#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_CAF	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_deletion_substructures	i_domain	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_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
ATRX	546	genome.wustl.edu	37	X	76761288	76761288	+	3'UTR	SNP	A	A	C			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chrX:76761288A>C	ENST00000373344.5	-	0	10234				ATRX_ENST00000395603.3_3'UTR|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATATTGTCATACTTGAATGCT	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																0		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*2541T>G	X.37:g.76761288A>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	0	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			0	0		0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	43	104	0	0.00	0	0	A	NM_000489	0	0		76761288	-1	no_errors	ENST00000480283	ensembl	human	known	74_37	rna	10	22	73.68	73.81	28	62	SNP	1	C
NRK	203447	genome.wustl.edu	37	X	105156725	105156725	+	Missense_Mutation	SNP	T	T	C			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chrX:105156725T>C	ENST00000243300.9	+	14	2630	c.2327T>C	c.(2326-2328)aTt>aCt	p.I776T	NRK_ENST00000428173.2_Missense_Mutation_p.I777T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	776					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAGCCATACATTTCAAATCCT	0.338										HNSCC(51;0.14)																													0											0													31.0	27.0	28.0					X																	105156725		1802	4046	5848	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2327T>C	X.37:g.105156725T>C	ENSP00000434830:p.Ile776Thr		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I777T	ENST00000243300.9	37	c.2330		X	.	.	.	.	.	.	.	.	.	.	T	8.218	0.801939	0.16397	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79653	-1.28;-1.29	3.69	-0.119	0.13543	.	1.422290	0.04920	N	0.454840	T	0.64962	0.2646	N	0.24115	0.695	0.09310	N	1	B;B	0.32160	0.358;0.039	B;B	0.27500	0.08;0.012	T	0.55101	-0.8193	10	0.62326	D	0.03	.	2.1811	0.03875	0.2325:0.2772:0.0:0.4904	.	444;776	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	776;777	ENSP00000434830:I776T;ENSP00000438378:I777T	ENSP00000434830:I776T	I	+	2	0	NRK	105043381	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	-0.116000	0.11893	0.486000	0.48141	ATT	0	NULL		0.338	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	114	148	0	0.00	0	0	T	NM_198465	0	0		105156725	1	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	77	94	29.36	24.80	32	31	SNP	0	C
SERPINE2	5270	genome.wustl.edu	37	2	224866430	224866430	+	Missense_Mutation	SNP	C	C	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr2:224866430C>A	ENST00000258405.4	-	2	430	c.188G>T	c.(187-189)gGg>gTg	p.G63V	SERPINE2_ENST00000447280.2_Missense_Mutation_p.G75V|SERPINE2_ENST00000409304.1_Missense_Mutation_p.G63V|SERPINE2_ENST00000409840.3_Missense_Mutation_p.G63V	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	63					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGAAGCATCCCCAGGACCGA	0.567																																							0											0													92.0	83.0	86.0					2																	224866430		2203	4300	6503	SO:0001583	missense	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.188G>T	2.37:g.224866430C>A	ENSP00000258405:p.Gly63Val		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G63V	ENST00000258405.4	37	c.188	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832692	0.91036	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93559	0.6893	10	0.72032	D	0.01	.	19.7698	0.96359	0.0:1.0:0.0:0.0	.	75;63	B4DIF2;P07093	.;GDN_HUMAN	V	63;63;63;75;63;63	ENSP00000386412:G63V;ENSP00000258405:G63V;ENSP00000386969:G63V;ENSP00000415786:G75V;ENSP00000408452:G63V;ENSP00000399655:G63V	ENSP00000258405:G63V	G	-	2	0	SERPINE2	224574674	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	6.998000	0.76277	2.659000	0.90383	0.655000	0.94253	GGG	0	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	protein_coding	OTTHUMT00000256865.2	16	109	0	0.00	0	0	C	NM_006216	0	0		224866430	-1	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	8	69	38.46	31.68	5	32	SNP	1	A
