#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
AKAP13	11214	genome.wustl.edu	37	15	86266397	86266397	+	Silent	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr15:86266397G>A	ENST00000394518.2	+	26	6686	c.6591G>A	c.(6589-6591)aaG>aaA	p.K2197K	AKAP13_ENST00000361243.2_Silent_p.K2201K|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000394510.2_Silent_p.K442K|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2197	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTTATGAAAAGAAAGTGCGTC	0.428																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													149.0	130.0	136.0					15																	86266397		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6591G>A	15.37:g.86266397G>A			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.K2201	ENST00000394518.2	37	c.6603	CCDS32319.1	15																																																																																			AKAP13	-	superfamily_DH-domain	ENSG00000170776		0.428	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	31	0.00	0	G	NM_007200		86266397	86266397	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	silent	11	47.62	10	SNP	1.000	A
AMPD3	272	genome.wustl.edu	37	11	10521756	10521756	+	Missense_Mutation	SNP	T	T	C			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr11:10521756T>C	ENST00000396554.3	+	11	2049	c.1708T>C	c.(1708-1710)Tac>Cac	p.Y570H	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Missense_Mutation_p.Y402H	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	561					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTACCTGTACTACATGTATGC	0.542																																						dbGAP											0													330.0	214.0	253.0					11																	10521756		2201	4294	6495	-	-	-	SO:0001583	missense	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1708T>C	11.37:g.10521756T>C	ENSP00000379802:p.Tyr570His		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.Y561H	ENST00000396554.3	37	c.1681	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265353	0.80358	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.83	5.83	0.93111	Adenosine/AMP deaminase (1);	0.099209	0.64402	D	0.000001	D	0.88104	0.6347	L	0.48218	1.51	0.54753	D	0.999986	B;P;B	0.40332	0.141;0.713;0.141	P;P;P	0.60173	0.6;0.87;0.6	D	0.87219	0.2252	10	0.44086	T	0.13	-20.7797	16.1937	0.82011	0.0:0.0:0.0:1.0	.	568;561;570	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	H	402;570;561;568;561	ENSP00000396000:Y402H;ENSP00000379802:Y570H;ENSP00000379801:Y561H;ENSP00000436987:Y568H;ENSP00000431648:Y561H	ENSP00000379801:Y561H	Y	+	1	0	AMPD3	10478332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.933000	0.63484	2.220000	0.72140	0.533000	0.62120	TAC	AMPD3	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000133805		0.542	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	52	0.00	0	T	NM_000480		10521756	10521756	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	missense	46	41.03	32	SNP	1.000	C
ANXA5	308	genome.wustl.edu	37	4	122607522	122607522	+	Silent	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr4:122607522G>A	ENST00000296511.5	-	3	300	c.15C>T	c.(13-15)ctC>ctT	p.L5L	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Silent_p.L5L	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	5					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CAGTGCCTCTGAGAACCTAAT	0.403																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	dbGAP											0													89.0	86.0	87.0					4																	122607522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.15C>T	4.37:g.122607522G>A			D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.L5	ENST00000296511.5	37	c.15	CCDS3720.1	4																																																																																			ANXA5	-	superfamily_Annexin	ENSG00000164111		0.403	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	34	0.00	0	G	NM_001154		122607522	122607522	-1	no_errors	ENST00000296511	ensembl	human	known	69_37n	silent	15	42.31	11	SNP	0.199	A
ARHGAP32	9743	genome.wustl.edu	37	11	128842567	128842567	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr11:128842567C>T	ENST00000310343.9	-	21	3791	c.3792G>A	c.(3790-3792)atG>atA	p.M1264I	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M915I|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M915I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1264					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAGTAGTTGTCATGTAAGTCA	0.512																																						dbGAP											0													121.0	121.0	121.0					11																	128842567		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3792G>A	11.37:g.128842567C>T	ENSP00000310561:p.Met1264Ile		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.M1264I	ENST00000310343.9	37	c.3792	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429402	0.25726	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.07800	3.17;3.16;3.16	5.71	3.85	0.44370	.	0.453514	0.22666	N	0.057125	T	0.09379	0.0231	L	0.54323	1.7	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	10	0.33141	T	0.24	.	10.0347	0.42122	0.0:0.7906:0.1374:0.072	.	1264	A7KAX9	RHG32_HUMAN	I	1264;915;915	ENSP00000310561:M1264I;ENSP00000376425:M915I;ENSP00000432862:M915I	ENSP00000310561:M1264I	M	-	3	0	ARHGAP32	128347777	0.963000	0.33076	0.028000	0.17463	0.363000	0.29612	1.534000	0.36051	0.778000	0.33520	-0.136000	0.14681	ATG	ARHGAP32	-	NULL	ENSG00000134909		0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	34	0.00	0	C	NM_014715		128842567	128842567	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.546	T
BAZ2A	11176	genome.wustl.edu	37	12	56995558	56995558	+	Silent	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr12:56995558C>T	ENST00000551812.1	-	20	4042	c.3849G>A	c.(3847-3849)ttG>ttA	p.L1283L	BAZ2A_ENST00000179765.5_Silent_p.L1251L|BAZ2A_ENST00000549884.1_Silent_p.L1281L|BAZ2A_ENST00000379441.3_Silent_p.L1253L|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1283					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGAGCTGCTCAACAGGGAGC	0.582																																						dbGAP											0													120.0	127.0	125.0					12																	56995558		2051	4208	6259	-	-	-	SO:0001819	synonymous_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3849G>A	12.37:g.56995558C>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1283	ENST00000551812.1	37	c.3849	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.582	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	37	0.00	0	C	NM_013449		56995558	56995558	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	silent	30	43.40	23	SNP	0.989	T
BAZ2A	11176	genome.wustl.edu	37	12	56995588	56995588	+	Silent	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr12:56995588C>T	ENST00000551812.1	-	20	4012	c.3819G>A	c.(3817-3819)ctG>ctA	p.L1273L	BAZ2A_ENST00000179765.5_Silent_p.L1241L|BAZ2A_ENST00000549884.1_Silent_p.L1271L|BAZ2A_ENST00000379441.3_Silent_p.L1243L|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1273	Glu-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAGTCTGGCTCAGCCAAGACA	0.577																																						dbGAP											0													83.0	89.0	87.0					12																	56995588		2035	4196	6231	-	-	-	SO:0001819	synonymous_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3819G>A	12.37:g.56995588C>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1273	ENST00000551812.1	37	c.3819	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.577	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	41	0.00	0	C	NM_013449		56995588	56995588	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	silent	37	35.09	20	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32718729	32718729	+	Silent	SNP	T	T	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr2:32718729T>A	ENST00000421745.2	+	45	8597	c.8463T>A	c.(8461-8463)acT>acA	p.T2821T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2821					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTTTCAACTGAAAGGTAAA	0.299																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													84.0	82.0	83.0					2																	32718729		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8463T>A	2.37:g.32718729T>A			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.T2821	ENST00000421745.2	37	c.8463	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.299	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	96	0.00	0	T	NM_016252		32718729	32718729	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	silent	92	27.56	35	SNP	0.996	A
BTBD19	149478	genome.wustl.edu	37	1	45279094	45279094	+	Missense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:45279094G>A	ENST00000450269.1	+	7	1003	c.664G>A	c.(664-666)Gag>Aag	p.E222K	BTBD19_ENST00000453418.1_3'UTR|BTBD19_ENST00000409335.2_Missense_Mutation_p.E184K	NM_001136537.1	NP_001130009.1	C9JJ37	BTBDJ_HUMAN	BTB (POZ) domain containing 19	222	BACK.									breast(1)|endometrium(1)	2						GGTGGTGAAAGAGCTGAGACT	0.711																																						dbGAP											0													35.0	56.0	49.0					1																	45279094		692	1591	2283	-	-	-	SO:0001583	missense	0					1p34.1	2013-01-08			ENSG00000222009	ENSG00000222009		"""BTB/POZ domain containing"""	27145	protein-coding gene	gene with protein product							Standard	NM_001136537		Approved		uc010ole.1	C9JJ37	OTTHUMG00000008493	ENST00000450269.1:c.664G>A	1.37:g.45279094G>A	ENSP00000395461:p.Glu222Lys		B4E384|B7ZC36|B7ZC37	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E222K	ENST00000450269.1	37	c.664		1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349506	0.82132	.	.	ENSG00000222009	ENST00000450269;ENST00000409335	T;T	0.67345	-0.26;0.99	4.71	4.71	0.59529	BTB/Kelch-associated (2);	.	.	.	.	T	0.45756	0.1358	N	0.02539	-0.55	0.80722	D	1	P	0.43542	0.81	P	0.45946	0.498	T	0.46816	-0.9164	9	0.13853	T	0.58	-17.5801	14.8563	0.70341	0.0:0.0:1.0:0.0	.	222	C9JJ37	BTBDJ_HUMAN	K	222;184	ENSP00000395461:E222K;ENSP00000386506:E184K	ENSP00000386506:E184K	E	+	1	0	BTBD19	45051681	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.210000	0.65214	2.584000	0.87258	0.650000	0.86243	GAG	BTBD19	-	pfam_BACK,smart_BACK	ENSG00000222009		0.711	BTBD19-201	KNOWN	basic|appris_principal	protein_coding	BTBD19	HGNC	protein_coding		14	0.00	0	G	NM_001136537		45279094	45279094	+1	no_errors	ENST00000450269	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.994	A
C1orf192	257177	genome.wustl.edu	37	1	161336022	161336023	+	In_Frame_Ins	INS	-	-	GAT	rs544257853		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:161336022_161336023insGAT	ENST00000367974.1	-	3	141_142	c.136_137insATC	c.(136-138)cgt>cATCgt	p.45_46insH	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	45										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAGATGACCACGATCGTTGGCA	0.446																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.134_136dupATC	1.37:g.161336023_161336025dupGAT	ENSP00000356951:p.Asp45_Arg46insHis			In_Frame_Ins	INS	NULL	p.46in_frame_insH	ENST00000367974.1	37	c.137_136	CCDS30921.1	1																																																																																			C1orf192	-	NULL	ENSG00000188931		0.446	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf192	HGNC	protein_coding	OTTHUMT00000083309.1	67	0.00	0	-	NM_001013625		161336022	161336023	-1	no_errors	ENST00000367974	ensembl	human	known	69_37n	in_frame_ins	35	37.50	21	INS	1.000:0.997	GAT
