#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADCY9	115	genome.wustl.edu	37	16	4042196	4042196	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr16:4042196T>G	ENST00000294016.3	-	5	2696	c.2158A>C	c.(2158-2160)Atc>Ctc	p.I720L	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	720					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTCCCGGATGTTCTTGAAC	0.547																																						dbGAP											0													103.0	91.0	95.0					16																	4042196		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2158A>C	16.37:g.4042196T>G	ENSP00000294016:p.Ile720Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I720L	ENST00000294016.3	37	c.2158	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368545	0.24771	.	.	ENSG00000162104	ENST00000294016	T	0.81163	-1.46	5.28	5.28	0.74379	.	0.052767	0.85682	D	0.000000	T	0.65749	0.2721	N	0.20766	0.605	0.45662	D	0.998584	B	0.27351	0.176	B	0.22753	0.041	T	0.63001	-0.6734	10	0.07990	T	0.79	.	15.2182	0.73288	0.0:0.0:0.0:1.0	.	720	O60503	ADCY9_HUMAN	L	720	ENSP00000294016:I720L	ENSP00000294016:I720L	I	-	1	0	ADCY9	3982197	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.195000	0.58400	1.994000	0.58287	0.523000	0.50628	ATC	ADCY9	-	NULL	ENSG00000162104		0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	67	0.00	0	T			4042196	4042196	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	61	23.75	19	SNP	1.000	G
ANKRD33	341405	genome.wustl.edu	37	12	52284892	52284892	+	Intron	SNP	C	C	A	rs201453922		TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr12:52284892C>A	ENST00000340970.4	+	6	1035				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000301190.6_Missense_Mutation_p.Q388K			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TCAGTGGCTACAACCCAGGGA	0.637																																						dbGAP											0													65.0	55.0	58.0					12																	52284892		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.665-78C>A	12.37:g.52284892C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q388K	ENST00000340970.4	37	c.1162	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	C	2.124	-0.400670	0.04865	.	.	ENSG00000167612	ENST00000301190	T	0.20738	2.05	4.48	2.54	0.30619	.	0.832224	0.10919	N	0.619718	T	0.12774	0.0310	.	.	.	0.27150	N	0.961428	B	0.06786	0.001	B	0.13407	0.009	T	0.31530	-0.9940	9	0.27785	T	0.31	-16.6162	5.4744	0.16688	0.1941:0.6915:0.0:0.1144	.	388	Q7Z3H0-2	.	K	388	ENSP00000301190:Q388K	ENSP00000301190:Q388K	Q	+	1	0	ANKRD33	50571159	0.007000	0.16637	0.485000	0.27403	0.586000	0.36452	0.246000	0.18160	0.539000	0.28788	-0.268000	0.10319	CAA	ANKRD33	-	NULL	ENSG00000167612		0.637	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	HGNC	protein_coding	OTTHUMT00000404515.1	39	0.00	0	C	NM_182608		52284892	52284892	+1	no_errors	ENST00000301190	ensembl	human	novel	69_37n	missense	42	20.75	11	SNP	0.036	A
ARHGEF26	26084	genome.wustl.edu	37	3	153972529	153972529	+	Missense_Mutation	SNP	G	G	A	rs142649978		TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr3:153972529G>A	ENST00000356448.4	+	14	2673	c.2389G>A	c.(2389-2391)Gtt>Att	p.V797I	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V797I|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	797	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGTGGAAATCGTTAGGTCATT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20505	0.0		0.001	False		,,,				2504	0.0				GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	dbGAP											0													182.0	172.0	175.0					3																	153972529		2062	4205	6267	-	-	-	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2389G>A	3.37:g.153972529G>A	ENSP00000348828:p.Val797Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V797I	ENST00000356448.4	37	c.2389	CCDS46938.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.121	-0.180533	0.06380	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.28069	1.63;1.63	5.28	-3.1	0.05315	Src homology-3 domain (3);	0.538069	0.19974	N	0.101932	T	0.09158	0.0226	N	0.02830	-0.485	0.51482	D	0.999928	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	10	0.02654	T	1	-3.3498	11.1216	0.48293	0.5926:0.0:0.4074:0.0	.	797	Q96DR7	ARHGQ_HUMAN	I	797	ENSP00000348828:V797I;ENSP00000423418:V797I	ENSP00000348828:V797I	V	+	1	0	ARHGEF26	155455223	0.999000	0.42202	0.001000	0.08648	0.744000	0.42396	2.752000	0.47516	-0.861000	0.04094	-1.239000	0.01543	GTT	ARHGEF26	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000114790		0.468	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	101	0.00	0	G	NM_015595		153972529	153972529	+1	no_errors	ENST00000356448	ensembl	human	known	69_37n	missense	71	30.77	32	SNP	0.781	A
BRWD1	54014	genome.wustl.edu	37	21	40571242	40571242	+	Silent	SNP	T	T	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr21:40571242T>C	ENST00000333229.2	-	40	5427	c.5100A>G	c.(5098-5100)ttA>ttG	p.L1700L	BRWD1_ENST00000342449.3_Silent_p.L1700L|BRWD1_ENST00000380800.3_Silent_p.L1700L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1700					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGGACACTGGTAATAGTTGAT	0.393																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													88.0	80.0	83.0					21																	40571242		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5100A>G	21.37:g.40571242T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1700	ENST00000333229.2	37	c.5100	CCDS13662.1	21																																																																																			BRWD1	-	NULL	ENSG00000185658		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	54	0.00	0	T	NM_033656		40571242	40571242	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	silent	68	28.42	27	SNP	0.000	C
CD200R1L	344807	genome.wustl.edu	37	3	112546236	112546236	+	Silent	SNP	A	A	G			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr3:112546236A>G	ENST00000398214.1	-	3	633	c.408T>C	c.(406-408)cgT>cgC	p.R136R	CD200R1L_ENST00000488794.1_Silent_p.R115R|CD200R1L_ENST00000448932.1_Silent_p.R115R	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	136	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTGATATCCACGATGGAAAT	0.448																																						dbGAP											0													114.0	111.0	112.0					3																	112546236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.408T>C	3.37:g.112546236A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6WHB7	Silent	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.R136	ENST00000398214.1	37	c.408	CCDS43131.1	3																																																																																			CD200R1L	-	pfscan_Ig-like	ENSG00000206531		0.448	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	HGNC	protein_coding	OTTHUMT00000354365.1	134	0.00	0	A	NM_001008784		112546236	112546236	-1	no_errors	ENST00000398214	ensembl	human	known	69_37n	silent	128	15.79	24	SNP	0.000	G
