#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADAMTS9	56999	genome.wustl.edu	37	3	64587686	64587686	+	Silent	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:64587686C>T	ENST00000498707.1	-	26	4293	c.3951G>A	c.(3949-3951)cgG>cgA	p.R1317R	ADAMTS9_ENST00000295903.4_Silent_p.R1289R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1317					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCTGGCGCTCCGGGGACGAT	0.572																																						dbGAP											0													78.0	81.0	80.0					3																	64587686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3951G>A	3.37:g.64587686C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt	p.G373E	ENST00000498707.1	37	c.1118	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432040	0.04669	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.55	1.28	0.21552	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.29403	N	0.861816	.	.	.	.	.	.	T	0.27673	-1.0067	4	.	.	.	.	5.1814	0.15161	0.0:0.3061:0.1702:0.5237	.	.	.	.	E	373	.	.	G	-	2	0	ADAMTS9	64562726	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	-0.269000	0.08596	0.373000	0.24621	0.591000	0.81541	GGA	ADAMTS9	-	NULL	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	108	0.00	0	C			64587686	64587686	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000481060	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	0.262	T
ABI3BP	25890	genome.wustl.edu	37	3	100595366	100595366	+	Silent	SNP	G	G	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:100595366G>T	ENST00000284322.5	-	7	865	c.756C>A	c.(754-756)atC>atA	p.I252I	ABI3BP_ENST00000495063.1_Silent_p.I252I|ABI3BP_ENST00000471714.1_Silent_p.I252I	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	252					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTGCTTGATGATTGTTATTG	0.343																																						dbGAP											0													175.0	163.0	167.0					3																	100595366		1868	4098	5966	-	-	-	SO:0001819	synonymous_variant	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.756C>A	3.37:g.100595366G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	NULL	p.H28N	ENST00000284322.5	37	c.82	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947897	0.18356	.	.	ENSG00000154175	ENST00000483129	.	.	.	5.39	0.953	0.19590	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-4.7395	1.1792	0.01841	0.1848:0.1253:0.2674:0.4225	.	.	.	.	N	28	.	.	H	-	1	0	ABI3BP	102078056	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.568000	0.23623	0.623000	0.30267	0.650000	0.86243	CAT	ABI3BP	-	NULL	ENSG00000154175		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	185	0.00	0	G			100595366	100595366	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000483129	ensembl	human	novel	69_37n	missense	250	32.98	125	SNP	0.999	T
ADCY1	107	genome.wustl.edu	37	7	45717647	45717647	+	Silent	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr7:45717647C>T	ENST00000297323.7	+	9	1807	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	595					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACAAACATGTCGAACGGGAGC	0.562																																						dbGAP											0													83.0	85.0	84.0					7																	45717647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1785C>T	7.37:g.45717647C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2L8|Q75MI1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V595	ENST00000297323.7	37	c.1785	CCDS34631.1	7																																																																																			ADCY1	-	NULL	ENSG00000164742		0.562	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	103	0.00	0	C	NM_021116		45717647	45717647	+1	no_errors	ENST00000297323	ensembl	human	known	69_37n	silent	75	30.63	34	SNP	0.000	T
AP1G1	164	genome.wustl.edu	37	16	71792720	71792720	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr16:71792720G>A	ENST00000299980.4	-	11	1520	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	AP1G1_ENST00000423132.2_Missense_Mutation_p.S363L|AP1G1_ENST00000569748.1_Missense_Mutation_p.S360L|SNORD71_ENST00000411292.1_RNA|AP1G1_ENST00000393512.3_Missense_Mutation_p.S363L|AP1G1_ENST00000433195.2_Missense_Mutation_p.S383L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	360					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCGTTTTATTGAGACATCCAA	0.403																																						dbGAP											0													137.0	114.0	122.0					16																	71792720		2198	4300	6498	-	-	-	SO:0001583	missense	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1079C>T	16.37:g.71792720G>A	ENSP00000299980:p.Ser360Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.S383L	ENST00000299980.4	37	c.1148	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.058823	0.93846	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.8	4.84	0.62591	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.056133	0.85682	N	0.000000	T	0.66519	0.2797	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.77611	-0.2523	10	0.87932	D	0	-10.7135	14.7775	0.69740	0.0693:0.0:0.9307:0.0	.	360;383;363	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	L	360;363;363;383;231;445	ENSP00000299980:S360L;ENSP00000377148:S363L;ENSP00000409153:S363L;ENSP00000403259:S383L	ENSP00000299980:S360L	S	-	2	0	AP1G1	70350221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.450000	0.47717	0.591000	0.81541	TCA	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000166747		0.403	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	113	0.00	0	G			71792720	71792720	-1	no_errors	ENST00000433195	ensembl	human	known	69_37n	missense	88	15.24	16	SNP	1.000	A
C1orf61	10485	genome.wustl.edu	37	1	156389981	156389982	+	Intron	INS	-	-	G	rs375932944|rs547267458	byFrequency	TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr1:156389981_156389982insG	ENST00000368243.1	-	3	92				MIR9-1_ENST00000385198.2_RNA	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ACTGGGGTGCTGGGGGGGTGAA	0.594													?|GGGGGGG|GGGGGGGG|unsure	23	0.00459265	0.0	0.0	5008	,	,		16504	0.0218		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.25-3325->C	1.37:g.156389988_156389988dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALL5|B1ALL8	Frame_Shift_Ins	INS	NULL	p.S49fs	ENST00000368243.1	37	c.148_147	CCDS1142.1	1																																																																																			C1orf61	-	NULL	ENSG00000125462		0.594	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	28	0.00	0	-	NM_006365		156389981	156389982	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000368242	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	0.000:0.000	G
C3orf52	79669	genome.wustl.edu	37	3	111821786	111821786	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:111821786G>A	ENST00000264848.5	+	3	429	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	C3orf52_ENST00000431717.2_Missense_Mutation_p.E124K|C3orf52_ENST00000430855.1_Missense_Mutation_p.E124K	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TGCTGAAGAGGAATTGCCTCA	0.348																																						dbGAP											0													82.0	76.0	78.0					3																	111821786		1892	4116	6008	-	-	-	SO:0001583	missense	0			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.370G>A	3.37:g.111821786G>A	ENSP00000264848:p.Glu124Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	NULL	p.E124K	ENST00000264848.5	37	c.370	CCDS46887.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.23|10.23	1.293986|1.293986	0.23564|0.23564	.|.	.|.	ENSG00000114529|ENSG00000114529	ENST00000430855;ENST00000431717;ENST00000264848|ENST00000484828	T;T;T|.	0.08807|.	3.05;3.05;3.05|.	5.66|5.66	2.71|2.71	0.32032|0.32032	.|.	0.606567|.	0.15011|.	N|.	0.285566|.	T|T	0.46521|0.46521	0.1397|0.1397	M|M	0.67953|0.67953	2.075|2.075	0.22226|0.22226	N|N	0.999276|0.999276	B;B;B|.	0.30851|.	0.077;0.297;0.019|.	B;B;B|.	0.34779|.	0.025;0.189;0.025|.	T|T	0.33471|0.33471	-0.9867|-0.9867	10|5	0.13108|.	T|.	0.6|.	-20.164|-20.164	7.5071|7.5071	0.27551|0.27551	0.089:0.3516:0.5594:0.0|0.089:0.3516:0.5594:0.0	.|.	124;124;124|.	Q5BVD1-2;Q5BVD1-3;Q5BVD1|.	.;.;TTMP_HUMAN|.	K|E	124|114	ENSP00000390333:E124K;ENSP00000399392:E124K;ENSP00000264848:E124K|.	ENSP00000264848:E124K|.	E|G	+|+	1|2	0|0	C3orf52|C3orf52	113304476|113304476	0.765000|0.765000	0.28485|0.28485	0.169000|0.169000	0.22859|0.22859	0.163000|0.163000	0.22366|0.22366	0.836000|0.836000	0.27545|0.27545	0.731000|0.731000	0.32448|0.32448	0.305000|0.305000	0.20034|0.20034	GAA|GGA	C3orf52	-	NULL	ENSG00000114529		0.348	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf52	HGNC	protein_coding	OTTHUMT00000353961.1	81	0.00	0	G	NM_024616		111821786	111821786	+1	no_errors	ENST00000431717	ensembl	human	known	69_37n	missense	112	11.72	15	SNP	0.512	A
CACUL1	143384	genome.wustl.edu	37	10	120450820	120450820	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr10:120450820C>T	ENST00000369151.3	-	7	1465	c.982G>A	c.(982-984)Gat>Aat	p.D328N	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	328					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										AATTTCTGATCTTGAGCAGCA	0.388																																						dbGAP											0													142.0	146.0	145.0					10																	120450820		1812	4079	5891	-	-	-	SO:0001583	missense	0			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.982G>A	10.37:g.120450820C>T	ENSP00000358147:p.Asp328Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.D328N	ENST00000369151.3	37	c.982	CCDS41570.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.724100	0.96847	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	T	0.76316	-1.01	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.83889	0.5352	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82719	-0.0318	10	0.45353	T	0.12	-6.7773	20.4324	0.99085	0.0:1.0:0.0:0.0	.	328	Q86Y37	CJ046_HUMAN	N	139;205;328	ENSP00000358147:D328N	ENSP00000358147:D328N	D	-	1	0	C10orf46	120440810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.947000	0.75959	2.833000	0.97629	0.585000	0.79938	GAT	CACUL1	-	NULL	ENSG00000151893		0.388	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	59	0.00	0	C	NM_153810		120450820	120450820	-1	no_errors	ENST00000369151	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	T
