#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCD4	5826	genome.wustl.edu	37	14	74758989	74758989	+	Splice_Site	SNP	C	C	T	rs142443294		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr14:74758989C>T	ENST00000356924.4	-	11	1262		c.e11+1		ABCD4_ENST00000298816.7_Splice_Site|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4						cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CCGCTACTCACGTGTCCAAGC	0.602																																						dbGAP											0													87.0	79.0	82.0					14																	74758989		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1118+1G>A	14.37:g.74758989C>T			A8K5L7|Q6IAQ0|Q96E75	Splice_Site	SNP	-	e11+1	ENST00000356924.4	37	c.1118+1	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431329	0.62844	.	.	ENSG00000119688	ENST00000356924;ENST00000298816	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8921	0.88876	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCD4	73828742	0.999000	0.42202	0.984000	0.44739	0.538000	0.34931	4.029000	0.57253	2.717000	0.92951	0.655000	0.94253	.	ABCD4	-	-	ENSG00000119688		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	63	0.00	0	C	NM_005050	Intron	74758989	74758989	-1	no_errors	ENST00000356924	ensembl	human	known	69_37n	splice_site	29	25.64	10	SNP	1.000	T
APOBEC3D	140564	genome.wustl.edu	37	22	39418878	39418878	+	Silent	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr22:39418878C>T	ENST00000216099.8	+	2	476	c.69C>T	c.(67-69)aaC>aaT	p.N23N	APOBEC3D_ENST00000427494.2_Silent_p.N23N|APOBEC3D_ENST00000381568.4_Silent_p.N23N	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	23					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					ACTTTGAAAACGAACCCATCC	0.512																																						dbGAP											0													72.0	82.0	79.0					22																	39418878		2202	4279	6481	-	-	-	SO:0001819	synonymous_variant	0			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.69C>T	22.37:g.39418878C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.N23	ENST00000216099.8	37	c.69	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_N	ENSG00000243811		0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	176	0.00	0	C	NM_152426		39418878	39418878	+1	no_errors	ENST00000216099	ensembl	human	known	69_37n	silent	77	35.83	43	SNP	0.000	T
ATCAY	85300	genome.wustl.edu	37	19	3907867	3907867	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr19:3907867G>A	ENST00000450849.2	+	5	961	c.494G>A	c.(493-495)cGt>cAt	p.R165H	ATCAY_ENST00000398448.3_Missense_Mutation_p.R171H|ATCAY_ENST00000600960.1_Missense_Mutation_p.R165H|ATCAY_ENST00000301260.6_Missense_Mutation_p.R165H	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	165					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CAAGAGCACCGTATAGACCTG	0.677																																						dbGAP											0													51.0	61.0	58.0					19																	3907867		2035	4190	6225	-	-	-	SO:0001583	missense	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.494G>A	19.37:g.3907867G>A	ENSP00000390941:p.Arg165His		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R165H	ENST00000450849.2	37	c.494	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360517	0.82353	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.46819	0.89;0.89;0.86	5.1	5.1	0.69264	.	0.112144	0.64402	D	0.000007	T	0.72590	0.3479	M	0.85630	2.765	0.53688	D	0.999979	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.941	T	0.76487	-0.2941	10	0.52906	T	0.07	0.0053	17.5524	0.87880	0.0:0.0:1.0:0.0	.	171;165	B4DS11;Q86WG3	.;ATCAY_HUMAN	H	165;165;165;171;143	ENSP00000390941:R165H;ENSP00000301260:R165H;ENSP00000381466:R171H	ENSP00000301260:R165H	R	+	2	0	ATCAY	3858867	1.000000	0.71417	0.935000	0.37517	0.284000	0.27059	9.168000	0.94781	2.385000	0.81259	0.650000	0.86243	CGT	ATCAY	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000167654		0.677	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	42	0.00	0	G			3907867	3907867	+1	no_errors	ENST00000301260	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	1.000	A
BSN	8927	genome.wustl.edu	37	3	49689363	49689363	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr3:49689363C>T	ENST00000296452.4	+	5	2488	c.2374C>T	c.(2374-2376)Cgc>Tgc	p.R792C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	792					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGAGTGGAGGCGCCGGAGAGA	0.607																																						dbGAP											0													38.0	46.0	43.0					3																	49689363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2374C>T	3.37:g.49689363C>T	ENSP00000296452:p.Arg792Cys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R792C	ENST00000296452.4	37	c.2374	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	c	2.027	-0.423402	0.04734	.	.	ENSG00000164061	ENST00000296452	T	0.18174	2.23	5.06	3.0	0.34707	.	0.574394	0.17270	N	0.180429	T	0.10252	0.0251	L	0.29908	0.895	0.20196	N	0.999929	P	0.51537	0.946	B	0.37422	0.249	T	0.18053	-1.0349	10	0.59425	D	0.04	.	6.9106	0.24333	0.4328:0.444:0.1232:0.0	.	792	Q9UPA5	BSN_HUMAN	C	792	ENSP00000296452:R792C	ENSP00000296452:R792C	R	+	1	0	BSN	49664367	0.009000	0.17119	0.013000	0.15412	0.019000	0.09904	1.429000	0.34903	1.075000	0.40932	0.556000	0.70494	CGC	BSN	-	NULL	ENSG00000164061		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	53	0.00	0	C	NM_003458		49689363	49689363	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.379	T