DMD	1756	genome.wustl.edu	37	X	32459415	32459415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chrX:32459415C>T	ENST00000357033.4	-	28	4009	c.3803G>A	c.(3802-3804)tGg>tAg	p.W1268*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W1264*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1268					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAACTCATGCCAACATGCCCA	0.318																																						dbGAP											0													66.0	68.0	68.0					X																	32459415		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3803G>A	X.37:g.32459415C>T	ENSP00000354923:p.Trp1268*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.W1268*	ENST00000357033.4	37	c.3803	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	45	11.576670	0.99578	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.06	5.06	0.68205	.	0.000000	0.33813	U	0.004532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5877	0.87987	0.0:1.0:0.0:0.0	.	.	.	.	X	1260;1264;1268;1268;1145	.	ENSP00000354923:W1268X	W	-	2	0	DMD	32369336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.081000	0.62600	0.600000	0.82982	TGG	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.318	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	91	0.00	0	C	NM_004006		32459415	32459415	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	nonsense	44	32.31	21	SNP	1.000	T
ENC1	8507	genome.wustl.edu	37	5	73931216	73931216	+	Silent	SNP	G	G	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr5:73931216G>A	ENST00000302351.4	-	2	2225	c.1095C>T	c.(1093-1095)caC>caT	p.H365H	ENC1_ENST00000510316.1_Silent_p.H292H|ENC1_ENST00000537006.1_Silent_p.H365H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	365					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACCACTCCTCGTGCAGGGTAT	0.567																																						dbGAP											0													62.0	64.0	63.0					5																	73931216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1095C>T	5.37:g.73931216G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H365	ENST00000302351.4	37	c.1095	CCDS4021.1	5																																																																																			ENC1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.567	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	30	0.00	0	G	NM_003633		73931216	73931216	-1	no_errors	ENST00000302351	ensembl	human	known	69_37n	silent	17	43.33	13	SNP	0.654	A
ENC1	8507	genome.wustl.edu	37	5	73931919	73931919	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr5:73931919T>A	ENST00000302351.4	-	2	1522	c.392A>T	c.(391-393)gAc>gTc	p.D131V	ENC1_ENST00000510316.1_Missense_Mutation_p.D58V|ENC1_ENST00000537006.1_Missense_Mutation_p.D131V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	131					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATCCCGGATGTCTTGAAACTC	0.532																																						dbGAP											0													97.0	94.0	95.0					5																	73931919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.392A>T	5.37:g.73931919T>A	ENSP00000306356:p.Asp131Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D131V	ENST00000302351.4	37	c.392	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886790	0.72410	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.68025	-0.3;-0.3;-0.3	6.04	6.04	0.98038	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.69185	2.1	0.80722	D	1	P	0.49862	0.929	P	0.56216	0.794	T	0.74325	-0.3702	10	0.31617	T	0.26	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	131	O14682	ENC1_HUMAN	V	131;58;131	ENSP00000306356:D131V;ENSP00000423804:D58V;ENSP00000446289:D131V	ENSP00000306356:D131V	D	-	2	0	ENC1	73967675	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAC	ENC1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.532	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	49	0.00	0	T	NM_003633		73931919	73931919	-1	no_errors	ENST00000302351	ensembl	human	known	69_37n	missense	41	34.92	22	SNP	1.000	A
FZD2	2535	genome.wustl.edu	37	17	42636438	42636438	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr17:42636438G>A	ENST00000315323.3	+	1	1514	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	461					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTCATGGTGCGCATCGGCGTC	0.627																																						dbGAP											0													95.0	77.0	83.0					17																	42636438		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1382G>A	17.37:g.42636438G>A	ENSP00000323901:p.Arg461His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.R461H	ENST00000315323.3	37	c.1382	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	26.0	4.699198	0.88830	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.86164	-2.08	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97249	0.9896	10	0.87932	D	0	.	18.433	0.90633	0.0:0.0:1.0:0.0	.	461	Q14332	FZD2_HUMAN	H	537;461	ENSP00000323901:R461H	ENSP00000323901:R461H	R	+	2	0	FZD2	39991964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.436000	0.82500	0.561000	0.74099	CGC	FZD2	-	pfam_Frizzled,prints_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	37	0.00	0	G	NM_001466		42636438	42636438	+1	no_errors	ENST00000315323	ensembl	human	known	69_37n	missense	20	54.55	24	SNP	1.000	A
GNAS	2778	genome.wustl.edu	37	20	57430146	57430147	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr20:57430146_57430147insC	ENST00000371100.4	+	1	2378_2379	c.1826_1827insC	c.(1825-1830)cgcaacfs	p.N610fs	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Frame_Shift_Ins_p.N610fs|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Frame_Shift_Ins_p.A546fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.N610fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AACTTACTCCGCAACTTTCTCG	0.634			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1827dupC	20.37:g.57430147_57430147dupC	ENSP00000360141:p.Asn610fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.N610fs	ENST00000371100.4	37	c.1826_1827	CCDS46622.1	20																																																																																			GNAS	-	NULL	ENSG00000087460		0.634	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	39	0.00	0	-	NM_000516		57430146	57430147	+1	no_errors	ENST00000371100	ensembl	human	putative	69_37n	frame_shift_ins	37	35.09	20	INS	0.976:0.985	C
GOLGA8A	23015	genome.wustl.edu	37	15	34673973	34673973	+	Missense_Mutation	SNP	C	C	T	rs347879	byFrequency	TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr15:34673973C>T	ENST00000359187.4	-	15	1602	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	GOLGA8A_ENST00000432566.2_Missense_Mutation_p.R543Q|MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.R513Q|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.R370Q	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	541						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGCAGGGTTCCGGGCAGCGGC	0.672													c|||	2007	0.400759	0.1293	0.4568	5008	,	,		9978	0.5377		0.4632	False		,,,				2504	0.5225					dbGAP											0													1.0	1.0	1.0					15																	34673973		900	1865	2765	-	-	-	SO:0001583	missense	0			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1538G>A	15.37:g.34673973C>T	ENSP00000352111:p.Arg513Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.R543Q	ENST00000359187.4	37	c.1628	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.435595	0.01108	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.01835	0.0058	N	0.00038	-2.52	0.58432	P	9.000000000036756E-6	B;B	0.17852	0.014;0.024	B;B	0.09377	0.002;0.004	T	0.41574	-0.9501	8	0.02654	T	1	.	4.0142	0.09636	0.0:0.2771:0.0:0.7229	.	513;541	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	Q	513;513;543;370	ENSP00000352111:R513Q;ENSP00000353755:R513Q;ENSP00000402791:R543Q;ENSP00000438613:R370Q	ENSP00000352111:R513Q	R	-	2	0	GOLGA8A	32461265	0.615000	0.27026	0.267000	0.24556	0.124000	0.20399	0.636000	0.24644	-0.402000	0.07633	-0.745000	0.03516	CGG	GOLGA8A	-	NULL	ENSG00000175265		0.672	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	14	0.00	0	C	NM_181076		34673973	34673973	-1	no_errors	ENST00000432566	ensembl	human	known	69_37n	missense	5	37.50	3	SNP	0.998	T
