#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADCY6	112	genome.wustl.edu	37	12	49167398	49167398	+	Silent	SNP	C	C	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr12:49167398C>T	ENST00000307885.4	-	15	3169	c.2475G>A	c.(2473-2475)ttG>ttA	p.L825L	ADCY6_ENST00000550422.1_Silent_p.L772L|ADCY6_ENST00000357869.3_Silent_p.L772L|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	825					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGAGCTGGCCAAGAGACTCA	0.597																																						dbGAP											0													91.0	82.0	85.0					12																	49167398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2475G>A	12.37:g.49167398C>T			Q9NR75|Q9UDB0	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L825	ENST00000307885.4	37	c.2475	CCDS8767.1	12																																																																																			ADCY6	-	NULL	ENSG00000174233		0.597	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	46	0.00	0	C	NM_020983		49167398	49167398	-1	no_errors	ENST00000307885	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	1.000	T
AEN	64782	genome.wustl.edu	37	15	89169536	89169536	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr15:89169536delA	ENST00000332810.3	+	2	247	c.96delA	c.(94-96)agafs	p.R33fs	AEN_ENST00000379231.3_Frame_Shift_Del_p.R33fs	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	33					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGCACAAGAGAAGGAGCCGAC	0.632																																						dbGAP											0													32.0	28.0	29.0					15																	89169536		2199	4299	6498	-	-	-	SO:0001589	frameshift_variant	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.96delA	15.37:g.89169536delA	ENSP00000331944:p.Arg33fs		C9J571|Q9BSA5|Q9H9X7	Frame_Shift_Del	DEL	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R33fs	ENST00000332810.3	37	c.96	CCDS10344.1	15																																																																																			AEN	-	NULL	ENSG00000181026		0.632	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1	18	0.00	0	A	NM_022767		89169536	89169536	+1	no_errors	ENST00000379231	ensembl	human	known	69_37n	frame_shift_del	5	28.57	2	DEL	1.000	-
AKAP6	9472	genome.wustl.edu	37	14	33014845	33014845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr14:33014845delC	ENST00000280979.4	+	4	1156	c.986delC	c.(985-987)tcafs	p.S329fs	AKAP6_ENST00000557272.1_Frame_Shift_Del_p.S329fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.S329fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	329					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCATCATCTTCAGGAGAAGCT	0.493																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													78.0	69.0	72.0					14																	33014845		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.986delC	14.37:g.33014845delC	ENSP00000280979:p.Ser329fs		A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	smart_Spectrin/alpha-actinin	p.S329fs	ENST00000280979.4	37	c.986	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	41	0.00	0	C	NM_004274		33014845	33014845	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.001	-
ARHGAP5	394	genome.wustl.edu	37	14	32562919	32562919	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr14:32562919delA	ENST00000345122.3	+	2	3359	c.3044delA	c.(3043-3045)gaafs	p.E1015fs	ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.E1015fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.E1015fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.E1015fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1015					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGATTTGGAAGGAAATGAG	0.423																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													112.0	109.0	110.0					14																	32562919		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3044delA	14.37:g.32562919delA	ENSP00000371897:p.Glu1015fs		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.G1016fs	ENST00000345122.3	37	c.3044	CCDS32062.1	14																																																																																			ARHGAP5	-	NULL	ENSG00000100852		0.423	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	56	0.00	0	A	NM_001030055		32562919	32562919	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
ASPHD2	57168	genome.wustl.edu	37	22	26829760	26829761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr22:26829760_26829761insT	ENST00000215906.5	+	2	617_618	c.179_180insT	c.(178-183)gctgtcfs	p.V61fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	61					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GACACCACCGCTGTCATCACTG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.180dupT	22.37:g.26829761_26829761dupT	ENSP00000215906:p.Val61fs		B2RCH3|Q7L0W3|Q9NSN3	Frame_Shift_Ins	INS	pfam_Asp_Arg_b-Hydrxlase	p.V61fs	ENST00000215906.5	37	c.179_180	CCDS13834.2	22																																																																																			ASPHD2	-	NULL	ENSG00000128203		0.649	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	43	0.00	0	-	NM_020437		26829760	26829761	+1	no_errors	ENST00000215906	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.889:0.000	T
