#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_CAF	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
ARHGAP6	395	genome.wustl.edu	37	X	11157087	11157087	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:11157087G>A	ENST00000337414.4	-	13	3693	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R738C|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R738C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	941					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCCCAGGCGCGGACTGTCC	0.677																																							0											0													15.0	10.0	12.0					X																	11157087		2174	4246	6420	SO:0001583	missense	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2821C>T	X.37:g.11157087G>A	ENSP00000338967:p.Arg941Cys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R941C	ENST00000337414.4	37	c.2821	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168946	0.38315	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.21361	2.02;2.02;2.01	5.35	-0.293	0.12835	.	1.295940	0.05581	N	0.572816	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	P;P	0.47302	0.893;0.893	B;B	0.31547	0.132;0.132	T	0.31861	-0.9928	10	0.59425	D	0.04	.	8.9893	0.36014	0.0:0.0788:0.5215:0.3997	.	941;941	O43182;A8KAL3	RHG06_HUMAN;.	C	738;738;941	ENSP00000370112:R738C;ENSP00000302312:R738C;ENSP00000338967:R941C	ENSP00000302312:R738C	R	-	1	0	ARHGAP6	11067008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.820000	0.27323	-0.437000	0.07243	-0.315000	0.08773	CGC	0	NULL		0.677	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	protein_coding	OTTHUMT00000055760.2	20	24	0	0.00	0	0	G	NM_013427	0	0		11157087	-1	no_errors	ENST00000337414	ensembl	human	known	74_37	missense	26	23	10.34	23.33	3	7	SNP	0.002	A
ARMCX4	100131755	genome.wustl.edu	37	X	100747599	100747599	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:100747599G>A	ENST00000423738.3	+	2	4225	c.4023G>A	c.(4021-4023)atG>atA	p.M1341I		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						GAGGGTCAATGTTGGGGCCTG	0.597																																							0											0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4023G>A	X.37:g.100747599G>A	ENSP00000404304:p.Met1341Ile		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.M1341I	ENST00000423738.3	37	c.4023	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	4.757	0.140688	0.09083	.	.	ENSG00000196440	ENST00000423738	.	.	.	4.03	1.2	0.21068	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	7.8802	0.29618	0.3051:0.0:0.6949:0.0	.	.	.	.	I	1445	.	.	M	+	3	0	ARMCX4	100634255	0.145000	0.22656	0.000000	0.03702	0.780000	0.44128	0.521000	0.22893	0.012000	0.14892	0.271000	0.19318	ATG	0	NULL		0.597	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	protein_coding	OTTHUMT00000370455.2	60	127	0	0.00	0	0	G	NM_001256155	0	0		100747599	1	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	74	129	11.9	9.15	10	13	SNP	0	A
HAUS7	55559	genome.wustl.edu	37	X	152722559	152722559	+	Intron	SNP	G	G	A	rs377562227		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:152722559G>A	ENST00000370211.4	-	5	520				HAUS7_ENST00000421080.2_Intron|HAUS7_ENST00000484394.1_Intron|TREX2_ENST00000370232.1_Intron|TREX2_ENST00000338525.2_Intron|HAUS7_ENST00000370212.3_Intron|TREX2_ENST00000330912.2_Intron|TREX2_ENST00000334497.2_Intron	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						AGAGAAGCCCGTCAATACTGC	0.597																																							0											0								G		0,3835		0,0,0,1632,571	74.0	58.0	63.0			-4.6	0.0	X		63	2,6726		0,1,1,2427,1871	no	intron	HAUS7	NM_017518.6		0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189			152722559	2,10561	2203	4300	6503	SO:0001627	intron_variant	0			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.476+35C>T	X.37:g.152722559G>A			B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	RNA	SNP	0	NULL	ENST00000370211.4	37	NULL	CCDS35438.1	X																																																																																			0	0		0.597	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	protein_coding	OTTHUMT00000060963.2	45	198	2.17	0.00	1	0	G	NM_017518	rs377562227	G->A		152722559	-1	no_errors	ENST00000464993	ensembl	human	known	74_37	rna	56	180	12.5	9.55	8	19	SNP	0	A