GRID1	2894	genome.wustl.edu	37	10	87407363	87407363	+	Intron	SNP	C	C	T	rs10788461	byFrequency	TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr10:87407363C>T	ENST00000327946.7	-	13	2083				GRID1_ENST00000536331.1_Intron|RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTTCTCAGTGCAGattaattc	0.448										Multiple Myeloma(13;0.14)			T|||	2636	0.526358	0.7799	0.4409	5008	,	,		20505	0.3532		0.4592	False		,,,				2504	0.4918					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1998-209G>A	10.37:g.87407363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	RNA	SNP	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.448	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	8	0.00	0	C	XM_043613		87407363	87407363	-1	no_errors	ENST00000474115	ensembl	human	known	69_37n	rna	2	71.43	5	SNP	0.000	T
GRM6	2916	genome.wustl.edu	37	5	178416347	178416347	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr5:178416347C>T	ENST00000517717.1	-	6	1110	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	GRM6_ENST00000231188.5_Missense_Mutation_p.A358T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	358					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A358T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGAACTCGGCGAACCAGATG	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	103.0	103.0					5																	178416347		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1072G>A	5.37:g.178416347C>T	ENSP00000430767:p.Ala358Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.A358T	ENST00000517717.1	37	c.1072	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467955	0.84533	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86297	-2.1;-2.1	5.07	5.07	0.68467	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.85164	0.5634	M	0.69358	2.11	0.53005	D	0.999966	B	0.27316	0.175	B	0.21708	0.036	T	0.81775	-0.0778	9	0.23302	T	0.38	.	16.3378	0.83071	0.0:1.0:0.0:0.0	.	358	O15303	GRM6_HUMAN	T	390;358;358	ENSP00000231188:A358T;ENSP00000430767:A358T	ENSP00000231188:A358T	A	-	1	0	GRM6	178348953	1.000000	0.71417	0.588000	0.28705	0.790000	0.44656	3.960000	0.56752	2.518000	0.84900	0.655000	0.94253	GCC	GRM6	-	pfam_ANF_lig-bd_rcpt	ENSG00000113262		0.547	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	60	0.00	0	C			178416347	178416347	-1	no_errors	ENST00000231188	ensembl	human	known	69_37n	missense	62	31.87	29	SNP	1.000	T
HDAC6	10013	genome.wustl.edu	37	X	48682594	48682594	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chrX:48682594A>G	ENST00000334136.5	+	28	3647	c.3469A>G	c.(3469-3471)Atc>Gtc	p.I1157V	HDAC6_ENST00000376619.2_Missense_Mutation_p.I1157V|HDAC6_ENST00000444343.2_Missense_Mutation_p.I1171V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1157					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGGTCGTTACATCAATGGCCA	0.582																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													146.0	104.0	118.0					X																	48682594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3469A>G	X.37:g.48682594A>G	ENSP00000334061:p.Ile1157Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.I1171V	ENST00000334136.5	37	c.3511	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	a	0.412	-0.912813	0.02415	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.39997	1.05;1.05;1.05	5.27	-6.36	0.01969	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.854734	0.10313	N	0.689758	T	0.15003	0.0362	N	0.02103	-0.685	0.29743	N	0.836921	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.43081	-0.9413	10	0.02654	T	1	-7.9118	18.7438	0.91785	0.2437:0.0:0.7563:0.0	.	1147;520;805;1157	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	V	1171;1157;1157	ENSP00000398566:I1171V;ENSP00000334061:I1157V;ENSP00000365804:I1157V	ENSP00000334061:I1157V	I	+	1	0	HDAC6	48567538	0.000000	0.05858	0.000000	0.03702	0.760000	0.43138	-0.455000	0.06762	-1.408000	0.02040	0.237000	0.17872	ATC	HDAC6	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000094631		0.582	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	121	0.00	0	A	NM_006044		48682594	48682594	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	48	44.83	39	SNP	0.002	G
IL18BP	10068	genome.wustl.edu	37	11	71712520	71712520	+	Silent	SNP	G	G	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr11:71712520G>A	ENST00000393703.4	+	5	966	c.429G>A	c.(427-429)ctG>ctA	p.L143L	IL18BP_ENST00000337131.5_Silent_p.L143L|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000260049.5_Silent_p.L143L|IL18BP_ENST00000531053.1_Silent_p.L143L|IL18BP_ENST00000404792.1_Silent_p.L143L|IL18BP_ENST00000393705.4_Silent_p.L143L|IL18BP_ENST00000497194.2_Silent_p.L143L	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	143	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCCTGCCCTGCACAGCACCA	0.632																																						dbGAP											0													37.0	41.0	40.0					11																	71712520		2099	4217	6316	-	-	-	SO:0001819	synonymous_variant	0			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.429G>A	11.37:g.71712520G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Silent	SNP	pfscan_Ig-like	p.L143	ENST00000393703.4	37	c.429	CCDS8206.2	11																																																																																			IL18BP	-	pfscan_Ig-like	ENSG00000137496		0.632	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL18BP	HGNC	protein_coding	OTTHUMT00000258012.2	43	0.00	0	G	NM_173042		71712520	71712520	+1	no_errors	ENST00000260049	ensembl	human	known	69_37n	silent	13	59.38	19	SNP	0.235	A
IL18	3606	genome.wustl.edu	37	11	112020809	112020809	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr11:112020809T>A	ENST00000280357.7	-	4	431	c.212A>T	c.(211-213)gAt>gTt	p.D71V	SDHD_ENST00000532699.1_Intron|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Missense_Mutation_p.D67V|IL18_ENST00000528832.1_Missense_Mutation_p.D71V	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	71					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ACAGTCAGAATCAGTCATATC	0.358																																						dbGAP											0													123.0	119.0	120.0					11																	112020809		1817	4078	5895	-	-	-	SO:0001583	missense	0			U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.212A>T	11.37:g.112020809T>A	ENSP00000280357:p.Asp71Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,pirsf_Interleukin_18,prints_Interleukin_18	p.D71V	ENST00000280357.7	37	c.212	CCDS44731.1	11	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024881	0.54683	.	.	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	.	.	.	4.97	4.97	0.65823	.	0.304499	0.27682	N	0.018281	T	0.73666	0.3616	M	0.74881	2.28	0.33878	D	0.635786	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.994	T	0.82546	-0.0403	9	0.87932	D	0	-21.3636	11.2213	0.48857	0.0:0.0:0.0:1.0	.	67;71;71	Q6WWJ7;Q14116;Q96KJ8	.;IL18_HUMAN;.	V	71;67;71	.	ENSP00000280357:D71V	D	-	2	0	IL18	111526019	0.465000	0.25815	0.549000	0.28204	0.043000	0.13939	3.218000	0.51192	2.212000	0.71576	0.528000	0.53228	GAT	IL18	-	superfamily_Cytokine_IL1-like,pirsf_Interleukin_18	ENSG00000150782		0.358	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL18	HGNC	protein_coding	OTTHUMT00000392409.1	103	0.00	0	T	NM_001562		112020809	112020809	-1	no_errors	ENST00000280357	ensembl	human	known	69_37n	missense	34	52.78	38	SNP	0.160	A