CASP8	841	genome.wustl.edu	37	2	202137448	202137448	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:202137448A>C	ENST00000432109.2	+	5	688	c.499A>C	c.(499-501)Atc>Ctc	p.I167L	CASP8_ENST00000358485.4_Missense_Mutation_p.I226L|CASP8_ENST00000323492.7_Missense_Mutation_p.I167L|CASP8_ENST00000264274.9_Missense_Mutation_p.I167L|CASP8_ENST00000392259.2_Missense_Mutation_p.I167L|CASP8_ENST00000392258.3_Missense_Mutation_p.I167L|CASP8_ENST00000264275.5_Missense_Mutation_p.I199L|CASP8_ENST00000392266.3_Missense_Mutation_p.I167L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	167	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTGCCCAAATCAACAAGAG	0.443										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													146.0	149.0	148.0					2																	202137448		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.499A>C	2.37:g.202137448A>C	ENSP00000412523:p.Ile167Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.I226L	ENST00000432109.2	37	c.676	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106001	0.37145	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.84370	4.24;-1.84;-1.84;-1.84;4.25;-1.84;-1.84;-1.84;-1.84;4.2;-1.84;4.24;-1.84;-1.84	5.75	-6.17	0.02091	DEATH-like (2);Death effector (3);	0.996520	0.08139	N	0.991961	T	0.76849	0.4045	L	0.43757	1.38	0.09310	N	1	B;B;B;B;P;B;B;B;B;B	0.35050	0.008;0.068;0.006;0.17;0.482;0.006;0.0;0.004;0.063;0.18	B;B;B;B;B;B;B;B;B;B	0.35655	0.018;0.083;0.06;0.072;0.207;0.01;0.011;0.016;0.067;0.061	T	0.62006	-0.6945	10	0.02654	T	1	.	17.3267	0.87251	0.4437:0.0:0.5563:0.0	.	167;167;167;167;167;226;167;167;199;167	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	L	167;167;167;167;167;199;64;167;167;226;167;167;167;30;30	ENSP00000376091:I167L;ENSP00000264274:I167L;ENSP00000376088:I167L;ENSP00000376094:I167L;ENSP00000412523:I167L;ENSP00000264275:I199L;ENSP00000391709:I64L;ENSP00000376087:I167L;ENSP00000388306:I167L;ENSP00000351273:I226L;ENSP00000397528:I167L;ENSP00000325722:I167L;ENSP00000390346:I30L;ENSP00000394434:I30L	ENSP00000264274:I167L	I	+	1	0	CASP8	201845693	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.271000	0.08572	-2.084000	0.00866	-1.934000	0.00508	ATC	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	ENSG00000064012		0.443	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	213	0.00	0	A	NM_001228		202137448	202137448	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	223	13.46	35	SNP	0.000	C
CCNG2	901	genome.wustl.edu	37	4	78080581	78080581	+	Missense_Mutation	SNP	C	C	T	rs558158350		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr4:78080581C>T	ENST00000316355.5	+	3	556	c.200C>T	c.(199-201)gCc>gTc	p.A67V	CCNG2_ENST00000395640.1_Missense_Mutation_p.A67V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.A67V|CCNG2_ENST00000354403.5_Missense_Mutation_p.A67V|CCNG2_ENST00000502280.1_Missense_Mutation_p.A67V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	67					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGAGTTTAGCCAACTTTTTT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		18299	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													158.0	158.0	158.0					4																	78080581		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.200C>T	4.37:g.78080581C>T	ENSP00000315743:p.Ala67Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A67V	ENST00000316355.5	37	c.200	CCDS3581.1	4	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792789	0.70452	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;2.31;2.31	5.41	4.55	0.56014	Cyclin, N-terminal (1);Cyclin-like (3);	0.138393	0.64402	D	0.000004	T	0.32496	0.0831	N	0.24115	0.695	0.26686	N	0.971444	B;B	0.19200	0.008;0.034	B;B	0.25987	0.04;0.065	T	0.17018	-1.0383	10	0.29301	T	0.29	-4.9053	15.7494	0.77972	0.1377:0.8623:0.0:0.0	.	67;67	B4DF25;Q16589	.;CCNG2_HUMAN	V	67	ENSP00000315743:A67V;ENSP00000346379:A67V;ENSP00000424665:A67V;ENSP00000379002:A67V;ENSP00000426085:A67V;ENSP00000426476:A67V	ENSP00000315743:A67V	A	+	2	0	CCNG2	78299605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.597000	0.61062	1.400000	0.46741	0.655000	0.94253	GCC	CCNG2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000138764		0.333	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	HGNC	protein_coding	OTTHUMT00000252404.3	146	0.00	0	C	NM_004354		78080581	78080581	+1	no_errors	ENST00000316355	ensembl	human	known	69_37n	missense	116	20.27	30	SNP	1.000	T
CLASP1	23332	genome.wustl.edu	37	2	122161955	122161955	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:122161955G>A	ENST00000263710.4	-	26	3114	c.2725C>T	c.(2725-2727)Cat>Tat	p.H909Y	CLASP1_ENST00000541377.1_Missense_Mutation_p.H887Y|CLASP1_ENST00000455322.2_Missense_Mutation_p.H881Y|CLASP1_ENST00000545861.1_Missense_Mutation_p.H656Y|CLASP1_ENST00000397587.3_Missense_Mutation_p.H889Y|CLASP1_ENST00000541859.1_Missense_Mutation_p.H642Y|CLASP1_ENST00000409078.3_Missense_Mutation_p.H881Y	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	909					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACCTTGCTATGAGGGTCAGCA	0.408																																						dbGAP											0													100.0	99.0	100.0					2																	122161955		2004	4172	6176	-	-	-	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2725C>T	2.37:g.122161955G>A	ENSP00000263710:p.His909Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H909Y	ENST00000263710.4	37	c.2725		2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577809	0.86645	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.086870	0.85682	D	0.000000	T	0.80481	0.4631	L	0.58101	1.795	0.80722	D	1	D;D;P;P	0.76494	0.997;0.999;0.889;0.822	D;D;P;P	0.79784	0.992;0.993;0.643;0.789	T	0.81649	-0.0837	10	0.87932	D	0	-27.8267	19.4352	0.94788	0.0:0.0:1.0:0.0	.	881;889;887;909	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	Y	909;881;889;887;642;881;656	ENSP00000263710:H909Y;ENSP00000389372:H881Y;ENSP00000380717:H889Y;ENSP00000441625:H887Y;ENSP00000441770:H642Y;ENSP00000386442:H881Y;ENSP00000438620:H656Y	ENSP00000263710:H909Y	H	-	1	0	CLASP1	121878425	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	9.496000	0.97967	2.599000	0.87857	0.563000	0.77884	CAT	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.408	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		173	0.00	0	G	NM_015282		122161955	122161955	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	missense	233	14.86	41	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11137916	11137916	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr16:11137916G>A	ENST00000409790.1	+	16	2032	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R583Q|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCTTGTACGACATTTTTAT	0.443																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											103.0	98.0	100.0					16																	11137916		1995	4184	6179	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1802G>A	16.37:g.11137916G>A	ENSP00000387122:p.Arg601Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.R601Q	ENST00000409790.1	37	c.1802	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.503012	0.96371	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.51071	0.72	5.52	5.52	0.82312	.	0.114616	0.56097	D	0.000029	T	0.63965	0.2556	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.62382	0.666;0.901	T	0.62900	-0.6756	10	0.45353	T	0.12	-18.0061	16.9679	0.86291	0.0:0.0:1.0:0.0	.	601;583	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Q	601;601;583	ENSP00000387122:R601Q	ENSP00000386495:R583Q	R	+	2	0	CLEC16A	11045417	0.999000	0.42202	0.673000	0.29887	0.995000	0.86356	8.210000	0.89753	2.601000	0.87937	0.650000	0.86243	CGA	CLEC16A	-	NULL	ENSG00000038532		0.443	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	100	0.00	0	G	NM_015226		11137916	11137916	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	83	16.16	16	SNP	0.951	A
CLEC6A	93978	genome.wustl.edu	37	12	8618227	8618227	+	Splice_Site	SNP	T	T	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:8618227T>C	ENST00000382073.3	+	4	555		c.e4+2			NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A						defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GCAGAGCAGGTACTGTTTCCA	0.348																																						dbGAP											0													113.0	102.0	106.0					12																	8618227		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.369+2T>C	12.37:g.8618227T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUK3	Splice_Site	SNP	-	e4+2	ENST00000382073.3	37	c.369+2	CCDS31739.1	12	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361373	0.24684	.	.	ENSG00000205846	ENST00000382073	.	.	.	3.77	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2518	0.20850	0.2224:0.0:0.0:0.7776	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC6A	8509494	1.000000	0.71417	0.927000	0.36925	0.506000	0.33950	4.042000	0.57347	0.736000	0.32559	0.455000	0.32223	.	CLEC6A	-	-	ENSG00000205846		0.348	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC6A	HGNC	protein_coding	OTTHUMT00000400562.1	99	0.00	0	T	NM_001007033	Intron	8618227	8618227	+1	no_errors	ENST00000382073	ensembl	human	known	69_37n	splice_site	74	25.25	25	SNP	0.946	C
CRX	1406	genome.wustl.edu	37	19	48343000	48343000	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:48343000G>A	ENST00000221996.7	+	4	882	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.V226M	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	226					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCTCCCATGGTGCCCCAGCT	0.662																																					Pancreas(57;461 1196 22201 40716 47188)	dbGAP											0													105.0	120.0	115.0					19																	48343000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.676G>A	19.37:g.48343000G>A	ENSP00000221996:p.Val226Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V226M	ENST00000221996.7	37	c.676	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765373	0.49574	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.85773	-2.03;-2.03	4.21	2.04	0.26737	Transcription factor Otx, C-terminal (1);	0.421538	0.23288	N	0.049839	T	0.70911	0.3278	N	0.22421	0.69	0.25414	N	0.988337	B	0.18166	0.026	B	0.17098	0.017	T	0.58148	-0.7687	10	0.40728	T	0.16	-9.2981	4.4462	0.11598	0.2078:0.1852:0.607:0.0	.	226	O43186	CRX_HUMAN	M	226	ENSP00000221996:V226M;ENSP00000445565:V226M	ENSP00000221996:V226M	V	+	1	0	CRX	53034812	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.937000	0.56575	0.415000	0.25817	0.467000	0.42956	GTG	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.662	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	113	0.00	0	G	NM_000554		48343000	48343000	+1	no_errors	ENST00000221996	ensembl	human	known	69_37n	missense	129	14.57	22	SNP	1.000	A