CCDC144A	9720	genome.wustl.edu	37	17	16638041	16638041	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr17:16638041A>T	ENST00000360524.8	+	12	2532	c.2456A>T	c.(2455-2457)cAt>cTt	p.H819L	CCDC144A_ENST00000399273.1_Missense_Mutation_p.H819L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H819L|CCDC144A_ENST00000456009.1_Missense_Mutation_p.H539L|CCDC144A_ENST00000443444.2_Missense_Mutation_p.H819L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	819																	GATCTCTTTCATGAAGATTGC	0.328																																						dbGAP											0													20.0	18.0	19.0					17																	16638041		1830	4075	5905	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2456A>T	17.37:g.16638041A>T	ENSP00000353717:p.His819Leu		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.H819L	ENST00000360524.8	37	c.2456	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.849|3.849	-0.032291|-0.032291	0.07543|0.07543	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000360495;ENST00000328495	T;T;T;T|T	0.02395|0.07021	4.32;4.31;4.31;4.31|3.23	2.08|2.08	0.938|0.938	0.19500|0.19500	.|.	.|.	.|.	.|.	.|.	T|T	0.06234|0.06234	0.0161|0.0161	L|L	0.33668|0.33668	1.02|1.02	0.09310|0.09310	N|N	1|1	B;B|.	0.28998|.	0.198;0.23|.	B;B|.	0.40009|.	0.316;0.118|.	T|T	0.40308|0.40308	-0.9570|-0.9570	8|6	.|.	.|.	.|.	.|.	1.8661|1.8661	0.03198|0.03198	0.5508:0.0:0.1762:0.273|0.5508:0.0:0.1762:0.273	.|.	539;819|.	A2RUR9-3;A2RUR9|.	.;C144A_HUMAN|.	L|L	819;819;819;539|715;303	ENSP00000382215:H819L;ENSP00000439262:H819L;ENSP00000353717:H819L;ENSP00000394201:H539L|ENSP00000353685:M715L	.|.	H|M	+|+	2|1	0|0	CCDC144A|CCDC144A	16578766|16578766	0.100000|0.100000	0.21855|0.21855	0.037000|0.037000	0.18230|0.18230	0.025000|0.025000	0.11179|0.11179	0.933000|0.933000	0.28897|0.28897	0.082000|0.082000	0.17018|0.17018	0.324000|0.324000	0.21423|0.21423	CAT|ATG	CCDC144A	-	NULL	ENSG00000170160		0.328	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	57	0.00	0	A			16638041	16638041	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.170	T
CLCN7	1186	genome.wustl.edu	37	16	1497552	1497552	+	Silent	SNP	G	G	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr16:1497552G>T	ENST00000382745.4	-	23	2696	c.2091C>A	c.(2089-2091)tcC>tcA	p.S697S	CCDC154_ENST00000409671.1_5'Flank|CLCN7_ENST00000448525.1_Silent_p.S673S|CLCN7_ENST00000262318.8_Silent_p.S673S|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	697					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGCCCAGGTTGGACCGCTCCA	0.706																																						dbGAP											0													27.0	21.0	23.0					16																	1497552		2136	4222	6358	-	-	-	SO:0001819	synonymous_variant	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2091C>A	16.37:g.1497552G>T			A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.P70Q	ENST00000382745.4	37	c.209	CCDS32361.1	16																																																																																			CLCN7	-	NULL	ENSG00000103249		0.706	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	15	0.00	0	G	NM_001287		1497552	1497552	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565596	ensembl	human	putative	69_37n	missense	9	30.77	4	SNP	0.007	T
COL1A2	1278	genome.wustl.edu	37	7	94041434	94041434	+	Splice_Site	SNP	G	G	A	rs67162110		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr7:94041434G>A	ENST00000297268.6	+	24	1875		c.e24+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGTCCTGTCGTAAGTATTGC	0.353										HNSCC(75;0.22)																												dbGAP											0			GRCh37	CS041527|CS045475	COL1A2	S	rs67162110						87.0	82.0	84.0					7																	94041434		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1404+1G>A	7.37:g.94041434G>A			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	-	e24+1	ENST00000297268.6	37	c.1404+1	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974828	0.34848	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93879370	1.000000	0.71417	0.969000	0.41365	0.031000	0.12232	9.825000	0.99386	2.941000	0.99782	0.655000	0.94253	.	COL1A2	-	-	ENSG00000164692		0.353	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	210	0.00	0	G	NM_000089	Intron	94041434	94041434	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	splice_site	136	13.92	22	SNP	1.000	A
CSTF1	1477	genome.wustl.edu	37	20	54974292	54974292	+	Silent	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr20:54974292C>T	ENST00000217109.4	+	5	1267	c.915C>T	c.(913-915)gaC>gaT	p.D305D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	305					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAGCACATGACGGTGCTGAAG	0.398																																						dbGAP											0													145.0	129.0	134.0					20																	54974292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.915C>T	20.37:g.54974292C>T			Q5QPD8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D305	ENST00000217109.4	37	c.915	CCDS13452.1	20																																																																																			CSTF1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000101138		0.398	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF1	HGNC	protein_coding	OTTHUMT00000079794.2	182	0.55	1	C	NM_001033521		54974292	54974292	+1	no_errors	ENST00000217109	ensembl	human	known	69_37n	silent	134	21.64	37	SNP	0.159	T
DMD	1756	genome.wustl.edu	37	X	31792301	31792301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chrX:31792301G>A	ENST00000357033.4	-	51	7524	c.7318C>T	c.(7318-7320)Cag>Tag	p.Q2440*	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q2436*|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2440					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTAACAGTCTGAGTAGGAGCT	0.373																																						dbGAP											0													49.0	42.0	45.0					X																	31792301		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7318C>T	X.37:g.31792301G>A	ENSP00000354923:p.Gln2440*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q2440*	ENST00000357033.4	37	c.7318	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	16.060650|16.060650	0.99853|0.99853	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	.|.	.|.	.|.	5.28|5.28	4.39|4.39	0.52855|0.52855	.|.	0.217509|.	0.22238|.	U|.	0.062733|.	.|T	.|0.62490	.|0.2432	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59397	.|-0.7462	.|4	0.05833|.	T|.	0.94|.	.|.	11.3136|11.3136	0.49379|0.49379	0.0:0.1333:0.7257:0.1411|0.0:0.1333:0.7257:0.1411	.|.	.|.	.|.	.|.	X|L	2432;1099;1096;136;2436;2440;2440;2317|168	.