C5orf45	51149	genome.wustl.edu	37	5	179280201	179280201	+	Intron	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr5:179280201C>T	ENST00000292586.6	-	2	217				C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000403396.2_Missense_Mutation_p.G83E|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45											breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CAGTACCTTTCCAGATTCTGC	0.473																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.126+176G>A	5.37:g.179280201C>T			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	NULL	p.G83E	ENST00000292586.6	37	c.248	CCDS34319.1	5	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184811	0.38609	.	.	ENSG00000161010	ENST00000403396	T	0.21543	2.0	3.16	1.29	0.21616	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	1	P	0.44946	0.846	P	0.45913	0.497	T	0.10823	-1.0613	8	0.87932	D	0	.	9.0963	0.36640	0.0:0.5301:0.4699:0.0	.	83	Q6NTE8-2	.	E	83	ENSP00000384599:G83E	ENSP00000384599:G83E	G	-	2	0	C5orf45	179212807	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.002000	0.13061	0.327000	0.23409	-0.127000	0.14921	GGA	C5orf45	-	NULL	ENSG00000161010		0.473	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	50	0.00	0	C	NM_016175		179280201	179280201	-1	no_errors	ENST00000403396	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.004	T
CATSPER4	378807	genome.wustl.edu	37	1	26528990	26528990	+	Missense_Mutation	SNP	C	C	G			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:26528990C>G	ENST00000456354.2	+	10	1443	c.1376C>G	c.(1375-1377)tCt>tGt	p.S459C		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	459					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCATGACTCTAGCTCACAA	0.557																																						dbGAP											0													42.0	41.0	42.0					1																	26528990		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1376C>G	1.37:g.26528990C>G	ENSP00000390423:p.Ser459Cys		A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.S459C	ENST00000456354.2	37	c.1376	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558616	0.27827	.	.	ENSG00000188782	ENST00000456354	D	0.98012	-4.66	4.42	4.42	0.53409	.	0.320352	0.23036	N	0.052667	D	0.96043	0.8711	L	0.43152	1.355	0.19945	N	0.999945	D	0.57257	0.979	P	0.46975	0.533	D	0.91949	0.5569	10	0.87932	D	0	-6.7842	12.8458	0.57829	0.0:1.0:0.0:0.0	.	459	Q7RTX7	CTSR4_HUMAN	C	459	ENSP00000390423:S459C	ENSP00000390423:S459C	S	+	2	0	CATSPER4	26401577	0.551000	0.26497	0.210000	0.23637	0.028000	0.11728	2.792000	0.47837	2.755000	0.94549	0.555000	0.69702	TCT	CATSPER4	-	NULL	ENSG00000188782		0.557	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	66	0.00	0	C	NM_198137		26528990	26528990	+1	no_errors	ENST00000456354	ensembl	human	known	69_37n	missense	29	57.35	39	SNP	0.251	G
CCDC168	643677	genome.wustl.edu	37	13	103382504	103382504	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr13:103382504C>T	ENST00000322527.2	-	1	6655	c.6656G>A	c.(6655-6657)aGa>aAa	p.R2219K		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	2219																	GGTTTCCTTTCTGCACTCTCT	0.373																																						dbGAP											0													50.0	39.0	42.0					13																	103382504		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.6656G>A	13.37:g.103382504C>T	ENSP00000320232:p.Arg2219Lys		Q8N800	Missense_Mutation	SNP	NULL	p.R2219K	ENST00000322527.2	37	c.6656		13	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787756	0.31593	.	.	ENSG00000175820	ENST00000322527	T	0.03801	3.8	5.25	0.55	0.17219	.	.	.	.	.	T	0.06005	0.0156	L	0.52573	1.65	0.09310	N	1	P	0.40107	0.703	B	0.40101	0.319	T	0.32214	-0.9915	9	0.44086	T	0.13	-1.9848	7.7876	0.29101	0.0:0.579:0.0:0.421	.	2219	Q8NDH2	CC168_HUMAN	K	2219	ENSP00000320232:R2219K	ENSP00000320232:R2219K	R	-	2	0	CCDC168	102180505	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.318000	0.08050	0.058000	0.16222	-0.253000	0.11424	AGA	CCDC168	-	NULL	ENSG00000175820		0.373	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		48	0.00	0	C	NM_001146197		103382504	103382504	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	missense	19	58.70	27	SNP	0.000	T
CCDC92	80212	genome.wustl.edu	37	12	124427988	124427988	+	Missense_Mutation	SNP	G	G	T	rs541227181		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr12:124427988G>T	ENST00000238156.3	-	3	441	c.87C>A	c.(85-87)agC>agA	p.S29R	CCDC92_ENST00000545135.1_Missense_Mutation_p.S12R|CCDC92_ENST00000545891.1_Missense_Mutation_p.S12R|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	29						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCTTCTGTGCGCTGTGCAGCT	0.612																																						dbGAP											0													142.0	126.0	131.0					12																	124427988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.87C>A	12.37:g.124427988G>T	ENSP00000238156:p.Ser29Arg		B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.S29R	ENST00000238156.3	37	c.87	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206427	0.79127	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.77	-3.22	0.05125	.	0.038059	0.85682	D	0.000000	T	0.67942	0.2947	M	0.85542	2.76	0.49798	D	0.999827	D	0.89917	1.0	D	0.91635	0.999	T	0.73572	-0.3940	10	0.66056	D	0.02	-0.4839	16.2397	0.82401	0.7452:0.0:0.2548:0.0	.	29	Q53HC0	CCD92_HUMAN	R	29;12;12;29;12;29	ENSP00000238156:S29R;ENSP00000439526:S12R;ENSP00000440024:S12R;ENSP00000439441:S29R;ENSP00000438281:S12R;ENSP00000442369:S29R	ENSP00000238156:S29R	S	-	3	2	CCDC92	122993941	0.000000	0.05858	0.818000	0.32626	0.976000	0.68499	-2.568000	0.00915	-0.615000	0.05679	-0.367000	0.07326	AGC	CCDC92	-	NULL	ENSG00000119242		0.612	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	76	0.00	0	G	NM_025140		124427988	124427988	-1	no_errors	ENST00000238156	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	0.582	T
CDH1	999	genome.wustl.edu	37	16	68845757	68845757	+	Nonsense_Mutation	SNP	C	C	T	rs587780784		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr16:68845757C>T	ENST00000261769.5	+	7	1194	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.R335*|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	335	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.R335*(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGGGCTGGACCGAGAGGTCAG	0.507			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Substitution - Nonsense(1)|Unknown(1)	large_intestine(1)|breast(1)	GRCh37	CM022775	CDH1	M							75.0	71.0	72.0					16																	68845757		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1003C>T	16.37:g.68845757C>T	ENSP00000261769:p.Arg335*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R335*	ENST00000261769.5	37	c.1003	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.218011	0.97385	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.47	3.22	0.36961	.	0.000000	0.44688	D	0.000437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3929	0.60834	0.4318:0.5681:0.0:0.0	.	.	.	.	X	335	.	ENSP00000261769:R335X	R	+	1	2	CDH1	67403258	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.320000	0.33666	1.416000	0.47057	0.561000	0.74099	CGA	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.507	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	45	0.00	0	C	NM_004360		68845757	68845757	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	22	46.34	19	SNP	1.000	T
CHRNA6	8973	genome.wustl.edu	37	8	42623707	42623707	+	5'UTR	SNP	C	C	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr8:42623707C>A	ENST00000276410.2	-	0	222				CHRNA6_ENST00000534622.1_5'UTR|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TCTCAGAAATCAAAACATCCC	0.453																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.-134G>T	8.37:g.42623707C>A			B2R8V4|B4DQH1	RNA	SNP	-	NULL	ENST00000276410.2	37	NULL	CCDS6135.1	8																																																																																			CHRNA6	-	-	ENSG00000147434		0.453	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	18	0.00	0	C			42623707	42623707	-1	no_errors	ENST00000530869	ensembl	human	known	69_37n	rna	7	53.33	8	SNP	0.014	A
CSRP1	1465	genome.wustl.edu	37	1	201455910	201455910	+	Intron	SNP	C	C	T	rs3767541	byFrequency	TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:201455910C>T	ENST00000367306.1	-	6	775				CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000533432.1_Intron|CSRP1_ENST00000532460.1_Intron|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000340006.2_Intron|CSRP1_ENST00000526723.1_Intron			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1						platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						GGGCTTCTCCCTACCTTTTCC	0.413													C|||	1492	0.297923	0.0817	0.3689	5008	,	,		18295	0.1567		0.6123	False		,,,				2504	0.362					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.412-1406G>A	1.37:g.201455910C>T			A8K268|Q5U0J2	RNA	SNP	-	NULL	ENST00000367306.1	37	NULL	CCDS1413.1	1																																																																																			CSRP1	-	-	ENSG00000159176		0.413	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP1	HGNC	protein_coding	OTTHUMT00000087027.1	8	0.00	0	C	NM_004078		201455910	201455910	-1	no_errors	ENST00000458271	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	0.000	T
CTAGE5	4253	genome.wustl.edu	37	14	39760281	39760281	+	Missense_Mutation	SNP	C	C	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr14:39760281C>A	ENST00000280083.3	+	5	679	c.365C>A	c.(364-366)aCa>aAa	p.T122K	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T93K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.T93K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T42K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.T93K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T122K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T42K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T122K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T110K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T122K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.T657K			O15320	CTGE5_HUMAN	CTAGE family, member 5	122					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAGGAGGCAACAGAAGCACAA	0.328																																						dbGAP											0													125.0	137.0	133.0					14																	39760281		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.365C>A	14.37:g.39760281C>A	ENSP00000280083:p.Thr122Lys		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.T122K	ENST00000280083.3	37	c.365	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290634	0.59976	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000554392;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.75050	2.37;-0.9;2.37;-0.9;-0.9;-0.74;-0.9;-0.74;-0.9;-0.9	5.22	2.3	0.28687	.	0.000000	0.35739	N	0.003012	T	0.69958	0.3169	L	0.52364	1.645	0.25222	N	0.989897	P;B;B;B	0.34462	0.454;0.404;0.27;0.27	B;B;B;B	0.44224	0.444;0.222;0.444;0.36	T	0.59332	-0.7474	9	.	.	.	.	6.1127	0.20110	0.3322:0.5794:0.0:0.0885	.	122;122;122;110	O15320-5;O15320-2;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	K	657;110;110;42;93;122;122;122;42;122;93	ENSP00000452252:T657K;ENSP00000343897:T110K;ENSP00000450869:T42K;ENSP00000379468:T93K;ENSP00000339286:T122K;ENSP00000379462:T122K;ENSP00000280083:T122K;ENSP00000452562:T42K;ENSP00000343912:T122K;ENSP00000450449:T93K	.	T	+	2	0	CTAGE5;RP11-407N17.3	38830032	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.903000	0.39858	0.261000	0.21753	0.655000	0.94253	ACA	CTAGE5	-	NULL	ENSG00000150527		0.328	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	57	0.00	0	C	NM_005930		39760281	39760281	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	missense	46	30.30	20	SNP	1.000	A