DCLRE1C	64421	genome.wustl.edu	37	10	14951002	14951002	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr10:14951002C>G	ENST00000378278.2	-	14	1521	c.1484G>C	c.(1483-1485)aGa>aCa	p.R495T	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R380T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R380T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R148T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R375T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R375T|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R375T|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R375T|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R375T|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R380T			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	495					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTCATCATTTCTTTTAAAGAA	0.468								Non-homologous end-joining																														dbGAP											0													56.0	55.0	55.0					10																	14951002		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1484G>C	10.37:g.14951002C>G	ENSP00000367527:p.Arg495Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.R495T	ENST00000378278.2	37	c.1484	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438096	0.25900	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.76	3.7	0.42460	.	0.477180	0.25258	N	0.031969	T	0.25754	0.0627	M	0.68317	2.08	0.09310	N	1	P;B	0.37276	0.589;0.005	B;B	0.36608	0.229;0.001	T	0.10823	-1.0613	10	0.27785	T	0.31	.	10.0601	0.42270	0.0:0.7535:0.0:0.2465	.	380;495	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	T	375;380;380;380;375;375;375;495;375;148	ENSP00000400529:R375T;ENSP00000367492:R380T;ENSP00000350349:R380T;ENSP00000367496:R380T;ENSP00000380030:R375T;ENSP00000367503:R375T;ENSP00000367502:R375T;ENSP00000367527:R495T;ENSP00000367506:R375T;ENSP00000367488:R148T	ENSP00000350349:R380T	R	-	2	0	DCLRE1C	14991008	0.530000	0.26330	0.944000	0.38274	0.979000	0.70002	0.546000	0.23284	1.431000	0.47355	0.655000	0.94253	AGA	DCLRE1C	-	NULL	ENSG00000152457		0.468	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	108	0.00	0	C	NM_022487		14951002	14951002	-1	no_errors	ENST00000378278	ensembl	human	known	69_37n	missense	97	26.28	36	SNP	0.140	G
DGKG	1608	genome.wustl.edu	37	3	185986615	185986615	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:185986615C>T	ENST00000265022.3	-	12	1630	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	DGKG_ENST00000344484.4_Missense_Mutation_p.R364Q|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	364					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACGCAGTGCCGCGCGGTGAC	0.602																																						dbGAP											0													73.0	57.0	62.0					3																	185986615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1091G>A	3.37:g.185986615C>T	ENSP00000265022:p.Arg364Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R364Q	ENST00000265022.3	37	c.1091	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719052	0.48622	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84370	-1.84;-1.84;-1.84	5.16	3.1	0.35709	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.264350	0.30989	N	0.008464	T	0.66218	0.2767	N	0.19112	0.55	0.80722	D	1	B;P	0.44946	0.007;0.846	B;B	0.30105	0.01;0.111	T	0.66980	-0.5786	10	0.51188	T	0.08	.	6.2026	0.20585	0.3354:0.5696:0.0:0.095	.	364;364	P49619-2;P49619	.;DGKG_HUMAN	Q	364;364;115	ENSP00000265022:R364Q;ENSP00000339777:R364Q;ENSP00000395526:R115Q	ENSP00000265022:R364Q	R	-	2	0	DGKG	187469309	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	4.305000	0.59110	1.345000	0.45676	-0.214000	0.12660	CGG	DGKG	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000058866		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	106	0.00	0	C			185986615	185986615	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	missense	43	57.00	57	SNP	1.000	T
DPYS	1807	genome.wustl.edu	37	8	105479017	105479018	+	Frame_Shift_Ins	INS	-	-	C	rs367711099		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr8:105479017_105479018insC	ENST00000351513.2	-	1	263_264	c.131_132insG	c.(130-132)ggcfs	p.G44fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	44					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCGCAGGAGCGCCCCCGGGAGG	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.132dupG	8.37:g.105479022_105479022dupC	ENSP00000276651:p.Gly44fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.A45fs	ENST00000351513.2	37	c.132_131	CCDS6302.1	8																																																																																			DPYS	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.713	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	19	0.00	0	-	NM_001385		105479017	105479018	-1	no_errors	ENST00000351513	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.000:0.000	C
ESAM	90952	genome.wustl.edu	37	11	124626494	124626494	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:124626494C>T	ENST00000278927.5	-	3	523	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	132	Ig-like V-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCTTGTTTGTCTTGCACATTC	0.557																																						dbGAP											0													128.0	122.0	124.0					11																	124626494		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.394G>A	11.37:g.124626494C>T	ENSP00000278927:p.Asp132Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVN8|Q96T50	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D132N	ENST00000278927.5	37	c.394	CCDS8453.1	11	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667682	0.29604	.	.	ENSG00000149564	ENST00000278927	T	0.63255	-0.03	5.63	4.71	0.59529	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.424132	0.28109	N	0.016567	T	0.53562	0.1804	L	0.60455	1.87	0.09310	N	0.999995	B;B	0.30542	0.284;0.034	B;B	0.31245	0.126;0.034	T	0.42189	-0.9466	10	0.19147	T	0.46	.	7.8402	0.29393	0.1587:0.7583:0.0:0.083	.	132;132	F8WDW9;Q96AP7	.;ESAM_HUMAN	N	132	ENSP00000278927:D132N	ENSP00000278927:D132N	D	-	1	0	ESAM	124131704	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	0.104000	0.15313	1.355000	0.45865	0.655000	0.94253	GAC	ESAM	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000149564		0.557	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESAM	HGNC	protein_coding	OTTHUMT00000324686.1	82	0.00	0	C	NM_138961		124626494	124626494	-1	no_errors	ENST00000278927	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.006	T
EVA1C	59271	genome.wustl.edu	37	21	33873789	33873789	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr21:33873789G>C	ENST00000300255.2	+	6	1316	c.843G>C	c.(841-843)caG>caC	p.Q281H	EVA1C_ENST00000382699.3_Missense_Mutation_p.Q281H|EVA1C_ENST00000485488.1_Intron|EVA1C_ENST00000401402.3_Missense_Mutation_p.Q233H	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	281						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CTTTGAAGCAGAAAGATGGTG	0.388																																						dbGAP											0													43.0	43.0	43.0					21																	33873789		2037	3855	5892	-	-	-	SO:0001583	missense	0			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.843G>C	21.37:g.33873789G>C	ENSP00000300255:p.Gln281His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND58|Q8IXZ0	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom	p.Q281H	ENST00000300255.2	37	c.843	CCDS13614.1	21	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111286	0.37242	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.08896	3.08;3.04;3.07	4.73	4.73	0.59995	.	0.354279	0.30752	N	0.008945	T	0.12944	0.0314	M	0.70595	2.14	0.36101	D	0.844159	P;P	0.39131	0.612;0.661	B;B	0.40534	0.319;0.332	T	0.08953	-1.0697	9	.	.	.	-2.0113	11.1986	0.48728	0.0911:0.0:0.9089:0.0	.	281;281	A6ND58;P58658	.;CU063_HUMAN	H	281;233;281	ENSP00000300255:Q281H;ENSP00000384594:Q233H;ENSP00000372146:Q281H	.	Q	+	3	2	C21orf63	32795660	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	4.321000	0.59209	2.332000	0.79248	0.650000	0.86243	CAG	FAM176C	-	NULL	ENSG00000166979		0.388	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM176C	HGNC	protein_coding	OTTHUMT00000139403.1	161	0.00	0	G	NM_058187		33873789	33873789	+1	no_errors	ENST00000300255	ensembl	human	known	69_37n	missense	188	14.67	33	SNP	1.000	C
FARP2	9855	genome.wustl.edu	37	2	242396201	242396201	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:242396201G>A	ENST00000264042.3	+	14	1621	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	FARP2_ENST00000373287.4_Missense_Mutation_p.R484Q|FARP2_ENST00000545004.1_Missense_Mutation_p.R484Q	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	484	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCCTCCAGCCGGAAGAGCCCC	0.602																																						dbGAP											0													90.0	90.0	90.0					2																	242396201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1451G>A	2.37:g.242396201G>A	ENSP00000264042:p.Arg484Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R484Q	ENST00000264042.3	37	c.1451	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	G	6.538	0.467608	0.12402	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.80653	-0.85;-1.39;-1.4	5.18	-10.4	0.00318	.	1.489780	0.03913	N	0.282193	T	0.52885	0.1762	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.43180	-0.9407	10	0.13470	T	0.59	.	5.1583	0.15046	0.6393:0.0664:0.1124:0.1819	.	484;484;484	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	Q	484	ENSP00000264042:R484Q;ENSP00000443876:R484Q;ENSP00000362384:R484Q	ENSP00000264042:R484Q	R	+	2	0	FARP2	242044874	0.000000	0.05858	0.088000	0.20740	0.849000	0.48306	-2.427000	0.01026	-2.265000	0.00688	-1.162000	0.01777	CGG	FARP2	-	NULL	ENSG00000006607		0.602	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	37	0.00	0	G			242396201	242396201	+1	no_errors	ENST00000264042	ensembl	human	known	69_37n	missense	30	17.95	7	SNP	0.000	A
FCGBP	8857	genome.wustl.edu	37	19	40368696	40368696	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:40368696C>T	ENST00000221347.6	-	28	12659	c.12652G>A	c.(12652-12654)Ggt>Agt	p.G4218S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4218	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCATGTTACCGCAGAGCCCG	0.617																																						dbGAP											0													191.0	196.0	194.0					19																	40368696		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12652G>A	19.37:g.40368696C>T	ENSP00000221347:p.Gly4218Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G4218S	ENST00000221347.6	37	c.12652	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499018	0.64298	.	.	ENSG00000090920	ENST00000221347	D	0.90197	-2.63	3.92	3.92	0.45320	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.96713	0.8927	H	0.96239	3.79	0.45733	D	0.99863	D	0.89917	1.0	D	0.97110	1.0	D	0.97953	1.0333	9	0.87932	D	0	.	15.2045	0.73169	0.0:1.0:0.0:0.0	.	4218	Q9Y6R7	FCGBP_HUMAN	S	4218	ENSP00000221347:G4218S	ENSP00000221347:G4218S	G	-	1	0	FCGBP	45060536	1.000000	0.71417	0.990000	0.47175	0.223000	0.24884	7.597000	0.82733	2.201000	0.70794	0.305000	0.20034	GGT	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	296	0.00	0	C	NM_003890		40368696	40368696	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	193	18.26	44	SNP	1.000	T
GIMAP7	168537	genome.wustl.edu	37	7	150217906	150217906	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr7:150217906A>G	ENST00000313543.4	+	2	1001	c.844A>G	c.(844-846)Aag>Gag	p.K282E		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	282					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGGATTTGGAAGATGCTTTC	0.239																																						dbGAP											0													44.0	46.0	45.0					7																	150217906		2203	4276	6479	-	-	-	SO:0001583	missense	0			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.844A>G	7.37:g.150217906A>G	ENSP00000315474:p.Lys282Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AIG1	p.K282E	ENST00000313543.4	37	c.844	CCDS5903.1	7	.	.	.	.	.	.	.	.	.	.	A	3.825	-0.036864	0.07497	.	.	ENSG00000179144	ENST00000313543	T	0.05319	3.46	4.94	1.26	0.21427	.	1.436880	0.04334	N	0.352810	T	0.05823	0.0152	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44544	-0.9321	10	0.12430	T	0.62	.	3.866	0.09016	0.6297:0.1907:0.1795:0.0	.	282	Q8NHV1	GIMA7_HUMAN	E	282	ENSP00000315474:K282E	ENSP00000315474:K282E	K	+	1	0	GIMAP7	149848839	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.064000	0.11636	0.072000	0.16694	0.528000	0.53228	AAG	GIMAP7	-	NULL	ENSG00000179144		0.239	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	26	0.00	0	A	NM_153236		150217906	150217906	+1	no_errors	ENST00000313543	ensembl	human	known	69_37n	missense	60	16.44	12	SNP	0.000	G