|.	ENSP00000354923:Q2440X|.	Q|S	-|-	1|2	0|0	DMD|DMD	31702222|31702222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.187000|4.187000	0.58344|0.58344	0.942000|0.942000	0.37525|0.37525	0.594000|0.594000	0.82650|0.82650	CAG|TCA	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	69	0.00	0	G	NM_004006		31792301	31792301	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	nonsense	58	13.43	9	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132213003	132213004	+	In_Frame_Ins	INS	-	-	CTT			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr3:132213003_132213004insCTT	ENST00000260818.6	+	34	4089_4090	c.3841_3842insCTT	c.(3841-3843)gat>gCTTat	p.1281_1281D>AY		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1281					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCTTCTAAAAGATACCCTTGAT	0.322																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	Exception_encountered	3.37:g.132213003_132213004insCTT	ENSP00000260818:p.Asp1281delinsAlaTyr		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	In_Frame_Ins	INS	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.D1281in_frame_insAY	ENST00000260818.6	37	c.3841_3842	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.322	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	90	0.00	0	-	NM_015268		132213003	132213004	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	in_frame_ins	61	31.46	28	INS	1.000:1.000	CTT
ENAH	55740	genome.wustl.edu	37	1	225702347	225702347	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr1:225702347G>A	ENST00000366844.3	-	7	1620	c.1169C>T	c.(1168-1170)aCt>aTt	p.T390I	ENAH_ENST00000284563.6_Missense_Mutation_p.T637I|ENAH_ENST00000366843.2_Missense_Mutation_p.T390I	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	390					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TGCAAGTCCAGTTAAAGGGCG	0.448																																						dbGAP											0													51.0	53.0	52.0					1																	225702347		2201	4293	6494	-	-	-	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1169C>T	1.37:g.225702347G>A	ENSP00000355809:p.Thr390Ile		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.T390I	ENST00000366844.3	37	c.1169	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264122	0.80358	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.78246	-0.1;-0.1;-1.16	5.02	5.02	0.67125	.	0.153967	0.43747	D	0.000533	D	0.87529	0.6200	M	0.69823	2.125	0.46499	D	0.999076	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.968	D	0.89058	0.3460	10	0.87932	D	0	-21.7018	18.3329	0.90276	0.0:0.0:1.0:0.0	.	390;390	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	I	390;390;637;352	ENSP00000355809:T390I;ENSP00000355808:T390I;ENSP00000284563:T637I	ENSP00000284563:T637I	T	-	2	0	ENAH	223768970	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.474000	0.90413	2.327000	0.79052	0.467000	0.42956	ACT	ENAH	-	NULL	ENSG00000154380		0.448	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	35	0.00	0	G	NM_018212		225702347	225702347	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	missense	25	50.00	25	SNP	1.000	A
ERBB2	2064	genome.wustl.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	T	rs121913468		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr17:37880261G>T	ENST00000269571.5	+	19	2464	c.2305G>T	c.(2305-2307)Gac>Tac	p.D769Y	ERBB2_ENST00000541774.1_Missense_Mutation_p.D754Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769Y|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.D739Y			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	2	Substitution - Missense(2)	stomach(1)|lung(1)											95.0	82.0	86.0					17																	37880261		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2305G>T	17.37:g.37880261G>T	ENSP00000269571:p.Asp769Tyr		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D769Y	ENST00000269571.5	37	c.2305	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.121341	0.94385	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88036	0.6329	L	0.41906	1.305	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	0.89478	0.3748	9	0.87932	D	0	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	493;754;769	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Y	739;754;493;769;739	ENSP00000385185:D739Y;ENSP00000446466:D754Y;ENSP00000404047:D493Y;ENSP00000269571:D769Y;ENSP00000443562:D739Y	ENSP00000269571:D769Y	D	+	1	0	ERBB2	35133787	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.869000	0.99810	2.329000	0.79093	0.462000	0.41574	GAC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	151	0.66	1	G			37880261	37880261	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	69	50.71	71	SNP	1.000	T
FAM63A	55793	genome.wustl.edu	37	1	150969810	150969810	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr1:150969810C>T	ENST00000361936.5	-	11	2317	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	FAM63A_ENST00000470877.1_5'Flank|FAM63A_ENST00000312210.5_Missense_Mutation_p.E313K|FAM63A_ENST00000493834.2_Missense_Mutation_p.E360K|FAM63A_ENST00000361738.6_Missense_Mutation_p.E503K	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	455						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCCGACGCTCCCCGGCTGGG	0.562																																						dbGAP											0													29.0	24.0	26.0					1																	150969810		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.1363G>A	1.37:g.150969810C>T	ENSP00000354814:p.Glu455Lys		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.E503K	ENST00000361936.5	37	c.1507	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584989	0.46110	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.44881	0.96;0.93;0.91;0.96	4.91	4.91	0.64330	.	0.458634	0.23470	N	0.047822	T	0.13670	0.0331	L	0.31420	0.93	0.37340	D	0.910331	P;B	0.41848	0.763;0.335	B;B	0.33960	0.173;0.058	T	0.04454	-1.0950	10	0.08599	T	0.76	-26.2706	15.7024	0.77552	0.0:1.0:0.0:0.0	.	503;455	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	K	313;455;503;360	ENSP00000310923:E313K;ENSP00000354814:E455K;ENSP00000354669:E503K;ENSP00000437174:E360K	ENSP00000310923:E313K	E	-	1	0	FAM63A	149236434	0.995000	0.38212	0.777000	0.31699	0.042000	0.13812	4.269000	0.58890	2.588000	0.87417	0.650000	0.86243	GAG	FAM63A	-	NULL	ENSG00000143409		0.562	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	56	0.00	0	C	NM_018379		150969810	150969810	-1	no_errors	ENST00000361738	ensembl	human	known	69_37n	missense	12	82.61	57	SNP	0.966	T