WDR17	116966	genome.wustl.edu	37	4	177071055	177071055	+	Silent	SNP	A	A	C			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr4:177071055A>C	ENST00000280190.4	+	15	2223	c.2067A>C	c.(2065-2067)gtA>gtC	p.V689V	WDR17_ENST00000508596.1_Silent_p.V665V|WDR17_ENST00000393643.2_Silent_p.V665V|WDR17_ENST00000507824.2_Silent_p.V672V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	689										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACTCCTGTACAAATAAATA	0.408																																							0											0													105.0	109.0	108.0					4																	177071055		2203	4300	6503	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2067A>C	4.37:g.177071055A>C			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V689	ENST00000280190.4	37	c.2067	CCDS3825.1	4																																																																																			0	pfscan_WD40_repeat_dom		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	protein_coding	OTTHUMT00000362334.2	109	226	0	0.00	0	0	A		0	0		177071055	1	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	63	131	30.77	29.95	28	56	SNP	0.984	C
TENM3	55714	genome.wustl.edu	37	4	183696284	183696284	+	Missense_Mutation	SNP	A	A	G			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr4:183696284A>G	ENST00000511685.1	+	24	5405	c.5282A>G	c.(5281-5283)aAt>aGt	p.N1761S	TENM3_ENST00000406950.2_Missense_Mutation_p.N1761S|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1761					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGAAAGTCAATGTCTTTGGC	0.522																																							0											0													66.0	68.0	67.0					4																	183696284		2097	4216	6313	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5282A>G	4.37:g.183696284A>G	ENSP00000424226:p.Asn1761Ser		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.N1761S	ENST00000511685.1	37	c.5282	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	A	0.961	-0.703335	0.03255	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85556	-2.0;-2.0	4.81	4.81	0.61882	.	.	.	.	.	T	0.67915	0.2944	N	0.03324	-0.35	0.35056	D	0.761078	B	0.06786	0.001	B	0.04013	0.001	T	0.66988	-0.5784	9	0.12103	T	0.63	.	14.823	0.70087	1.0:0.0:0.0:0.0	.	1761	Q9P273	TEN3_HUMAN	S	1761	ENSP00000424226:N1761S;ENSP00000385276:N1761S	ENSP00000385276:N1761S	N	+	2	0	ODZ3	183933278	0.992000	0.36948	0.581000	0.28614	0.013000	0.08279	2.918000	0.48829	2.141000	0.66446	0.528000	0.53228	AAT	0	NULL		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	36	266	0	0.00	0	0	A		0	0		183696284	1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	33	136	17.5	37.90	7	83	SNP	0.672	G
DEFB112	245915	genome.wustl.edu	37	6	50011451	50011451	+	Missense_Mutation	SNP	C	C	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr6:50011451C>T	ENST00000322246.4	-	2	178	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	60					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					ATTTTTACATCGACCTCCAAT	0.423																																							0											0													215.0	170.0	186.0					6																	50011451		2203	4300	6503	SO:0001583	missense	0			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.179G>A	6.37:g.50011451C>T	ENSP00000319126:p.Arg60Gln		Q8NET0	Missense_Mutation	SNP	NULL	p.R60Q	ENST00000322246.4	37	c.179	CCDS34476.1	6	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.211948	0.01555	.	.	ENSG00000180872	ENST00000322246	T	0.12774	2.65	3.43	-0.956	0.10353	.	1.966570	0.03086	N	0.159152	T	0.01061	0.0035	N	0.01874	-0.695	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39901	-0.9591	10	0.13470	T	0.59	-0.0675	2.4	0.04399	0.2105:0.2495:0.0:0.54	.	60	Q30KQ8	DB112_HUMAN	Q	60	ENSP00000319126:R60Q	ENSP00000319126:R60Q	R	-	2	0	DEFB112	50119410	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.775000	0.01783	-0.082000	0.12640	-0.492000	0.04666	CGA	0	NULL		0.423	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB112	protein_coding	OTTHUMT00000359672.1	79	233	0	0.00	0	0	C	NM_001037498	0	0		50011451	-1	no_errors	ENST00000322246	ensembl	human	known	74_37	missense	28	136	47.17	31.66	25	63	SNP	0.002	T
IGF2R	3482	genome.wustl.edu	37	6	160485520	160485520	+	Missense_Mutation	SNP	G	G	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr6:160485520G>A	ENST00000356956.1	+	28	4122	c.3974G>A	c.(3973-3975)cGc>cAc	p.R1325H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1325					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R1325H(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTTTATCAGCGCTCCACAGCC	0.547																																							0											1	Substitution - Missense(1)	large_intestine(1)											91.0	97.0	95.0					6																	160485520		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3974G>A	6.37:g.160485520G>A	ENSP00000349437:p.Arg1325His		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.R1325H	ENST00000356956.1	37	c.3974	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.289211	0.95517	.	.	ENSG00000197081	ENST00000356956	T	0.05717	3.4	5.48	5.48	0.80851	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35895	-0.9770	10	0.72032	D	0.01	-10.5374	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1325	P11717	MPRI_HUMAN	H	1325	ENSP00000349437:R1325H	ENSP00000349437:R1325H	R	+	2	0	IGF2R	160405510	1.000000	0.71417	0.948000	0.38648	0.838000	0.47535	9.022000	0.93678	2.576000	0.86940	0.655000	0.94253	CGC	0	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	37	148	0	0.00	0	0	G	NM_000876	0	0		160485520	1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	18	108	30.77	23.94	8	34	SNP	0.888	A