DENND2A	27147	genome.wustl.edu	37	7	140246714	140246714	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr7:140246714C>T	ENST00000275884.6	-	12	2480	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	DENND2A_ENST00000537639.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000492720.1_Missense_Mutation_p.R688Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	688	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R688Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGAGATGCCTCGTCTTTTTTC	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)											68.0	71.0	70.0					7																	140246714		1975	4173	6148	-	-	-	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2063G>A	7.37:g.140246714C>T	ENSP00000275884:p.Arg688Gln		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R688Q	ENST00000275884.6	37	c.2063	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.649767	0.96714	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	DENN (3);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.76938	2.355	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.989	T	0.29150	-1.0021	10	0.72032	D	0.01	-10.5512	19.6692	0.95905	0.0:1.0:0.0:0.0	.	688;688	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	Q	688;688;688;35;688	ENSP00000275884:R688Q;ENSP00000442245:R688Q;ENSP00000419654:R688Q;ENSP00000420145:R35Q;ENSP00000419464:R688Q	ENSP00000275884:R688Q	R	-	2	0	DENND2A	139893183	1.000000	0.71417	0.254000	0.24359	0.995000	0.86356	7.654000	0.83653	2.664000	0.90586	0.561000	0.74099	CGA	DENND2A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000146966		0.517	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	67	0.00	0	C	NM_015689		140246714	140246714	-1	no_errors	ENST00000275884	ensembl	human	known	69_37n	missense	56	31.71	26	SNP	0.998	T
DUOX2	50506	genome.wustl.edu	37	15	45398769	45398769	+	Silent	SNP	G	G	C			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr15:45398769G>C	ENST00000603300.1	-	16	2104	c.1902C>G	c.(1900-1902)ctC>ctG	p.L634L	DUOX2_ENST00000389039.6_Silent_p.L634L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	634					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCTCTCTTTGAGTTTCTTTT	0.557																																						dbGAP											0													202.0	192.0	195.0					15																	45398769		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1902C>G	15.37:g.45398769G>C			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.L634	ENST00000603300.1	37	c.1902	CCDS10117.1	15																																																																																			DUOX2	-	NULL	ENSG00000140279		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		67	0.00	0	G	NM_014080		45398769	45398769	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	silent	18	59.09	26	SNP	0.973	C
ERC2	26059	genome.wustl.edu	37	3	56468948	56468948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr3:56468948G>A	ENST00000288221.6	-	2	343	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	30						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTGTTCTTCGGTGGCCCAAA	0.493																																						dbGAP											0													105.0	101.0	102.0					3																	56468948		1932	4143	6075	-	-	-	SO:0001587	stop_gained	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.88C>T	3.37:g.56468948G>A	ENSP00000288221:p.Arg30*		Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R30*	ENST00000288221.6	37	c.88	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.392196	0.97529	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.76	2.9	0.33743	.	0.063724	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8392	15.8512	0.78934	0.0:0.0:0.3861:0.6139	.	.	.	.	X	30	.	ENSP00000288221:R30X	R	-	1	2	ERC2	56443988	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.441000	0.44864	0.294000	0.22547	0.655000	0.94253	CGA	ERC2	-	NULL	ENSG00000187672		0.493	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	95	0.00	0	G	NM_015576		56468948	56468948	-1	no_errors	ENST00000288221	ensembl	human	known	69_37n	nonsense	56	36.36	32	SNP	1.000	A
FAM47B	170062	genome.wustl.edu	37	X	34961515	34961515	+	Silent	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:34961515G>A	ENST00000329357.5	+	1	603	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	189	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGCCCGCGGCCTCCCG	0.642																																						dbGAP											0													25.0	29.0	27.0					X																	34961515		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.567G>A	X.37:g.34961515G>A			Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.P189	ENST00000329357.5	37	c.567	CCDS14236.1	X																																																																																			FAM47B	-	NULL	ENSG00000189132		0.642	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	96	0.00	0	G	NM_152631		34961515	34961515	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	silent	84	16.00	16	SNP	0.045	A
FDPS	2224	genome.wustl.edu	37	1	155279519	155279519	+	Intron	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:155279519C>T	ENST00000356657.6	+	2	161				FDPS_ENST00000368356.4_Intron|FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase						cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CACCATGCCTCTGCCTTTGGT	0.602																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.-1-61C>T	1.37:g.155279519C>T			D3DV91|E9PCI9|Q96G29	RNA	SNP	-	NULL	ENST00000356657.6	37	NULL	CCDS1110.1	1																																																																																			FDPS	-	-	ENSG00000160752		0.602	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	23	0.00	0	C	NM_002004		155279519	155279519	+1	no_errors	ENST00000487002	ensembl	human	known	69_37n	rna	10	50.00	10	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155290290	155290290	+	Missense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:155290290G>A	ENST00000356657.6	+	11	1312	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E384K|FDPS_ENST00000447866.1_Missense_Mutation_p.E318K|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	384					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTTGCAATATGAGGAAGACAG	0.542																																						dbGAP											0													58.0	53.0	54.0					1																	155290290		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1150G>A	1.37:g.155290290G>A	ENSP00000349078:p.Glu384Lys		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E384K	ENST00000356657.6	37	c.1150	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709765	0.48517	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.64260	-0.09;-0.09;-0.09	3.24	2.33	0.28932	Terpenoid synthase (2);	0.000000	0.37530	N	0.002052	T	0.61022	0.2314	M	0.86028	2.79	0.54753	D	0.999987	P	0.47841	0.901	P	0.49301	0.606	T	0.67632	-0.5621	10	0.72032	D	0.01	-16.3077	9.7473	0.40455	0.0:0.0:0.7915:0.2085	.	384	P14324	FPPS_HUMAN	K	318;384;384	ENSP00000391755:E318K;ENSP00000357340:E384K;ENSP00000349078:E384K	ENSP00000349078:E384K	E	+	1	0	FDPS	153556914	1.000000	0.71417	0.873000	0.34254	0.010000	0.07245	6.666000	0.74446	0.943000	0.37553	-0.360000	0.07572	GAG	FDPS	-	superfamily_Terpenoid_synth	ENSG00000160752		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	54	0.00	0	G	NM_002004		155290290	155290290	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	missense	66	35.29	36	SNP	1.000	A
FILIP1	27145	genome.wustl.edu	37	6	76124553	76124553	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr6:76124553C>T	ENST00000237172.7	-	2	466	c.136G>A	c.(136-138)Gag>Aag	p.E46K	FILIP1_ENST00000393004.2_Missense_Mutation_p.E46K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	46										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACATCATCCTCCTTCCTATTT	0.423																																						dbGAP											0													238.0	233.0	234.0					6																	76124553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.136G>A	6.37:g.76124553C>T	ENSP00000237172:p.Glu46Lys		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.E46K	ENST00000237172.7	37	c.136	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386798	0.61956	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.18174	2.23;2.23	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.32530	0.975	0.44036	D	0.996765	B;B;B	0.20550	0.027;0.027;0.046	B;B;B	0.15484	0.006;0.006;0.013	T	0.08351	-1.0726	10	0.39692	T	0.17	-22.8287	13.6337	0.62210	0.0:0.9256:0.0:0.0744	.	46;46;46	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	46	ENSP00000376728:E46K;ENSP00000237172:E46K	ENSP00000237172:E46K	E	-	1	0	FILIP1	76181273	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.137000	0.58010	2.550000	0.86006	0.650000	0.86243	GAG	FILIP1	-	NULL	ENSG00000118407		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	63	0.00	0	C	XM_029179		76124553	76124553	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	T
FRMPD4	9758	genome.wustl.edu	37	X	12516808	12516808	+	Silent	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:12516808G>A	ENST00000380682.1	+	2	557	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	17					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCACAGGACGAAGTCTTCAG	0.527																																						dbGAP											0													45.0	46.0	46.0					X																	12516808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.51G>A	X.37:g.12516808G>A			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.T17	ENST00000380682.1	37	c.51	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.527	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	24	0.00	0	G	XM_045712		12516808	12516808	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	0.678	A