GALC	2581	genome.wustl.edu	37	14	88454828	88454828	+	Missense_Mutation	SNP	G	G	C	rs73312829	byFrequency	TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr14:88454828G>C	ENST00000261304.2	-	2	341	c.235C>G	c.(235-237)Cgt>Ggt	p.R79G	GALC_ENST00000393569.2_Missense_Mutation_p.R53G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Intron|GALC_ENST00000544807.2_Missense_Mutation_p.R23G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	79			R -> H (in GLD). {ECO:0000269|PubMed:8940268}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.R79C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCTGAGAACGATAGGGCTCT	0.318																																						dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	99.0	100.0					14																	88454828		1799	4064	5863	-	-	-	SO:0001583	missense	0			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.235C>G	14.37:g.88454828G>C	ENSP00000261304:p.Arg79Gly		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.R79G	ENST00000261304.2	37	c.235	CCDS9878.2	14	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151564	0.78001	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000445021	D;D;D	0.95001	-3.58;-3.58;-3.58	5.71	5.71	0.89125	Glycoside hydrolase, superfamily (1);	0.052792	0.85682	D	0.000000	D	0.97639	0.9226	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.985;0.996	D	0.98045	1.0384	10	0.72032	D	0.01	-17.0448	13.5842	0.61919	0.0:0.0:0.8444:0.1556	.	23;53;79;79	P54803-5;P54803-4;G3XAI6;P54803	.;.;.;GALC_HUMAN	G	79;23;53;79	ENSP00000261304:R79G;ENSP00000437513:R23G;ENSP00000377199:R53G	ENSP00000261304:R79G	R	-	1	0	GALC	87524581	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.783000	0.75078	2.700000	0.92200	0.650000	0.86243	CGT	GALC	-	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF	ENSG00000054983		0.318	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	HGNC	protein_coding	OTTHUMT00000071559.2	107	0.00	0	G			88454828	88454828	-1	no_errors	ENST00000261304	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	1.000	C
GLUL	2752	genome.wustl.edu	37	1	182355487	182355487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr1:182355487G>A	ENST00000331872.6	-	4	919	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Nonsense_Mutation_p.Q127*|GLUL_ENST00000339526.4_Nonsense_Mutation_p.Q127*|GLUL_ENST00000417584.2_Nonsense_Mutation_p.Q127*	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	127					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CAGGGGTGCTGGTTGCTCACC	0.512																																						dbGAP											0													149.0	149.0	149.0					1																	182355487		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.379C>T	1.37:g.182355487G>A	ENSP00000356537:p.Gln127*		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Nonsense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.Q127*	ENST00000331872.6	37	c.379	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.352146	0.99550	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	.	.	.	5.3	5.3	0.74995	.	0.266464	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.8793	13.2758	0.60186	0.0:0.1595:0.8405:0.0	.	.	.	.	X	127	.	ENSP00000307900:Q127X	Q	-	1	0	GLUL	180622110	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.972000	0.49256	2.454000	0.82982	0.655000	0.94253	CAG	GLUL	-	pfam_Gln_synth_cat_dom	ENSG00000135821		0.512	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	113	0.00	0	G	NM_002065		182355487	182355487	-1	no_errors	ENST00000311223	ensembl	human	known	69_37n	nonsense	131	16.03	25	SNP	1.000	A
HSD17B3	3293	genome.wustl.edu	37	9	99064321	99064321	+	Silent	SNP	C	C	T	rs201302838		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr9:99064321C>T	ENST00000375263.3	-	1	113	c.66G>A	c.(64-66)gcG>gcA	p.A22A	HSD17B3_ENST00000375262.2_Silent_p.A22A	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	22					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				TCACGCACTTCGCCAGGCAGG	0.542																																						dbGAP											0													109.0	98.0	102.0					9																	99064321		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.66G>A	9.37:g.99064321C>T			Q5U0Q6	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A22	ENST00000375263.3	37	c.66	CCDS6716.1	9																																																																																			HSD17B3	-	NULL	ENSG00000130948		0.542	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B3	HGNC	protein_coding	OTTHUMT00000053259.1	136	0.72	1	C	NM_000197		99064321	99064321	-1	no_errors	ENST00000375263	ensembl	human	known	69_37n	silent	54	33.33	27	SNP	0.384	T