KANSL3	55683	genome.wustl.edu	37	2	97276810	97276810	+	Silent	SNP	G	G	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr2:97276810G>C	ENST00000431828.1	-	10	1228	c.1152C>G	c.(1150-1152)ggC>ggG	p.G384G	KANSL3_ENST00000599854.1_Silent_p.G297G|KANSL3_ENST00000440133.1_Silent_p.G178G|KANSL3_ENST00000441706.2_Silent_p.G297G|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	384					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCCCTCTGGGGCCATCCACAG	0.507																																						dbGAP											0													120.0	126.0	124.0					2																	97276810		2099	4229	6328	-	-	-	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1152C>G	2.37:g.97276810G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.G384	ENST00000431828.1	37	c.1152	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	59	0.00	0	G	NM_017991		97276810	97276810	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	silent	60	17.57	13	SNP	0.779	C
MBD3	53615	genome.wustl.edu	37	19	1585126	1585126	+	Silent	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr19:1585126C>T	ENST00000434436.3	-	2	327	c.198G>A	c.(196-198)acG>acA	p.T66T	AC005943.4_ENST00000592406.1_RNA|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Silent_p.T66T|MBD3_ENST00000592012.1_Silent_p.T34T|MBD3_ENST00000590550.2_Silent_p.T10T	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	66	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCTTGCCCGTGCGGAAGT	0.652																																						dbGAP											0													85.0	58.0	67.0					19																	1585126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.198G>A	19.37:g.1585126C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.T66	ENST00000434436.3	37	c.198	CCDS12072.1	19																																																																																			MBD3	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000071655		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	80	0.00	0	C	NM_003926		1585126	1585126	-1	no_errors	ENST00000156825	ensembl	human	known	69_37n	silent	16	51.52	17	SNP	0.420	T
MCM10	55388	genome.wustl.edu	37	10	13222513	13222513	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr10:13222513T>A	ENST00000484800.2	+	7	942	c.839T>A	c.(838-840)aTc>aAc	p.I280N	MCM10_ENST00000378714.3_Missense_Mutation_p.I279N|MCM10_ENST00000378694.1_Missense_Mutation_p.I279N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	280	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTCTCAGATCAAGGAAAAG	0.443																																						dbGAP											0													143.0	139.0	140.0					10																	13222513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.839T>A	10.37:g.13222513T>A	ENSP00000418268:p.Ile280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.I280N	ENST00000484800.2	37	c.839	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239671	0.79800	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.16597	2.33;2.33;2.33	5.82	5.82	0.92795	.	0.268202	0.38164	N	0.001800	T	0.35508	0.0934	M	0.66297	2.02	0.52501	D	0.999957	P;P;P	0.51653	0.94;0.947;0.913	P;P;P	0.55222	0.564;0.771;0.594	T	0.07731	-1.0757	10	0.87932	D	0	-10.7008	16.1814	0.81903	0.0:0.0:0.0:1.0	.	279;279;280	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	N	279;280;280;279	ENSP00000367986:I279N;ENSP00000418268:I280N;ENSP00000367966:I279N	ENSP00000354945:I280N	I	+	2	0	MCM10	13262519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.537000	0.82033	2.234000	0.73211	0.533000	0.62120	ATC	MCM10	-	NULL	ENSG00000065328		0.443	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	137	0.00	0	T	NM_182751		13222513	13222513	+1	no_errors	ENST00000361282	ensembl	human	known	69_37n	missense	100	27.01	37	SNP	1.000	A
MFHAS1	9258	genome.wustl.edu	37	8	8747876	8747876	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr8:8747876T>C	ENST00000276282.6	-	1	3279	c.2693A>G	c.(2692-2694)tAc>tGc	p.Y898C		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	898										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTGGACACTGTAGCGTGCAAA	0.453																																					Melanoma(103;1201 2045 17515 28966)	dbGAP											0													76.0	75.0	75.0					8																	8747876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2693A>G	8.37:g.8747876T>C	ENSP00000276282:p.Tyr898Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CI0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y898C	ENST00000276282.6	37	c.2693	CCDS34844.1	8	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329980	0.60743	.	.	ENSG00000147324	ENST00000276282	T	0.35236	1.32	5.04	5.04	0.67666	.	0.072162	0.56097	D	0.000038	T	0.36220	0.0959	N	0.22421	0.69	0.41747	D	0.989643	D	0.69078	0.997	P	0.55667	0.781	T	0.22312	-1.0220	10	0.62326	D	0.03	.	9.5218	0.39140	0.157:0.0:0.0:0.843	.	898	Q9Y4C4	MFHA1_HUMAN	C	898	ENSP00000276282:Y898C	ENSP00000276282:Y898C	Y	-	2	0	MFHAS1	8785286	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.848000	0.48278	2.133000	0.65898	0.533000	0.62120	TAC	MFHAS1	-	NULL	ENSG00000147324		0.453	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	57	0.00	0	T	NM_004225		8747876	8747876	-1	no_errors	ENST00000276282	ensembl	human	known	69_37n	missense	44	10.00	5	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49445333	49445333	+	Silent	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGAGTCCTCCGGTGGTGGGG	0.677																																						dbGAP											0													44.0	52.0	49.0					12																	49445333		2039	4188	6227	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2133G>A	12.37:g.49445333C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P711	ENST00000301067.7	37	c.2133	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	56	0.00	0	C			49445333	49445333	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	29	31.82	14	SNP	0.000	T
MMEL1	79258	genome.wustl.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr1:2560819_2560821delCAG	ENST00000378412.3	-	2	264_266	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000502556.1_In_Frame_Del_p.L35del|MMEL1_ENST00000288709.6_In_Frame_Del_p.L26del			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	35						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739																																						dbGAP											0										2,190,3148		0,0,2,18,154,1496						-0.2	0.9			12	5,359,6192		1,0,3,61,237,2976	no	codingComplex	MMEL1	NM_033467.3		1,0,5,79,391,4472	A1A1,A1A2,A1R,A2A2,A2R,RR		5.5522,5.7485,5.6184				7,549,9340				-	-	-	SO:0001651	inframe_deletion	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.103_105delCTG	1.37:g.2560828_2560830delCAG	ENSP00000367668:p.Leu35del	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	In_Frame_Del	DEL	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.L35in_frame_del	ENST00000378412.3	37	c.105_103	CCDS30569.2	1																																																																																			MMEL1	-	NULL	ENSG00000142606		0.739	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	22	0.00	0	CAG	NM_033467		2560819	2560821	-1	no_errors	ENST00000378412	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	0.932:0.974:0.981	-