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	339	122	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	277	79	32.69	38.46	135	50	SNP	1	A
ADAM18	8749	genome.wustl.edu	37	8	39587436	39587436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr8:39587436G>T	ENST00000265707.5	+	20	2242	c.2197G>T	c.(2197-2199)Gaa>Taa	p.E733*	ADAM18_ENST00000541111.1_Nonsense_Mutation_p.E147*|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.E709*|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	733					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGTTGTATCAGAAAGCGATGA	0.323																																							0											0													135.0	128.0	130.0					8																	39587436		2203	4300	6503	SO:0001587	stop_gained	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2197G>T	8.37:g.39587436G>T	ENSP00000265707:p.Glu733*		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	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	p.E733*	ENST00000265707.5	37	c.2197	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.330358	0.99547	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.38614	D	0.950963	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	11.0654	0.47972	0.0:0.0:1.0:0.0	.	.	.	.	X	733;709;147	.	ENSP00000265707:E733X	E	+	1	0	ADAM18	39706593	1.000000	0.71417	0.370000	0.25965	0.010000	0.07245	3.011000	0.49567	2.311000	0.77944	0.655000	0.94253	GAA	0	NULL		0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	protein_coding	OTTHUMT00000376916.1	84	265	0	0.00	0	0	G	NM_014237	0	0		39587436	1	no_errors	ENST00000265707	ensembl	human	known	74_37	nonsense	55	166	36.05	36.64	31	96	SNP	0.457	T
ZBTB10	65986	genome.wustl.edu	37	8	81411811	81411811	+	Missense_Mutation	SNP	G	G	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr8:81411811G>A	ENST00000430430.1	+	3	1834	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZBTB10_ENST00000426744.2_Missense_Mutation_p.R352Q|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R60Q|ZBTB10_ENST00000455036.3_Missense_Mutation_p.R352Q	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAACTTCTGCGACAACTAAAT	0.388																																							0											0													81.0	82.0	82.0					8																	81411811		1884	4121	6005	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1055G>A	8.37:g.81411811G>A	ENSP00000387462:p.Arg352Gln		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R352Q	ENST00000430430.1	37	c.1055	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	4.749	0.139268	0.09083	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.34	4.35	0.52113	BTB/POZ fold (2);	0.329365	0.27700	N	0.018218	T	0.34803	0.0910	N	0.02916	-0.46	0.40234	D	0.977882	B;B;B;B	0.21147	0.002;0.019;0.052;0.048	B;B;B;B	0.12156	0.001;0.002;0.005;0.007	T	0.46219	-0.9207	10	0.02654	T	1	.	3.4452	0.07478	0.3699:0.0:0.6301:0.0	.	208;352;352;60	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	Q	60;352;352;352;180	ENSP00000368384:R60Q;ENSP00000387462:R352Q;ENSP00000412036:R352Q;ENSP00000416134:R352Q	ENSP00000368384:R60Q	R	+	2	0	ZBTB10	81574366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.191000	0.65110	2.507000	0.84556	0.650000	0.86243	CGA	0	superfamily_BTB/POZ_fold		0.388	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	protein_coding	OTTHUMT00000338055.2	111	196	0	0.00	0	0	G	NM_023929	0	0		81411811	1	no_errors	ENST00000430430	ensembl	human	known	74_37	missense	78	156	30.97	32.33	35	75	SNP	1	A
