#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
ADAMTS15	170689	genome.wustl.edu	37	11	130318913	130318913	+	Silent	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr11:130318913C>T	ENST00000299164.2	+	1	45	c.45C>T	c.(43-45)acC>acT	p.T15T		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	15						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGGGCGAACCGCTGGAGGCT	0.706																																						dbGAP											0													21.0	22.0	22.0					11																	130318913		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.45C>T	11.37:g.130318913C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MI6	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.T15	ENST00000299164.2	37	c.45	CCDS8488.1	11																																																																																			ADAMTS15	-	NULL	ENSG00000166106		0.706	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	35	0.00	0	C	NM_139055		130318913	130318913	+1	no_errors	ENST00000299164	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.251	T
BAI3	577	genome.wustl.edu	37	6	70070787	70070787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr6:70070787C>T	ENST00000370598.1	+	29	4443	c.3622C>T	c.(3622-3624)Cga>Tga	p.R1208*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.R172*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.R414*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1208*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTCCTTGCCGAGCAGCCAC	0.358																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											82.0	85.0	84.0					6																	70070787		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3622C>T	6.37:g.70070787C>T	ENSP00000359630:p.Arg1208*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R1208*	ENST00000370598.1	37	c.3622	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043059	0.93685	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.61	2.59	0.31030	.	0.059612	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4245	0.67204	0.5546:0.4454:0.0:0.0	.	.	.	.	X	1208;414;172	.	ENSP00000238918:R414X	R	+	1	2	BAI3	70127508	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	0.988000	0.29616	0.660000	0.30964	0.591000	0.81541	CGA	BAI3	-	NULL	ENSG00000135298		0.358	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	109	0.00	0	C			70070787	70070787	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	nonsense	64	41.82	46	SNP	1.000	T
C11orf45	219833	genome.wustl.edu	37	11	128772497	128772497	+	Silent	SNP	G	G	T	rs570942009		TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr11:128772497G>T	ENST00000524878.1	-	4	563	c.393C>A	c.(391-393)ggC>ggA	p.G131G	C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Silent_p.G131G|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	131						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TGAGGGGGTAGCCCAGGCGGC	0.612																																						dbGAP											0													66.0	56.0	60.0					11																	128772497		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.393C>A	11.37:g.128772497G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAD0	Silent	SNP	NULL	p.G131	ENST00000524878.1	37	c.393	CCDS8478.1	11																																																																																			C11orf45	-	NULL	ENSG00000174370		0.612	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C11orf45	HGNC	protein_coding	OTTHUMT00000386243.1	61	0.00	0	G	NM_145013		128772497	128772497	-1	no_errors	ENST00000310799	ensembl	human	known	69_37n	silent	62	24.39	20	SNP	0.000	T
MROH9	80133	genome.wustl.edu	37	1	170955837	170955837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:170955837G>T	ENST00000367758.3	+	10	964	c.865G>T	c.(865-867)Gag>Tag	p.E289*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.E289*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	289																	ATTTCATGCCGAGAAGGTCAC	0.408																																						dbGAP											0													145.0	130.0	135.0					1																	170955837		1936	4145	6081	-	-	-	SO:0001587	stop_gained	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.865G>T	1.37:g.170955837G>T	ENSP00000356732:p.Glu289*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E289*	ENST00000367758.3	37	c.865	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462324	0.84425	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.9	-1.24	0.09435	.	1.138890	0.06435	N	0.724824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	0.926	2.7179	0.05192	0.2315:0.2004:0.4539:0.1142	.	.	.	.	X	289	.	ENSP00000356732:E289X	E	+	1	0	C1orf129	169222461	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.019000	0.13444	0.099000	0.17552	-0.171000	0.13296	GAG	C1orf129	-	superfamily_ARM-type_fold	ENSG00000117501		0.408	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	102	0.00	0	G	NM_025063		170955837	170955837	+1	no_errors	ENST00000367759	ensembl	human	known	69_37n	nonsense	329	17.71	71	SNP	0.000	T