KDELC2	143888	genome.wustl.edu	37	11	108361856	108361856	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr11:108361856G>T	ENST00000323468.5	-	2	306	c.241C>A	c.(241-243)Cct>Act	p.P81T	KDELC2_ENST00000434945.2_Missense_Mutation_p.P25T|KDELC2_ENST00000375648.1_Missense_Mutation_p.P25T	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	81						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AACTCTTTAGGTGAAAGAGAT	0.358																																						dbGAP											0													73.0	67.0	69.0					11																	108361856		1854	4088	5942	-	-	-	SO:0001583	missense	0			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.241C>A	11.37:g.108361856G>T	ENSP00000315386:p.Pro81Thr		Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.P81T	ENST00000323468.5	37	c.241	CCDS41711.1	11	.	.	.	.	.	.	.	.	.	.	G	2.812	-0.246653	0.05867	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.21361	2.01;2.32;2.58	5.34	3.46	0.39613	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.438807	0.25708	N	0.028833	T	0.13970	0.0338	L	0.38838	1.175	0.09310	N	0.999998	B;B	0.19200	0.002;0.034	B;B	0.18871	0.012;0.023	T	0.28106	-1.0054	10	0.17369	T	0.5	-11.1443	7.0594	0.25117	0.1515:0.141:0.7074:0.0	.	81;25	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	T	81;25;25	ENSP00000315386:P81T;ENSP00000413429:P25T;ENSP00000364799:P25T	ENSP00000315386:P81T	P	-	1	0	KDELC2	107867066	0.997000	0.39634	0.975000	0.42487	0.325000	0.28411	1.320000	0.33666	0.813000	0.34350	0.655000	0.94253	CCT	KDELC2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000178202		0.358	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	HGNC	protein_coding	OTTHUMT00000390273.1	71	0.00	0	G	NM_153705		108361856	108361856	-1	no_errors	ENST00000323468	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	0.160	T
LHX9	56956	genome.wustl.edu	37	1	197890707	197890707	+	Silent	SNP	C	C	T	rs576950776		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr1:197890707C>T	ENST00000367387.4	+	3	1076	c.651C>T	c.(649-651)aaC>aaT	p.N217N	LHX9_ENST00000367390.3_Silent_p.N208N|LHX9_ENST00000337020.2_Silent_p.N217N|LHX9_ENST00000367391.1_Silent_p.N208N|LHX9_ENST00000561173.1_Silent_p.N223N	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	217					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTTACTTCAACGGTACGGGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		14221	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													28.0	27.0	28.0					1																	197890707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.651C>T	1.37:g.197890707C>T			Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.N217	ENST00000367387.4	37	c.651	CCDS1393.1	1																																																																																			LHX9	-	NULL	ENSG00000143355		0.632	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	35	0.00	0	C	NM_020204		197890707	197890707	+1	no_errors	ENST00000367387	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.547	T
MED13	9969	genome.wustl.edu	37	17	60088032	60088032	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr17:60088032T>A	ENST00000397786.2	-	9	1922	c.1846A>T	c.(1846-1848)Aag>Tag	p.K616*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	616					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTAATACTTCCAGGCTATA	0.403																																						dbGAP											0													118.0	106.0	110.0					17																	60088032		1836	4084	5920	-	-	-	SO:0001587	stop_gained	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1846A>T	17.37:g.60088032T>A	ENSP00000380888:p.Lys616*		B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.K616*	ENST00000397786.2	37	c.1846	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352390	0.61293	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.62	5.62	0.85841	.	0.047096	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9424	15.804	0.78477	0.0:0.0:0.0:1.0	.	.	.	.	X	616;615	.	ENSP00000262436:K615X	K	-	1	0	MED13	57442814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.301000	0.65727	2.131000	0.65755	0.477000	0.44152	AAG	MED13	-	NULL	ENSG00000108510		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	184	0.00	0	T	NM_005121		60088032	60088032	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	nonsense	189	21.81	53	SNP	1.000	A
MELK	9833	genome.wustl.edu	37	9	36594707	36594707	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr9:36594707A>G	ENST00000298048.2	+	5	528	c.344A>G	c.(343-345)cAg>cGg	p.Q115R	MELK_ENST00000545008.1_Intron|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536329.1_Missense_Mutation_p.Q44R|MELK_ENST00000543751.1_Missense_Mutation_p.Q83R|MELK_ENST00000536860.1_Intron|MELK_ENST00000541717.1_Missense_Mutation_p.Q115R|MELK_ENST00000536987.1_Intron|MELK_ENST00000487398.1_3'UTR	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GTCTTCCGTCAGATAGTATCT	0.502																																					Ovarian(82;980 1317 7225 14391 18624)	dbGAP											0													159.0	132.0	142.0					9																	36594707		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.344A>G	9.37:g.36594707A>G	ENSP00000298048:p.Gln115Arg		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q115R	ENST00000298048.2	37	c.344	CCDS6606.1	9	.	.	.	.	.	.	.	.	.	.	A	33	5.230630	0.95207	.	.	ENSG00000165304	ENST00000298048;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;1.0;0.998	T	0.74090	-0.3777	10	0.87932	D	0	-12.3571	16.8061	0.85666	1.0:0.0:0.0:0.0	.	115;44;83;115	F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;MELK_HUMAN	R	115;44;115;83	ENSP00000298048:Q115R;ENSP00000443550:Q44R;ENSP00000437804:Q115R;ENSP00000441596:Q83R	ENSP00000298048:Q115R	Q	+	2	0	MELK	36584707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.596000	0.90844	2.367000	0.80283	0.528000	0.53228	CAG	MELK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000165304		0.502	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	HGNC	protein_coding	OTTHUMT00000052428.3	148	0.00	0	A	NM_014791		36594707	36594707	+1	no_errors	ENST00000298048	ensembl	human	known	69_37n	missense	87	34.59	46	SNP	1.000	G