FOXO4	4303	genome.wustl.edu	37	X	70321266	70321266	+	Missense_Mutation	SNP	C	C	G			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:70321266C>G	ENST00000374259.3	+	2	1518	c.1186C>G	c.(1186-1188)Ctt>Gtt	p.L396V	FOXO4_ENST00000341558.3_Missense_Mutation_p.L341V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	396					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGCTCCGACTCTTCTGTTGCT	0.647																																						dbGAP											0													25.0	26.0	26.0					X																	70321266		1956	4124	6080	-	-	-	SO:0001583	missense	0				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1186C>G	X.37:g.70321266C>G	ENSP00000363377:p.Leu396Val		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L396V	ENST00000374259.3	37	c.1186	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	C	7.815	0.716626	0.15306	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.96200	-3.6;-3.94	4.79	4.79	0.61399	.	0.652243	0.15182	N	0.276076	D	0.93458	0.7913	L	0.50333	1.59	0.35331	D	0.785663	P;P	0.45474	0.859;0.779	B;B	0.43155	0.41;0.232	D	0.93402	0.6761	10	0.14656	T	0.56	-23.4743	15.8686	0.79091	0.0:1.0:0.0:0.0	.	341;396	P98177-2;P98177	.;FOXO4_HUMAN	V	396;341	ENSP00000363377:L396V;ENSP00000342209:L341V	ENSP00000342209:L341V	L	+	1	0	FOXO4	70237991	0.997000	0.39634	0.939000	0.37840	0.217000	0.24651	2.006000	0.40874	2.199000	0.70637	0.600000	0.82982	CTT	FOXO4	-	NULL	ENSG00000184481		0.647	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	19	0.00	0	C	NM_005938		70321266	70321266	+1	no_errors	ENST00000374259	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	0.967	G
HPN	3249	genome.wustl.edu	37	19	35551280	35551280	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr19:35551280C>T	ENST00000262626.2	+	8	1309	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R162C	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	162					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCCGTGGACCGCATCGTGGG	0.692																																						dbGAP											0													42.0	47.0	45.0					19																	35551280		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.484C>T	19.37:g.35551280C>T	ENSP00000262626:p.Arg162Cys		B2RDS4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R162C	ENST00000262626.2	37	c.484	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366552	0.82463	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.92858	-3.12;-3.12	4.92	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.68943	0.946;0.908;0.961	D	0.96499	0.9370	10	0.87932	D	0	.	10.6761	0.45787	0.1906:0.8094:0.0:0.0	.	134;162;162	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	C	162;162;134	ENSP00000262626:R162C;ENSP00000376060:R162C	ENSP00000262626:R162C	R	+	1	0	HPN	40243120	0.996000	0.38824	0.970000	0.41538	0.959000	0.62525	3.138000	0.50570	2.561000	0.86390	0.555000	0.69702	CGC	HPN	-	superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6	ENSG00000105707		0.692	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	HGNC	protein_coding	OTTHUMT00000461573.1	64	0.00	0	C	NM_002151		35551280	35551280	+1	no_errors	ENST00000262626	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	1.000	T
IGKV1D-16	28901	genome.wustl.edu	37	2	90139522	90139522	+	RNA	SNP	G	G	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr2:90139522G>T	ENST00000492446.1	+	0	320									immunoglobulin kappa variable 1D-16																		CTCACCATCAGCAGCCTGCAG	0.498																																						dbGAP											0													48.0	51.0	50.0					2																	90139522		1799	4030	5829	-	-	-			0			K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139522G>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S98I	ENST00000492446.1	37	c.293		2																																																																																			IGKV1D-16	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000241244		0.498	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-16	HGNC	IG_V_gene	OTTHUMT00000323144.2	135	0.00	0	G	NG_000833		90139522	90139522	+1	no_stop_codon	ENST00000492446	ensembl	human	known	69_37n	missense	81	45.64	68	SNP	1.000	T
KIAA0513	9764	genome.wustl.edu	37	16	85100730	85100730	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr16:85100730C>T	ENST00000566428.1	+	2	684	c.53C>T	c.(52-54)gCa>gTa	p.A18V	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A18V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A18V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A18V			O60268	K0513_HUMAN	KIAA0513	18						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGGCCTGAGGCACCCACCTCT	0.667																																						dbGAP											0													58.0	55.0	56.0					16																	85100730		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.53C>T	16.37:g.85100730C>T	ENSP00000457408:p.Ala18Val		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.A18V	ENST00000566428.1	37	c.53	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587772	0.28268	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.44881	0.91;0.91	4.73	2.74	0.32292	.	0.639650	0.16426	N	0.214932	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.30621	-0.9972	10	0.02654	T	1	-13.1019	7.3948	0.26929	0.0:0.7289:0.0:0.2711	.	18;18	B4DSS5;O60268	.;K0513_HUMAN	V	18	ENSP00000446439:A18V;ENSP00000258180:A18V	ENSP00000258180:A18V	A	+	2	0	KIAA0513	83658231	0.008000	0.16893	0.007000	0.13788	0.206000	0.24218	0.565000	0.23578	1.121000	0.41925	0.561000	0.74099	GCA	KIAA0513	-	NULL	ENSG00000135709		0.667	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	48	0.00	0	C	NM_014732		85100730	85100730	+1	no_errors	ENST00000258180	ensembl	human	known	69_37n	missense	34	27.08	13	SNP	0.002	T
KIAA2018	205717	genome.wustl.edu	37	3	113378576	113378577	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr3:113378576_113378577delAG	ENST00000478658.1	-	5	1969_1970	c.1952_1953delCT	c.(1951-1953)actfs	p.T651fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.T651fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	651						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAACAGAAAAAGTTTGTGTTGA	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1952_1953delCT	3.37:g.113378576_113378577delAG	ENSP00000420721:p.Thr651fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T651fs	ENST00000478658.1	37	c.1953_1952	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.401	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	36	0.00	0	AG	NM_001009899		113378576	113378577	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	frame_shift_del	55	23.29	17	DEL	0.883:0.898	-
LCMT2	9836	genome.wustl.edu	37	15	43622012	43622012	+	Missense_Mutation	SNP	C	C	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr15:43622012C>A	ENST00000305641.5	-	1	791	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	226					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGGCCAAAGGCGTCTTGAGGC	0.612																																						dbGAP											0													47.0	41.0	43.0					15																	43622012		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.676G>T	15.37:g.43622012C>A	ENSP00000307214:p.Ala226Ser		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	pfam_LCM_MeTrfase	p.A226S	ENST00000305641.5	37	c.676	CCDS10094.1	15	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808945	0.31961	.	.	ENSG00000168806	ENST00000305641	T	0.23147	1.92	5.29	3.3	0.37823	.	0.121522	0.56097	D	0.000030	T	0.26484	0.0647	L	0.52266	1.64	0.80722	D	1	P	0.48230	0.907	P	0.45232	0.474	T	0.03287	-1.1052	10	0.31617	T	0.26	-26.9008	12.1065	0.53816	0.0:0.6696:0.3304:0.0	.	226	O60294	LCMT2_HUMAN	S	226	ENSP00000307214:A226S	ENSP00000307214:A226S	A	-	1	0	LCMT2	41409304	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.413000	0.34725	1.432000	0.47375	0.655000	0.94253	GCC	LCMT2	-	NULL	ENSG00000168806		0.612	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	104	0.00	0	C	NM_014793		43622012	43622012	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	missense	37	49.32	36	SNP	0.997	A
LEPRE1	64175	genome.wustl.edu	37	1	43218275	43218275	+	Missense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:43218275G>A	ENST00000296388.5	-	9	1457	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	LEPRE1_ENST00000397054.3_Missense_Mutation_p.S469F|LEPRE1_ENST00000236040.4_Missense_Mutation_p.S469F			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	469				S -> Y (in Ref. 1; AAG31019). {ECO:0000305}.	bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCCGCTGGGAACCATTCAG	0.532																																						dbGAP											0													105.0	88.0	93.0					1																	43218275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1406C>T	1.37:g.43218275G>A	ENSP00000296388:p.Ser469Phe		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.S469F	ENST00000296388.5	37	c.1406	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.139465	0.77775	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.69040	-0.37;-0.37;-0.37	4.96	4.96	0.65561	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.74258	2.255	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.83488	0.0068	10	0.87932	D	0	-40.2242	15.7411	0.77899	0.0:0.0:1.0:0.0	.	469;334;469	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	F	469;469;469;334	ENSP00000380245:S469F;ENSP00000236040:S469F;ENSP00000296388:S469F	ENSP00000236040:S469F	S	-	2	0	LEPRE1	42990862	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	9.260000	0.95568	2.595000	0.87683	0.457000	0.33378	TCC	LEPRE1	-	smart_Pro_4_hyd_alph	ENSG00000117385		0.532	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	48	0.00	0	G	NM_022356		43218275	43218275	-1	no_errors	ENST00000236040	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	1.000	A
FAM230C	26080	genome.wustl.edu	37	22	21660920	21660920	+	lincRNA	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr22:21660920G>A	ENST00000436681.1	-	0	2717																											TGGATACCCCGAAGGCCCCTG	0.443																																						dbGAP											0																																										-	-	-			0																															22.37:g.21660920G>A				RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-	ENSG00000206142		0.443	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	10	0.00	0	G			21660920	21660920	-1	no_errors	ENST00000416615	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	0.017	A
MEIS3	56917	genome.wustl.edu	37	19	47910643	47910643	+	Missense_Mutation	SNP	C	C	G	rs140216998		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr19:47910643C>G	ENST00000558555.1	-	9	1088	c.901G>C	c.(901-903)Gac>Cac	p.D301H	MEIS3_ENST00000559524.1_Missense_Mutation_p.D347H|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Missense_Mutation_p.D389H|MEIS3_ENST00000441740.2_Missense_Mutation_p.D284H|MEIS3_ENST00000561293.1_Missense_Mutation_p.D347H|MEIS3_ENST00000331559.5_Missense_Mutation_p.D330H			Q99687	MEIS3_HUMAN	Meis homeobox 3	301					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		AGCCCCGTGTCCTGCGCCAGC	0.697																																						dbGAP											0													49.0	49.0	49.0					19																	47910643		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.901G>C	19.37:g.47910643C>G	ENSP00000454073:p.Asp301His		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.D347H	ENST00000558555.1	37	c.1039		19	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551000	0.86127	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D	0.92199	-2.99	4.09	4.09	0.47781	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	N	0.11255	0.115	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.997;0.726;0.995;1.0	D;D;P;P;D	0.91635	0.999;0.978;0.467;0.885;0.999	D	0.92823	0.6274	10	0.87932	D	0	-5.9902	14.1793	0.65564	0.0:1.0:0.0:0.0	.	193;301;284;347;176	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	H	347;284	ENSP00000388667:D284H	ENSP00000333552:D347H	D	-	1	0	MEIS3	52602455	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.443000	0.66581	2.277000	0.76020	0.491000	0.48974	GAC	MEIS3	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000105419		0.697	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	106	0.93	1	C	XM_085929		47910643	47910643	-1	no_errors	ENST00000559524	ensembl	human	known	69_37n	missense	84	33.33	42	SNP	1.000	G