MTERF3	51001	genome.wustl.edu	37	8	97258550	97258550	+	Silent	SNP	T	T	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr8:97258550T>C	ENST00000287025.3	-	5	908	c.810A>G	c.(808-810)gaA>gaG	p.E270E	MTERFD1_ENST00000524341.1_Silent_p.E80E|MTERFD1_ENST00000522822.1_Silent_p.E149E|MTERFD1_ENST00000523821.1_Silent_p.E270E	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		270					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TCACACTAAGTTCAAGTTCTT	0.378																																						dbGAP											0													71.0	69.0	70.0					8																	97258550		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000287025.3:c.810A>G	8.37:g.97258550T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMG6|G3V130|Q9Y301	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.E270	ENST00000287025.3	37	c.810	CCDS6270.1	8																																																																																			MTERFD1	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	ENSG00000156469		0.378	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD1	HGNC	protein_coding	OTTHUMT00000379876.1	103	0.00	0	T			97258550	97258550	-1	no_errors	ENST00000287025	ensembl	human	known	69_37n	silent	143	22.99	43	SNP	1.000	C
MYH6	4624	genome.wustl.edu	37	14	23855313	23855313	+	Missense_Mutation	SNP	C	C	A	rs200295909		TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr14:23855313C>A	ENST00000356287.3	-	33	5016	c.4987G>T	c.(4987-4989)Gtc>Ttc	p.V1663F	MYH6_ENST00000405093.3_Missense_Mutation_p.V1663F|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1663					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGGCACGGACCGCATCGTCC	0.632																																						dbGAP											0													80.0	63.0	69.0					14																	23855313		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4987G>T	14.37:g.23855313C>A	ENSP00000348634:p.Val1663Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1663F	ENST00000356287.3	37	c.4987	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	6.361	0.434712	0.12045	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78126	-1.15;-1.15	4.05	3.13	0.36017	Myosin tail (1);	.	.	.	.	T	0.68952	0.3057	L	0.44542	1.39	0.19945	N	0.999945	B	0.23316	0.083	B	0.38755	0.281	T	0.57142	-0.7862	9	0.09590	T	0.72	.	3.1143	0.06369	0.1471:0.5447:0.1441:0.1641	.	1663	P13533	MYH6_HUMAN	F	1663	ENSP00000386041:V1663F;ENSP00000348634:V1663F	ENSP00000348634:V1663F	V	-	1	0	MYH6	22925153	0.000000	0.05858	0.430000	0.26722	0.104000	0.19210	-0.801000	0.04550	1.966000	0.57179	0.561000	0.74099	GTC	MYH6	-	pfam_Myosin_tail	ENSG00000197616		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	116	0.00	0	C			23855313	23855313	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	0.024	A
NDUFA9	4704	genome.wustl.edu	37	12	4796146	4796146	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr12:4796146G>A	ENST00000266544.5	+	11	1026	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	NDUFA9_ENST00000540688.1_Missense_Mutation_p.E95K|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	336					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GCCTGGCTTAGAAGACCTTGG	0.488																																					Colon(75;996 1244 23946 25294 29232)	dbGAP											0													102.0	82.0	88.0					12																	4796146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1006G>A	12.37:g.4796146G>A	ENSP00000266544:p.Glu336Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14076|Q2NKX0	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA	p.E336K	ENST00000266544.5	37	c.1006	CCDS8532.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030829	0.75504	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	T;D	0.83591	-1.1;-1.74	5.05	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.85859	2.78	0.58432	D	0.999997	D	0.65815	0.995	P	0.61132	0.884	D	0.89616	0.3845	10	0.41790	T	0.15	-2.4631	13.4779	0.61318	0.0:0.0:0.8428:0.1572	.	336	Q16795	NDUA9_HUMAN	K	336;95	ENSP00000266544:E336K;ENSP00000439818:E95K	ENSP00000266544:E336K	E	+	1	0	NDUFA9	4666407	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	3.892000	0.56235	2.496000	0.84212	0.655000	0.94253	GAA	NDUFA9	-	NULL	ENSG00000139180		0.488	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2	84	0.00	0	G	NM_005002		4796146	4796146	+1	no_errors	ENST00000266544	ensembl	human	known	69_37n	missense	82	40.58	56	SNP	1.000	A
NLRP2	55655	genome.wustl.edu	37	19	55489137	55489137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr19:55489137C>T	ENST00000543010.1	+	4	486	c.343C>T	c.(343-345)Cga>Tga	p.R115*	NLRP2_ENST00000427260.2_Nonsense_Mutation_p.R92*|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.R115*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.R115*|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.R115*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.R115*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	115					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.R115*(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGGAAAGAACGACCACCTCT	0.552																																						dbGAP											1	Substitution - Nonsense(1)	kidney(1)											135.0	111.0	119.0					19																	55489137		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.343C>T	19.37:g.55489137C>T	ENSP00000445135:p.Arg115*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R115*	ENST00000543010.1	37	c.343	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141269	0.21205	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	.	.	.	1.32	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	1.2233	0.01928	0.1635:0.4025:0.1609:0.2731	.	.	.	.	X	115;115;115;115;115;92;115;47	.	ENSP00000263437:R115X	R	+	1	2	NLRP2	60180949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.409000	0.02483	-2.387000	0.00589	-2.841000	0.00105	CGA	NLRP2	-	NULL	ENSG00000022556		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	69	0.00	0	C	NM_017852		55489137	55489137	+1	no_errors	ENST00000448584	ensembl	human	known	69_37n	nonsense	49	36.36	28	SNP	0.000	T
PIKFYVE	200576	genome.wustl.edu	37	2	209136284	209136284	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr2:209136284C>G	ENST00000264380.4	+	2	199	c.41C>G	c.(40-42)gCt>gGt	p.A14G	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.A14G|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.A14G|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.A14G	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	14					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGGACTCTGCTAATGATTTG	0.403																																						dbGAP											0													270.0	258.0	262.0					2																	209136284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.41C>G	2.37:g.209136284C>G	ENSP00000264380:p.Ala14Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.A14G	ENST00000264380.4	37	c.41	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629226	0.46944	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.65916	1.53;-0.18;-0.15;1.71	5.23	5.23	0.72850	.	0.410669	0.25022	N	0.033743	T	0.44912	0.1316	N	0.14661	0.345	0.20074	N	0.999933	B;B;B;B;B	0.20052	0.02;0.041;0.03;0.018;0.03	B;B;B;B;B	0.19391	0.024;0.025;0.015;0.011;0.025	T	0.37820	-0.9689	10	0.46703	T	0.11	-11.5997	11.4588	0.50197	0.0:0.9168:0.0:0.0832	.	14;14;14;14;14	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	G	14	ENSP00000264380:A14G;ENSP00000384356:A14G;ENSP00000414477:A14G;ENSP00000405736:A14G	ENSP00000264380:A14G	A	+	2	0	PIKFYVE	208844529	0.999000	0.42202	0.997000	0.53966	0.896000	0.52359	1.390000	0.34464	2.452000	0.82932	0.655000	0.94253	GCT	PIKFYVE	-	NULL	ENSG00000115020		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	176	0.00	0	C	NM_015040		209136284	209136284	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	125	35.57	69	SNP	0.991	G