MPI	4351	genome.wustl.edu	37	15	75190052	75190052	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr15:75190052G>A	ENST00000352410.4	+	8	1320	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	MPI_ENST00000323744.6_Missense_Mutation_p.R357H|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000535694.1_Missense_Mutation_p.R368H|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Missense_Mutation_p.R398H			P34949	MPI_HUMAN	mannose phosphate isomerase	418			R -> H (in CDG1B). {ECO:0000269|PubMed:10980531}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTGATATTCCGTGCCTGCTGT	0.587																																						dbGAP											0			GRCh37	CM002368	MPI	M							144.0	127.0	133.0					15																	75190052		2197	4295	6492	-	-	-	SO:0001583	missense	0				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1253G>A	15.37:g.75190052G>A	ENSP00000318318:p.Arg418His		A8K8K9|Q96AB0	Missense_Mutation	SNP	pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1	p.R418H	ENST00000352410.4	37	c.1253	CCDS10272.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.217719	0.95104	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000323744	D;D;D	0.97161	-4.27;-4.27;-4.27	5.56	5.56	0.83823	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	D	0.99593	1.0976	10	0.72032	D	0.01	.	18.5808	0.91170	0.0:0.0:1.0:0.0	.	357;418	P34949-2;P34949	.;MPI_HUMAN	H	418;368;357	ENSP00000318318:R418H;ENSP00000440447:R368H;ENSP00000318192:R357H	ENSP00000318192:R357H	R	+	2	0	MPI	72977105	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	9.191000	0.94940	2.634000	0.89283	0.306000	0.20318	CGT	MPI	-	superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase	ENSG00000178802		0.587	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPI	HGNC	protein_coding	OTTHUMT00000286418.4	192	0.00	0	G			75190052	75190052	+1	no_errors	ENST00000352410	ensembl	human	known	69_37n	missense	65	37.50	39	SNP	1.000	A
MYH2	4620	genome.wustl.edu	37	17	10432037	10432037	+	Silent	SNP	A	A	G			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr17:10432037A>G	ENST00000245503.5	-	27	4098	c.3714T>C	c.(3712-3714)gcT>gcC	p.A1238A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.A1238A|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1238					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTACATTACTAGCAAGGTCAT	0.448																																						dbGAP											0													134.0	128.0	130.0					17																	10432037		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3714T>C	17.37:g.10432037A>G			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1238	ENST00000245503.5	37	c.3714	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000125414		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	115	0.00	0	A	NM_017534		10432037	10432037	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	silent	70	19.54	17	SNP	0.074	G
NDUFA7	4701	genome.wustl.edu	37	19	8381508	8381508	+	Silent	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr19:8381508G>A	ENST00000301457.2	-	3	160	c.123C>T	c.(121-123)ctC>ctT	p.L41L	NDUFA7_ENST00000598884.1_Silent_p.L41L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	41					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GACCCACAGGGAGCTTGGGAG	0.567																																						dbGAP											0													57.0	66.0	63.0					19																	8381508		1974	4159	6133	-	-	-	SO:0001819	synonymous_variant	0			AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.123C>T	19.37:g.8381508G>A				Silent	SNP	pfam_NADH-UbQ_OxRdtase_B14.5a_su	p.L41	ENST00000301457.2	37	c.123	CCDS42492.1	19																																																																																			NDUFA7	-	pfam_NADH-UbQ_OxRdtase_B14.5a_su	ENSG00000167774		0.567	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	HGNC	protein_coding	OTTHUMT00000461373.1	77	0.00	0	G	NM_005001		8381508	8381508	-1	no_errors	ENST00000301457	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	0.998	A
OR4C13	283092	genome.wustl.edu	37	11	49974275	49974275	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr11:49974275G>A	ENST00000555099.1	+	1	333	c.301G>A	c.(301-303)Gga>Aga	p.G101R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCAAGTCTTTGGAGAACATTT	0.423																																						dbGAP											0													119.0	118.0	119.0					11																	49974275		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.301G>A	11.37:g.49974275G>A	ENSP00000452277:p.Gly101Arg		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G101R	ENST00000555099.1	37	c.301	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	8.726	0.915498	0.17907	.	.	ENSG00000258817	ENST00000555099	T	0.00392	7.58	2.95	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.143282	0.32134	N	0.006537	T	0.00384	0.0012	L	0.46157	1.445	0.19775	N	0.999959	P	0.39831	0.69	P	0.50231	0.635	T	0.48948	-0.8989	9	.	.	.	.	7.9144	0.29810	0.0:0.0:0.4065:0.5935	.	101	Q8NGP0	OR4CD_HUMAN	R	101	ENSP00000452277:G101R	.	G	+	1	0	OR4C13	49930851	0.000000	0.05858	0.448000	0.26945	0.096000	0.18686	-0.716000	0.04991	0.549000	0.28973	0.195000	0.17529	GGA	OR4C13	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258817		0.423	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	HGNC	protein_coding	OTTHUMT00000391103.1	146	0.00	0	G	NM_001001955		49974275	49974275	+1	no_errors	ENST00000555099	ensembl	human	known	69_37n	missense	107	27.21	40	SNP	0.251	A
PI15	51050	genome.wustl.edu	37	8	75761435	75761435	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr8:75761435G>C	ENST00000260113.2	+	6	903	c.724G>C	c.(724-726)Gac>Cac	p.D242H	RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.D242H|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	242						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATCTTGTACTGACAATCTGTG	0.408																																						dbGAP											0													200.0	173.0	182.0					8																	75761435		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.724G>C	8.37:g.75761435G>C	ENSP00000260113:p.Asp242His		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.D242H	ENST00000260113.2	37	c.724	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318860	0.60524	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09163	3.01;3.01	5.15	4.27	0.50696	.	0.149162	0.64402	D	0.000011	T	0.18759	0.0450	M	0.75884	2.315	0.48975	D	0.999739	P	0.43633	0.813	P	0.45167	0.472	T	0.01330	-1.1383	10	0.87932	D	0	.	11.0132	0.47675	0.1499:0.0:0.8501:0.0	.	242	O43692	PI15_HUMAN	H	242	ENSP00000260113:D242H;ENSP00000428567:D242H	ENSP00000260113:D242H	D	+	1	0	PI15	75923990	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.847000	0.48270	1.527000	0.49086	0.585000	0.79938	GAC	PI15	-	NULL	ENSG00000137558		0.408	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1	188	0.00	0	G	NM_015886		75761435	75761435	+1	no_errors	ENST00000260113	ensembl	human	known	69_37n	missense	88	47.93	81	SNP	1.000	C