CEP350	9857	genome.wustl.edu	37	1	180047624	180047624	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:180047624G>T	ENST00000367607.3	+	29	6212	c.5794G>T	c.(5794-5796)Gta>Tta	p.V1932L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1932					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAATCTCCAGTACCTCTGTA	0.388																																						dbGAP											0													53.0	51.0	52.0					1																	180047624		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5794G>T	1.37:g.180047624G>T	ENSP00000356579:p.Val1932Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.V1932L	ENST00000367607.3	37	c.5794	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.255410|2.255410	0.39896|0.39896	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.50813	.|0.73	5.29|5.29	-10.6|-10.6	0.00265|0.00265	.|.	.|1.608780	.|0.03713	.|N	.|0.250534	T|T	0.22820|0.22820	0.0551|0.0551	N|N	0.22421|0.22421	0.69|0.69	0.21220|0.21220	N|N	0.999755|0.999755	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.09952|0.09952	-1.0651|-1.0651	5|9	.|.	.|.	.|.	.|.	1.2811|1.2811	0.02041|0.02041	0.3536:0.0894:0.1932:0.3638|0.3536:0.0894:0.1932:0.3638	.|.	.|1932;1932	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	I|L	106|1932	.|ENSP00000356579:V1932L	.|.	S|V	+|+	2|1	0|0	CEP350|CEP350	178314247|178314247	0.294000|0.294000	0.24380|0.24380	0.054000|0.054000	0.19295|0.19295	0.925000|0.925000	0.55904|0.55904	-0.763000|-0.763000	0.04740|0.04740	-2.415000|-2.415000	0.00568|0.00568	0.591000|0.591000	0.81541|0.81541	AGT|GTA	CEP350	-	NULL	ENSG00000135837		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	160	0.00	0	G	NM_014810		180047624	180047624	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	144	39.50	94	SNP	0.175	T
DNAJC2	27000	genome.wustl.edu	37	7	102960101	102960102	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr7:102960101_102960102delGA	ENST00000379263.3	-	12	1446_1447	c.1196_1197delTC	c.(1195-1197)ctcfs	p.L399fs	DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	399					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TGCATGATGTGAGTGTTTCATT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1196_1197delTC	7.37:g.102960101_102960102delGA	ENSP00000368565:p.Leu399fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4VCI0|Q9BVX1	Frame_Shift_Del	DEL	pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.L399fs	ENST00000379263.3	37	c.1197_1196	CCDS43628.1	7																																																																																			DNAJC2	-	NULL	ENSG00000105821		0.356	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	223	0.00	0	GA			102960101	102960102	-1	no_errors	ENST00000379263	ensembl	human	known	69_37n	frame_shift_del	153	30.77	68	DEL	0.979:1.000	-
EVI5	7813	genome.wustl.edu	37	1	93163492	93163492	+	Silent	SNP	A	A	G			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:93163492A>G	ENST00000370331.1	-	6	831	c.822T>C	c.(820-822)taT>taC	p.Y274Y	EVI5_ENST00000543509.1_Silent_p.Y274Y|RNU4-59P_ENST00000364447.1_RNA|EVI5_ENST00000540033.1_Silent_p.Y274Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	274	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CACGAAGTCTATAATCTTGCA	0.328																																						dbGAP											0													92.0	94.0	93.0					1																	93163492		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.822T>C	1.37:g.93163492A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y274	ENST00000370331.1	37	c.822	CCDS30774.1	1																																																																																			EVI5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000067208		0.328	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	192	0.00	0	A	NM_005665		93163492	93163492	-1	no_errors	ENST00000543509	ensembl	human	known	69_37n	silent	124	34.39	65	SNP	1.000	G