MECP2	4204	genome.wustl.edu	37	X	153296828	153296828	+	Missense_Mutation	SNP	C	C	T	rs61748402		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:153296828C>T	ENST00000303391.6	-	4	700	c.451G>A	c.(451-453)Gac>Aac	p.D151N	MECP2_ENST00000407218.1_Intron|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.D163N	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	151	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTAGGGTCCAGGGATGTG	0.522																																							0											0			GRCh37	CD012694	MECP2	D	rs61748402						77.0	73.0	75.0					X																	153296828		2203	4300	6503	SO:0001583	missense	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.451G>A	X.37:g.153296828C>T	ENSP00000301948:p.Asp151Asn		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.D151N	ENST00000303391.6	37	c.451	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604446	0.66445	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.96685	-4.09;-4.09	5.24	5.24	0.73138	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	N	0.20574	0.59	0.80722	D	1	B;B	0.31077	0.262;0.307	B;B	0.41646	0.312;0.362	D	0.92386	0.5917	10	0.30854	T	0.27	-17.2421	16.5773	0.84705	0.0:1.0:0.0:0.0	.	163;151	P51608-2;P51608	.;MECP2_HUMAN	N	151;151;163;151	ENSP00000301948:D151N;ENSP00000395535:D163N	ENSP00000301948:D151N	D	-	1	0	MECP2	152950022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	2.172000	0.68678	0.600000	0.82982	GAC	0	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd		0.522	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	protein_coding	OTTHUMT00000061144.1	14	210	0	0.00	0	0	C	NM_004992	0	0		153296828	-1	no_errors	ENST00000303391	ensembl	human	known	74_37	missense	29	186	17.14	10.10	6	21	SNP	1	T
TAS1R1	80835	genome.wustl.edu	37	1	6638782	6638782	+	Missense_Mutation	SNP	G	G	A	rs142426315		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:6638782G>A	ENST00000333172.6	+	6	1857	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A444T|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R301H	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	555					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCTTCCCGCGCACTGTGGTG	0.577																																							0											0													71.0	68.0	69.0					1																	6638782		2203	4300	6503	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1664G>A	1.37:g.6638782G>A	ENSP00000331867:p.Arg555His		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.R555H	ENST00000333172.6	37	c.1664	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.213793|3.213793	0.58452|0.58452	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000328191|ENST00000333172;ENST00000437392;ENST00000351136	D|D;D	0.92199|0.91792	-2.99|-2.55;-2.91	5.04|5.04	4.12|4.12	0.48240|0.48240	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96103|0.96103	0.8730|0.8730	M|M	0.89095|0.89095	3.005|3.005	0.23287|0.23287	N|N	0.997978|0.997978	P|D;D	0.49253|0.89917	0.921|1.0;1.0	B|D;D	0.42422|0.91635	0.387|0.998;0.999	D|D	0.89985|0.89985	0.4103|0.4103	9|10	0.23891|0.87932	T|D	0.37|0	.|.	11.9663|11.9663	0.53038|0.53038	0.0834:0.0:0.9166:0.0|0.0834:0.0:0.9166:0.0	.|.	444|301;555	Q7RTX1-3|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	T|H	444|555;223;301	ENSP00000327705:A444T|ENSP00000331867:R555H;ENSP00000312558:R301H	ENSP00000327705:A444T|ENSP00000331867:R555H	A|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561369|6561369	1.000000|1.000000	0.71417|0.71417	0.678000|0.678000	0.29963|0.29963	0.367000|0.367000	0.29736|0.29736	6.572000|6.572000	0.74005|0.74005	2.310000|2.310000	0.77875|0.77875	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	NULL		0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	24	93	0	0.00	0	0	G		0	0		6638782	1	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	26	61	27.78	29.21	10	26	SNP	0.886	A