YME1L1	10730	genome.wustl.edu	37	10	27434500	27434500	+	Missense_Mutation	SNP	T	T	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr10:27434500T>A	ENST00000326799.3	-	4	507	c.359A>T	c.(358-360)gAc>gTc	p.D120V	YME1L1_ENST00000376016.3_Missense_Mutation_p.D63V|YME1L1_ENST00000375972.3_Missense_Mutation_p.D63V|YME1L1_ENST00000477432.1_3'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	120					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TAATCCAAGGTCCCTTAAGTT	0.338																																							0											0													89.0	95.0	93.0					10																	27434500		2203	4300	6503	SO:0001583	missense	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.359A>T	10.37:g.27434500T>A	ENSP00000318480:p.Asp120Val		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.D120V	ENST00000326799.3	37	c.359	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420303	0.83559	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.95342	-3.36;-3.37;-3.68	5.69	5.69	0.88448	Peptidase M41, FtsH (1);	0.137242	0.64402	D	0.000004	D	0.93733	0.7997	L	0.34521	1.04	0.58432	D	0.999999	B;P;P	0.49307	0.449;0.796;0.922	B;P;P	0.51999	0.283;0.687;0.682	D	0.94593	0.7789	10	0.87932	D	0	-15.1662	15.6765	0.77332	0.0:0.0:0.0:1.0	.	63;63;120	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	V	63;120;120;63;63;55	ENSP00000365184:D63V;ENSP00000318480:D120V;ENSP00000365139:D63V	ENSP00000318480:D120V	D	-	2	0	YME1L1	27474506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.751000	0.68720	2.191000	0.70037	0.529000	0.55759	GAC	0	NULL		0.338	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	protein_coding	OTTHUMT00000047306.1	68	280	0	0.00	0	0	T	NM_139312	0	0		27434500	-1	no_errors	ENST00000326799	ensembl	human	known	74_37	missense	56	166	20.83	34.65	15	88	SNP	1	A
PAOX	196743	genome.wustl.edu	37	10	135193684	135193684	+	Silent	SNP	C	C	T	rs527822098		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr10:135193684C>T	ENST00000278060.5	+	2	446	c.363C>T	c.(361-363)agC>agT	p.S121S	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Silent_p.S121S|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.S121S	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	259					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CCGGGGCCAGCGTGAGCCTCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		15721	0.0		0.0	False		,,,				2504	0.001						0											0													30.0	31.0	31.0					10																	135193684		2196	4297	6493	SO:0001819	synonymous_variant	0			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.363C>T	10.37:g.135193684C>T			D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	pfam_Amino_oxidase	p.S121	ENST00000278060.5	37	c.363	CCDS7683.1	10																																																																																			0	pfam_Amino_oxidase		0.687	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	protein_coding	OTTHUMT00000051146.2	77	48	0	0.00	0	0	C	NM_152911	rs527822098	C->T		135193684	1	no_errors	ENST00000278060	ensembl	human	known	74_37	silent	24	35	40	50.70	16	36	SNP	0.001	T
HRAS	3265	genome.wustl.edu	37	11	533552	533552	+	Missense_Mutation	SNP	C	C	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:533552C>A	ENST00000451590.1	-	4	538	c.351G>T	c.(349-351)aaG>aaT	p.K117N	HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000417302.1_Missense_Mutation_p.K117N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	3	Substitution - Missense(3)	urinary_tract(2)|thyroid(1)											199.0	177.0	184.0					11																	533552		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.351G>T	11.37:g.533552C>A	ENSP00000407586:p.Lys117Asn		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K117N	ENST00000451590.1	37	c.351	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494433	0.64186	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.08	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99951	5.03	0.80722	D	1	D;D	0.57257	0.979;0.966	P;P	0.57204	0.815;0.759	D	0.92778	0.6238	10	0.87932	D	0	.	6.1696	0.20410	0.0:0.5874:0.0:0.4125	.	117;117	P01112-2;P01112	.;RASH_HUMAN	N	117	ENSP00000380722:K117N;ENSP00000380723:K117N;ENSP00000407586:K117N;ENSP00000388246:K117N;ENSP00000309845:K117N	ENSP00000309845:K117N	K	-	3	2	HRAS	523552	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.073000	0.14640	0.831000	0.34780	0.561000	0.74099	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	49	175	0	0.00	0	0	C	NM_176795	0	0		533552	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	21	92	32.26	38.26	10	57	SNP	0.999	A