DUSP27	92235	genome.wustl.edu	37	1	167097767	167097767	+	Silent	SNP	C	C	T	rs537018397	byFrequency	TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:167097767C>T	ENST00000361200.2	+	6	3565	c.3399C>T	c.(3397-3399)gaC>gaT	p.D1133D	DUSP27_ENST00000443333.1_Silent_p.D1133D|DUSP27_ENST00000271385.5_Silent_p.D1133D|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1133					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAAATGGACGATGAAGCCA	0.522													C|||	7	0.00139776	0.0	0.0	5008	,	,		20311	0.0		0.0	False		,,,				2504	0.0072					dbGAP											0													46.0	43.0	44.0					1																	167097767		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3399C>T	1.37:g.167097767C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUM4|Q9C074	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.D1133	ENST00000361200.2	37	c.3399	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.522	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	36	0.00	0	C	NM_001080426		167097767	167097767	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	silent	77	14.44	13	SNP	0.253	T
GATA3	2625	genome.wustl.edu	37	10	8111543	8111544	+	Frame_Shift_Ins	INS	-	-	T	rs104886017		TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr10:8111543_8111544insT	ENST00000346208.3	+	5	1484_1485	c.1029_1030insT	c.(1030-1032)tacfs	p.Y344fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.Y345fs			P23771	GATA3_HUMAN	GATA binding protein 3	344					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCTGTGGGCTCTACTACAAGCT	0.564			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1030dupT	10.37:g.8111544_8111544dupT	ENSP00000341619:p.Tyr344fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.Y344fs	ENST00000346208.3	37	c.1032_1033	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.564	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	118	0.00	0	-	NM_001002295		8111543	8111544	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	91	26.02	32	INS	0.358:1.000	T
GPHA2	170589	genome.wustl.edu	37	11	64702634	64702634	+	Silent	SNP	T	T	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr11:64702634T>A	ENST00000279168.2	-	3	171	c.117A>T	c.(115-117)acA>acT	p.T39T	GPHA2_ENST00000532246.1_Silent_p.T39T|GPHA2_ENST00000533257.1_Silent_p.T39T	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	39						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						CACTTCGCACTGTCACATTGA	0.632																																						dbGAP											0													47.0	38.0	41.0					11																	64702634		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"""glycoprotein alpha 2"", ""cysteine knot protein"""	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.117A>T	11.37:g.64702634T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LE2	Silent	SNP	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	p.T39	ENST00000279168.2	37	c.117	CCDS8086.1	11																																																																																			GPHA2	-	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	ENSG00000149735		0.632	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPHA2	HGNC	protein_coding	OTTHUMT00000385470.1	22	0.00	0	T	NM_130769		64702634	64702634	-1	no_errors	ENST00000279168	ensembl	human	known	69_37n	silent	21	46.34	19	SNP	0.103	A
GRIA2	2891	genome.wustl.edu	37	4	158262491	158262491	+	Silent	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr4:158262491C>T	ENST00000264426.9	+	12	2199	c.1920C>T	c.(1918-1920)aaC>aaT	p.N640N	GRIA2_ENST00000507898.1_Silent_p.N593N|GRIA2_ENST00000296526.7_Silent_p.N640N|GRIA2_ENST00000449365.1_Silent_p.N593N|GRIA2_ENST00000393815.2_Silent_p.N593N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	640					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACACGGCTAACTTAGCTGCCT	0.443																																						dbGAP											0													186.0	180.0	182.0					4																	158262491		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1920C>T	4.37:g.158262491C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT92|I6L997|Q96FP6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N640	ENST00000264426.9	37	c.1920	CCDS43274.1	4																																																																																			GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000120251		0.443	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	187	0.00	0	C			158262491	158262491	+1	no_errors	ENST00000264426	ensembl	human	known	69_37n	silent	152	36.93	89	SNP	1.000	T