RSRP1	57035	genome.wustl.edu	37	1	25572981	25572981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr1:25572981delG	ENST00000243189.7	-	2	750	c.474delC	c.(472-474)tccfs	p.S158fs	C1orf63_ENST00000431849.2_Frame_Shift_Del_p.S158fs|C1orf63_ENST00000417642.2_Frame_Shift_Del_p.S151fs|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		158	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTCGTCCTGGATCTGTCCC	0.562																																						dbGAP											0													146.0	143.0	144.0					1																	25572981		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000243189.7:c.474delC	1.37:g.25572981delG	ENSP00000243189:p.Ser158fs		A8K917|Q49AA4|Q5TH71|Q9GZP6	Frame_Shift_Del	DEL	NULL	p.R152fs	ENST00000243189.7	37	c.453	CCDS260.1	1																																																																																			C1orf63	-	NULL	ENSG00000117616		0.562	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2	42	0.00	0	G			25572981	25572981	-1	no_errors	ENST00000417642	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.005	-
CAMK1D	57118	genome.wustl.edu	37	10	12391854	12391854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr10:12391854delA	ENST00000378847.3	+	1	374	c.37delA	c.(37-39)aaafs	p.K14fs	CAMK1D_ENST00000378845.1_Frame_Shift_Del_p.K14fs|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	14					inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTCCTCCTGGAAAAAGCAAGC	0.701																																						dbGAP											0													30.0	31.0	30.0					10																	12391854		2201	4300	6501	-	-	-	SO:0001589	frameshift_variant	0			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.37delA	10.37:g.12391854delA	ENSP00000368124:p.Lys14fs		B0YIY0|Q9HD31	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_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_cat_dom	p.K14fs	ENST00000378847.3	37	c.37	CCDS7091.1	10																																																																																			CAMK1D	-	superfamily_Kinase-like_dom	ENSG00000183049		0.701	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	9	0.00	0	A	NM_020397		12391854	12391854	+1	no_errors	ENST00000378847	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	1.000	-
ENTPD5	957	genome.wustl.edu	37	14	74442670	74442670	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr14:74442670A>G	ENST00000334696.6	-	10	1010	c.691T>C	c.(691-693)Ttt>Ctt	p.F231L	ENTPD5_ENST00000557325.1_Missense_Mutation_p.F231L	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	231					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTGCTGTTAAACATCTCAAAG	0.393																																						dbGAP											0													99.0	96.0	97.0					14																	74442670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.691T>C	14.37:g.74442670A>G	ENSP00000335246:p.Phe231Leu		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F231L	ENST00000334696.6	37	c.691	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457085	0.84317	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.10099	2.91;2.91	5.53	5.53	0.82687	.	0.051080	0.85682	D	0.000000	T	0.15609	0.0376	L	0.53561	1.675	0.80722	D	1	B;B	0.32717	0.302;0.381	B;B	0.40602	0.256;0.334	T	0.06267	-1.0836	10	0.11794	T	0.64	-17.6502	15.827	0.78718	1.0:0.0:0.0:0.0	.	231;231	O75356;G3V4I0	ENTP5_HUMAN;.	L	231	ENSP00000451810:F231L;ENSP00000335246:F231L	ENSP00000335246:F231L	F	-	1	0	ENTPD5	73512423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.117000	0.89575	2.324000	0.78689	0.533000	0.62120	TTT	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.393	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	56	0.00	0	A	NM_001249		74442670	74442670	-1	no_errors	ENST00000334696	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	G
EWSR1	2130	genome.wustl.edu	37	22	29694768	29694768	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr22:29694768G>A	ENST00000397938.2	+	14	1782	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	EWSR1_ENST00000331029.7_Missense_Mutation_p.G450E|EWSR1_ENST00000332035.6_Missense_Mutation_p.G432E|EWSR1_ENST00000332050.6_Missense_Mutation_p.G415E|EWSR1_ENST00000406548.1_Missense_Mutation_p.G487E|EWSR1_ENST00000414183.2_Missense_Mutation_p.G493E	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	488	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTCGCATGGGAGGCCGTGGA	0.587			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													75.0	84.0	81.0					22																	29694768		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1463G>A	22.37:g.29694768G>A	ENSP00000381031:p.Gly488Glu		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G493E	ENST00000397938.2	37	c.1478	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309241	0.81247	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;D;D;D;D;D	0.97114	-4.23;-3.74;-3.85;-4.25;-3.88;-3.75	5.52	5.52	0.82312	.	0.126753	0.50627	U	0.000104	D	0.97300	0.9117	L	0.43152	1.355	0.53005	D	0.999962	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.997;0.997	D;P;P;P;P	0.64042	0.921;0.829;0.829;0.829;0.829	D	0.96840	0.9617	10	0.36615	T	0.2	.	18.213	0.89877	0.0:0.0:1.0:0.0	.	432;487;432;493;488	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	E	415;488;487;450;493;432	ENSP00000330896:G415E;ENSP00000381031:G488E;ENSP00000385726:G487E;ENSP00000330516:G450E;ENSP00000400142:G493E;ENSP00000331699:G432E	ENSP00000330516:G450E	G	+	2	0	EWSR1	28024768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.719000	0.74718	2.598000	0.87819	0.462000	0.41574	GGA	EWSR1	-	NULL	ENSG00000182944		0.587	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	95	0.00	0	G	NM_005243		29694768	29694768	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	A