PIWIL3	440822	genome.wustl.edu	37	22	25124287	25124287	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr22:25124287A>T	ENST00000332271.5	-	15	2205	c.1789T>A	c.(1789-1791)Tac>Aac	p.Y597N	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y479N|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y479N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	597	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTACATAGGTATCTTTTTATG	0.423																																						dbGAP											0													189.0	174.0	179.0					22																	25124287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1789T>A	22.37:g.25124287A>T	ENSP00000330031:p.Tyr597Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Y597N	ENST00000332271.5	37	c.1789	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330664	0.41297	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.34472	1.36;1.36;1.36	2.71	-1.19	0.09585	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.073844	0.56097	U	0.000029	T	0.47948	0.1473	M	0.76002	2.32	0.45439	D	0.998418	D;P;D	0.69078	0.997;0.518;0.985	D;P;D	0.76071	0.987;0.588;0.949	T	0.41305	-0.9516	10	0.37606	T	0.19	-3.5309	3.0384	0.06130	0.578:0.0:0.2395:0.1825	.	479;588;597	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	597;479;479	ENSP00000330031:Y597N;ENSP00000431843:Y479N;ENSP00000435718:Y479N	ENSP00000330031:Y597N	Y	-	1	0	PIWIL3	23454287	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	4.377000	0.59562	-0.498000	0.06632	-0.669000	0.03829	TAC	PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000184571		0.423	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	133	0.00	0	A	NM_001008496		25124287	25124287	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	missense	154	30.94	69	SNP	1.000	T
PLEKHF2	79666	genome.wustl.edu	37	8	96166631	96166631	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr8:96166631C>T	ENST00000315367.3	+	2	600	c.359C>T	c.(358-360)tCa>tTa	p.S120L	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.S120L	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					ACGGAGAAATCAGAATGGATG	0.398																																						dbGAP											0													109.0	120.0	116.0					8																	96166631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.359C>T	8.37:g.96166631C>T	ENSP00000322373:p.Ser120Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel	p.S120L	ENST00000315367.3	37	c.359	CCDS6267.1	8	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518457	0.44763	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.76060	-0.99;-0.99	6.06	6.06	0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.059227	0.64402	D	0.000001	T	0.64057	0.2564	N	0.14661	0.345	0.80722	D	1	P	0.35383	0.498	B	0.36030	0.216	T	0.62642	-0.6811	10	0.37606	T	0.19	-10.7331	20.6397	0.99537	0.0:1.0:0.0:0.0	.	120	Q9H8W4	PKHF2_HUMAN	L	120	ENSP00000322373:S120L;ENSP00000427792:S120L	ENSP00000322373:S120L	S	+	2	0	PLEKHF2	96235807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.392000	0.66272	2.880000	0.98712	0.650000	0.86243	TCA	PLEKHF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000175895		0.398	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHF2	HGNC	protein_coding	OTTHUMT00000379666.1	54	0.00	0	C	NM_024613		96166631	96166631	+1	no_errors	ENST00000315367	ensembl	human	known	69_37n	missense	49	55.45	61	SNP	1.000	T
PORCN	64840	genome.wustl.edu	37	X	48368217	48368217	+	Silent	SNP	C	C	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chrX:48368217C>A	ENST00000326194.6	+	1	52	c.9C>A	c.(7-9)acC>acA	p.T3T	PORCN_ENST00000361988.3_Silent_p.T3T|PORCN_ENST00000359882.4_Silent_p.T3T|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000355092.3_Silent_p.T3T|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000537758.1_Silent_p.T3T|PORCN_ENST00000355961.4_Silent_p.T3T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	3					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAATGGCCACCTTTAGCCGCC	0.592																																						dbGAP											0													52.0	41.0	45.0					X																	48368217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.9C>A	X.37:g.48368217C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	pfam_MBOAT_fam	p.T3	ENST00000326194.6	37	c.9	CCDS14299.1	X																																																																																			PORCN	-	NULL	ENSG00000102312		0.592	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	55	0.00	0	C	NM_022825		48368217	48368217	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	silent	34	22.73	10	SNP	1.000	A
PPARA	5465	genome.wustl.edu	37	22	46627967	46627967	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr22:46627967G>T	ENST00000396000.2	+	7	1255	c.990G>T	c.(988-990)atG>atT	p.M330I	PPARA_ENST00000407236.1_Missense_Mutation_p.M330I|PPARA_ENST00000402126.1_Missense_Mutation_p.M330I|PPARA_ENST00000262735.5_Missense_Mutation_p.M330I|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	330	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	AAGACGGGATGCTGGTAGCGT	0.423																																						dbGAP											0													178.0	162.0	168.0					22																	46627967		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.990G>T	22.37:g.46627967G>T	ENSP00000379322:p.Met330Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.M330I	ENST00000396000.2	37	c.990	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426090	0.43020	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.126681	0.64402	D	0.000001	D	0.90923	0.7147	N	0.12746	0.255	0.80722	D	1	B;B	0.33103	0.01;0.397	B;B	0.34346	0.014;0.18	D	0.89395	0.3691	10	0.07644	T	0.81	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	111;330	F5H1U1;Q07869	.;PPARA_HUMAN	I	330;330;111;330;330	ENSP00000379322:M330I;ENSP00000262735:M330I;ENSP00000385523:M330I;ENSP00000385246:M330I	ENSP00000262735:M330I	M	+	3	0	PPARA	45006631	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	1.751000	0.38339	2.576000	0.86940	0.655000	0.94253	ATG	PPARA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt	ENSG00000186951		0.423	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	101	0.00	0	G	NM_001001928		46627967	46627967	+1	no_errors	ENST00000262735	ensembl	human	known	69_37n	missense	93	33.57	47	SNP	1.000	T