PLXNA1	5361	genome.wustl.edu	37	3	126736504	126736504	+	Silent	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr3:126736504C>T	ENST00000393409.2	+	17	3513	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	PLXNA1_ENST00000251772.4_Silent_p.L1148L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1171	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTCATCCTCAAGGTGGGTC	0.642																																						dbGAP											0													132.0	138.0	136.0					3																	126736504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3513C>T	3.37:g.126736504C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.L1171	ENST00000393409.2	37	c.3513	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000114554		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	84	0.00	0	C	NM_032242		126736504	126736504	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	silent	21	36.36	12	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		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.C420R(40)		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)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	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"""	40	Substitution - Missense(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)											85.0	80.0	82.0					3																	178927980		1822	4078	5900	-	-	-	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.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg		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.C420R	ENST00000263967.3	37	c.1258	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	114	0.00	0	T			178927980	178927980	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	54	50.91	56	SNP	1.000	C
RBL1	5933	genome.wustl.edu	37	20	35627233	35627233	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr20:35627233C>A	ENST00000373664.3	-	22	3202	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1046					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCTTGACAGACGCGTTTGGCA	0.398																																						dbGAP											0													220.0	178.0	192.0					20																	35627233		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.3136G>T	20.37:g.35627233C>A	ENSP00000362768:p.Val1046Phe		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.V1046F	ENST00000373664.3	37	c.3136	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177479	0.21787	.	.	ENSG00000080839	ENST00000373664	T	0.80653	-1.4	4.94	1.95	0.26073	Rb C-terminal (1);	0.338620	0.28332	N	0.015734	T	0.65749	0.2721	N	0.08118	0	0.80722	D	1	B	0.22146	0.065	B	0.34873	0.191	T	0.58086	-0.7698	10	0.48119	T	0.1	0.0105	10.186	0.42998	0.0:0.1297:0.4957:0.3746	.	1046	P28749	RBL1_HUMAN	F	1046	ENSP00000362768:V1046F	ENSP00000362768:V1046F	V	-	1	0	RBL1	35060647	1.000000	0.71417	0.997000	0.53966	0.158000	0.22134	2.449000	0.44935	0.282000	0.22254	-2.057000	0.00402	GTC	RBL1	-	pfam_Rb_C	ENSG00000080839		0.398	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	343	0.29	1	C	NM_002895		35627233	35627233	-1	no_errors	ENST00000373664	ensembl	human	known	69_37n	missense	250	24.01	79	SNP	0.999	A
SLC2A3	6515	genome.wustl.edu	37	12	8086481	8086481	+	Silent	SNP	T	T	G			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr12:8086481T>G	ENST00000075120.7	-	2	273	c.33A>C	c.(31-33)atA>atC	p.I11I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	11					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGATGGCAAATATCAGAGCTG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0				Colon(96;424 1461 14416 20933 23688)	dbGAP											0													88.0	83.0	85.0					12																	8086481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.33A>C	12.37:g.8086481T>G			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.I11	ENST00000075120.7	37	c.33	CCDS8586.1	12																																																																																			SLC2A3	-	superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_3,tigrfam_Sugar/inositol_transpt	ENSG00000059804		0.443	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1	227	0.00	0	T	NM_006931		8086481	8086481	-1	no_errors	ENST00000075120	ensembl	human	known	69_37n	silent	142	26.42	51	SNP	0.988	G
RNF41	10193	genome.wustl.edu	37	12	56607765	56607765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr12:56607765C>A	ENST00000345093.4	-	3	436	c.67G>T	c.(67-69)Gga>Tga	p.G23*	RNF41_ENST00000394013.2_5'UTR|RNF41_ENST00000552244.1_Nonsense_Mutation_p.G23*|RNF41_ENST00000552656.1_Nonsense_Mutation_p.G23*	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	23					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCCAAGACTCCACTGCAAATA	0.507																																						dbGAP											0													191.0	178.0	183.0					12																	56607765		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.67G>T	12.37:g.56607765C>A	ENSP00000342755:p.Gly23*		A6NFW0|B2RBT8|O75598	Nonsense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.G23*	ENST00000345093.4	37	c.67	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.138506	0.98672	.	.	ENSG00000181852	ENST00000345093;ENST00000448057;ENST00000552656;ENST00000552244;ENST00000549038	.	.	.	5.73	5.73	0.89815	.	0.102129	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.059	0.93080	0.0:1.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000342755:G23X	G	-	1	0	RNF41	54894032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.529000	0.81952	2.882000	0.98803	0.655000	0.94253	GGA	RNF41	-	pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING	ENSG00000181852		0.507	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	189	0.00	0	C	NM_005785		56607765	56607765	-1	no_errors	ENST00000345093	ensembl	human	known	69_37n	nonsense	97	32.64	47	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131371190	131371190	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr9:131371190A>C	ENST00000372731.4	+	35	4639	c.4529A>C	c.