IL17B	27190	genome.wustl.edu	37	5	148756510	148756510	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr5:148756510G>A	ENST00000261796.3	-	2	150	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	34					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R34W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAGGCCGCCCTTGCCCC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											43.0	46.0	45.0					5																	148756510		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.100C>T	5.37:g.148756510G>A	ENSP00000261796:p.Arg34Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE5	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.R34W	ENST00000261796.3	37	c.100	CCDS4297.1	5	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051986	0.36181	.	.	ENSG00000127743	ENST00000261796	T	0.61980	0.06	5.24	1.84	0.25277	.	0.245049	0.28398	N	0.015493	T	0.54319	0.1851	L	0.29908	0.895	0.09310	N	1	D	0.60575	0.988	P	0.46339	0.513	T	0.56062	-0.8041	10	0.87932	D	0	-18.0062	15.1978	0.73108	0.0:0.0:0.526:0.474	.	34	Q9UHF5	IL17B_HUMAN	W	34	ENSP00000261796:R34W	ENSP00000261796:R34W	R	-	1	2	IL17B	148736703	0.000000	0.05858	0.542000	0.28115	0.331000	0.28603	0.292000	0.19011	0.646000	0.30693	0.561000	0.74099	CGG	IL17B	-	pfam_Interleukin-17	ENSG00000127743		0.617	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17B	HGNC	protein_coding	OTTHUMT00000252330.1	41	0.00	0	G	NM_014443		148756510	148756510	-1	no_errors	ENST00000261796	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	0.011	A
MAGEC3	139081	genome.wustl.edu	37	X	140985038	140985038	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chrX:140985038C>A	ENST00000298296.1	+	7	1494	c.1494C>A	c.(1492-1494)ttC>ttA	p.F498L	MAGEC3_ENST00000544766.1_Missense_Mutation_p.F200L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.F200L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.F200L|MAGEC3_ENST00000443323.2_Missense_Mutation_p.F120L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	498	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F498F(1)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423																																						dbGAP											2	Substitution - coding silent(2)	prostate(2)											134.0	131.0	132.0					X																	140985038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1494C>A	X.37:g.140985038C>A	ENSP00000298296:p.Phe498Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F498L	ENST00000298296.1	37	c.1494	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	0.247	-1.009157	0.02112	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	1.03	0.0308	0.14168	.	.	.	.	.	T	0.06325	0.0163	N	0.05351	-0.065	0.09310	N	1	P;D	0.54964	0.551;0.969	P;D	0.63793	0.568;0.918	T	0.36212	-0.9757	9	0.23891	T	0.37	.	3.2916	0.06950	0.0:0.6666:0.0:0.3334	.	498;200	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	L	498;200;120;200;200	ENSP00000298296:F498L;ENSP00000441107:F200L;ENSP00000438254:F120L;ENSP00000440444:F200L;ENSP00000386566:F200L	ENSP00000298296:F498L	F	+	3	2	MAGEC3	140812704	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-1.061000	0.03472	-0.069000	0.12931	0.179000	0.17066	TTC	MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.423	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	167	0.00	0	C	NM_138702		140985038	140985038	+1	no_errors	ENST00000298296	ensembl	human	known	69_37n	missense	150	12.28	21	SNP	0.001	A
KMT2C	58508	genome.wustl.edu	37	7	152012381	152012381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr7:152012381delG	ENST00000262189.6	-	4	650	c.432delC	c.(430-432)tccfs	p.S144fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S144fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	144					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTCCTAAGGAACTTTTTT	0.378																																						dbGAP											0													145.0	135.0	138.0					7																	152012381		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.432delC	7.37:g.152012381delG	ENSP00000262189:p.Ser144fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L145fs	ENST00000262189.6	37	c.432	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	243	0.00	0	G			152012381	152012381	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	189	27.78	75	DEL	1.000	-