MADD	8567	genome.wustl.edu	37	11	47311710	47311710	+	Missense_Mutation	SNP	G	G	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:47311710G>T	ENST00000311027.5	+	19	3179	c.3014G>T	c.(3013-3015)cGg>cTg	p.R1005L	MADD_ENST00000402799.1_Missense_Mutation_p.R942L|MADD_ENST00000406482.1_Missense_Mutation_p.R942L|MADD_ENST00000342922.4_Missense_Mutation_p.R985L|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000402192.2_Missense_Mutation_p.R985L|MADD_ENST00000407859.3_Missense_Mutation_p.R962L|MADD_ENST00000349238.3_Missense_Mutation_p.R1005L|MADD_ENST00000395336.3_Missense_Mutation_p.R1005L|MADD_ENST00000395344.3_Missense_Mutation_p.R942L	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)		GAGATCAGTCGGAAGGTGTAC	0.542																																							0											0													124.0	107.0	112.0					11																	47311710		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.3014G>T	11.37:g.47311710G>T	ENSP00000310933:p.Arg1005Leu			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.R1005L	ENST00000311027.5	37	c.3014	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.192388	0.94960	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.09445	3.18;2.99;2.99;3.22;3.25;3.05;2.98;3.24;3.18	5.56	5.56	0.83823	.	0.056341	0.64402	D	0.000002	T	0.30885	0.0779	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;P;D;P;D	0.64830	0.98;0.983;0.965;0.99;0.994;0.98;0.937;0.965;0.942;0.968	P;P;P;P;P;P;P;P;P;P	0.62298	0.796;0.796;0.819;0.9;0.9;0.774;0.819;0.774;0.664;0.774	T	0.00797	-1.1562	10	0.87932	D	0	-11.7551	19.5322	0.95234	0.0:0.0:1.0:0.0	.	942;942;1005;942;942;942;1005;962;1005;985	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	985;942;942;942;1005;1005;962;942;1005;985	ENSP00000343902:R985L;ENSP00000385585:R942L;ENSP00000384435:R942L;ENSP00000304505:R1005L;ENSP00000310933:R1005L;ENSP00000384204:R962L;ENSP00000378753:R942L;ENSP00000378745:R1005L;ENSP00000384287:R985L	ENSP00000310933:R1005L	R	+	2	0	MADD	47268286	1.000000	0.71417	0.120000	0.21714	0.953000	0.61014	9.466000	0.97665	2.620000	0.88729	0.448000	0.29417	CGG	0	NULL		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	protein_coding	OTTHUMT00000317746.1	50	200	0	0.00	0	0	G		0	0		47311710	1	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	29	185	9.38	4.62	3	9	SNP	1	T
PYGM	5837	genome.wustl.edu	37	11	64522263	64522263	+	Missense_Mutation	SNP	C	C	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:64522263C>T	ENST00000164139.3	-	8	1299	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	PYGM_ENST00000377432.3_Missense_Mutation_p.V213M|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	301					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGCAGCCACCACGAAATAC	0.592																																							0											0													88.0	69.0	75.0					11																	64522263		2201	4297	6498	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.901G>A	11.37:g.64522263C>T	ENSP00000164139:p.Val301Met		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.V301M	ENST00000164139.3	37	c.901	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.300303	0.95574	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94966	-3.57;-3.57	4.89	4.89	0.63831	.	0.121205	0.37219	N	0.002187	D	0.98049	0.9357	H	0.97611	4.04	0.80722	D	1	D;D	0.54601	0.957;0.967	P;P	0.61397	0.888;0.831	D	0.99194	1.0871	10	0.87932	D	0	-32.1317	15.5838	0.76465	0.0:1.0:0.0:0.0	.	213;301	A6NDY6;P11217	.;PYGM_HUMAN	M	213;301;282	ENSP00000366650:V213M;ENSP00000164139:V301M	ENSP00000164139:V301M	V	-	1	0	PYGM	64278839	1.000000	0.71417	0.979000	0.43373	0.873000	0.50193	7.651000	0.83577	2.551000	0.86045	0.561000	0.74099	GTG	0	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.592	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	70	91	0	0.00	0	0	C	NM_005609	0	0		64522263	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	23	50	39.47	34.21	15	26	SNP	1	T
FAM186A	121006	genome.wustl.edu	37	12	50746771	50746771	+	Missense_Mutation	SNP	T	T	G			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr12:50746771T>G	ENST00000327337.5	-	4	3843	c.3844A>C	c.(3844-3846)Aag>Cag	p.K1282Q	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Missense_Mutation_p.K1282Q	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1282																	TGAGCCTGCTTAGGGGTGAGA	0.612																																					NSCLC(138;1796 1887 12511 19463 37884)		0											0													20.0	17.0	18.0					12																	50746771		692	1591	2283	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3844A>C	12.37:g.50746771T>G	ENSP00000329995:p.Lys1282Gln			Missense_Mutation	SNP	NULL	p.K1282Q	ENST00000327337.5	37	c.3844	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358604	0.05138	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04119	3.7;3.7	5.03	0.653	0.17828	.	.	.	.	.	T	0.01695	0.0054	N	0.01874	-0.695	0.53005	D	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50074	-0.8870	9	0.09843	T	0.71	.	8.5509	0.33451	0.0:0.3559:0.456:0.1881	.	1282;1282	F5GYN0;A6NE01	.;F186A_HUMAN	Q	1282	ENSP00000441337:K1282Q;ENSP00000329995:K1282Q	ENSP00000329995:K1282Q	K	-	1	0	FAM186A	49033038	0.000000	0.05858	0.016000	0.15963	0.120000	0.20174	-4.240000	0.00268	-0.006000	0.14370	-0.323000	0.08544	AAG	0	NULL		0.612	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	protein_coding	OTTHUMT00000396838.1	118	50	0.84	1.96	1	1	T	XM_001718353	0	0		50746771	-1	no_errors	ENST00000327337	ensembl	human	known	74_37	missense	115	61	8	6.15	10	4	SNP	0.759	G