SCRT2	85508	genome.wustl.edu	37	20	656217	656217	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr20:656217A>T	ENST00000246104.6	-	1	606	c.29T>A	c.(28-30)aTc>aAc	p.I10N	RP5-850E9.3_ENST00000488788.2_Missense_Mutation_p.I10N	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	10	SNAG domain. {ECO:0000250}.				negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GTCCCCTTTGATCTTCTTTAC	0.746																																						dbGAP											0													5.0	7.0	6.0					20																	656217		2132	4177	6309	-	-	-	SO:0001583	missense	0				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.29T>A	20.37:g.656217A>T	ENSP00000246104:p.Ile10Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I10N	ENST00000246104.6	37	c.29	CCDS13006.1	20	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793738	0.50102	.	.	ENSG00000215397	ENST00000246104	T	0.11712	2.75	4.11	3.01	0.34805	.	0.000000	0.64402	U	0.000003	T	0.06826	0.0174	L	0.39898	1.24	0.41585	D	0.988766	P	0.40476	0.718	B	0.28305	0.088	T	0.27872	-1.0061	10	0.87932	D	0	-7.3273	6.1328	0.20215	0.8831:0.0:0.1169:0.0	.	10	Q9NQ03	SCRT2_HUMAN	N	10	ENSP00000246104:I10N	ENSP00000246104:I10N	I	-	2	0	SCRT2	604217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.540000	0.36115	0.634000	0.30469	0.397000	0.26171	ATC	SCRT2	-	NULL	ENSG00000215397		0.746	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT2	HGNC	protein_coding	OTTHUMT00000253383.2	11	0.00	0	A	NM_033129		656217	656217	-1	no_errors	ENST00000246104	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	1.000	T
SLC4A11	83959	genome.wustl.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr20:3209652A>C	ENST00000380056.3	-	16	2119	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G|SLC4A11_ENST00000380059.3_Missense_Mutation_p.V718G|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											2	Substitution - Missense(2)	prostate(2)											87.0	72.0	77.0					20																	3209652		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2072T>G	20.37:g.3209652A>C	ENSP00000369396:p.Val691Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.V718G	ENST00000380056.3	37	c.2153	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199387	0.38806	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79352	-1.26;-1.26;-1.26	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.217595	0.39341	N	0.001385	T	0.81432	0.4821	M	0.83483	2.645	0.80722	D	1	B;P;P	0.42337	0.36;0.587;0.776	B;B;B	0.43052	0.161;0.381;0.406	D	0.84003	0.0344	10	0.51188	T	0.08	.	14.8866	0.70572	1.0:0.0:0.0:0.0	.	675;718;691	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	G	718;691;675	ENSP00000369399:V718G;ENSP00000369396:V691G;ENSP00000441370:V675G	ENSP00000369396:V691G	V	-	2	0	SLC4A11	3157652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	1.989000	0.58080	0.379000	0.24179	GTG	SLC4A11	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk	ENSG00000088836		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	57	0.00	0	A			3209652	3209652	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	missense	37	22.45	11	SNP	1.000	C
SSBP2	23635	genome.wustl.edu	37	5	81046829	81046829	+	Silent	SNP	G	G	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr5:81046829G>C	ENST00000320672.4	-	1	243	c.33C>G	c.(31-33)gcC>gcG	p.A11A	SSBP2_ENST00000505980.1_Silent_p.A11A|SSBP2_ENST00000514493.1_Silent_p.A11A|SSBP2_ENST00000509053.1_Silent_p.A11A|SSBP2_ENST00000515395.1_Silent_p.A11A	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	11					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CGGACGGGACGGCGCTGCTGT	0.637																																						dbGAP											0													193.0	119.0	144.0					5																	81046829		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.33C>G	5.37:g.81046829G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Silent	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.A11	ENST00000320672.4	37	c.33	CCDS4056.1	5																																																																																			SSBP2	-	prints_SSDP_DNA-bd	ENSG00000145687		0.637	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	68	0.00	0	G	NM_012446		81046829	81046829	-1	no_errors	ENST00000320672	ensembl	human	known	69_37n	silent	47	27.27	18	SNP	1.000	C
TRPM6	140803	genome.wustl.edu	37	9	77339648	77339648	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr9:77339648C>T	ENST00000360774.1	-	39	6187	c.5950G>A	c.(5950-5952)Gac>Aac	p.D1984N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D1979N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1979N|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1988N|TRPM6_ENST00000376871.3_Missense_Mutation_p.D821N|TRPM6_ENST00000376872.3_Missense_Mutation_p.D939N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1984					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGGAATAGTCATTTCTTTTT	0.418																																						dbGAP											0													93.0	97.0	96.0					9																	77339648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5950G>A	9.37:g.77339648C>T	ENSP00000354006:p.Asp1984Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D1988N	ENST00000360774.1	37	c.5962	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244783	0.79912	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	5.69	3.86	0.44501	Protein kinase-like domain (1);	0.113137	0.64402	N	0.000019	T	0.24736	0.0600	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.67145	0.995;0.996;0.996;0.958;0.975;0.975	D;P;P;B;P;P	0.62955	0.909;0.888;0.87;0.413;0.617;0.617	T	0.00824	-1.1551	10	0.72032	D	0.01	.	11.9796	0.53113	0.0:0.8586:0.0:0.1414	.	531;817;935;1984;1979;1979	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	N	1984;1988;939;821;1979;1979;530	ENSP00000354006:D1984N;ENSP00000407341:D1988N;ENSP00000366068:D939N;ENSP00000366067:D821N;ENSP00000396672:D1979N;ENSP00000354962:D1979N	ENSP00000354006:D1984N	D	-	1	0	TRPM6	76529468	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	2.139000	0.42149	0.769000	0.33313	0.655000	0.94253	GAC	TRPM6	-	superfamily_Kinase-like_dom	ENSG00000119121		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	126	0.00	0	C	NM_017662		77339648	77339648	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	82	20.19	21	SNP	1.000	T
TLE1	7088	genome.wustl.edu	37	9	84202743	84202743	+	Splice_Site	SNP	C	C	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr9:84202743C>A	ENST00000376499.3	-	17	2894	c.1830G>T	c.(1828-1830)agG>agT	p.R610S		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	610					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCTGGAATTGCCTGATAAAAC	0.478																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	dbGAP											0													70.0	70.0	70.0					9																	84202743		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1830-1G>T	9.37:g.84202743C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R610S	ENST00000376499.3	37	c.1830	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	c	28.2	4.897760	0.91962	.	.	ENSG00000196781	ENST00000376499	T	0.60171	0.21	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.39326	1.205	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.91635	0.971;0.999	T	0.72686	-0.4218	10	0.87932	D	0	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	595;610	B4DEF9;Q04724	.;TLE1_HUMAN	S	610	ENSP00000365682:R610S	ENSP00000365682:R610S	R	-	3	2	TLE1	83392563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.008000	0.70739	2.675000	0.91044	0.655000	0.94253	AGG	TLE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196781		0.478	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	55	0.00	0	C	NM_005077	Missense_Mutation	84202743	84202743	-1	no_errors	ENST00000376499	ensembl	human	known	69_37n	missense	33	52.86	37	SNP	1.000	A