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	60	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	25	35.90	14	INS	0.033:0.036	GCA
HCFC1	3054	genome.wustl.edu	37	X	153236144	153236145	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chrX:153236144_153236145insA	ENST00000310441.7	-	1	1113_1114	c.147_148insT	c.(145-150)ggcggcfs	p.G50fs	HCFC1-AS1_ENST00000438219.1_RNA|TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000369984.4_Frame_Shift_Ins_p.G50fs|HCFC1_ENST00000354233.3_Frame_Shift_Ins_p.G50fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	50					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTGCCGCCGCCAAACACCA	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.147_148insT	X.37:g.153236144_153236145insA	ENSP00000309555:p.Gly50fs		Q6P4G5	Frame_Shift_Ins	INS	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G49fs	ENST00000310441.7	37	c.148_147	CCDS44020.1	X																																																																																			HCFC1	-	pfam_Kelch_1	ENSG00000172534		0.663	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	63	0.00	0	-	NM_005334		153236144	153236145	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:0.968	A
KRTAP5-10	387273	genome.wustl.edu	37	11	71276948	71276948	+	Silent	SNP	T	T	C	rs78111049	byFrequency	TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr11:71276948T>C	ENST00000398531.1	+	1	340	c.315T>C	c.(313-315)ggT>ggC	p.G105G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	105	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGTTCTTGTGGGG	0.677																																						dbGAP											0													39.0	59.0	52.0					11																	71276948		2163	4270	6433	-	-	-	SO:0001819	synonymous_variant	0			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.315T>C	11.37:g.71276948T>C			B9EHA4	Silent	SNP	NULL	p.G105	ENST00000398531.1	37	c.315	CCDS41684.1	11																																																																																			KRTAP5-10	-	NULL	ENSG00000204572		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP5-10	HGNC	protein_coding	OTTHUMT00000127968.2	44	0.00	0	T			71276948	71276948	+1	no_errors	ENST00000398531	ensembl	human	known	69_37n	silent	32	28.26	13	SNP	0.175	C
LRIT3	345193	genome.wustl.edu	37	4	110772968	110772968	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr4:110772968C>T	ENST00000594814.1	+	2	425	c.425C>T	c.(424-426)aCc>aTc	p.T142I	LRIT3_ENST00000327908.3_5'UTR|LRIT3_ENST00000379920.3_Missense_Mutation_p.T97I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	142					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AACAAAATAACCAGTGTGCCA	0.502																																						dbGAP											0													87.0	71.0	76.0					4																	110772968		692	1591	2283	-	-	-	SO:0001583	missense	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.425C>T	4.37:g.110772968C>T	ENSP00000469759:p.Thr142Ile		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T97I	ENST00000594814.1	37	c.290	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249645	0.80024	.	.	ENSG00000183423	ENST00000379920	T	0.60040	0.22	5.91	4.1	0.47936	.	0.201794	0.52532	D	0.000079	T	0.63780	0.2540	M	0.76433	2.335	0.80722	D	1	P	0.50617	0.937	P	0.50537	0.643	T	0.63537	-0.6615	10	0.38643	T	0.18	.	11.4995	0.50428	0.0:0.8061:0.1263:0.0676	.	97	Q3SXY7	LRIT3_HUMAN	I	97	ENSP00000369252:T97I	ENSP00000369252:T97I	T	+	2	0	LRIT3	110992417	0.011000	0.17503	0.999000	0.59377	0.922000	0.55478	2.266000	0.43320	2.793000	0.96121	0.655000	0.94253	ACC	LRIT3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000183423		0.502	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	73	0.00	0	C	NM_198506		110772968	110772968	+1	no_errors	ENST00000379920	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	T
MFSD9	84804	genome.wustl.edu	37	2	103340326	103340326	+	Frame_Shift_Del	DEL	G	G	-	rs373319301		TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr2:103340326delG	ENST00000258436.5	-	5	513	c.470delC	c.(469-471)tctfs	p.S157fs		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	157					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AACCACATCAGAAAGTAGAGC	0.488																																						dbGAP											0													74.0	77.0	76.0					2																	103340326		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.470delC	2.37:g.103340326delG	ENSP00000258436:p.Ser157fs		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Frame_Shift_Del	DEL	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom	p.S157fs	ENST00000258436.5	37	c.470	CCDS2063.1	2																																																																																			MFSD9	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom	ENSG00000135953		0.488	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	48	0.00	0	G	NM_032718		103340326	103340326	-1	no_errors	ENST00000258436	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