CTSG	1511	genome.wustl.edu	37	14	25042983	25042983	+	Missense_Mutation	SNP	C	C	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr14:25042983C>T	ENST00000216336.2	-	5	664	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCGTGGGCCACATTGTTACAC	0.582																																							0											0													93.0	101.0	98.0					14																	25042983		2203	4300	6503	SO:0001583	missense	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.628G>A	14.37:g.25042983C>T	ENSP00000216336:p.Val210Met		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V210M	ENST00000216336.2	37	c.628	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317543	0.23908	.	.	ENSG00000100448	ENST00000216336	D	0.93763	-3.28	4.63	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.236875	0.21631	N	0.071498	D	0.93635	0.7967	M	0.76002	2.32	0.25721	N	0.985375	B	0.20368	0.044	B	0.39503	0.301	D	0.88188	0.2875	10	0.59425	D	0.04	.	9.9505	0.41636	0.0:0.7932:0.2068:0.0	.	210	P08311	CATG_HUMAN	M	210	ENSP00000216336:V210M	ENSP00000216336:V210M	V	-	1	0	CTSG	24112823	0.000000	0.05858	0.878000	0.34440	0.013000	0.08279	-0.741000	0.04855	2.504000	0.84457	0.549000	0.68633	GTG	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.582	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	45	160	0	0.00	0	0	C	NM_001911	0	0		25042983	-1	no_errors	ENST00000216336	ensembl	human	known	74_37	missense	24	135	31.43	26.63	11	49	SNP	0.534	T
CHRNA7	1139	genome.wustl.edu	37	15	32460238	32460238	+	Missense_Mutation	SNP	G	G	A	rs199698778		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr15:32460238G>A	ENST00000306901.3	+	10	1185	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392H|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182H	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	AAGCAGCGGCGCTGCAGCCTG	0.687																																					Esophageal Squamous(193;529 2900 40232 43193)		0											0								G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	37.0	44.0	42.0		1088,1175	3.8	1.0	15		42	2,8590	1.2+/-3.3	0,2,4294	no	missense,missense	CHRNA7	NM_000746.4,NM_001190455.1	29,29	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	363/503,392/532	32460238	2,12986	2198	4296	6494	SO:0001583	missense	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1088G>A	15.37:g.32460238G>A	ENSP00000303727:p.Arg363His		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R392H	ENST00000306901.3	37	c.1175	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	g	14.40	2.523165	0.44866	0.0	2.33E-4	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	D;D;D	0.84146	-1.81;-1.81;-1.81	3.84	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.373152	0.32015	N	0.006704	T	0.78432	0.4282	L	0.35644	1.08	0.51233	D	0.999917	B;B	0.17268	0.021;0.011	B;B	0.18263	0.021;0.021	T	0.74197	-0.3743	10	0.33141	T	0.24	.	14.0826	0.64934	0.0:0.0:1.0:0.0	.	392;363	B4DFS0;P36544	.;ACHA7_HUMAN	H	273;392;363;182	ENSP00000407546:R392H;ENSP00000303727:R363H;ENSP00000405989:R182H	ENSP00000303727:R363H	R	+	2	0	CHRNA7	30247530	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.940000	0.56599	2.434000	0.82447	0.650000	0.86243	CGC	0	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.687	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	protein_coding	OTTHUMT00000251410.2	106	71	0	0.00	0	0	G		rs199698778	G->A		32460238	1	no_errors	ENST00000454250	ensembl	human	known	74_37	missense	92	42	12.26	23.64	13	13	SNP	1	A