MUC2	4583	genome.wustl.edu	37	11	1093104	1093104	+	Silent	SNP	C	C	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr11:1093104C>A	ENST00000441003.2	+	30	4950	c.4923C>A	c.(4921-4923)acC>acA	p.T1641T	MUC2_ENST00000359061.5_Silent_p.T1608T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tgaccccaaccccaacaccca	0.632																																						dbGAP											0													62.0	114.0	96.0					11																	1093104		1795	3418	5213	-	-	-	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4923C>A	11.37:g.1093104C>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1641	ENST00000441003.2	37	c.4923		11																																																																																			MUC2	-	NULL	ENSG00000198788		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	313	0.63	2	C	NM_002457		1093104	1093104	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	silent	345	10.36	40	SNP	0.095	A
MUC4	4585	genome.wustl.edu	37	3	195477775	195477775	+	Missense_Mutation	SNP	G	G	T	rs200034388		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr3:195477775G>T	ENST00000346145.4	-	22	3187	c.3148C>A	c.(3148-3150)Cgc>Agc	p.R1050S	MUC4_ENST00000463781.3_Missense_Mutation_p.R5286S|MUC4_ENST00000349607.4_Missense_Mutation_p.R999S|MUC4_ENST00000475231.1_Missense_Mutation_p.R5234S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2043					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCACATCGCGCACGTCTTCC	0.632																																						dbGAP											0													55.0	49.0	51.0					3																	195477775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3148C>A	3.37:g.195477775G>T	ENSP00000304207:p.Arg1050Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.R5286S	ENST00000346145.4	37	c.15856	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	g	8.227	0.803822	0.16467	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.36878	1.23;1.59;1.55;1.54	5.15	-9.3	0.00649	.	2.793970	0.01059	N	0.004610	T	0.16385	0.0394	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.27932	0.083;0.011;0.011;0.002;0.002;0.194	B;B;B;B;B;B	0.23852	0.034;0.011;0.011;0.002;0.002;0.049	T	0.22591	-1.0212	10	0.09338	T	0.73	-0.0141	1.9039	0.03273	0.2608:0.08:0.3238:0.3354	.	5158;999;1050;5286;5234;1991	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	S	999;1050;5286;5234;1786	ENSP00000338109:R999S;ENSP00000304207:R1050S;ENSP00000417498:R5286S;ENSP00000420243:R5234S	ENSP00000304207:R1050S	R	-	1	0	MUC4	196963446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.445000	0.00468	-2.129000	0.00817	-1.183000	0.01708	CGC	MUC4	-	NULL	ENSG00000145113		0.632	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	54	0.00	0	G	NM_018406		195477775	195477775	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	56	30.00	24	SNP	0.000	T
NKRF	55922	genome.wustl.edu	37	X	118724234	118724234	+	Missense_Mutation	SNP	T	T	C			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:118724234T>C	ENST00000371527.1	-	2	1806	c.1154A>G	c.(1153-1155)cAc>cGc	p.H385R	NKRF_ENST00000304449.5_Missense_Mutation_p.H385R|NKRF_ENST00000542113.1_Missense_Mutation_p.H400R|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	385					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCTAAGCAGTGATCTTGTAA	0.393																																						dbGAP											0													117.0	105.0	109.0					X																	118724234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1154A>G	X.37:g.118724234T>C	ENSP00000360582:p.His385Arg		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.H400R	ENST00000371527.1	37	c.1199	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759203	0.31137	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.97480	-4.4;-4.4;-4.4	5.85	5.85	0.93711	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.094748	0.64402	D	0.000001	D	0.94453	0.8215	L	0.53249	1.67	0.52099	D	0.999948	P	0.35077	0.483	B	0.27887	0.084	D	0.93337	0.6706	10	0.27082	T	0.32	-17.2043	14.2577	0.66062	0.0:0.0:0.0:1.0	.	385	O15226	NKRF_HUMAN	R	385;385;400	ENSP00000360582:H385R;ENSP00000304803:H385R;ENSP00000442308:H400R	ENSP00000304803:H385R	H	-	2	0	NKRF	118608262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	1.965000	0.57142	0.486000	0.48141	CAC	NKRF	-	smart_Ds-RNA-bd	ENSG00000186416		0.393	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	74	0.00	0	T	NM_017544		118724234	118724234	-1	no_errors	ENST00000542113	ensembl	human	known	69_37n	missense	73	15.12	13	SNP	1.000	C
NKX2-6	137814	genome.wustl.edu	37	8	23560250	23560250	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr8:23560250C>T	ENST00000325017.3	-	2	619	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	NKX2-6_ENST00000418222.1_Missense_Mutation_p.R125Q	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	207					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACAGCTACTCGGCGCGGCGT	0.667																																						dbGAP											0													33.0	30.0	31.0					8																	23560250		692	1591	2283	-	-	-	SO:0001583	missense	0			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.620G>A	8.37:g.23560250C>T	ENSP00000320089:p.Arg207Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.R125Q	ENST00000325017.3	37	c.374		8	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507237	0.64410	.	.	ENSG00000180053	ENST00000325017;ENST00000418222	D;D	0.91068	-2.62;-2.78	3.76	3.76	0.43208	.	0.000000	0.44902	D	0.000403	D	0.95472	0.8529	M	0.88031	2.925	0.37759	D	0.926254	D	0.89917	1.0	D	0.83275	0.996	D	0.96812	0.9597	10	0.59425	D	0.04	.	13.0982	0.59206	0.0:1.0:0.0:0.0	.	207	A6NCS4	NKX26_HUMAN	Q	207;125	ENSP00000320089:R207Q;ENSP00000402231:R125Q	ENSP00000320089:R207Q	R	-	2	0	NKX2-6	23616195	0.985000	0.35326	1.000000	0.80357	0.026000	0.11368	7.358000	0.79466	1.915000	0.55452	0.313000	0.20887	CGA	NKX2-6	-	NULL	ENSG00000180053		0.667	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	NKX2-6	HGNC	protein_coding	OTTHUMT00000376057.4	108	0.00	0	C	NM_001136271		23560250	23560250	-1	no_errors	ENST00000418222	ensembl	human	known	69_37n	missense	62	39.81	41	SNP	1.000	T
NT5C3A	51251	genome.wustl.edu	37	7	33054388	33054388	+	Missense_Mutation	SNP	T	T	C	rs79747830	byFrequency	TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr7:33054388T>C	ENST00000242210.7	-	9	1041	c.965A>G	c.(964-966)gAt>gGt	p.D322G	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D271G|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D271G|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D283G|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D317G|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D283G	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	322					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.D322G(1)									TAATGATTCATCTTGTACTAA	0.353																																						dbGAP											1	Substitution - Missense(1)	skin(1)											103.0	105.0	104.0					7																	33054388		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.965A>G	7.37:g.33054388T>C	ENSP00000242210:p.Asp322Gly		A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.D322G	ENST00000242210.7	37	c.965	CCDS34616.1	7	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714928	0.89112	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.94	5.94	0.96194	HAD-like domain (1);	0.323125	0.35646	N	0.003065	D	0.95564	0.8558	M	0.93197	3.39	0.80722	D	1	P;P	0.50369	0.934;0.553	P;P	0.60949	0.881;0.531	D	0.96469	0.9347	10	0.87932	D	0	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	322;283	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	G	271;283;322;283;271	ENSP00000371039:D271G;ENSP00000379456:D283G;ENSP00000242210:D322G;ENSP00000385261:D283G;ENSP00000387166:D271G	ENSP00000242210:D322G	D	-	2	0	NT5C3	33020913	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	GAT	NT5C3	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	ENSG00000122643		0.353	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	NT5C3	HGNC	protein_coding	OTTHUMT00000328880.1	46	0.00	0	T	NM_016489		33054388	33054388	-1	no_errors	ENST00000242210	ensembl	human	known	69_37n	missense	52	10.17	6	SNP	1.000	C
NUP155	9631	genome.wustl.edu	37	5	37371053	37371053	+	Silent	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr5:37371053C>T	ENST00000231498.3	-	1	230	c.27G>A	c.(25-27)gcG>gcA	p.A9A	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Silent_p.A9A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	9					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGCCGGCATCGCCGCGCCCA	0.537																																						dbGAP											0													44.0	43.0	43.0					5																	37371053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.27G>A	5.37:g.37371053C>T			Q9UBE9|Q9UFL5	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.A9	ENST00000231498.3	37	c.27	CCDS3921.1	5																																																																																			NUP155	-	NULL	ENSG00000113569		0.537	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	16	0.00	0	C	NM_153485, NM_004298		37371053	37371053	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.001	T
OR52B4	143496	genome.wustl.edu	37	11	4389026	4389026	+	Missense_Mutation	SNP	C	C	G			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr11:4389026C>G	ENST00000408920.2	-	1	590	c.500G>C	c.(499-501)aGa>aCa	p.R167T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	167					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAGTCAATCTTTTTAAAAG	0.333																																						dbGAP											0													61.0	60.0	61.0					11																	4389026		1823	4077	5900	-	-	-	SO:0001583	missense	0			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.500G>C	11.37:g.4389026C>G	ENSP00000386160:p.Arg167Thr		A6NP68|Q6IFK6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R167T	ENST00000408920.2	37	c.500	CCDS41609.1	11	.	.	.	.	.	.	.	.	.	.	C	10.53	1.374643	0.24857	.	.	ENSG00000221996	ENST00000408920	T	0.00019	9.06	5.14	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00328	0.0010	M	0.86097	2.795	0.09310	N	1	D	0.53312	0.959	P	0.56916	0.809	T	0.22382	-1.0218	10	0.87932	D	0	.	8.8934	0.35449	0.0:0.7639:0.1536:0.0825	.	167	Q8NGK2	O52B4_HUMAN	T	167	ENSP00000386160:R167T	ENSP00000386160:R167T	R	-	2	0	OR52B4	4345602	0.000000	0.05858	0.326000	0.25389	0.006000	0.05464	0.573000	0.23699	1.385000	0.46445	-0.175000	0.13238	AGA	OR52B4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221996		0.333	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B4	HGNC	protein_coding	OTTHUMT00000334449.3	19	0.00	0	C	NM_001005161		4389026	4389026	-1	no_errors	ENST00000408920	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.028	G