MYO1B	4430	genome.wustl.edu	37	2	192279367	192279367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr2:192279367delA	ENST00000392318.3	+	29	3378	c.3131delA	c.(3130-3132)gatfs	p.D1044fs	MYO1B_ENST00000392316.1_Frame_Shift_Del_p.D1015fs|MYO1B_ENST00000304164.4_Frame_Shift_Del_p.D1044fs|MYO1B_ENST00000339514.4_Frame_Shift_Del_p.D986fs|MYO1B_ENST00000439065.2_Frame_Shift_Del_p.D289fs	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1044	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCACAAAATGATGGCTTCTTC	0.393																																						dbGAP											0													74.0	68.0	70.0					2																	192279367		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3131delA	2.37:g.192279367delA	ENSP00000376132:p.Asp1044fs		O43794|Q7Z6L5	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1044fs	ENST00000392318.3	37	c.3131	CCDS46477.1	2																																																																																			MYO1B	-	pfam_Myosin_tail_2	ENSG00000128641		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	60	0.00	0	A	NM_012223		192279367	192279367	+1	no_errors	ENST00000304164	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
NFRKB	4798	genome.wustl.edu	37	11	129751713	129751713	+	Silent	SNP	T	T	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr11:129751713T>A	ENST00000446488.3	-	11	1330	c.1227A>T	c.(1225-1227)ccA>ccT	p.P409P	NFRKB_ENST00000524794.1_Silent_p.P434P|NFRKB_ENST00000524746.1_Silent_p.P409P|NFRKB_ENST00000304521.5_Silent_p.P409P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	409	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGGAGCTGGCTGGCGATGACT	0.547											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													33.0	34.0	34.0					11																	129751713		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1227A>T	11.37:g.129751713T>A		1574	Q12869|Q15312|Q9H048	Silent	SNP	NULL	p.P434	ENST00000446488.3	37	c.1302	CCDS44770.1	11																																																																																			NFRKB	-	NULL	ENSG00000170322		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	34	0.00	0	T	NM_006165		129751713	129751713	-1	no_errors	ENST00000524794	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.422	A
NUP210	23225	genome.wustl.edu	37	3	13418986	13418986	+	Silent	SNP	G	G	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr3:13418986G>A	ENST00000254508.5	-	9	1204	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	374					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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCTGAACTTGTCAAAAACTT	0.557																																						dbGAP											0													177.0	168.0	171.0					3																	13418986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1122C>T	3.37:g.13418986G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.D374	ENST00000254508.5	37	c.1122	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	52	0.00	0	G	NM_024923		13418986	13418986	-1	no_errors	ENST00000254508	ensembl	human	known	69_37n	silent	24	13.79	4	SNP	0.998	A
OSBPL5	114879	genome.wustl.edu	37	11	3115043	3115043	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr11:3115043C>A	ENST00000263650.7	-	16	1901	c.1742G>T	c.(1741-1743)aGc>aTc	p.S581I	OSBPL5_ENST00000348039.5_Missense_Mutation_p.S513I|OSBPL5_ENST00000389989.3_Missense_Mutation_p.S513I|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S492I|OSBPL5_ENST00000478260.1_Missense_Mutation_p.S35I|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S212I	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	581					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTGGTTGATGCTGGTGCTACC	0.662																																						dbGAP											0													59.0	56.0	57.0					11																	3115043		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1742G>T	11.37:g.3115043C>A	ENSP00000263650:p.Ser581Ile		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S581I	ENST00000263650.7	37	c.1742	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804359	0.16467	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.49720	0.77;1.38;1.38;0.77;1.38;0.78;1.38	4.19	-0.109	0.13584	.	0.539372	0.19089	N	0.123002	T	0.40067	0.1102	M	0.68952	2.095	0.30024	N	0.814043	B;B;B;B	0.29805	0.152;0.202;0.257;0.048	B;B;B;B	0.32583	0.063;0.148;0.145;0.063	T	0.33803	-0.9854	10	0.23302	T	0.38	-20.2759	6.5034	0.22182	0.0:0.6433:0.1299:0.2268	.	492;542;513;581	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	I	35;581;513;134;492;212;513;200	ENSP00000437141:S35I;ENSP00000263650:S581I;ENSP00000374639:S513I;ENSP00000431412:S134I;ENSP00000433342:S492I;ENSP00000441551:S212I;ENSP00000302872:S513I	ENSP00000263650:S581I	S	-	2	0	OSBPL5	3071619	0.929000	0.31497	0.082000	0.20525	0.546000	0.35178	1.021000	0.30040	-0.206000	0.10203	-0.424000	0.05967	AGC	OSBPL5	-	pfam_Oxysterol-bd	ENSG00000021762		0.662	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	49	0.00	0	C			3115043	3115043	-1	no_errors	ENST00000263650	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.471	A