MYH14	79784	genome.wustl.edu	37	19	50810349	50810349	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr19:50810349C>T	ENST00000596571.1	+	38	5599	c.5599C>T	c.(5599-5601)Cgg>Tgg	p.R1867W	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000440075.2_Missense_Mutation_p.R1908W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1908W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1875W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1900W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1908W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1875W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1867					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGAGAAGCGGCTTAAAGA	0.587																																						dbGAP											0													47.0	54.0	52.0					19																	50810349		1828	3622	5450	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5599C>T	19.37:g.50810349C>T	ENSP00000472819:p.Arg1867Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1908W	ENST00000596571.1	37	c.5722	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147067	0.57151	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	3.87	1.63	0.23807	Myosin tail (1);	.	.	.	.	D	0.86994	0.6067	M	0.75777	2.31	0.39849	D	0.973219	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72625	0.978;0.978;0.963	D	0.86396	0.1739	9	0.87932	D	0	.	9.8094	0.40812	0.5711:0.4289:0.0:0.0	.	1908;1867;1875	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1908;1900;1875;1651;1908	ENSP00000406273:R1908W;ENSP00000366169:R1900W;ENSP00000407879:R1875W;ENSP00000262269:R1908W	ENSP00000262269:R1908W	R	+	1	2	MYH14	55502161	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.310000	0.33551	0.388000	0.25054	0.462000	0.41574	CGG	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	109	0.00	0	C	NM_024729		50810349	50810349	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	112	37.43	67	SNP	1.000	T
NOTCH2	4853	genome.wustl.edu	37	1	120458202	120458202	+	Silent	SNP	G	G	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:120458202G>A	ENST00000256646.2	-	34	7362	c.7143C>T	c.(7141-7143)ggC>ggT	p.G2381G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2381					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGTACTTGCCCACAGAGG	0.587			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													109.0	101.0	104.0					1																	120458202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7143C>T	1.37:g.120458202G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G2381	ENST00000256646.2	37	c.7143	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfam_DUF3454_notch	ENSG00000134250		0.587	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	84	0.00	0	G	NM_024408		120458202	120458202	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	silent	89	39.46	58	SNP	0.943	A
NLRP3	114548	genome.wustl.edu	37	1	247588840	247588840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:247588840C>T	ENST00000336119.3	+	3	2841	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	699					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGGAAGGCCGACACCTTGA	0.532																																						dbGAP											0													131.0	117.0	122.0					1																	247588840		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2095C>T	1.37:g.247588840C>T	ENSP00000337383:p.Arg699*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R699*	ENST00000336119.3	37	c.2095	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.513036	0.99192	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	3.75	1.83	0.25207	.	1.869480	0.02994	N	0.147221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.547	0.12085	0.2178:0.6664:0.0:0.1157	.	.	.	.	X	699	.	ENSP00000337383:R699X	R	+	1	2	NLRP3	245655463	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.268000	0.08607	0.532000	0.28657	0.655000	0.94253	CGA	NLRP3	-	NULL	ENSG00000162711		0.532	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	180	0.00	0	C	NM_004895		247588840	247588840	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	nonsense	428	15.38	78	SNP	0.000	T
PEG10	23089	genome.wustl.edu	37	7	94293642	94293643	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr7:94293642_94293643insT	ENST00000482108.1	+	2	1253_1254	c.774_775insT	c.(775-777)ttgfs	p.L259fs	PEG10_ENST00000488574.1_Frame_Shift_Ins_p.L259fs	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	259	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGCGCTGGTGTTGCCTCACAT	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.776dupT	7.37:g.94293644_94293644dupT	ENSP00000417587:p.Leu259fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A68|Q9UPV1	Frame_Shift_Ins	INS	pfam_Retrotrans_gag,superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.L258fs	ENST00000482108.1	37	c.774_775	CCDS55126.1	7																																																																																			PEG10	-	NULL	ENSG00000242265		0.609	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	8	0.00	0	-	NM_015068		94293642	94293643	+1	no_errors	ENST00000482108	ensembl	human	known	69_37n	frame_shift_ins	14	33.33	7	INS	0.002:0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	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	129	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	65	47.15	58	SNP	1.000	G