OR8I2	120586	genome.wustl.edu	37	11	55861250	55861250	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr11:55861250C>T	ENST00000302124.2	+	1	498	c.467C>T	c.(466-468)tCg>tTg	p.S156L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156*(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTCACAAGCTCGCTGATATCT	0.433																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											148.0	138.0	141.0					11																	55861250		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.467C>T	11.37:g.55861250C>T	ENSP00000303864:p.Ser156Leu		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S156L	ENST00000302124.2	37	c.467	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	8.445	0.851705	0.17034	.	.	ENSG00000172154	ENST00000302124	T	0.43688	0.94	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001187	T	0.48750	0.1517	M	0.82323	2.585	0.34146	D	0.666984	P	0.45428	0.858	B	0.44224	0.444	T	0.68236	-0.5462	10	0.56958	D	0.05	-16.8543	10.0012	0.41929	0.0:0.9045:0.0:0.0955	.	156	Q8N0Y5	OR8I2_HUMAN	L	156	ENSP00000303864:S156L	ENSP00000303864:S156L	S	+	2	0	OR8I2	55617826	0.002000	0.14202	0.118000	0.21660	0.006000	0.05464	1.238000	0.32707	2.115000	0.64714	0.440000	0.28878	TCG	OR8I2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172154		0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		51	0.00	0	C	NM_001003750		55861250	55861250	+1	no_errors	ENST00000302124	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	0.755	T
PALMD	54873	genome.wustl.edu	37	1	100151978	100151978	+	Intron	SNP	G	G	T	rs9661328	byFrequency	TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:100151978G>T	ENST00000263174.4	+	4	626				PALMD_ENST00000605497.1_Intron	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin						regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGGAGCAAAGGTCAAATGCTT	0.294													G|||	2210	0.441294	0.3396	0.4755	5008	,	,		16938	0.4722		0.5348	False		,,,				2504	0.4264					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.252-254G>T	1.37:g.100151978G>T			Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	RNA	SNP	-	NULL	ENST00000263174.4	37	NULL	CCDS758.1	1																																																																																			PALMD	-	-	ENSG00000099260		0.294	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	8	0.00	0	G	NM_017734		100151978	100151978	+1	no_errors	ENST00000496843	ensembl	human	known	69_37n	rna	1	88.89	8	SNP	0.001	T
PCSK2	5126	genome.wustl.edu	37	20	17207983	17207983	+	Silent	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr20:17207983G>A	ENST00000262545.2	+	1	348	c.33G>A	c.(31-33)gcG>gcA	p.A11A	PCSK2_ENST00000377899.1_5'UTR|PCSK2_ENST00000536609.1_Silent_p.A11A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	11					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGTGGAAGGCGGCCGCCGGGT	0.572																																						dbGAP											0													83.0	86.0	85.0					20																	17207983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.33G>A	20.37:g.17207983G>A			B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.A11	ENST00000262545.2	37	c.33	CCDS13125.1	20																																																																																			PCSK2	-	NULL	ENSG00000125851		0.572	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	40	0.00	0	G	NM_002594		17207983	17207983	+1	no_errors	ENST00000262545	ensembl	human	known	69_37n	silent	29	55.38	36	SNP	1.000	A
PHACTR3	116154	genome.wustl.edu	37	20	58349311	58349311	+	Missense_Mutation	SNP	G	G	A	rs145552173		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr20:58349311G>A	ENST00000371015.1	+	7	1407	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	PHACTR3_ENST00000359926.3_Missense_Mutation_p.E311K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E203K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E273K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E203K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E273K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E273K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	314						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TCAAGGAAGAGAAAGTAAAGG	0.507																																						dbGAP											0													42.0	47.0	45.0					20																	58349311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.940G>A	20.37:g.58349311G>A	ENSP00000360054:p.Glu314Lys		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E314K	ENST00000371015.1	37	c.940	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888550	0.33348	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.86;1.87;1.48;1.87;1.87;1.87;1.48	5.06	5.06	0.68205	.	0.201592	0.51477	D	0.000097	T	0.33235	0.0856	M	0.62723	1.935	0.80722	D	1	B;B;B	0.31548	0.328;0.003;0.008	B;B;B	0.23852	0.049;0.01;0.017	T	0.24621	-1.0155	10	0.66056	D	0.02	-9.7517	17.4155	0.87498	0.0:0.0:1.0:0.0	.	203;314;311	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	K	311;314;203;273;273;273;203	ENSP00000353002:E311K;ENSP00000360054:E314K;ENSP00000379001:E203K;ENSP00000442483:E273K;ENSP00000347866:E273K;ENSP00000378998:E273K;ENSP00000354555:E203K	ENSP00000347866:E273K	E	+	1	0	PHACTR3	57782706	1.000000	0.71417	0.609000	0.28983	0.116000	0.19942	6.769000	0.74985	2.335000	0.79485	0.655000	0.94253	GAA	PHACTR3	-	NULL	ENSG00000087495		0.507	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	28	0.00	0	G	NM_080672		58349311	58349311	+1	no_errors	ENST00000371015	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	25	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	1.000	G
PRDM2	7799	genome.wustl.edu	37	1	14105230	14105230	+	Missense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:14105230G>A	ENST00000235372.7	+	8	1796	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PRDM2_ENST00000311066.5_Missense_Mutation_p.E314K|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E113K|PRDM2_ENST00000343137.4_Missense_Mutation_p.E113K|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	314	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGTGTGATGAGAAGCCAGA	0.423																																						dbGAP											0													92.0	92.0	92.0					1																	14105230		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.940G>A	1.37:g.14105230G>A	ENSP00000235372:p.Glu314Lys		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.E314K	ENST00000235372.7	37	c.940	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157441	0.57259	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01947	4.67;4.55;4.54;4.54	5.67	5.67	0.87782	.	0.299519	0.35495	N	0.003166	T	0.10208	0.0250	M	0.62723	1.935	0.46298	D	0.998979	D;P;D;D	0.76494	0.999;0.734;0.997;0.999	D;B;P;D	0.68765	0.913;0.321;0.901;0.96	T	0.35201	-0.9798	10	0.21014	T	0.42	.	18.3267	0.90256	0.0:0.0:1.0:0.0	.	314;172;314;314	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	K	314;314;314;113;113	ENSP00000235372:E314K;ENSP00000312352:E314K;ENSP00000411103:E113K;ENSP00000341621:E113K	ENSP00000235372:E314K	E	+	1	0	PRDM2	13977817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.736000	0.62059	2.666000	0.90696	0.561000	0.74099	GAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	17	0.00	0	G	NM_012231		14105230	14105230	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	A
RABGGTB	5876	genome.wustl.edu	37	1	76253360	76253360	+	Intron	SNP	A	A	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:76253360A>T	ENST00000319942.3	+	2	182				RABGGTB_ENST00000496055.1_3'UTR|SNORD45B_ENST00000364617.1_RNA|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000370826.3_Intron|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GTGAGACAGTATTTATGTCTT	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.111+71A>T	1.37:g.76253360A>T			Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-	ENSG00000137955		0.383	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	19	0.00	0	A	NM_004582		76253360	76253360	+1	no_errors	ENST00000496055	ensembl	human	known	69_37n	rna	3	76.92	10	SNP	0.000	T
RBP3	5949	genome.wustl.edu	37	10	48383987	48383987	+	Splice_Site	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr10:48383987C>T	ENST00000224600.4	-	3	3359		c.e3-1			NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial						lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GATGTTGAACCTGAAGGATGG	0.572																																						dbGAP											0													101.0	82.0	89.0					10																	48383987		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3246-1G>A	10.37:g.48383987C>T			Q0QD34|Q5VSR0|Q8IXN0	Splice_Site	SNP	-	e3-1	ENST00000224600.4	37	c.3246-1	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657707	0.47467	.	.	ENSG00000107618	ENST00000224600	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9103	0.88931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBP3	48003993	1.000000	0.71417	0.999000	0.59377	0.330000	0.28571	6.200000	0.72118	2.483000	0.83821	0.561000	0.74099	.	RBP3	-	-	ENSG00000107618		0.572	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	85	0.00	0	C	NM_002900	Intron	48383987	48383987	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	splice_site	62	36.08	35	SNP	1.000	T
RNU11	26824	genome.wustl.edu	37	1	28975227	28975227	+	lincRNA	SNP	C	C	A	rs371969976	byFrequency	TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:28975227C>A	ENST00000427804.1	+	0	1376				RNU11_ENST00000387069.1_lincRNA																							AGCTGGTGATCGTTGGTCCCG	0.458																																						dbGAP											0													152.0	139.0	143.0					1																	28975227		692	1591	2283	-	-	-			0																															1.37:g.28975227C>A				RNA	SNP	-	NULL	ENST00000427804.1	37	NULL		1																																																																																			RNU11	-	-	ENSG00000209804		0.458	RP11-442N24__B.1-002	KNOWN	basic	lincRNA	RNU11	HGNC	lincRNA	OTTHUMT00000010342.1	72	0.00	0	C			28975227	28975227	+1	no_errors	ENST00000387069	ensembl	human	known	69_37n	rna	23	50.00	23	SNP	1.000	A