OSR2	116039	genome.wustl.edu	37	8	99963879	99963880	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr8:99963879_99963880delTG	ENST00000297565.4	+	4	1385_1386	c.889_890delTG	c.(889-891)tgtfs	p.C297fs	OSR2_ENST00000457907.2_Frame_Shift_Del_p.C418fs|OSR2_ENST00000522510.1_Frame_Shift_Del_p.C297fs|OSR2_ENST00000435298.2_Frame_Shift_Del_p.V270fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	297					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)			CAGGCGAAACTGTGATCTGCGG	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.889_890delTG	8.37:g.99963881_99963882delTG	ENSP00000297565:p.Cys297fs		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C418fs	ENST00000297565.4	37	c.1252_1253	CCDS47901.1	8																																																																																			OSR2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164920		0.569	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	46	0.00	0	TG	NM_053001		99963879	99963880	+1	no_errors	ENST00000457907	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000:1.000	-
PYGL	5836	genome.wustl.edu	37	14	51398401	51398401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr14:51398401delT	ENST00000216392.7	-	4	850	c.518delA	c.(517-519)gatfs	p.D173fs	PYGL_ENST00000532462.1_Frame_Shift_Del_p.D173fs|PYGL_ENST00000544180.2_Frame_Shift_Del_p.D139fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	173					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CTGCCATCCATCTCGGATCTT	0.408																																						dbGAP											0													107.0	99.0	102.0					14																	51398401		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.518delA	14.37:g.51398401delT	ENSP00000216392:p.Asp173fs		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Del	DEL	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.D173fs	ENST00000216392.7	37	c.518	CCDS32080.1	14																																																																																			PYGL	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.408	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3	45	0.00	0	T	NM_002863		51398401	51398401	-1	no_errors	ENST00000216392	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
RASA4CP	401331	genome.wustl.edu	37	7	44070465	44070465	+	RNA	DEL	G	G	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr7:44070465delG	ENST00000446874.1	-	0	537									RAS p21 protein activator 4C, pseudogene																		CACTCCTGCAGGGTCACCCGT	0.602																																						dbGAP											0																																										-	-	-			0					7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44070465delG				RNA	DEL	-	NULL	ENST00000446874.1	37	NULL		7																																																																																			RASA4CP	-	-	ENSG00000228903		0.602	RASA4CP-003	KNOWN	basic	processed_transcript	RASA4CP	HGNC	pseudogene	OTTHUMT00000339613.1	26	0.00	0	G	NR_024116		44070465	44070465	-1	no_errors	ENST00000425524	ensembl	human	known	69_37n	rna	5	28.57	2	DEL	1.000	-
RYR3	6263	genome.wustl.edu	37	15	33962709	33962709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr15:33962709delC	ENST00000389232.4	+	38	5882	c.5812delC	c.(5812-5814)cccfs	p.P1938fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.P1938fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1938	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAGGCCCACCCAAGCCAGA	0.498																																						dbGAP											0													72.0	85.0	81.0					15																	33962709		1947	4139	6086	-	-	-	SO:0001589	frameshift_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5812delC	15.37:g.33962709delC	ENSP00000373884:p.Pro1938fs		O15175|Q15412	Frame_Shift_Del	DEL	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K1939fs	ENST00000389232.4	37	c.5812	CCDS45210.1	15																																																																																			RYR3	-	NULL	ENSG00000198838		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	72	0.00	0	C			33962709	33962709	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.932	-
SYNE1	23345	genome.wustl.edu	37	6	152454589	152454589	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr6:152454589C>A	ENST00000367255.5	-	143	26424	c.25823G>T	c.(25822-25824)aGa>aTa	p.R8608I	SYNE1_ENST00000423061.1_Missense_Mutation_p.R8560I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8560I|SYNE1_ENST00000356820.4_Missense_Mutation_p.R3132I|SYNE1_ENST00000539504.1_Missense_Mutation_p.R763I|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8220I|SYNE1_ENST00000354674.4_Missense_Mutation_p.R786I|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8608I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8608					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGGCTACTCTGAGTTGGGA	0.373										HNSCC(10;0.0054)																												dbGAP											0													63.0	61.0	62.0					6																	152454589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25823G>T	6.37:g.152454589C>A	ENSP00000356224:p.Arg8608Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8608I	ENST00000367255.5	37	c.25823	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692696	0.48202	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.61	0.546	0.17196	.	