PKNOX2	63876	genome.wustl.edu	37	11	125301239	125301239	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr11:125301239C>T	ENST00000298282.9	+	13	1641	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	PKNOX2_ENST00000542175.1_Missense_Mutation_p.T393M|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	457					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAGCTGCAGACGACAAATGTC	0.582																																						dbGAP											0													52.0	59.0	57.0					11																	125301239		2174	4255	6429	-	-	-	SO:0001583	missense	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1370C>T	11.37:g.125301239C>T	ENSP00000298282:p.Thr457Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T457M	ENST00000298282.9	37	c.1370	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991571	0.54041	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.93	4.56	4.56	0.56223	.	0.430763	0.24100	N	0.041559	D	0.83552	0.5279	L	0.29908	0.895	0.40598	D	0.981558	D;D;D	0.76494	0.994;0.999;0.989	P;P;B	0.50754	0.649;0.63;0.446	D	0.85468	0.1171	10	0.49607	T	0.09	-10.1807	17.4841	0.87682	0.0:1.0:0.0:0.0	.	393;428;457	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	M	428;428;457;393	ENSP00000434732:T428M;ENSP00000433971:T428M;ENSP00000298282:T457M;ENSP00000441470:T393M	ENSP00000298282:T457M	T	+	2	0	PKNOX2	124806449	0.995000	0.38212	0.991000	0.47740	0.998000	0.95712	3.266000	0.51569	2.517000	0.84864	0.655000	0.94253	ACG	PKNOX2	-	NULL	ENSG00000165495		0.582	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	29	0.00	0	C			125301239	125301239	+1	no_errors	ENST00000298282	ensembl	human	known	69_37n	missense	51	40.00	34	SNP	1.000	T
POLI	11201	genome.wustl.edu	37	18	51820754	51820754	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr18:51820754T>G	ENST00000579534.1	+	10	2283	c.2140T>G	c.(2140-2142)Tat>Gat	p.Y714D	POLI_ENST00000579434.1_Missense_Mutation_p.Y611D|POLI_ENST00000217800.5_Missense_Mutation_p.Y588D|POLI_ENST00000406285.3_Missense_Mutation_p.Y635D	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	714					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCAAGTTTTCTATGAACTACC	0.393								DNA polymerases (catalytic subunits)																														dbGAP											0													57.0	59.0	58.0					18																	51820754		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.2140T>G	18.37:g.51820754T>G	ENSP00000462664:p.Tyr714Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.Y714D	ENST00000579534.1	37	c.2140	CCDS11954.2	18	.	.	.	.	.	.	.	.	.	.	T	9.940	1.217225	0.22373	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.45668	0.89	5.5	3.13	0.36017	.	0.479381	0.23305	N	0.049625	T	0.53834	0.1821	M	0.68317	2.08	0.32457	N	0.544654	D;D	0.71674	0.998;0.989	D;P	0.63488	0.915;0.768	T	0.60042	-0.7340	10	0.32370	T	0.25	-12.348	7.7724	0.29017	0.0:0.1673:0.0:0.8327	.	634;714	B7Z780;Q9UNA4	.;POLI_HUMAN	D	635;714	ENSP00000385196:Y635D	ENSP00000217800:Y714D	Y	+	1	0	POLI	50074752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.180000	0.50895	0.475000	0.27415	0.528000	0.53228	TAT	POLI	-	NULL	ENSG00000101751		0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3	46	0.00	0	T	NM_007195		51820754	51820754	+1	no_errors	ENST00000579534	ensembl	human	known	69_37n	missense	33	43.10	25	SNP	1.000	G
PTENP1	11191	genome.wustl.edu	37	9	33676517	33676517	+	RNA	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr9:33676517C>T	ENST00000532280.1	-	0	980					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TTCCTGTATACGCCTTCAAGT	0.338																																						dbGAP											0																																										-	-	-			0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676517C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.338	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	272	0.00	0	C	NR_023917		33676517	33676517	-1	no_errors	ENST00000532280	ensembl	human	known	69_37n	rna	185	29.81	79	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29651722	29651722	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr1:29651722G>A	ENST00000345512.3	+	30	4291	c.4162G>A	c.