MIB1	57534	genome.wustl.edu	37	18	19418334	19418334	+	Missense_Mutation	SNP	G	G	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr18:19418334G>A	ENST00000261537.6	+	13	2102	c.1838G>A	c.(1837-1839)cGt>cAt	p.R613H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	613					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTGCAATGCGTGTTTTACTA	0.318																																							0											0													111.0	105.0	107.0					18																	19418334		2203	4300	6503	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1838G>A	18.37:g.19418334G>A	ENSP00000261537:p.Arg613His		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.R613H	ENST00000261537.6	37	c.1838	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.463915	0.96257	.	.	ENSG00000101752	ENST00000261537	T	0.66460	-0.21	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	L	0.35542	1.07	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	T	0.77247	-0.2658	10	0.87932	D	0	-20.6702	19.9918	0.97368	0.0:0.0:1.0:0.0	.	613	Q86YT6	MIB1_HUMAN	H	613	ENSP00000261537:R613H	ENSP00000261537:R613H	R	+	2	0	MIB1	17672332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.334000	0.96470	2.728000	0.93425	0.585000	0.79938	CGT	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.318	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	protein_coding	OTTHUMT00000254675.1	90	221	0	0.89	0	2	G	NM_020774	0	0		19418334	1	no_errors	ENST00000261537	ensembl	human	known	74_37	missense	84	147	27.59	31.63	32	68	SNP	1	A
ABCA7	10347	genome.wustl.edu	37	19	1043091	1043091	+	Nonsense_Mutation	SNP	C	C	T	rs148324257		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:1043091C>T	ENST00000263094.6	+	8	862	c.631C>T	c.(631-633)Cga>Tga	p.R211*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R73*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R211*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	211					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGACCCCGAGGGACCAG	0.652																																							0											0													32.0	37.0	35.0					19																	1043091		2201	4300	6501	SO:0001587	stop_gained	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.631C>T	19.37:g.1043091C>T	ENSP00000263094:p.Arg211*		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R211*	ENST00000263094.6	37	c.631	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364470	0.61513	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.1	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	7.8886	0.29665	0.0:0.8806:0.0:0.1194	.	.	.	.	X	211	.	ENSP00000263094:R211X	R	+	1	2	ABCA7	994091	0.000000	0.05858	0.029000	0.17559	0.041000	0.13682	0.492000	0.22435	0.859000	0.35456	0.313000	0.20887	CGA	0	NULL		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	25	28	0	0.00	0	0	C	NM_019112	0	0		1043091	1	no_errors	ENST00000263094	ensembl	human	known	74_37	nonsense	16	7	20	61.11	4	11	SNP	0.016	T
PRR12	57479	genome.wustl.edu	37	19	50098913	50098913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:50098913C>T	ENST00000418929.2	+	4	1333	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCAGGGGGCCAGGCTTATTC	0.687																																							0											0													11.0	13.0	13.0					19																	50098913		1834	4028	5862	SO:0001587	stop_gained	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1321C>T	19.37:g.50098913C>T	ENSP00000394510:p.Gln441*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.Q441*	ENST00000418929.2	37	c.1321	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.008635	0.97195	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.7712	0.69679	0.0:1.0:0.0:0.0	.	.	.	.	X	441	.	ENSP00000394510:Q441X	Q	+	1	0	PRR12	54790725	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.363000	0.59473	2.085000	0.62840	0.455000	0.32223	CAG	0	NULL		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	protein_coding	OTTHUMT00000465915.1	12	88	0	0.00	0	0	C	NM_020719	0	0		50098913	1	no_errors	ENST00000418929	ensembl	human	novel	74_37	nonsense	5	59	37.5	31.40	3	27	SNP	1	T
FOS	2353	genome.wustl.edu	37	14	75746886	75746886	+	Intron	DEL	C	C	-			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr14:75746886delC	ENST00000303562.4	+	2	602				FOS_ENST00000554617.1_Frame_Shift_Del_p.P150fs|FOS_ENST00000535987.1_Intron|FOS_ENST00000555242.1_Intron|FOS_ENST00000555686.1_Intron|FOS_ENST00000555347.1_5'Flank	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog						aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TGGGAAGCAGCCCCGGAGATG	0.617																																							0											0																																										SO:0001627	intron_variant	0			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.393+55C>-	14.37:g.75746886delC			A8K4E2|B4DQ65|P18849	Frame_Shift_Del	DEL	NULL	p.R151fs	ENST00000303562.4	37	c.448	CCDS9841.1	14																																																																																			0	NULL		0.617	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOS	protein_coding	OTTHUMT00000415044.1	15	119	0	0.00	0	0	C	NM_005252	0	0		75746886	1	no_errors	ENST00000554617	ensembl	human	putative	74_37	frame_shift_del	8	76	52.94	30.28	9	33	DEL	0	0