GTPBP1	9567	genome.wustl.edu	37	22	39122087	39122088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr22:39122087_39122088insC	ENST00000216044.5	+	7	1383_1384	c.1150_1151insC	c.(1150-1152)tccfs	p.S384fs	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	384	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CAACCTCCTCTCCCCCCGCACC	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1156dupC	22.37:g.39122093_39122093dupC	ENSP00000216044:p.Ser384fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IC67	Frame_Shift_Ins	INS	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.R386fs	ENST00000216044.5	37	c.1150_1151	CCDS13977.2	22																																																																																			GTPBP1	-	NULL	ENSG00000100226		0.569	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	142	0.00	0	-	NM_004286		39122087	39122088	+1	no_errors	ENST00000216044	ensembl	human	known	69_37n	frame_shift_ins	61	10.29	7	INS	1.000:1.000	C
GYLTL1B	120071	genome.wustl.edu	37	11	45948372	45948373	+	Frame_Shift_Ins	INS	-	-	C	rs376236828		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:45948372_45948373insC	ENST00000531526.1	+	10	1386_1387	c.1275_1276insC	c.(1276-1278)cccfs	p.P426fs	GYLTL1B_ENST00000529052.1_Frame_Shift_Ins_p.P395fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Ins_p.P426fs|GYLTL1B_ENST00000389968.3_Frame_Shift_Ins_p.P153fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Ins_p.P395fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Ins_p.P426fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	426					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R428fs*68(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGAACCGCCACCCCCCCGGCC	0.649																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)								6,4258		0,6,2126						-8.6	0.0			47	11,8243		0,11,4116	no	frameshift	GYLTL1B	NM_152312.3		0,17,6242	A1A1,A1R,RR		0.1333,0.1407,0.1358				17,12501				-	-	-	SO:0001589	frameshift_variant	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1282dupC	11.37:g.45948379_45948379dupC	ENSP00000432869:p.Pro426fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Frame_Shift_Ins	INS	pfam_Glyco_trans_8	p.R427fs	ENST00000531526.1	37	c.1275_1276	CCDS31473.1	11																																																																																			GYLTL1B	-	NULL	ENSG00000165905		0.649	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	25	0.00	0	-	NM_152312		45948372	45948373	+1	no_errors	ENST00000325468	ensembl	human	known	69_37n	frame_shift_ins	11	26.67	4	INS	0.002:0.023	C
HABP4	22927	genome.wustl.edu	37	9	99228042	99228042	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr9:99228042G>A	ENST00000375249.4	+	4	800	c.725G>A	c.(724-726)gGa>gAa	p.G242E	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGAACCTGGGGATCGGGTAAA	0.448																																						dbGAP											0													125.0	127.0	126.0					9																	99228042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.725G>A	9.37:g.99228042G>A	ENSP00000364398:p.Gly242Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.G242E	ENST00000375249.4	37	c.725	CCDS6719.1	9	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529421	0.64860	.	.	ENSG00000130956	ENST00000375249	T	0.64260	-0.09	4.41	1.43	0.22495	Hyaluronan/mRNA-binding protein (1);	0.281639	0.32444	N	0.006098	T	0.74989	0.3789	M	0.82823	2.61	0.43195	D	0.995039	P	0.52577	0.954	P	0.60789	0.879	T	0.75459	-0.3310	10	0.66056	D	0.02	-9.3843	10.387	0.44145	0.0:0.2729:0.5857:0.1414	.	242	Q5JVS0	HABP4_HUMAN	E	242	ENSP00000364398:G242E	ENSP00000364398:G242E	G	+	2	0	HABP4	98267863	1.000000	0.71417	0.962000	0.40283	0.872000	0.50106	2.071000	0.41500	0.194000	0.20326	0.650000	0.86243	GGA	HABP4	-	pfam_HABP4_PAIRBP1-bd	ENSG00000130956		0.448	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	816	0.12	1	G	NM_014282		99228042	99228042	+1	no_errors	ENST00000375249	ensembl	human	known	69_37n	missense	476	17.95	105	SNP	0.963	A
HOXC4	3221	genome.wustl.edu	37	12	54448689	54448689	+	Silent	SNP	G	G	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:54448689G>C	ENST00000430889.2	+	2	541	c.495G>C	c.(493-495)cgG>cgC	p.R165R	HOXC4_ENST00000303406.4_Silent_p.R165R|HOXC4_ENST00000609810.1_Silent_p.R165R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	165					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCTATACCCGGCAGCAAGTCC	0.557																																						dbGAP											0													43.0	43.0	43.0					12																	54448689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.495G>C	12.37:g.54448689G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R165	ENST00000430889.2	37	c.495	CCDS8873.1	12																																																																																			HOXC4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia	ENSG00000198353		0.557	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	33	0.00	0	G			54448689	54448689	+1	no_errors	ENST00000303406	ensembl	human	known	69_37n	silent	47	14.04	8	SNP	1.000	C
HSPA8	3312	genome.wustl.edu	37	11	122930605	122930605	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:122930605A>C	ENST00000532636.1	-	5	815	c.696T>G	c.(694-696)gaT>gaG	p.D232E	HSPA8_ENST00000526110.1_Missense_Mutation_p.D213E|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.D232E|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534624.1_Missense_Mutation_p.D232E|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.D232E|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	232	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTTGTCAAAATCTTCTCCAC	0.463																																					Colon(21;486 594 5900 6733 14272)	dbGAP											0													66.0	64.0	64.0					11																	122930605		2202	4299	6501	-	-	-	SO:0001583	missense	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.696T>G	11.37:g.122930605A>C	ENSP00000437125:p.Asp232Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D232E	ENST00000532636.1	37	c.696	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779707	0.49891	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292	T;T;T;T;T;T	0.01203	5.18;5.18;5.18;5.18;5.18;5.18	4.6	-0.907	0.10521	.	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	H	0.99764	4.76	0.58432	D	0.999999	B;B;B;B	0.29136	0.063;0.234;0.196;0.063	B;B;B;B	0.26310	0.046;0.068;0.04;0.046	T	0.08006	-1.0743	10	0.87932	D	0	-20.3621	10.1704	0.42906	0.4494:0.0:0.5506:0.0	.	232;232;232;232	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	E	232;232;232;232;213;172	ENSP00000437125:D232E;ENSP00000432083:D232E;ENSP00000404372:D232E;ENSP00000227378:D232E;ENSP00000433584:D213E;ENSP00000432884:D172E	ENSP00000227378:D232E	D	-	3	2	HSPA8	122435815	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	1.158000	0.31737	-0.430000	0.07318	-0.366000	0.07423	GAT	HSPA8	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000109971		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	80	0.00	0	A			122930605	122930605	-1	no_errors	ENST00000534624	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	0.997	C
HYLS1	219844	genome.wustl.edu	37	11	125769927	125769927	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:125769927G>A	ENST00000425380.2	+	3	1445	c.664G>A	c.(664-666)Gac>Aac	p.D222N	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.D222N|HYLS1_ENST00000356438.3_Missense_Mutation_p.D222N	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	222						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GTACAAACGGGACTGGGACTC	0.517																																					Esophageal Squamous(172;2590 2636 8884 10471)	dbGAP											0													75.0	68.0	71.0					11																	125769927		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.664G>A	11.37:g.125769927G>A	ENSP00000414884:p.Asp222Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXI8|Q96BX9	Missense_Mutation	SNP	NULL	p.D222N	ENST00000425380.2	37	c.664	CCDS8467.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233360	0.79688	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.77098	-1.07;-1.07;-1.07	5.49	5.49	0.81192	.	0.255897	0.33401	N	0.004945	D	0.84138	0.5406	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.84297	0.0503	10	0.62326	D	0.03	.	12.8313	0.57748	0.0738:0.0:0.9262:0.0	.	222	Q96M11	HYLS1_HUMAN	N	222	ENSP00000348815:D222N;ENSP00000414884:D222N;ENSP00000436833:D222N	ENSP00000348815:D222N	D	+	1	0	HYLS1	125275137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.549000	0.60726	2.865000	0.98341	0.655000	0.94253	GAC	HYLS1	-	NULL	ENSG00000198331		0.517	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYLS1	HGNC	protein_coding	OTTHUMT00000386733.1	91	0.00	0	G	NM_145014		125769927	125769927	+1	no_errors	ENST00000356438	ensembl	human	known	69_37n	missense	71	25.00	24	SNP	1.000	A
ITGB4	3691	genome.wustl.edu	37	17	73723581	73723581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr17:73723581delA	ENST00000200181.3	+	4	446	c.259delA	c.(259-261)acafs	p.T87fs	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.T87fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.T87fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.T87fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.T87fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	87					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCCAAATCACAGAGGTGCC	0.662																																						dbGAP											0													18.0	20.0	19.0					17																	73723581		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.259delA	17.37:g.73723581delA	ENSP00000200181:p.Thr87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Del	DEL	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.T87fs	ENST00000200181.3	37	c.259	CCDS11727.1	17																																																																																			ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000132470		0.662	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	44	0.00	0	A			73723581	73723581	+1	no_errors	ENST00000200181	ensembl	human	known	69_37n	frame_shift_del	23	69.88	58	DEL	0.001	-