UGT2A1	10941	genome.wustl.edu	37	4	70460341	70460341	+	Silent	SNP	G	G	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr4:70460341G>C	ENST00000503640.1	-	5	1213	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V	UGT2A1_ENST00000512704.1_Silent_p.V342V|UGT2A1_ENST00000286604.4_Silent_p.V386V|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.V552V|UGT2A2_ENST00000457664.2_Silent_p.V395V	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	386					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCACCATAGGGACTCCGTGGT	0.453																																						dbGAP											0													97.0	84.0	88.0					4																	70460341		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1158C>G	4.37:g.70460341G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V395	ENST00000503640.1	37	c.1185	CCDS3529.1	4																																																																																			UGT2A1	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000173610		0.453	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	112	0.00	0	G	NM_006798		70460341	70460341	-1	no_errors	ENST00000457664	ensembl	human	known	69_37n	silent	109	33.94	56	SNP	0.981	C
USH1G	124590	genome.wustl.edu	37	17	72916430	72916430	+	Silent	SNP	G	G	A	rs141688757	byFrequency	TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr17:72916430G>A	ENST00000319642.1	-	2	683	c.501C>T	c.(499-501)cgC>cgT	p.R167R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	167					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGCCAGCTCGCGCCGGTATC	0.701																																						dbGAP											0													49.0	37.0	41.0					17																	72916430		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.501C>T	17.37:g.72916430G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R167	ENST00000319642.1	37	c.501	CCDS32725.1	17																																																																																			USH1G	-	NULL	ENSG00000182040		0.701	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	33	0.00	0	G	NM_173477		72916430	72916430	-1	no_errors	ENST00000319642	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	1.000	A
XPO6	23214	genome.wustl.edu	37	16	28177893	28177893	+	Silent	SNP	A	A	C	rs373046289		TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr16:28177893A>C	ENST00000304658.5	-	6	1079	c.579T>G	c.(577-579)acT>acG	p.T193T	XPO6_ENST00000565698.1_Silent_p.T179T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	193					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGTCCCAGACAGTCTCCAAGA	0.433																																						dbGAP											0													43.0	46.0	45.0					16																	28177893		1936	4130	6066	-	-	-	SO:0001819	synonymous_variant	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.579T>G	16.37:g.28177893A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.T193	ENST00000304658.5	37	c.579	CCDS42135.1	16																																																																																			XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000169180		0.433	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	75	0.00	0	A	XM_055195		28177893	28177893	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	silent	39	50.00	39	SNP	1.000	C
ZFPM2	23414	genome.wustl.edu	37	8	106815010	106815010	+	Silent	SNP	C	C	T			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr8:106815010C>T	ENST00000407775.2	+	8	2950	c.2700C>T	c.(2698-2700)agC>agT	p.S900S	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.S768S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.S631S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.S768S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	900					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCCAGAAAGCGAACGAAACA	0.443																																						dbGAP											0													47.0	46.0	46.0					8																	106815010		1934	4142	6076	-	-	-	SO:0001819	synonymous_variant	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2700C>T	8.37:g.106815010C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S900	ENST00000407775.2	37	c.2700	CCDS47908.1	8																																																																																			ZFPM2	-	NULL	ENSG00000169946		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	54	0.00	0	C			106815010	106815010	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	silent	74	18.48	17	SNP	0.537	T
ZNF445	353274	genome.wustl.edu	37	3	44488743	44488743	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr3:44488743C>A	ENST00000396077.2	-	8	2767	c.2420G>T	c.(2419-2421)cGa>cTa	p.R807L	ZNF445_ENST00000425708.2_Missense_Mutation_p.R807L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	807					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R807Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTCTGATGTCGGTAGAGATT	0.443																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											72.0	71.0	71.0					3																	44488743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2420G>T	3.37:g.44488743C>A	ENSP00000379387:p.Arg807Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R807L	ENST00000396077.2	37	c.2420	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	c	17.95	3.514195	0.64522	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.28454	1.61;1.61	3.61	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.399171	0.18624	N	0.135786	T	0.39835	0.1093	L	0.43923	1.385	0.26860	N	0.967976	D;D	0.60575	0.988;0.988	P;P	0.61658	0.892;0.892	T	0.08659	-1.0711	10	0.27785	T	0.31	.	10.9073	0.47088	0.1885:0.8115:0.0:0.0	.	795;807	B7ZKX2;P59923	.;ZN445_HUMAN	L	807	ENSP00000413073:R807L;ENSP00000379387:R807L	ENSP00000379387:R807L	R	-	2	0	ZNF445	44463747	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.322000	0.02695	2.323000	0.78572	0.457000	0.33378	CGA	ZNF445	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185219		0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	79	0.00	0	C	NM_181489		44488743	44488743	-1	no_errors	ENST00000396077	ensembl	human	known	69_37n	missense	43	42.67	32	SNP	0.994	A
ZNF721	170960	genome.wustl.edu	37	4	436212	436212	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A1KT-01A-11D-A13L-09	TCGA-AO-A1KT-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	97b33dc3-6a62-419a-aa6c-cb84c9f92102	f5386f22-b79a-48ba-b98d-8110ae94009b	g.chr4:436212T>C	ENST00000338977.5	-	2	2056	c.2008A>G	c.(2008-2010)Ata>Gta	p.I670V	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I682V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCAGGGCTATGGACCATCCA	0.413																																						dbGAP											0													119.0	124.0	122.0					4																	436212		2071	4240	6311	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2008A>G	4.37:g.436212T>C	ENSP00000340524:p.Ile670Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I682V	ENST00000338977.5	37	c.2044		4	.	.	.	.	.	.	.	.	.	.	T	4.937	0.174178	0.09391	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07327	3.2;3.2	0.701	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.16708	0.43	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39165	-0.9627	9	0.66056	D	0.02	.	3.8781	0.09066	0.3177:0.0:0.0:0.6822	.	670;682;682	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	670;682	ENSP00000340524:I670V;ENSP00000428878:I682V	ENSP00000340524:I670V	I	-	1	0	ZNF721	426212	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.430000	0.06973	-0.489000	0.06716	0.155000	0.16302	ATA	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	185	0.00	0	T	NM_133474		436212	436212	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	144	29.61	61	SNP	0.000	C