0.405233	0.20695	N	0.087396	T	0.16128	0.0388	L	0.53249	1.67	0.42899	D	0.994221	P;P;B;B;P	0.35944	0.523;0.523;0.351;0.238;0.529	B;B;B;B;B	0.34180	0.177;0.177;0.17;0.082;0.158	T	0.05194	-1.0900	10	0.72032	D	0.01	.	8.9394	0.35720	0.0:0.2959:0.0:0.7041	.	8608;8608;8560;8560;810	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8608;763;1254;8560;8608;8560;8220;3132;793;788;1553;786	ENSP00000356224:R8608I;ENSP00000441052:R763I;ENSP00000356226:R1254I;ENSP00000396024:R8560I;ENSP00000265368:R8608I;ENSP00000390975:R8560I;ENSP00000341887:R8220I;ENSP00000349276:R3132I;ENSP00000356220:R1553I;ENSP00000346701:R786I	ENSP00000265368:R8608I	R	-	2	0	SYNE1	152496282	1.000000	0.71417	0.668000	0.29813	0.821000	0.46438	2.200000	0.42724	-0.133000	0.11537	-0.302000	0.09304	AGA	SYNE1	-	NULL	ENSG00000131018		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	56	0.00	0	C	NM_182961		152454589	152454589	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	A
SMOC2	64094	genome.wustl.edu	37	6	168910728	168910728	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr6:168910728A>T	ENST00000356284.2	+	2	438	c.218A>T	c.(217-219)gAt>gTt	p.D73V	SMOC2_ENST00000354536.5_Missense_Mutation_p.D73V	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	73	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAGTGCAAAGATCCCCAGCTA	0.473																																						dbGAP											0													101.0	94.0	96.0					6																	168910728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.218A>T	6.37:g.168910728A>T	ENSP00000348630:p.Asp73Val		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.D73V	ENST00000356284.2	37	c.218	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212408	0.58452	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.04275	3.66;3.66	4.87	4.87	0.63330	Proteinase inhibitor I1, Kazal (1);Thyroglobulin type-1 (1);Protease inhibitor, Kazal-type (1);	0.049321	0.85682	D	0.000000	T	0.12178	0.0296	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.00679	-1.1613	10	0.72032	D	0.01	-13.9671	13.9579	0.64162	1.0:0.0:0.0:0.0	.	73;73	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	V	73	ENSP00000348630:D73V;ENSP00000346537:D73V	ENSP00000346537:D73V	D	+	2	0	SMOC2	168653577	1.000000	0.71417	0.907000	0.35723	0.307000	0.27823	8.088000	0.89523	1.932000	0.55993	0.363000	0.22086	GAT	SMOC2	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal	ENSG00000112562		0.473	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	85	0.00	0	A			168910728	168910728	+1	no_errors	ENST00000354536	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
TLR7	51284	genome.wustl.edu	37	X	12905869	12905869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chrX:12905869C>T	ENST00000380659.3	+	3	2381	c.2242C>T	c.(2242-2244)Cag>Tag	p.Q748*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	748					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGATGCCTTCCAGTTGCGATA	0.398																																						dbGAP											0													66.0	65.0	65.0					X																	12905869		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2242C>T	X.37:g.12905869C>T	ENSP00000370034:p.Gln748*		D1CS69|Q9NR98	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q748*	ENST00000380659.3	37	c.2242	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836984	0.91117	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.66	3.76	0.43208	.	0.526571	0.20225	N	0.096604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.1236	0.10116	0.2347:0.449:0.24:0.0763	.	.	.	.	X	748	.	ENSP00000370034:Q748X	Q	+	1	0	TLR7	12815790	0.000000	0.05858	0.983000	0.44433	0.415000	0.31203	0.033000	0.13754	1.140000	0.42260	-0.343000	0.07986	CAG	TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.398	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	70	0.00	0	C	NM_016562		12905869	12905869	+1	no_errors	ENST00000380659	ensembl	human	known	69_37n	nonsense	32	11.11	4	SNP	0.602	T
TMEM247	388946	genome.wustl.edu	37	2	46707888	46707888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr2:46707888delG	ENST00000434431.1	+	2	462	c.462delG	c.(460-462)gagfs	p.E154fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGCAGCAAGAGGCGGCGCCCC	0.682																																						dbGAP											0										59,2867		9,41,1413	15.0	19.0	18.0			1.5	0.0	2	dbSNP_130	19	233,5079		9,215,2432	no	frameshift	LOC388946	NM_001145051.2		18,256,3845	A1A1,A1R,RR		4.3863,2.0164,3.5445			46707888	292,7946	690	1589	2279	-	-	-	SO:0001589	frameshift_variant	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.462delG	2.37:g.46707888delG	ENSP00000388684:p.Glu154fs			Frame_Shift_Del	DEL	NULL	p.A155fs	ENST00000434431.1	37	c.462	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.682	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	11	0.00	0	G	NM_001145051		46707888	46707888	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.083	-