LRPPRC	10128	genome.wustl.edu	37	2	44174410	44174410	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:44174410G>A	ENST00000260665.7	-	20	2122	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	689					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTGAACAAAGCACTAATATG	0.284																																						dbGAP											0													106.0	99.0	101.0					2																	44174410		2202	4297	6499	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2065C>T	2.37:g.44174410G>A	ENSP00000260665:p.Leu689Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.L689F	ENST00000260665.7	37	c.2065	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757389	0.49468	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.60299	0.2	5.8	4.92	0.64577	.	0.060905	0.64402	D	0.000002	T	0.74442	0.3717	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72982	0.979;0.976	T	0.73636	-0.3920	10	0.26408	T	0.33	-6.6093	15.0996	0.72262	0.0682:0.0:0.9318:0.0	.	589;689	F5H4J6;P42704	.;LPPRC_HUMAN	F	589;689	ENSP00000260665:L689F	ENSP00000260665:L689F	L	-	1	0	LRPPRC	44027914	1.000000	0.71417	0.419000	0.26584	0.454000	0.32378	7.059000	0.76684	1.455000	0.47813	0.650000	0.86243	CTT	LRPPRC	-	NULL	ENSG00000138095		0.284	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	149	0.00	0	G	NM_133259		44174410	44174410	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	213	16.08	41	SNP	0.948	A
MYO10	4651	genome.wustl.edu	37	5	16666900	16666900	+	Silent	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr5:16666900C>T	ENST00000513610.1	-	41	6532	c.6078G>A	c.(6076-6078)gtG>gtA	p.V2026V	MYO10_ENST00000515803.1_Silent_p.V1365V|MYO10_ENST00000427430.2_Silent_p.V1383V|MYO10_ENST00000505695.1_Silent_p.V1365V|MYO10_ENST00000274203.9_Silent_p.V1383V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2026	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCACATCCACCACCTGCCCAG	0.597											OREG0016531	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													36.0	43.0	41.0					5																	16666900		2131	4234	6365	-	-	-	SO:0001819	synonymous_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6078G>A	5.37:g.16666900C>T		Somatic	712	WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.V2026	ENST00000513610.1	37	c.6078	CCDS54834.1	5																																																																																			MYO10	-	pfscan_FERM_domain	ENSG00000145555		0.597	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	71	0.00	0	C	NM_012334		16666900	16666900	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	silent	59	18.92	14	SNP	1.000	T
NAP1L3	4675	genome.wustl.edu	37	X	92927934	92927934	+	Silent	SNP	G	G	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chrX:92927934G>A	ENST00000373079.3	-	1	633	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.L117L|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	124					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTTAAGAACAGGGTATCTACC	0.418																																						dbGAP											0													43.0	40.0	41.0					X																	92927934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.370C>T	X.37:g.92927934G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM0|O60788	Silent	SNP	pfam_NAP_family	p.L124	ENST00000373079.3	37	c.370	CCDS14465.1	X																																																																																			NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.418	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	45	0.00	0	G	NM_004538		92927934	92927934	-1	no_errors	ENST00000373079	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.000	A
NCOR1	9611	genome.wustl.edu	37	17	16024444	16024444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr17:16024444C>A	ENST00000268712.3	-	16	2031	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.E483*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.E592*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	592					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGCAGCTTCGTTTGTCATG	0.602																																						dbGAP											0													63.0	66.0	65.0					17																	16024444		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1774G>T	17.37:g.16024444C>A	ENSP00000268712:p.Glu592*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E592*	ENST00000268712.3	37	c.1774	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.829741	0.98513	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.7	5.7	0.88788	.	0.094505	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.1133	18.8353	0.92159	0.0:1.0:0.0:0.0	.	.	.	.	X	592;592;483;483	.	ENSP00000268712:E592X	E	-	1	0	NCOR1	15965169	1.000000	0.71417	0.988000	0.46212	0.900000	0.52787	5.496000	0.66918	2.688000	0.91661	0.655000	0.94253	GAA	NCOR1	-	NULL	ENSG00000141027		0.602	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	68	0.00	0	C	NM_006311		16024444	16024444	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	nonsense	35	50.00	36	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152394411	152394411	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:152394411C>T	ENST00000172853.10	-	112	16121	c.15974G>A	c.(15973-15975)cGa>cAa	p.R5325Q	NEB_ENST00000604864.1_Missense_Mutation_p.R7026Q|NEB_ENST00000427231.2_Missense_Mutation_p.R7026Q|NEB_ENST00000603639.1_Missense_Mutation_p.R7026Q|NEB_ENST00000409198.1_Missense_Mutation_p.R5325Q|NEB_ENST00000397345.3_Missense_Mutation_p.R7026Q			P20929	NEBU_HUMAN	nebulin	5325					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTGACTGCTCGGTGGTGGAA	0.388																																						dbGAP											0													86.0	89.0	88.0					2																	152394411		1869	4107	5976	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15974G>A	2.37:g.152394411C>T	ENSP00000172853:p.Arg5325Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.R7026Q	ENST00000172853.10	37	c.21077		2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823847	0.71143	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.63	4.76	0.60689	.	0.104145	0.64402	N	0.000007	T	0.64735	0.2625	M	0.62723	1.935	0.80722	D	1	B;D	0.65815	0.42;0.995	B;D	0.70227	0.076;0.968	T	0.66408	-0.5931	10	0.51188	T	0.08	.	14.5446	0.68020	0.0:0.9295:0.0:0.0705	.	5325;1756	P20929;Q14215	NEBU_HUMAN;.	Q	5325;7026;7026;1374;1756;5325;114	ENSP00000386259:R5325Q;ENSP00000380505:R7026Q;ENSP00000416578:R7026Q;ENSP00000410961:R1756Q;ENSP00000172853:R5325Q;ENSP00000405167:R114Q	ENSP00000172853:R5325Q	R	-	2	0	NEB	152102657	0.960000	0.32886	0.999000	0.59377	0.973000	0.67179	1.958000	0.40402	1.384000	0.46424	0.585000	0.79938	CGA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.388	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		199	0.50	1	C	NM_004543		152394411	152394411	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	148	18.28	34	SNP	1.000	T
OGDH	4967	genome.wustl.edu	37	7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr7:44747227_44747228insC	ENST00000222673.5	+	22	2885_2886	c.2843_2844insC	c.(2842-2847)taccccfs	p.YP948fs	OGDH_ENST00000444676.1_Frame_Shift_Ins_p.YP963fs|OGDH_ENST00000439616.2_Frame_Shift_Ins_p.YP798fs|OGDH_ENST00000543843.1_Frame_Shift_Ins_p.YP899fs|OGDH_ENST00000447398.1_Frame_Shift_Ins_p.YP959fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.YP944fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	948					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGCAGAAGTACCCCAATGCTG	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2847dupC	7.37:g.44747231_44747231dupC	ENSP00000222673:p.Tyr948fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Ins	INS	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.N950fs	ENST00000222673.5	37	c.2843_2844	CCDS34627.1	7																																																																																			OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000105953		0.564	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	50	0.00	0	-			44747227	44747228	+1	no_errors	ENST00000222673	ensembl	human	known	69_37n	frame_shift_ins	41	12.77	6	INS	1.000:1.000	C
OR2L13	284521	genome.wustl.edu	37	1	248263384	248263384	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr1:248263384C>G	ENST00000358120.2	+	2	852	c.707C>G	c.(706-708)gCc>gGc	p.A236G	OR2L13_ENST00000366478.2_Missense_Mutation_p.A236G			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGAAAAAAGGCCTTCACCACC	0.453																																						dbGAP											0													143.0	138.0	140.0					1																	248263384		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.707C>G	1.37:g.248263384C>G	ENSP00000350836:p.Ala236Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUR5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A236G	ENST00000358120.2	37	c.707	CCDS1637.1	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338815	0.41398	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00361	7.85;7.85	4.08	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000296	T	0.01156	0.0038	H	0.95079	3.62	0.31315	N	0.686678	D	0.89917	1.0	D	0.87578	0.998	T	0.01617	-1.1311	10	0.87932	D	0	.	10.7745	0.46342	0.0:0.9035:0.0:0.0965	.	236	Q8N349	OR2LD_HUMAN	G	236	ENSP00000355434:A236G;ENSP00000350836:A236G	ENSP00000350836:A236G	A	+	2	0	OR2L13	246330007	0.991000	0.36638	0.753000	0.31225	0.011000	0.07611	3.137000	0.50562	0.901000	0.36495	0.555000	0.69702	GCC	OR2L13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196071		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	198	0.00	0	C	NM_175911		248263384	248263384	+1	no_errors	ENST00000358120	ensembl	human	known	69_37n	missense	287	11.04	36	SNP	1.000	G
OR6A2	8590	genome.wustl.edu	37	11	6816119	6816119	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:6816119T>C	ENST00000332601.3	-	1	1009	c.821A>G	c.(820-822)gAc>gGc	p.D274G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	274					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGTTGGTGTCAAAAGCTGA	0.468																																						dbGAP											0													129.0	121.0	124.0					11																	6816119		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.821A>G	11.37:g.6816119T>C	ENSP00000330384:p.Asp274Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D274G	ENST00000332601.3	37	c.821	CCDS7772.1	11	.	.	.	.	.	.	.	.	.	.	T	13.65	2.300278	0.40694	.	.	ENSG00000184933	ENST00000332601	T	0.00123	8.7	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.314419	0.26948	N	0.021690	T	0.00241	0.0007	L	0.44542	1.39	0.28650	N	0.906685	D	0.56746	0.977	P	0.54544	0.755	T	0.65664	-0.6113	10	0.42905	T	0.14	.	13.0612	0.59008	0.0:0.0:0.0:1.0	.	274	O95222	OR6A2_HUMAN	G	274	ENSP00000330384:D274G	ENSP00000330384:D274G	D	-	2	0	OR6A2	6772695	0.161000	0.22892	1.000000	0.80357	0.415000	0.31203	2.253000	0.43205	2.254000	0.74563	0.533000	0.62120	GAC	OR6A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184933		0.468	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	104	0.00	0	T	NM_003696		6816119	6816119	-1	no_errors	ENST00000332601	ensembl	human	known	69_37n	missense	107	19.55	26	SNP	0.996	C