(4528-4530)cAg>cCg	p.Q1510P	SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1510P|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1510P	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1510					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTTGCCGACCAGCTCATCGCT	0.577																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													181.0	185.0	184.0					9																	131371190		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4529A>C	9.37:g.131371190A>C	ENSP00000361816:p.Gln1510Pro		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.Q1510P	ENST00000372731.4	37	c.4529	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686210	0.68157	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52295	0.67;0.67;0.67	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.87456	2.885	0.80722	D	1	D;P;P	0.53745	0.962;0.914;0.93	P;D;D	0.66847	0.886;0.912;0.947	T	0.77389	-0.2606	10	0.66056	D	0.02	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	1490;1510;1510	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	P	1510;1510;1510;1490	ENSP00000350882:Q1510P;ENSP00000361816:Q1510P;ENSP00000361824:Q1510P	ENSP00000350882:Q1510P	Q	+	2	0	SPTAN1	130411011	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	CAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.577	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	85	0.00	0	A	NM_003127		131371190	131371190	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	C
TRIM36	55521	genome.wustl.edu	37	5	114482989	114482989	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr5:114482989C>T	ENST00000282369.3	-	3	522	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	TRIM36_ENST00000513154.1_Missense_Mutation_p.R122Q|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000515104.1_5'UTR|TRIM36-IT1_ENST00000503723.1_RNA	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	134					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGTGAAGTTTCGAAACAGACC	0.473																																						dbGAP											0													178.0	163.0	168.0					5																	114482989		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.401G>A	5.37:g.114482989C>T	ENSP00000282369:p.Arg134Gln		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R134Q	ENST00000282369.3	37	c.401	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.462939	0.96257	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87966	-2.32;-2.32;-2.32	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95808	0.8839	10	0.72032	D	0.01	.	19.1469	0.93472	0.0:1.0:0.0:0.0	.	122;134	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	134;122;132	ENSP00000282369:R134Q;ENSP00000423934:R122Q;ENSP00000424743:R132Q	ENSP00000282369:R134Q	R	-	2	0	TRIM36	114510888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.380000	0.79704	2.506000	0.84524	0.591000	0.81541	CGA	TRIM36	-	NULL	ENSG00000152503		0.473	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	173	0.00	0	C	NM_018700		114482989	114482989	-1	no_errors	ENST00000282369	ensembl	human	known	69_37n	missense	127	32.80	62	SNP	1.000	T
WIPI1	55062	genome.wustl.edu	37	17	66424974	66424974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr17:66424974delG	ENST00000262139.5	-	10	1068	c.1069delC	c.(1069-1071)cacfs	p.H357fs	WIPI1_ENST00000546360.1_Frame_Shift_Del_p.H275fs|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	357					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTTCACCTGTGGGTTTTGATT	0.488																																						dbGAP											0													118.0	96.0	104.0					17																	66424974		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1069delC	17.37:g.66424974delG	ENSP00000262139:p.His357fs		Q8IXM5|Q9NWF8	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.H357fs	ENST00000262139.5	37	c.1069	CCDS11677.1	17																																																																																			WIPI1	-	NULL	ENSG00000070540		0.488	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	144	0.00	0	G	NM_017983		66424974	66424974	-1	no_errors	ENST00000262139	ensembl	human	known	69_37n	frame_shift_del	129	27.87	51	DEL	1.000	-
ZNF439	90594	genome.wustl.edu	37	19	11979122	11979122	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1R5-01A-11D-A14K-09	TCGA-E9-A1R5-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a04ba6e9-2bc4-4cab-96d8-0820e0390d84	bda47415-2577-4d09-874a-2a85e999c9cd	g.chr19:11979122A>T	ENST00000304030.2	+	3	1438	c.1238A>T	c.(1237-1239)aAg>aTg	p.K413M	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.K277M	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TATGAGTGTAAGCAATGTGGG	0.443																																						dbGAP											0													67.0	65.0	66.0					19																	11979122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1238A>T	19.37:g.11979122A>T	ENSP00000305077:p.Lys413Met		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K413M	ENST00000304030.2	37	c.1238	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	a	11.28	1.592859	0.28357	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.08193	3.12;3.12	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18841	0.0452	L	0.58428	1.81	0.09310	N	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.09100	-1.0690	9	0.72032	D	0.01	.	4.5082	0.11898	0.6646:0.3354:0.0:0.0	.	413	Q8NDP4	ZN439_HUMAN	M	277;413	ENSP00000395632:K277M;ENSP00000305077:K413M	ENSP00000305077:K413M	K	+	2	0	ZNF439	11840122	0.000000	0.05858	0.158000	0.22627	0.141000	0.21300	-1.766000	0.01797	0.485000	0.27652	0.163000	0.16589	AAG	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.443	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	115	0.86	1	A			11979122	11979122	+1	no_errors	ENST00000304030	ensembl	human	known	69_37n	missense	65	32.99	32	SNP	0.208	T