TNS3	64759	genome.wustl.edu	37	7	47408710	47408710	+	Silent	SNP	G	G	C			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr7:47408710G>C	ENST00000398879.1	-	17	1899	c.1533C>G	c.(1531-1533)acC>acG	p.T511T	TNS3_ENST00000355730.3_Silent_p.T271T|TNS3_ENST00000311160.9_Silent_p.T511T			Q68CZ2	TENS3_HUMAN	tensin 3	511					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCTTGTGGCAGGTGAAGGGAC	0.622																																						dbGAP											0													38.0	43.0	41.0					7																	47408710		1984	4152	6136	-	-	-	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1533C>G	7.37:g.47408710G>C			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T511	ENST00000398879.1	37	c.1533	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.622	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	44	0.00	0	G	NM_022748		47408710	47408710	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	1.000	C
USPL1	10208	genome.wustl.edu	37	13	31231753	31231753	+	Silent	SNP	A	A	G			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr13:31231753A>G	ENST00000255304.4	+	9	1881	c.1539A>G	c.(1537-1539)ccA>ccG	p.P513P		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	513					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CCTGCCTTCCACTTAAAAAGA	0.408																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													133.0	130.0	131.0					13																	31231753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1539A>G	13.37:g.31231753A>G			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.P513	ENST00000255304.4	37	c.1539	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	83	0.00	0	A	NM_005800		31231753	31231753	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	0.000	G
CFAP44	55779	genome.wustl.edu	37	3	113010507	113010507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr3:113010507G>T	ENST00000393845.2	-	35	5528	c.5462C>A	c.(5461-5463)tCg>tAg	p.S1821*	WDR52_ENST00000308346.6_3'UTR	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						CTTTAAGGCCGAAATCCTTTC	0.517																																						dbGAP											0													147.0	138.0	141.0					3																	113010507		692	1591	2283	-	-	-	SO:0001587	stop_gained	0																														ENST00000393845.2:c.5462C>A	3.37:g.113010507G>T	ENSP00000377428:p.Ser1821*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1821*	ENST00000393845.2	37	c.5462	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.751149|9.751149	0.99255|0.99255	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|.	.|.	.|.	6.04|6.04	-4.45|-4.45	0.03546|0.03546	.|.	.|140.266000	.|0.01203	.|U	.|0.007621	T|.	0.13329|.	0.0323|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37150|.	-0.9718|.	4|.	.|0.02654	.|T	.|1	1.063|1.063	7.7894|7.7894	0.29112|0.29112	0.3809:0.0:0.5076:0.1114|0.3809:0.0:0.5076:0.1114	.|.	.|.	.|.	.|.	L|X	957|1821	.|.	.|ENSP00000377428:S1821X	F|S	-|-	3|2	2|0	WDR52|WDR52	114493197|114493197	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.776000|0.776000	0.43924|0.43924	-0.728000|-0.728000	0.04925|0.04925	-1.169000|-1.169000	0.02772|0.02772	-0.254000|-0.254000	0.11334|0.11334	TTC|TCG	WDR52	-	NULL	ENSG00000206530		0.517	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		117	0.00	0	G			113010507	113010507	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	nonsense	23	14.81	4	SNP	0.000	T
WDR72	256764	genome.wustl.edu	37	15	54025306	54025306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr15:54025306delT	ENST00000396328.1	-	2	280	c.41delA	c.(40-42)aagfs	p.K14fs	WDR72_ENST00000360509.5_Frame_Shift_Del_p.K14fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.K14fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.K14fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	14										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGGAGGGGCCTTCTGTCCCCA	0.502																																						dbGAP											0													100.0	87.0	91.0					15																	54025306		2194	4293	6487	-	-	-	SO:0001589	frameshift_variant	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.41delA	15.37:g.54025306delT	ENSP00000379619:p.Lys14fs		Q7Z3I3|Q8N8X2	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K14fs	ENST00000396328.1	37	c.41	CCDS10151.1	15																																																																																			WDR72	-	smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166415		0.502	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	69	0.00	0	T	NM_182758		54025306	54025306	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.944	-