OR6C76	390326	genome.wustl.edu	37	12	55820958	55820959	+	Frame_Shift_Ins	INS	-	-	A	rs77587450|rs397719965|rs57387180		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:55820958_55820959insA	ENST00000328314.3	+	1	921_922	c.921_922insA	c.(922-924)aaafs	p.K308fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H307Q(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGATTTCCCACAAAAAAAAAAA	0.337																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.933dupA	12.37:g.55820969_55820969dupA	ENSP00000328402:p.Lys308fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K311fs	ENST00000328314.3	37	c.921_922	CCDS31823.1	12																																																																																			OR6C76	-	NULL	ENSG00000185821		0.337	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	12	0.00	0	-	NM_001005183		55820958	55820959	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.003:0.016	A
OR6C76	390326	genome.wustl.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																						dbGAP											0													19.0	20.0	19.0					12																	55820959		2110	4120	6230	-	-	-	SO:0001589	frameshift_variant	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K311fs	ENST00000328314.3	37	c.922	CCDS31823.1	12																																																																																			OR6C76	-	NULL	ENSG00000185821		0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	12	0.00	0	A	NM_001005183		55820959	55820959	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	frame_shift_del	11	33.33	7	DEL	0.016	-
PCDHGA1	56114	genome.wustl.edu	37	5	140711927	140711927	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr5:140711927C>T	ENST00000517417.1	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A559V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.647																																						dbGAP											0													133.0	146.0	142.0					5																	140711927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1676C>T	5.37:g.140711927C>T	ENSP00000431083:p.Ala559Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A559V	ENST00000517417.1	37	c.1676	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	8.366	0.834152	0.16820	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.61510	0.1;0.1	3.92	3.05	0.35203	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.462493	0.17896	N	0.158361	T	0.57607	0.2065	M	0.80508	2.5	0.09310	N	1	B;B	0.24426	0.103;0.049	B;B	0.21708	0.036;0.023	T	0.51553	-0.8691	10	0.34782	T	0.22	.	11.4503	0.50149	0.0:0.9099:0.0:0.0901	.	559;559	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	559	ENSP00000431083:A559V;ENSP00000367345:A559V	ENSP00000367345:A559V	A	+	2	0	PCDHGA1	140692111	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.250000	0.32850	1.001000	0.39076	-0.259000	0.10710	GCG	PCDHGA1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000204956		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	39	0.00	0	C	NM_018912		140711927	140711927	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	missense	51	26.76	19	SNP	0.077	T
PCP2	126006	genome.wustl.edu	37	19	7696695	7696695	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:7696695C>T	ENST00000311069.5	-	4	582		c.e4-1		XAB2_ENST00000534844.1_5'Flank|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.6_ENST00000601797.1_RNA|PCP2_ENST00000598935.1_Splice_Site|CTD-3214H19.4_ENST00000595866.1_Intron|PET100_ENST00000594797.1_3'UTR	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2						rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						GTGCTCCGTCCTGTGGATGAA	0.667																																						dbGAP											0													52.0	49.0	50.0					19																	7696695		2196	4283	6479	-	-	-	SO:0001630	splice_region_variant	0			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.292-1G>A	19.37:g.7696695C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	M0R2R7|Q3KRG7	Splice_Site	SNP	-	e4-1	ENST00000311069.5	37	c.292-1	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581644	0.65992	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0032	0.58687	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCP2	7602695	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.275000	0.58927	2.127000	0.65507	0.561000	0.74099	.	PCP2	-	-	ENSG00000174788		0.667	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	HGNC	protein_coding	OTTHUMT00000461026.2	71	0.00	0	C	XM_058956	Intron	7696695	7696695	-1	no_errors	ENST00000311069	ensembl	human	known	69_37n	splice_site	55	23.61	17	SNP	0.999	T
PIH1D1	55011	genome.wustl.edu	37	19	49949895	49949896	+	Frame_Shift_Ins	INS	-	-	C	rs61746782	byFrequency	TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:49949895_49949896insC	ENST00000262265.5	-	8	978_979	c.743_744insG	c.(742-744)ggcfs	p.G248fs	PIH1D1_ENST00000596049.1_Frame_Shift_Ins_p.G248fs|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	248					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCTGCTGGGGGCCCCCCATCAC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.744dupG	19.37:g.49949901_49949901dupC	ENSP00000262265:p.Gly248fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN7|B4E2X7|Q9BVL0	Frame_Shift_Ins	INS	NULL	p.Q250fs	ENST00000262265.5	37	c.744_743	CCDS12765.1	19																																																																																			PIH1D1	-	NULL	ENSG00000104872		0.614	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	45	0.00	0	-	NM_017916		49949895	49949896	-1	no_errors	ENST00000262265	ensembl	human	known	69_37n	frame_shift_ins	35	10.26	4	INS	0.990:0.994	C
PIK3CA	5290	genome.wustl.edu	37	3	178928219	178928220	+	Splice_Site	INS	-	-	ATA			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:178928219_178928220insATA	ENST00000263967.3	+	9	1562_1563	c.1405_1406insATA	c.(1405-1407)gaa>gATAaa	p.469_469E>DK		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	469	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATCTCTTAGGAAACTCCATGC	0.356		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1405-1->ATA	3.37:g.178928219_178928220insATA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	In_Frame_Ins	INS	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E469in_frame_insDK	ENST00000263967.3	37	c.1405_1406	CCDS43171.1	3																																																																																			PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.356	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	65	0.00	0	-		In_Frame_Ins	178928219	178928220	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	in_frame_ins	94	18.26	21	INS	1.000:1.000	ATA
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	66	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	57	57.64	83	SNP	1.000	G
PLXNA2	5362	genome.wustl.edu	37	1	208391175	208391176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr1:208391175_208391176insG	ENST00000367033.3	-	2	849_850	c.92_93insC	c.(91-93)ccafs	p.P31fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	31					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCGGCTGCTGGGGGGGCCAG	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.93dupC	1.37:g.208391182_208391182dupG	ENSP00000356000:p.Pro31fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A32fs	ENST00000367033.3	37	c.93_92	CCDS31013.1	1																																																																																			PLXNA2	-	pfscan_Semaphorin/CD100_Ag	ENSG00000076356		0.653	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	33	0.00	0	-	NM_025179		208391175	208391176	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	frame_shift_ins	46	13.21	7	INS	0.000:0.000	G
RSF1	51773	genome.wustl.edu	37	11	77412285	77412285	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr11:77412285T>G	ENST00000308488.6	-	6	2291	c.1989A>C	c.(1987-1989)aaA>aaC	p.K663N	RSF1_ENST00000360355.2_Missense_Mutation_p.K632N|RSF1_ENST00000480887.1_Missense_Mutation_p.K411N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	663					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTAGGTCTACTTTTTTCACAG	0.433																																						dbGAP											0													145.0	148.0	147.0					11																	77412285		2199	4292	6491	-	-	-	SO:0001583	missense	0			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1989A>C	11.37:g.77412285T>G	ENSP00000311513:p.Lys663Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K663N	ENST00000308488.6	37	c.1989	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	T	1.850	-0.465359	0.04476	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.88354	-2.26;-2.28;-2.26;-2.37;1.26	5.23	0.21	0.15231	.	0.332025	0.25981	N	0.027078	T	0.71879	0.3392	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57271	-0.7840	10	0.27785	T	0.31	-6.0067	4.0372	0.09735	0.2988:0.371:0.0:0.3302	.	663	Q96T23	RSF1_HUMAN	N	663;411;632;464;662	ENSP00000311513:K663N;ENSP00000434509:K411N;ENSP00000353511:K632N;ENSP00000432022:K464N;ENSP00000436408:K662N	ENSP00000311513:K663N	K	-	3	2	RSF1	77089933	0.005000	0.15991	0.001000	0.08648	0.083000	0.17756	0.180000	0.16860	-0.116000	0.11893	0.533000	0.62120	AAA	RSF1	-	NULL	ENSG00000048649		0.433	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	93	0.00	0	T	NM_016578		77412285	77412285	-1	no_errors	ENST00000308488	ensembl	human	known	69_37n	missense	92	19.30	22	SNP	0.002	G
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)																																								-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	44	0.00	0	T			198266834	198266834	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	47	42.17	35	SNP	1.000	C
SMAD7	4092	genome.wustl.edu	37	18	46474794	46474795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr18:46474794_46474795insG	ENST00000262158.2	-	2	912_913	c.626_627insC	c.(625-627)cctfs	p.P209fs	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Frame_Shift_Ins_p.P209fs	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	209	Important for interaction with SMURF2.|Poly-Pro.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.627dupC	18.37:g.46474802_46474802dupG	ENSP00000262158:p.Pro209fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z773|K7EQ10|O14740|Q6DK23	Frame_Shift_Ins	INS	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.P210fs	ENST00000262158.2	37	c.627_626	CCDS11936.1	18																																																																																			SMAD7	-	superfamily_SMAD_FHA_domain	ENSG00000101665		0.386	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMAD7	HGNC	protein_coding	OTTHUMT00000255906.1	18	0.00	0	-	NM_005904		46474794	46474795	-1	no_errors	ENST00000262158	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	1.000:1.000	G
SPG11	80208	genome.wustl.edu	37	15	44864968	44864968	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr15:44864968G>C	ENST00000261866.7	-	33	6272	c.6256C>G	c.(6256-6258)Ctg>Gtg	p.L2086V	SPG11_ENST00000427534.2_Missense_Mutation_p.L2086V|SPG11_ENST00000535302.2_Missense_Mutation_p.L1973V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2086					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAGTGGTCAGCTGAAGAAAT	0.473																																						dbGAP											0													222.0	161.0	181.0					15																	44864968		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6256C>G	15.37:g.44864968G>C	ENSP00000261866:p.Leu2086Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.L2086V	ENST00000261866.7	37	c.6256	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077395	0.36662	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79454	-1.27;-1.06;-1.02	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.88241	0.2910	10	0.62326	D	0.03	.	17.869	0.88806	0.0:0.0:1.0:0.0	.	2086;1973;2086	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	V	2086;1973;2086	ENSP00000261866:L2086V;ENSP00000445278:L1973V;ENSP00000396110:L2086V	ENSP00000261866:L2086V	L	-	1	2	SPG11	42652260	1.000000	0.71417	0.914000	0.36105	0.969000	0.65631	3.189000	0.50965	2.824000	0.97209	0.655000	0.94253	CTG	SPG11	-	NULL	ENSG00000104133		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	159	0.00	0	G			44864968	44864968	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	missense	125	11.27	16	SNP	1.000	C
