0.333			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)			Rec	yes		X	Xp22.1	8233	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""		L	0													76.0	67.0	70.0					X																	15817995		2203	4300	6503	SO:0001630	splice_region_variant	0			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.122-1G>T	X.37:g.15817995G>T			Q14D69	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.G41V	ENST00000307771.7	37	c.122	CCDS14172.1	X	.	.	.	.	.	.	.	.	.	.	G	7.053	0.564890	0.13498	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	T;T	0.22336	1.96;5.02	4.96	1.38	0.22167	.	0.416010	0.28225	N	0.016140	T	0.27489	0.0675	M	0.72479	2.2	0.41352	D	0.987376	D	0.54601	0.967	P	0.49683	0.619	T	0.02424	-1.1161	9	.	.	.	.	6.7138	0.23292	0.416:0.0:0.584:0.0	.	41	Q15696	U2AFM_HUMAN	V	41	ENSP00000303015:G41V;ENSP00000369664:G41V	.	G	+	2	0	ZRSR2	15727916	1.000000	0.71417	0.664000	0.29753	0.422000	0.31414	1.334000	0.33827	-0.082000	0.12640	-0.191000	0.12829	GGA	ZRSR2	-	NULL	ENSG00000169249		0.333	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRSR2	HGNC	protein_coding	OTTHUMT00000055889.1		0.00	122	0	G	NM_005089	Missense_Mutation	15817995	+1			no_errors	ENST00000307771	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.701	T