(4162-4164)Ggc>Agc	p.G1388S	PTPRU_ENST00000428026.2_Missense_Mutation_p.G1375S|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1384S|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1382S|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1384S|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1378S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1388	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGGACGCAGCGGCACCTTCTG	0.587																																						dbGAP											0													88.0	81.0	83.0					1																	29651722		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4162G>A	1.37:g.29651722G>A	ENSP00000334941:p.Gly1388Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G1388S	ENST00000345512.3	37	c.4162	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135641	0.77662	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.1	4.1	0.47936	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.67031	0.2850	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.79386	-0.1825	9	.	.	.	.	15.4919	0.75611	0.0:0.0:1.0:0.0	.	1375;1382;1378;1384;1388	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	S	1388;1378;1384;1384;1375;1382	ENSP00000334941:G1388S;ENSP00000362884:G1378S;ENSP00000349333:G1384S;ENSP00000314987:G1384S;ENSP00000392332:G1375S;ENSP00000432906:G1382S	.	G	+	1	0	PTPRU	29524309	1.000000	0.71417	0.990000	0.47175	0.175000	0.22909	9.657000	0.98554	2.097000	0.63578	0.561000	0.74099	GGC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.587	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	49	0.00	0	G			29651722	29651722	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	52	40.23	35	SNP	1.000	A
SLC13A1	6561	genome.wustl.edu	37	7	122768936	122768936	+	Missense_Mutation	SNP	G	G	A	rs200972745		TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr7:122768936G>A	ENST00000194130.2	-	10	1135	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	366					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAAATCCGGGGTCTCGACTA	0.418																																						dbGAP											0													94.0	80.0	84.0					7																	122768936		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1096C>T	7.37:g.122768936G>A	ENSP00000194130:p.Pro366Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.P366S	ENST00000194130.2	37	c.1096	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181775	0.57800	.	.	ENSG00000081800	ENST00000194130	T	0.72167	-0.63	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88800	0.3284	10	0.87932	D	0	-27.0783	19.2443	0.93896	0.0:0.0:1.0:0.0	.	366;366	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	366	ENSP00000194130:P366S	ENSP00000194130:P366S	P	-	1	0	SLC13A1	122556172	1.000000	0.71417	0.340000	0.25575	0.005000	0.04900	8.164000	0.89661	2.797000	0.96272	0.563000	0.77884	CCC	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	106	0.00	0	G	NM_022444		122768936	122768936	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	missense	68	37.84	42	SNP	1.000	A
SLC18A1	6570	genome.wustl.edu	37	8	20005189	20005189	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr8:20005189C>A	ENST00000276373.5	-	14	1521	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	SLC18A1_ENST00000440926.1_Missense_Mutation_p.D419Y|SLC18A1_ENST00000265808.7_Missense_Mutation_p.D387Y|SLC18A1_ENST00000437980.1_Missense_Mutation_p.D419Y|SLC18A1_ENST00000519026.1_Missense_Mutation_p.D387Y|SLC18A1_ENST00000381608.4_Missense_Mutation_p.D419Y	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	419					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TGGCGTAGATCCACCAGGTGC	0.567																																						dbGAP											0													101.0	89.0	93.0					8																	20005189		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1255G>T	8.37:g.20005189C>A	ENSP00000276373:p.Asp419Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.D419Y	ENST00000276373.5	37	c.1255	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599701	0.87055	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.092768	0.64402	D	0.000001	D	0.91280	0.7251	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92961	0.6389	10	0.87932	D	0	-21.1108	17.1367	0.86742	0.0:1.0:0.0:0.0	.	419;387;419	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	Y	387;419;419;419;387;419	ENSP00000265808:D387Y;ENSP00000276373:D419Y;ENSP00000387549:D419Y;ENSP00000413361:D419Y;ENSP00000429664:D387Y;ENSP00000371021:D419Y	ENSP00000265808:D387Y	D	-	1	0	SLC18A1	20049469	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.729000	0.84864	2.374000	0.81015	0.561000	0.74099	GAT	SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.567	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	71	0.00	0	C			20005189	20005189	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	missense	139	19.19	33	SNP	1.000	A