MT-ND2	4536	genome.wustl.edu	37	M	1945	1945	+	5'Flank	SNP	A	A	C			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chrM:1945A>C	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CTAAAAGAGCACACCCGTCTA	0.433																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1945A>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		24	3	0	0.00	0	0	A	YP_003024027	0	0		1945	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	6	4	40	0.00	4	0	SNP	NULL	C
RP11-368M16.3	0	genome.wustl.edu	37	7	57696839	57696839	+	RNA	SNP	C	C	T	rs112957140		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr7:57696839C>T	ENST00000605139.1	-	0	493																											TTCCAGGAACCCCTCCATCCA	0.537																																							0											0																																												0																															7.37:g.57696839C>T				RNA	SNP	0	NULL	ENST00000605139.1	37	NULL		7																																																																																			0	0		0.537	RP11-368M16.3-002	KNOWN	basic	processed_transcript	LOC101928654	pseudogene	OTTHUMT00000468775.1	15	10	0	0.00	0	0	C		rs112957140	C->T		57696839	-1	no_errors	ENST00000436522	ensembl	human	known	74_37	rna	1	2	66.67	0.00	2	0	SNP	0.026	T
DNM1P47	100216544	genome.wustl.edu	37	15	102300323	102300323	+	RNA	SNP	C	C	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr15:102300323C>A	ENST00000561463.1	+	0	8369									DNM1 pseudogene 47																		CCTGCACTCGCGTGGGAACGA	0.602																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102300323C>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	0.394	-0.921937	0.02396	.	.	ENSG00000225587	ENST00000448059	.	.	.	1.4	0.195	0.15151	.	.	.	.	.	T	0.37404	0.1002	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47341	-0.9125	4	0.87932	D	0	.	3.2404	0.06778	0.0:0.2558:0.0:0.7442	.	.	.	.	S	81	.	ENSP00000413267:R81S	R	+	1	0	AC107977.3	100117846	1.000000	0.71417	0.993000	0.49108	0.084000	0.17831	1.319000	0.33655	0.061000	0.16311	0.089000	0.15464	CGT	0	0		0.602	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	46	5	0	0.00	0	0	C	NG_009149	0	0		102300323	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	45	2	16.67	0.00	9	0	SNP	0.996	A
ZNF714	148206	genome.wustl.edu	37	19	21301036	21301036	+	Silent	SNP	C	C	A			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:21301036C>A	ENST00000596143.1	+	5	1891	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I522I(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						gtgagcagatcgcgaggtcag	0.468																																							0											1	Substitution - coding silent(1)	large_intestine(1)											39.0	41.0	40.0					19																	21301036		2191	4296	6487	SO:0001819	synonymous_variant	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.1566C>A	19.37:g.21301036C>A			Q49AI1|Q86W65|Q8ND40	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I522	ENST00000596143.1	37	c.1566	CCDS54239.1	19																																																																																			0	NULL		0.468	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	protein_coding	OTTHUMT00000463930.1	12	0	0	0.00	0	0	C	NM_182515	0	0		21301036	1	no_errors	ENST00000596143	ensembl	human	known	74_37	silent	20	3	9.09	0.00	2	0	SNP	0.578	A
DHX33	56919	genome.wustl.edu	37	17	5372037	5372039	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr17:5372037_5372039delCCT	ENST00000225296.3	-	1	341_343	c.141_143delAGG	c.(139-144)ggaggc>ggc	p.47_48GG>G	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_In_Frame_Del_p.47_48GG>G	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	47					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCCTCCGGCCTCCTCCTCCTC	0.724																																							0											0									,	85,4071		5,75,1998					,	2.9	1.0			12	159,7947		11,137,3905	no	coding,utr-5	DHX33	NM_020162.3,NM_001199699.1	,	16,212,5903	A1A1,A1R,RR		1.9615,2.0452,1.9899	,	,		244,12018				SO:0001651	inframe_deletion	0			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.141_143delAGG	17.37:g.5372046_5372048delCCT	ENSP00000225296:p.Gly48del		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	In_Frame_Del	DEL	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G48in_frame_del	ENST00000225296.3	37	c.143_141	CCDS11072.1	17																																																																																			0	NULL		0.724	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	protein_coding	OTTHUMT00000219826.2	31	5	0	0.00	0	0	CCT	NM_020162	0	0		5372039	-1	no_errors	ENST00000225296	ensembl	human	known	74_37	in_frame_del	12	7	14.29	0.00	2	0	DEL	1.000:1.000:1.000	0