SEPT4	5414	genome.wustl.edu	37	17	56598421	56598421	+	Missense_Mutation	SNP	C	C	G			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr17:56598421C>G	ENST00000317268.3	-	10	1391	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	SEPT4_ENST00000317256.6_Missense_Mutation_p.E386D|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Missense_Mutation_p.E258D|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.E397D|SEPT4_ENST00000457347.2_Missense_Mutation_p.E420D|SEPT4_ENST00000393086.1_Missense_Mutation_p.E386D|SEPT4_ENST00000580844.1_Missense_Mutation_p.E306D|SEPT4_ENST00000579371.1_Missense_Mutation_p.E306D	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	405	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCGGTAGTTCTCATAATGTG	0.552											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													187.0	164.0	172.0					17																	56598421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1215G>C	17.37:g.56598421C>G	ENSP00000321674:p.Glu405Asp	1016	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.E420D	ENST00000317268.3	37	c.1260	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642801	0.29246	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.37	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.973;0.998;0.999;0.999	D;D;D;D;D	0.83275	0.993;0.951;0.993;0.972;0.996	T	0.82849	-0.0254	10	0.87932	D	0	.	11.9187	0.52779	0.0:0.9151:0.0:0.0849	.	397;420;386;258;405	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	D	397;419;386;405;386	ENSP00000414779:E397D;ENSP00000321071:E386D;ENSP00000321674:E405D;ENSP00000376801:E386D	ENSP00000321071:E386D	E	-	3	2	SEPT4	53953420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.322000	0.52007	1.378000	0.46305	0.655000	0.94253	GAG	SEPT4	-	pfam_Cell_div_GTP-bd	ENSG00000108387		0.552	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	27	0.00	0	C	NM_080417		56598421	56598421	-1	no_errors	ENST00000457347	ensembl	human	known	69_37n	missense	18	41.94	13	SNP	1.000	G
SEPT4	5414	genome.wustl.edu	37	17	56598442	56598442	+	Silent	SNP	C	C	G			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr17:56598442C>G	ENST00000317268.3	-	10	1370	c.1194G>C	c.(1192-1194)gtG>gtC	p.V398V	SEPT4_ENST00000317256.6_Silent_p.V379V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Silent_p.V251V|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Silent_p.V390V|SEPT4_ENST00000457347.2_Silent_p.V413V|SEPT4_ENST00000393086.1_Silent_p.V379V|SEPT4_ENST00000580844.1_Silent_p.V299V|SEPT4_ENST00000579371.1_Silent_p.V299V	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	398	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCCGTGTCACATCCTTCA	0.547											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													180.0	155.0	164.0					17																	56598442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1194G>C	17.37:g.56598442C>G		1016	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	pfam_Cell_div_GTP-bd	p.V413	ENST00000317268.3	37	c.1239	CCDS11610.1	17																																																																																			SEPT4	-	pfam_Cell_div_GTP-bd	ENSG00000108387		0.547	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	26	0.00	0	C	NM_080417		56598442	56598442	-1	no_errors	ENST00000457347	ensembl	human	known	69_37n	silent	14	46.15	12	SNP	1.000	G
SGK223	157285	genome.wustl.edu	37	8	8234883	8234883	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr8:8234883C>T	ENST00000520004.1	-	3	1300	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S	SGK223_ENST00000330777.4_Missense_Mutation_p.G346S			Q86YV5	SG223_HUMAN		346							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGCCGCTGCCGCTGCCACAA	0.652																																					GBM(34;731 755 10259 33573 33867)	dbGAP											0													12.0	19.0	17.0					8																	8234883		1606	3658	5264	-	-	-	SO:0001583	missense	0																														ENST00000520004.1:c.1036G>A	8.37:g.8234883C>T	ENSP00000428054:p.Gly346Ser		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.G346S	ENST00000520004.1	37	c.1036	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.261910	0.00262	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57107	0.42;0.42	4.34	-4.75	0.03239	.	1.782120	0.03212	N	0.176363	T	0.21307	0.0513	N	0.03608	-0.345	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.18555	-1.0333	10	0.07030	T	0.85	.	3.3025	0.06988	0.1026:0.1222:0.3344:0.4408	.	346	Q86YV5	SG223_HUMAN	S	346	ENSP00000330930:G346S;ENSP00000428054:G346S	ENSP00000330930:G346S	G	-	1	0	AC068353.1	8272293	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-1.610000	0.02064	-0.978000	0.03533	-0.880000	0.02959	GGC	PRAGMIN	-	NULL	ENSG00000182319		0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Clone_based_vega_gene	protein_coding	OTTHUMT00000374864.1	124	0.80	1	C			8234883	8234883	-1	no_errors	ENST00000330777	ensembl	human	known	69_37n	missense	120	10.45	14	SNP	0.010	T
SHANK1	50944	genome.wustl.edu	37	19	51201173	51201173	+	Silent	SNP	G	G	C			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr19:51201173G>C	ENST00000293441.1	-	12	1806	c.1788C>G	c.(1786-1788)gtC>gtG	p.V596V	SHANK1_ENST00000359082.3_Silent_p.V596V|SHANK1_ENST00000391814.1_Silent_p.V596V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	596	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CACGACCTTTGACCTGGCCTT	0.562																																						dbGAP											0													95.0	83.0	87.0					19																	51201173		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1788C>G	19.37:g.51201173G>C			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.V596	ENST00000293441.1	37	c.1788	CCDS12799.1	19																																																																																			SHANK1	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000161681		0.562	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	80	0.00	0	G	NM_016148		51201173	51201173	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	silent	77	34.19	40	SNP	1.000	C
SIGLEC1	6614	genome.wustl.edu	37	20	3673774	3673774	+	Silent	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr20:3673774C>T	ENST00000344754.4	-	14	3512	c.3513G>A	c.(3511-3513)gcG>gcA	p.A1171A	SIGLEC1_ENST00000202578.4_Silent_p.A1171A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1171					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGTTGCGGGGCGCGTCTGCAG	0.682																																						dbGAP											0													17.0	23.0	21.0					20																	3673774		2172	4277	6449	-	-	-	SO:0001819	synonymous_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3513G>A	20.37:g.3673774C>T			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A1171	ENST00000344754.4	37	c.3513	CCDS13060.1	20																																																																																			SIGLEC1	-	NULL	ENSG00000088827		0.682	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	84	0.00	0	C	NM_023068		3673774	3673774	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	silent	61	30.68	27	SNP	0.217	T
SMEK1	55671	genome.wustl.edu	37	14	91975859	91975859	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr14:91975859C>T	ENST00000554943.1	-	1	248	c.133G>A	c.(133-135)Gag>Aag	p.E45K	SMEK1_ENST00000555462.1_Missense_Mutation_p.E45K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E45K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E45K|SMEK1_ENST00000428424.2_Missense_Mutation_p.E45K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	45	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CCGTCGCTCTCAGCCCTGACA	0.711																																						dbGAP											0													20.0	21.0	21.0					14																	91975859		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.133G>A	14.37:g.91975859C>T	ENSP00000450883:p.Glu45Lys		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E45K	ENST00000554943.1	37	c.133		14	.	.	.	.	.	.	.	.	.	.	C	36	5.976798	0.97162	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000557018;ENST00000554511	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.94	4.94	0.65067	Pleckstrin homology-type (1);	0.048407	0.85682	D	0.000000	T	0.74951	0.3784	H	0.94698	3.57	0.40043	D	0.975672	D;D;D	0.71674	0.997;0.982;0.998	D;P;D	0.81914	0.995;0.792;0.953	D	0.83886	0.0282	10	0.87932	D	0	-10.9989	18.5417	0.91030	0.0:1.0:0.0:0.0	.	45;45;45	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	K	45	ENSP00000450864:E45K;ENSP00000337125:E45K;ENSP00000450883:E45K;ENSP00000452596:E45K;ENSP00000452257:E45K;ENSP00000450432:E45K;ENSP00000451939:E45K	ENSP00000337125:E45K	E	-	1	0	SMEK1	91045612	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.128000	0.77217	2.444000	0.82710	0.561000	0.74099	GAG	SMEK1	-	NULL	ENSG00000100796		0.711	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	20	0.00	0	C	NM_032560		91975859	91975859	-1	no_errors	ENST00000554943	ensembl	human	known	69_37n	missense	21	47.50	19	SNP	1.000	T
SRSF1	6426	genome.wustl.edu	37	17	56083287	56083287	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr17:56083287C>T	ENST00000258962.4	-	3	635	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SRSF1_ENST00000582730.2_Missense_Mutation_p.E143K|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.E143K|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	143	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCACCTGCTTCACGCATGTGA	0.398																																						dbGAP											0													110.0	88.0	95.0					17																	56083287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.427G>A	17.37:g.56083287C>T	ENSP00000258962:p.Glu143Lys		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E143K	ENST00000258962.4	37	c.427	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341600	0.61073	.	.	ENSG00000136450	ENST00000258962	T	0.14766	2.48	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.48877	1.53	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73380	0.98;0.976	T	0.01024	-1.1477	10	0.15066	T	0.55	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	175;143	Q59FA2;Q07955	.;SRSF1_HUMAN	K	143	ENSP00000258962:E143K	ENSP00000258962:E143K	E	-	1	0	SRSF1	53438286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.827000	0.97445	0.650000	0.86243	GAA	SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136450		0.398	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	41	0.00	0	C	NM_006924		56083287	56083287	-1	no_errors	ENST00000258962	ensembl	human	known	69_37n	missense	13	51.85	14	SNP	1.000	T
TBCCD1	55171	genome.wustl.edu	37	3	186281917	186281917	+	Missense_Mutation	SNP	C	C	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr3:186281917C>A	ENST00000424280.1	-	2	681	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	TBCCD1_ENST00000338733.5_Missense_Mutation_p.A68S|TBCCD1_ENST00000446782.1_Intron	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	68					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGGTCCTTGGCCAACTGCAGC	0.517																																						dbGAP											0													66.0	60.0	62.0					3																	186281917		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.202G>T	3.37:g.186281917C>A	ENSP00000411253:p.Ala68Ser		B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.A68S	ENST00000424280.1	37	c.202	CCDS3276.1	3	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468251	0.26335	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000413695;ENST00000430560	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	2.86	0.33363	.	0.389032	0.28927	N	0.013700	T	0.24851	0.0603	L	0.33485	1.01	0.29292	N	0.869281	B	0.09022	0.002	B	0.06405	0.002	T	0.19844	-1.0293	10	0.14656	T	0.56	-3.0472	4.5404	0.12054	0.1423:0.4636:0.3132:0.0809	.	68	Q9NVR7	TBCC1_HUMAN	S	68	ENSP00000411253:A68S;ENSP00000341652:A68S;ENSP00000391109:A68S;ENSP00000407506:A68S	ENSP00000341652:A68S	A	-	1	0	TBCCD1	187764611	0.176000	0.23096	0.997000	0.53966	0.986000	0.74619	0.269000	0.18589	0.310000	0.22990	0.561000	0.74099	GCC	TBCCD1	-	NULL	ENSG00000113838		0.517	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1	46	0.00	0	C	NM_018138		186281917	186281917	-1	no_errors	ENST00000338733	ensembl	human	known	69_37n	missense	45	47.67	41	SNP	0.889	A