SYBU	55638	genome.wustl.edu	37	8	110588052	110588052	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr8:110588052A>C	ENST00000422135.1	-	8	1590	c.1075T>G	c.(1075-1077)Ttt>Gtt	p.F359V	SYBU_ENST00000419099.1_Missense_Mutation_p.F358V|SYBU_ENST00000399066.3_Missense_Mutation_p.F356V|SYBU_ENST00000533171.1_Missense_Mutation_p.F359V|SYBU_ENST00000408908.2_Missense_Mutation_p.F359V|SYBU_ENST00000533895.1_Missense_Mutation_p.F358V|SYBU_ENST00000446070.2_Missense_Mutation_p.F358V|SYBU_ENST00000529175.1_Missense_Mutation_p.F153V|SYBU_ENST00000528647.1_Missense_Mutation_p.F358V|SYBU_ENST00000408889.3_Missense_Mutation_p.F240V|SYBU_ENST00000533065.1_Missense_Mutation_p.F240V|SYBU_ENST00000529690.1_Missense_Mutation_p.F229V|SYBU_ENST00000532779.1_Missense_Mutation_p.F291V|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000424158.2_Missense_Mutation_p.F364V|SYBU_ENST00000440310.1_Missense_Mutation_p.F359V|SYBU_ENST00000528331.1_Missense_Mutation_p.F240V|SYBU_ENST00000276646.9_Missense_Mutation_p.F359V|SYBU_ENST00000433638.1_Missense_Mutation_p.F359V	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	359	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATGTCCACAAAATATTTCTGA	0.458																																						dbGAP											0													75.0	79.0	78.0					8																	110588052		1934	4150	6084	-	-	-	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1075T>G	8.37:g.110588052A>C	ENSP00000407118:p.Phe359Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.F359V	ENST00000422135.1	37	c.1075	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326500	0.81690	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.996;0.999;0.997;0.997	T	0.82354	-0.0499	9	0.87932	D	0	-21.1211	15.1443	0.72637	1.0:0.0:0.0:0.0	.	229;291;358;359;356	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	V	358;364;291;356;358;240;153;359;358;359;358;359;359;359;240;240;229;359	.	ENSP00000276646:F359V	F	-	1	0	SYBU	110657228	1.000000	0.71417	0.949000	0.38748	0.998000	0.95712	9.248000	0.95456	2.171000	0.68590	0.482000	0.46254	TTT	SYBU	-	NULL	ENSG00000147642		0.458	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	68	0.00	0	A	NM_017786		110588052	110588052	-1	no_errors	ENST00000276646	ensembl	human	known	69_37n	missense	42	60.38	64	SNP	1.000	C
TFIP11	24144	genome.wustl.edu	37	22	26895384	26895384	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D3-01A-11D-A10Y-09	TCGA-A2-A0D3-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8183420e-7f44-4024-b3db-6b53ad293988	e23f0ac2-c466-4431-a23a-94bf6a1f5db6	g.chr22:26895384C>T	ENST00000407690.1	-	9	1298	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TFIP11_ENST00000407148.1_Missense_Mutation_p.D339N|TFIP11_ENST00000405938.1_Missense_Mutation_p.D339N|TFIP11_ENST00000407431.1_Missense_Mutation_p.D339N|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	339					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCTGCCGGTCATTCTGGATG	0.612																																						dbGAP											0													104.0	87.0	93.0					22																	26895384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1015G>A	22.37:g.26895384C>T	ENSP00000384421:p.Asp339Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D339N	ENST00000407690.1	37	c.1015	CCDS13838.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.847740|4.847740	0.91277|0.91277	.|.	.|.	ENSG00000100109|ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938|ENST00000450493	T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79|.	5.57|5.57	4.56|4.56	0.56223|0.56223	.|.	0.049251|.	0.85682|.	D|.	0.000000|.	T|T	0.69296|0.69296	0.3095|0.3095	L|L	0.61218|0.61218	1.895|1.895	0.54753|0.54753	D|D	0.999988|0.999988	B|.	0.33694|.	0.421|.	B|.	0.27500|.	0.08|.	T|T	0.68334|0.68334	-0.5436|-0.5436	10|5	0.20519|.	T|.	0.43|.	-41.3709|-41.3709	13.4522|13.4522	0.61178|0.61178	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	339|.	Q9UBB9|.	TFP11_HUMAN|.	N|I	339|189	ENSP00000384421:D339N;ENSP00000383892:D339N;ENSP00000385861:D339N;ENSP00000384297:D339N|.	ENSP00000384297:D339N|.	D|M	-|-	1|3	0|0	TFIP11|TFIP11	25225384|25225384	1.000000|1.000000	0.71417|0.71417	0.902000|0.902000	0.35471|0.35471	0.989000|0.989000	0.77384|0.77384	6.965000|6.965000	0.76067|0.76067	1.338000|1.338000	0.45544|0.45544	0.655000|0.655000	0.94253|0.94253	GAC|ATG	TFIP11	-	NULL	ENSG00000100109		0.612	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	48	0.00	0	C	NM_001008697		26895384	26895384	-1	no_errors	ENST00000405938	ensembl	human	known	69_37n	missense	69	29.59	29	SNP	0.996	T