TESK2	10420	genome.wustl.edu	37	1	45923438	45923438	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr1:45923438T>C	ENST00000372086.3	-	2	420	c.20A>G	c.(19-21)aAt>aGt	p.N7S	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.N7S|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.N7S|TESK2_ENST00000451835.2_Missense_Mutation_p.N7S	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	7					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGCAATTGAATTCCGTTTGCT	0.413																																						dbGAP											0													117.0	113.0	114.0					1																	45923438		1866	4104	5970	-	-	-	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.20A>G	1.37:g.45923438T>C	ENSP00000361158:p.Asn7Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N7S	ENST00000372086.3	37	c.20	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235559	0.79800	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	T;T;T;T	0.74106	-0.72;-0.81;-0.72;2.14	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000003	T	0.79839	0.4515	L	0.34521	1.04	0.47374	D	0.9994	D;D;D	0.71674	0.993;0.998;0.997	D;D;D	0.80764	0.956;0.994;0.985	T	0.82285	-0.0533	10	0.72032	D	0.01	-19.9293	14.8072	0.69965	0.0:0.0:0.0:1.0	.	7;7;7	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	S	7	ENSP00000361156:N7S;ENSP00000361158:N7S;ENSP00000343940:N7S;ENSP00000397244:N7S	ENSP00000343940:N7S	N	-	2	0	TESK2	45696025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.422000	0.66453	1.916000	0.55485	0.477000	0.44152	AAT	TESK2	-	NULL	ENSG00000070759		0.413	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	298	0.00	0	T	NM_007170		45923438	45923438	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	missense	242	34.77	129	SNP	1.000	C
TGIF2	60436	genome.wustl.edu	37	20	35219587	35219587	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr20:35219587C>T	ENST00000373874.2	+	3	666	c.467C>T	c.(466-468)cCc>cTc	p.P156L	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.P156L|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	156	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCTCCCAAGCCCCTGGTGACC	0.627																																						dbGAP											0													36.0	42.0	40.0					20																	35219587		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.467C>T	20.37:g.35219587C>T	ENSP00000362981:p.Pro156Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P156L	ENST00000373874.2	37	c.467	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676252	0.29783	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.65549	-0.16;-0.16	5.57	4.62	0.57501	.	1.022720	0.07727	N	0.944590	T	0.45816	0.1361	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42882	-0.9425	10	0.52906	T	0.07	-3.0795	7.6523	0.28354	0.0:0.8403:0.0:0.1597	.	156	Q9GZN2	TGIF2_HUMAN	L	156	ENSP00000362981:P156L;ENSP00000362979:P156L	ENSP00000362979:P156L	P	+	2	0	TGIF2	34653001	0.127000	0.22367	0.815000	0.32552	0.560000	0.35617	3.439000	0.52878	2.604000	0.88044	0.561000	0.74099	CCC	TGIF2	-	NULL	ENSG00000118707		0.627	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	45	0.00	0	C	NM_021809		35219587	35219587	+1	no_errors	ENST00000373872	ensembl	human	known	69_37n	missense	40	25.00	14	SNP	0.973	T
TMCC3	57458	genome.wustl.edu	37	12	94965266	94965266	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:94965266C>G	ENST00000261226.4	-	4	1510	c.1379G>C	c.(1378-1380)tGt>tCt	p.C460S	TMCC3_ENST00000551457.1_Missense_Mutation_p.C429S	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	460						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCAGTTTTTACAAAATATAGC	0.433																																						dbGAP											0													120.0	114.0	116.0					12																	94965266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1379G>C	12.37:g.94965266C>G	ENSP00000261226:p.Cys460Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.C460S	ENST00000261226.4	37	c.1379	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581846	0.86748	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.40225	1.04;1.04	5.33	5.33	0.75918	.	0.046659	0.85682	D	0.000000	T	0.53997	0.1831	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.57425	0.82	T	0.54931	-0.8219	10	0.59425	D	0.04	-12.4856	19.0192	0.92906	0.0:1.0:0.0:0.0	.	460	Q9ULS5	TMCC3_HUMAN	S	460;429	ENSP00000261226:C460S;ENSP00000449888:C429S	ENSP00000261226:C460S	C	-	2	0	TMCC3	93489397	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.756000	0.85195	2.495000	0.84180	0.561000	0.74099	TGT	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.433	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	216	0.00	0	C	NM_020698		94965266	94965266	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	201	14.77	35	SNP	1.000	G
TRAK1	22906	genome.wustl.edu	37	3	42229603	42229603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:42229603G>T	ENST00000327628.5	+	5	947	c.547G>T	c.(547-549)Gag>Tag	p.E183*	TRAK1_ENST00000449246.1_Nonsense_Mutation_p.E109*|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Nonsense_Mutation_p.E125*|TRAK1_ENST00000396175.1_Nonsense_Mutation_p.E125*	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	183	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGCGCTGCGGAGGAGAGTGA	0.582																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													158.0	152.0	154.0					3																	42229603		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.547G>T	3.37:g.42229603G>T	ENSP00000328998:p.Glu183*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Nonsense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E125*	ENST00000327628.5	37	c.373	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.364773	0.98238	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	.	.	.	5.54	5.54	0.83059	.	0.057748	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:0.0:1.0:0.0	.	.	.	.	X	183;183;109;125;125	.	ENSP00000328998:E183X	E	+	1	0	TRAK1	42204607	1.000000	0.71417	0.965000	0.40720	0.926000	0.56050	9.798000	0.99111	2.612000	0.88384	0.638000	0.83543	GAG	TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	150	0.00	0	G	NM_014965		42229603	42229603	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	nonsense	56	41.05	39	SNP	1.000	T
UBA2	10054	genome.wustl.edu	37	19	34960012	34960012	+	Silent	SNP	C	C	T	rs545176184		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:34960012C>T	ENST00000246548.4	+	17	1879	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000592791.1_Silent_p.V129V|UBA2_ENST00000439527.2_Silent_p.V507V	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	603					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		18351	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													42.0	41.0	41.0					19																	34960012		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1809C>T	19.37:g.34960012C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.V603	ENST00000246548.4	37	c.1809	CCDS12439.1	19																																																																																			UBA2	-	NULL	ENSG00000126261		0.393	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	84	0.00	0	C	NM_005499		34960012	34960012	+1	no_errors	ENST00000246548	ensembl	human	known	69_37n	silent	78	26.17	28	SNP	0.011	T
UBE3B	89910	genome.wustl.edu	37	12	109959017	109959017	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr12:109959017T>C	ENST00000342494.3	+	20	2736	c.2141T>C	c.(2140-2142)tTt>tCt	p.F714S	UBE3B_ENST00000434735.2_Missense_Mutation_p.F714S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	714	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGTGTGAAGTTTGTCAATGAC	0.522																																						dbGAP											0													135.0	123.0	127.0					12																	109959017		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2141T>C	12.37:g.109959017T>C	ENSP00000340596:p.Phe714Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.F714S	ENST00000342494.3	37	c.2141	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	T	33	5.280169	0.95489	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.59502	0.26;0.26;0.26	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91961	0.5579	10	0.87932	D	0	-11.31	15.56	0.76237	0.0:0.0:0.0:1.0	.	714	Q7Z3V4	UBE3B_HUMAN	S	714;714;714;141;9	ENSP00000391529:F714S;ENSP00000443131:F714S;ENSP00000340596:F714S	ENSP00000340596:F714S	F	+	2	0	UBE3B	108443400	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.651000	0.83577	2.267000	0.75376	0.533000	0.62120	TTT	UBE3B	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.522	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	124	0.00	0	T	NM_183415		109959017	109959017	+1	no_errors	ENST00000342494	ensembl	human	known	69_37n	missense	50	36.71	29	SNP	1.000	C
USH2A	7399	genome.wustl.edu	37	1	215802376	215802376	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr1:215802376C>T	ENST00000307340.3	-	71	15685	c.15299G>A	c.(15298-15300)gGg>gAg	p.G5100E	USH2A_ENST00000366943.2_Splice_Site_p.G5124E|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5100					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCGGCTAACCCCTGAGAAGG	0.478										HNSCC(13;0.011)																												dbGAP											0													81.0	84.0	83.0					1																	215802376		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15298-1G>A	1.37:g.215802376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G5124E	ENST00000307340.3	37	c.15371	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582827	0.86748	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13307	2.6;2.73	5.67	5.67	0.87782	.	0.000000	0.40302	U	0.001121	T	0.37019	0.0988	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01508	-1.1337	10	0.52906	T	0.07	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	5100	O75445	USH2A_HUMAN	E	5100;5124	ENSP00000305941:G5100E;ENSP00000355910:G5124E	ENSP00000305941:G5100E	G	-	2	0	USH2A	213868999	1.000000	0.71417	0.977000	0.42913	0.598000	0.36846	6.966000	0.76073	2.665000	0.90641	0.591000	0.81541	GGG	USH2A	-	NULL	ENSG00000042781		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	99	0.00	0	C	NM_007123	Missense_Mutation	215802376	215802376	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	102	21.37	28	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31595149	31595149	+	Missense_Mutation	SNP	C	C	T	rs61731081		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr2:31595149C>T	ENST00000379416.3	-	17	1849	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	601					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGCTCATTCTCGTAGCGAGGA	0.642																																					Colon(66;682 1445 30109 40147)	dbGAP											0													122.0	126.0	124.0					2																	31595149		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1801G>A	2.37:g.31595149C>T	ENSP00000368727:p.Glu601Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.E601K	ENST00000379416.3	37	c.1801	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488027	0.26686	.	.	ENSG00000158125	ENST00000379416	T	0.11930	2.73	6.04	0.623	0.17654	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.486738	0.24573	N	0.037365	T	0.10121	0.0248	L	0.42744	1.35	0.33876	D	0.635595	B	0.27316	0.175	B	0.27608	0.081	T	0.10590	-1.0623	10	0.42905	T	0.14	.	5.3679	0.16123	0.1137:0.5586:0.2:0.1277	.	601	P47989	XDH_HUMAN	K	601	ENSP00000368727:E601K	ENSP00000368727:E601K	E	-	1	0	XDH	31448653	0.258000	0.24033	0.007000	0.13788	0.033000	0.12548	0.917000	0.28665	0.424000	0.26061	-0.215000	0.12644	GAG	XDH	-	pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.642	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	52	0.00	0	C	NM_000379		31595149	31595149	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	missense	32	17.50	7	SNP	0.397	T