TNR	7143	genome.wustl.edu	37	1	175332859	175332861	+	In_Frame_Del	DEL	ATG	ATG	-	rs376334872		TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr1:175332859_175332861delATG	ENST00000367674.2	-	13	3398_3400	c.2690_2692delCAT	c.(2689-2694)tcatat>tat	p.S897del	TNR_ENST00000263525.2_In_Frame_Del_p.S897del			Q92752	TENR_HUMAN	tenascin R	897	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGGGTCGATATGATACTCGGTA	0.438																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2690_2692delCAT	1.37:g.175332859_175332861delATG	ENSP00000356646:p.Ser897del		C9J563|Q15568|Q5R3G0	In_Frame_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.S897in_frame_del	ENST00000367674.2	37	c.2692_2690	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.438	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	61	0.00	0	ATG	NM_003285		175332859	175332861	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	in_frame_del	65	20.73	17	DEL	0.997:0.206:0.999	-
TPTE	7179	genome.wustl.edu	37	21	10907021	10907021	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr21:10907021C>T	ENST00000361285.4	-	24	1869	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	TPTE_ENST00000342420.5_Missense_Mutation_p.E476K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.E496K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	514	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATCCAATTCATTTTTTGGT	0.363																																						dbGAP											0													89.0	80.0	83.0					21																	10907021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1540G>A	21.37:g.10907021C>T	ENSP00000355208:p.Glu514Lys		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E514K	ENST00000361285.4	37	c.1540	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	10.73	1.432403	0.25813	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88896	-2.44;-2.44;-2.44	2.39	0.282	0.15692	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.060246	0.64402	U	0.000005	D	0.92743	0.7693	M	0.83953	2.67	0.44555	D	0.997519	D;D;D	0.64830	0.968;0.994;0.984	D;D;D	0.66602	0.915;0.945;0.922	D	0.91191	0.4984	10	0.72032	D	0.01	-5.7333	9.6349	0.39802	0.0:0.6237:0.3763:0.0	.	476;496;514	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	496;514;476	ENSP00000298232:E496K;ENSP00000355208:E514K;ENSP00000344441:E476K	ENSP00000298232:E496K	E	-	1	0	TPTE	9928892	0.994000	0.37717	0.174000	0.22961	0.098000	0.18820	1.366000	0.34193	0.058000	0.16222	0.184000	0.17185	GAA	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	131	0.00	0	C			10907021	10907021	-1	no_errors	ENST00000361285	ensembl	human	known	69_37n	missense	89	16.04	17	SNP	0.904	T
WASH6P	653440	genome.wustl.edu	37	X	155254556	155254556	+	RNA	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:155254556C>T	ENST00000461007.1	+	0	3472				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GGTGCTGGGTCAGGGATCGAC	0.642																																						dbGAP											0																																										-	-	-			0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254556C>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-	ENSG00000182484		0.642	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	14	0.00	0	C	NG_008380		155254556	155254556	+1	no_errors	ENST00000461007	ensembl	human	known	69_37n	rna	9	35.71	5	SNP	0.016	T
WNT16	51384	genome.wustl.edu	37	7	120969357	120969357	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr7:120969357C>T	ENST00000222462.2	+	1	301	c.11C>T	c.(10-12)gCg>gTg	p.A4V	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	4					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					ATGGACAGGGCGGCGCTCCTG	0.682																																						dbGAP											0													13.0	15.0	14.0					7																	120969357		2194	4287	6481	-	-	-	SO:0001583	missense	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.11C>T	7.37:g.120969357C>T	ENSP00000222462:p.Ala4Val		Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.A4V	ENST00000222462.2	37	c.11	CCDS5781.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972238	0.74246	.	.	ENSG00000002745	ENST00000222462	T	0.77098	-1.07	5.52	2.76	0.32466	.	0.560180	0.16471	N	0.212997	T	0.55497	0.1924	N	0.08118	0	0.25881	N	0.983595	B	0.02656	0.0	B	0.04013	0.001	T	0.48625	-0.9019	10	0.62326	D	0.03	.	5.3849	0.16213	0.0:0.5626:0.1884:0.249	.	4	Q9UBV4	WNT16_HUMAN	V	4	ENSP00000222462:A4V	ENSP00000222462:A4V	A	+	2	0	WNT16	120756593	0.927000	0.31430	0.996000	0.52242	0.940000	0.58332	0.281000	0.18810	0.289000	0.22422	0.655000	0.94253	GCG	WNT16	-	prints_Wnt16	ENSG00000002745		0.682	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	124	0.80	1	C	NM_057168		120969357	120969357	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	missense	82	39.13	54	SNP	0.999	T
XIRP2	129446	genome.wustl.edu	37	2	168099266	168099266	+	Missense_Mutation	SNP	C	C	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr2:168099266C>T	ENST00000409195.1	+	9	1453	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P455L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P233L|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	280					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCTCCTCCCCCACCTGAC	0.448																																						dbGAP											0													87.0	82.0	83.0					2																	168099266		1933	4126	6059	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1364C>T	2.37:g.168099266C>T	ENSP00000386840:p.Pro455Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.P455L	ENST00000409195.1	37	c.1364	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598021	0.87055	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.05382	3.47;3.47;3.45	5.59	5.59	0.84812	.	0.330232	0.31554	N	0.007448	T	0.24661	0.0598	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.00085	-1.2098	10	0.87932	D	0	-8.1139	18.3615	0.90376	0.0:1.0:0.0:0.0	.	280;280;233	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	455;455;233	ENSP00000386840:P455L;ENSP00000295237:P455L;ENSP00000387255:P233L	ENSP00000295237:P455L	P	+	2	0	XIRP2	167807512	0.973000	0.33851	1.000000	0.80357	0.907000	0.53573	2.491000	0.45303	2.639000	0.89480	0.655000	0.94253	CCC	XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	45	0.00	0	C	NM_152381		168099266	168099266	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	T
ZMYM3	9203	genome.wustl.edu	37	X	70462162	70462162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chrX:70462162delA	ENST00000353904.2	-	23	3847	c.3660delT	c.(3658-3660)tttfs	p.F1220fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.F1208fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.F1222fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.F1220fs|ZMYM3_ENST00000373984.3_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1220					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTGCAGCCCAAAAAACTTAG	0.562																																						dbGAP											0													102.0	65.0	77.0					X																	70462162		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3660delT	X.37:g.70462162delA	ENSP00000343909:p.Phe1220fs		D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.F1222fs	ENST00000353904.2	37	c.3666	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_DUF3504	ENSG00000147130		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	87	0.00	0	A	NM_201599		70462162	70462162	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	frame_shift_del	62	31.11	28	DEL	0.992	-
ZNF334	55713	genome.wustl.edu	37	20	45130540	45130540	+	Missense_Mutation	SNP	G	G	T			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr20:45130540G>T	ENST00000347606.4	-	5	1620	c.1438C>A	c.(1438-1440)Cag>Aag	p.Q480K	ZNF334_ENST00000457685.2_Missense_Mutation_p.Q442K|ZNF334_ENST00000593880.1_Missense_Mutation_p.Q503K	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTTCTCTGATGTATAGTG	0.373																																						dbGAP											0													105.0	101.0	102.0					20																	45130540		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1438C>A	20.37:g.45130540G>T	ENSP00000255129:p.Gln480Lys		Q5T6U2|Q9NVW4	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.Q480K	ENST00000347606.4	37	c.1438	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467273	0.43839	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.53423	0.62;0.62	3.45	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	L	0.45698	1.435	0.26561	N	0.973733	B;B;B	0.32128	0.205;0.357;0.357	B;B;B	0.27715	0.022;0.082;0.082	T	0.27331	-1.0077	9	0.54805	T	0.06	.	10.4128	0.44303	0.0:0.2015:0.7985:0.0	.	442;480;503	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	K	442;480	ENSP00000402582:Q442K;ENSP00000255129:Q480K	ENSP00000255129:Q480K	Q	-	1	0	ZNF334	44563947	0.718000	0.27976	0.851000	0.33527	0.972000	0.66771	0.553000	0.23391	0.738000	0.32606	0.591000	0.81541	CAG	ZNF334	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198185		0.373	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	52	0.00	0	G			45130540	45130540	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	missense	53	34.57	28	SNP	1.000	T
ZNF507	22847	genome.wustl.edu	37	19	32845390	32845390	+	Missense_Mutation	SNP	G	G	A			TCGA-PE-A5DD-01A-12D-A27P-09	TCGA-PE-A5DD-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0	5069f07e-fae4-47fc-8512-0ca8b9f19494	g.chr19:32845390G>A	ENST00000311921.4	+	2	1846	c.1654G>A	c.(1654-1656)Gat>Aat	p.D552N	ZNF507_ENST00000355898.5_Missense_Mutation_p.D552N|ZNF507_ENST00000544431.1_Missense_Mutation_p.D552N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAACTCTTCAGATGGATTAAC	0.428																																						dbGAP											0													70.0	74.0	73.0					19																	32845390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1654G>A	19.37:g.32845390G>A	ENSP00000312277:p.Asp552Asn		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D552N	ENST00000311921.4	37	c.1654	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479466	0.44044	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05925	3.69;3.69;3.37	5.79	4.77	0.60923	.	0.620589	0.18377	N	0.143095	T	0.07143	0.0181	L	0.36672	1.1	0.31389	N	0.678062	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.04347	-1.0958	10	0.30078	T	0.28	-9.0552	14.7325	0.69393	0.069:0.0:0.931:0.0	.	552;552	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	N	552	ENSP00000348162:D552N;ENSP00000312277:D552N;ENSP00000441549:D552N	ENSP00000312277:D552N	D	+	1	0	ZNF507	37537230	1.000000	0.71417	0.982000	0.44146	0.842000	0.47809	3.173000	0.50839	1.445000	0.47624	0.655000	0.94253	GAT	ZNF507	-	NULL	ENSG00000168813		0.428	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	26	0.00	0	G	NM_014910		32845390	32845390	+1	no_errors	ENST00000311921	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	1.000	A