WWC3	55841	genome.wustl.edu	37	X	10046872	10046872	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chrX:10046872A>G	ENST00000380861.4	+	4	645	c.254A>G	c.(253-255)gAc>gGc	p.D85G	WWC3_ENST00000454666.1_Missense_Mutation_p.D85G	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	85					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACAAAGTATGACCCACACCAA	0.378																																						dbGAP											0													104.0	94.0	98.0					X																	10046872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.254A>G	X.37:g.10046872A>G	ENSP00000370242:p.Asp85Gly		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D85G	ENST00000380861.4	37	c.254	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492628	0.84962	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.31769	1.48;1.48	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65487	-0.6156	10	0.72032	D	0.01	-34.3999	14.2952	0.66308	1.0:0.0:0.0:0.0	.	85	Q9ULE0	WWC3_HUMAN	G	85	ENSP00000370242:D85G;ENSP00000399584:D85G	ENSP00000370242:D85G	D	+	2	0	WWC3	10006872	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.837000	0.86796	1.902000	0.55061	0.486000	0.48141	GAC	WWC3	-	NULL	ENSG00000047644		0.378	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	87	0.00	0	A	NM_015691		10046872	10046872	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	G
ZIC5	85416	genome.wustl.edu	37	13	100622505	100622505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr13:100622505delT	ENST00000267294.4	-	1	1658	c.1425delA	c.(1423-1425)aaafs	p.K475fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	475					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGCTTGTATTTGGCCTTGA	0.637																																						dbGAP											0													141.0	129.0	133.0					13																	100622505		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1425delA	13.37:g.100622505delT	ENSP00000267294:p.Lys475fs		Q5VYB0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K475fs	ENST00000267294.4	37	c.1425	CCDS9494.2	13																																																																																			ZIC5	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000139800		0.637	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	52	0.00	0	T	NM_033132		100622505	100622505	-1	no_errors	ENST00000267294	ensembl	human	novel	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
ZNF337	26152	genome.wustl.edu	37	20	25666719	25666720	+	Frame_Shift_Del	DEL	GG	GG	-	rs61750884	byFrequency	TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr20:25666719_25666720delGG	ENST00000376436.1	-	2	605_606	c.66_67delCC	c.(64-69)acccagfs	p.Q23fs	ZNF337_ENST00000538750.1_Frame_Shift_Del_p.Q23fs|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.Q23fs			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTCCTTCTGGGTGAAATCCA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.66_67delCC	20.37:g.25666719_25666720delGG	ENSP00000365619:p.Gln23fs		B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	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.Q23fs	ENST00000376436.1	37	c.67_66	CCDS13174.1	20																																																																																			ZNF337	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000130684		0.550	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	24	0.00	0	GG			25666719	25666720	-1	no_errors	ENST00000252979	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	0.001:0.001	-
ZNF354C	30832	genome.wustl.edu	37	5	178506093	178506093	+	Silent	SNP	A	A	G			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr5:178506093A>G	ENST00000315475.6	+	5	966	c.660A>G	c.(658-660)gaA>gaG	p.E220E		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTGTAATGAATGTGGGAAGA	0.353																																						dbGAP											0													48.0	50.0	50.0					5																	178506093		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.660A>G	5.37:g.178506093A>G			Q6P4P9|Q8NFX1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E220	ENST00000315475.6	37	c.660	CCDS4443.1	5																																																																																			ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.353	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	46	0.00	0	A			178506093	178506093	+1	no_errors	ENST00000315475	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	0.023	G
ZSCAN2	54993	genome.wustl.edu	37	15	85164374	85164374	+	Silent	SNP	C	C	T			TCGA-AO-A1KO-01A-31D-A188-09	TCGA-AO-A1KO-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2cdecb2b-40b1-4419-bcd9-101cee78966c	9c3bd11e-386d-4ad4-a8c4-73eae17d537e	g.chr15:85164374C>T	ENST00000448803.2	+	3	1240	c.948C>T	c.(946-948)agC>agT	p.S316S	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.S316S|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.S315S|ZSCAN2_ENST00000358472.3_Silent_p.S166S	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	316					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGAGCTTCAGCAGGAGTCCCA	0.572																																						dbGAP											0													81.0	80.0	80.0					15																	85164374		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.948C>T	15.37:g.85164374C>T			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S316	ENST00000448803.2	37	c.948	CCDS10329.2	15																																																																																			ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.572	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	60	0.00	0	C	NM_017894		85164374	85164374	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	silent	16	20.00	4	SNP	1.000	T