ZBBX	79740	genome.wustl.edu	37	3	167034856	167034856	+	Silent	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr3:167034856C>T	ENST00000392766.2	-	14	1471	c.1131G>A	c.(1129-1131)ttG>ttA	p.L377L	ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000392764.1_Silent_p.L348L|ZBBX_ENST00000392767.2_Silent_p.L377L|ZBBX_ENST00000455345.2_Silent_p.L377L|ZBBX_ENST00000307529.5_Silent_p.L377L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	377						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTTCTACTGGCAATAAAAGAG	0.323																																						dbGAP											0													168.0	156.0	160.0					3																	167034856		1858	4088	5946	-	-	-	SO:0001819	synonymous_variant	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1131G>A	3.37:g.167034856C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.L377	ENST00000392766.2	37	c.1131	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.323	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	133	0.00	0	C	NM_024687		167034856	167034856	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	silent	240	14.23	40	SNP	0.953	T
ZMYND8	23613	genome.wustl.edu	37	20	45867732	45867732	+	Missense_Mutation	SNP	G	G	A	rs376495893		TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr20:45867732G>A	ENST00000311275.7	-	15	2628	c.2375C>T	c.(2374-2376)cCc>cTc	p.P792L	ZMYND8_ENST00000360911.3_Missense_Mutation_p.P787L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P812L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P792L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P792L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P740L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P812L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P812L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P729L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P819L|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P787L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P792L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	792					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTGGCGGCGGGGGCCGGGGC	0.652																																						dbGAP											0													43.0	58.0	53.0					20																	45867732		2199	4294	6493	-	-	-	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2375C>T	20.37:g.45867732G>A	ENSP00000312237:p.Pro792Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.P819L	ENST00000311275.7	37	c.2456		20	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605500	0.46527	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;T;D;D;D;D;T;D;D	0.88975	-1.6;-1.52;-1.49;-1.63;-1.52;-1.52;-2.45;-1.49;-1.66;-1.63	5.71	5.71	0.89125	.	0.866774	0.10216	N	0.701589	D	0.86669	0.5988	L	0.29908	0.895	0.34710	D	0.727694	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24882	0.014;0.031;0.007;0.031;0.005;0.089;0.015;0.011;0.089;0.015;0.113;0.009;0.015;0.02;0.009;0.017	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.03;0.021;0.005;0.021;0.019;0.046;0.046;0.008;0.068;0.046;0.05;0.021;0.031;0.024;0.006;0.044	T	0.82851	-0.0253	10	0.66056	D	0.02	-6.4848	19.8557	0.96758	0.0:0.0:1.0:0.0	.	819;787;787;767;786;812;792;787;812;812;792;729;787;740;740;792	F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	L	787;792;793;813;812;792;819;792;729;812;787;740	ENSP00000354166:P787L;ENSP00000312237:P792L;ENSP00000335537:P812L;ENSP00000379577:P792L;ENSP00000439800:P819L;ENSP00000348246:P792L;ENSP00000396725:P729L;ENSP00000418210:P812L;ENSP00000361093:P787L;ENSP00000443086:P740L	ENSP00000262975:P793L	P	-	2	0	ZMYND8	45301139	0.994000	0.37717	0.968000	0.41197	0.123000	0.20343	7.373000	0.79623	2.688000	0.91661	0.591000	0.81541	CCC	ZMYND8	-	NULL	ENSG00000101040		0.652	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	74	0.00	0	G	NM_183047		45867732	45867732	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	missense	38	26.42	14	SNP	0.830	A
ZNF420	147923	genome.wustl.edu	37	19	37618814	37618814	+	Nonsense_Mutation	SNP	T	T	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:37618814T>G	ENST00000337995.3	+	5	1136	c.921T>G	c.(919-921)taT>taG	p.Y307*	ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y307*|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACCCTATGAATGTAAGG	0.368																																						dbGAP											0													65.0	70.0	68.0					19																	37618814		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.921T>G	19.37:g.37618814T>G	ENSP00000338770:p.Tyr307*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDY6|Q96ML5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y307*	ENST00000337995.3	37	c.921	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595444	0.86953	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.58	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1217	0.42625	0.0:0.0954:0.0:0.9046	.	.	.	.	X	307	.	ENSP00000306102:Y307X	Y	+	3	2	ZNF420	42310654	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	-0.363000	0.07593	0.036000	0.15547	-1.139000	0.01908	TAT	ZNF420	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	75	0.00	0	T	NM_144689		37618814	37618814	+1	no_errors	ENST00000337995	ensembl	human	known	69_37n	nonsense	96	21.14	26	SNP	0.995	G
ZNF609	23060	genome.wustl.edu	37	15	64792134	64792134	+	Silent	SNP	C	C	T	rs561700343	byFrequency	TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr15:64792134C>T	ENST00000326648.3	+	1	644	c.516C>T	c.(514-516)agC>agT	p.S172S	ZNF609_ENST00000416172.1_Silent_p.S172S	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	172						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAGAGAAGCGAAGGAGTGG	0.557													c|||	3	0.000599042	0.0008	0.0	5008	,	,		18899	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													62.0	57.0	59.0					15																	64792134		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.516C>T	15.37:g.64792134C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2I2	Silent	SNP	pfscan_Znf_C2H2	p.S172	ENST00000326648.3	37	c.516	CCDS32270.1	15																																																																																			ZNF609	-	NULL	ENSG00000180357		0.557	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	160	0.00	0	C	XM_042833		64792134	64792134	+1	no_errors	ENST00000326648	ensembl	human	known	69_37n	silent	163	28.38	65	SNP	0.987	T
ZSCAN5A	79149	genome.wustl.edu	37	19	56734011	56734011	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:56734011C>T	ENST00000587340.1	-	6	1383	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E84K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E230K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E230K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E113K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	230					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTTCTCTTCCCTGTTTTCC	0.517																																						dbGAP											0													211.0	182.0	192.0					19																	56734011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.688G>A	19.37:g.56734011C>T	ENSP00000467631:p.Glu230Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E230K	ENST00000587340.1	37	c.688	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	5.844	0.339917	0.11069	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.08102	3.24;3.13	2.27	0.0542	0.14309	.	.	.	.	.	T	0.06600	0.0169	L	0.39020	1.185	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.005	T	0.36335	-0.9752	9	0.52906	T	0.07	.	4.7086	0.12861	0.0:0.6723:0.0:0.3277	.	113;230	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	K	230;113	ENSP00000375593:E230K;ENSP00000254165:E113K	ENSP00000254165:E113K	E	-	1	0	ZSCAN5A	61425823	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.467000	0.06664	0.084000	0.17077	-1.036000	0.02392	GAA	ZSCAN5A	-	NULL	ENSG00000131848		0.517	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	478	0.00	0	C	NM_024303		56734011	56734011	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	332	13.28	51	SNP	0.257	T
ZSCAN5A	79149	genome.wustl.edu	37	19	56735006	56735006	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EV-01A-11W-A050-09	TCGA-A2-A0EV-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9433bf4f-23ba-4fe7-9503-1ad243d74225	633b376d-d59f-4f31-8d1a-0b1d89650a8e	g.chr19:56735006C>G	ENST00000587340.1	-	5	1277	c.582G>C	c.(580-582)agG>agC	p.R194S	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194S|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCACCTGCCTCCTGGACAATG	0.612																																						dbGAP											0													45.0	42.0	43.0					19																	56735006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.582G>C	19.37:g.56735006C>G	ENSP00000467631:p.Arg194Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R194S	ENST00000587340.1	37	c.582	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	9.484	1.099030	0.20552	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.09073	3.19;3.02	2.81	-0.984	0.10259	.	.	.	.	.	T	0.08044	0.0201	M	0.79475	2.455	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27887	0.084;0.058	T	0.21586	-1.0241	9	0.40728	T	0.16	.	4.2733	0.10797	0.0:0.3658:0.3869:0.2474	.	77;194	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	S	194;77	ENSP00000375593:R194S;ENSP00000254165:R77S	ENSP00000254165:R77S	R	-	3	2	ZSCAN5A	61426818	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.281000	0.08456	-0.070000	0.12908	0.655000	0.94253	AGG	ZSCAN5A	-	NULL	ENSG00000131848		0.612	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	85	0.00	0	C	NM_024303		56735006	56735006	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	0.000	G