TRIM46	80128	genome.wustl.edu	37	1	155149536	155149536	+	Silent	SNP	C	C	G			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:155149536C>G	ENST00000334634.4	+	4	798	c.798C>G	c.(796-798)gcC>gcG	p.A266A	TRIM46_ENST00000543729.1_Silent_p.A273A|TRIM46_ENST00000368383.3_Silent_p.A266A|TRIM46_ENST00000368382.1_Silent_p.A243A|TRIM46_ENST00000368385.4_Silent_p.A266A|TRIM46_ENST00000392451.2_Silent_p.A266A|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Silent_p.A140A|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	266						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTCAGTGCCTACCAGGCCC	0.587											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													94.0	94.0	94.0					1																	155149536		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.798C>G	1.37:g.155149536C>G		1768	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A266	ENST00000334634.4	37	c.798	CCDS1097.1	1																																																																																			0	NULL		0.587	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	protein_coding	OTTHUMT00000086728.1	42	213	0	0.00	0	0	C	NM_025058	0	0		155149536	1	no_errors	ENST00000334634	ensembl	human	known	74_37	silent	45	243	26.23	20.52	16	63	SNP	1	G
ASTN1	460	genome.wustl.edu	37	1	176992587	176992587	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:176992587G>A	ENST00000367654.3	-	7	1602	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A464V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A464V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A464V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	464	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCCGCCGGGCACAGAGGTC	0.627																																							0											0													30.0	28.0	29.0					1																	176992587		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1391C>T	1.37:g.176992587G>A	ENSP00000356626:p.Ala464Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A464V	ENST00000367654.3	37	c.1391		1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899740	0.91962	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17854	2.25;2.66;2.67;2.25	5.91	5.91	0.95273	Epidermal growth factor-like (1);	0.050404	0.85682	D	0.000000	T	0.19327	0.0464	N	0.14661	0.345	0.58432	D	0.999996	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.48982	0.597;0.597;0.597	T	0.01617	-1.1311	10	0.72032	D	0.01	-30.5436	19.8914	0.96931	0.0:0.0:1.0:0.0	.	464;464;464	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	464	ENSP00000356629:A464V;ENSP00000354536:A464V;ENSP00000356626:A464V;ENSP00000395041:A464V	ENSP00000354536:A464V	A	-	2	0	ASTN1	175259210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.634000	0.67833	2.813000	0.96785	0.655000	0.94253	GCC	0	smart_EG-like_dom		0.627	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		25	70	0	0.00	0	0	G	NM_004319	0	0		176992587	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	36	93	14.29	12.26	6	13	SNP	1	A
SWT1	54823	genome.wustl.edu	37	1	185191111	185191111	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:185191111G>A	ENST00000367500.4	+	15	2417	c.2252G>A	c.(2251-2253)aGg>aAg	p.R751K	SWT1_ENST00000367501.3_Missense_Mutation_p.R751K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	751										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAACCCAGCAGGCATCAAGAA	0.343																																							0											0													154.0	164.0	160.0					1																	185191111		2203	4300	6503	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2252G>A	1.37:g.185191111G>A	ENSP00000356470:p.Arg751Lys		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.R751K	ENST00000367500.4	37	c.2252	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296900	0.60086	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.23950	1.88;1.88	5.43	5.43	0.79202	.	0.114561	0.64402	D	0.000011	T	0.36663	0.0975	L	0.29908	0.895	0.33058	D	0.533673	D	0.69078	0.997	D	0.72625	0.978	T	0.47045	-0.9147	10	0.59425	D	0.04	.	11.4967	0.50413	0.0837:0.0:0.9163:0.0	.	751	Q5T5J6	SWT1_HUMAN	K	751	ENSP00000356471:R751K;ENSP00000356470:R751K	ENSP00000356470:R751K	R	+	2	0	SWT1	183457734	1.000000	0.71417	0.954000	0.39281	0.397000	0.30659	2.217000	0.42880	2.538000	0.85594	0.591000	0.81541	AGG	0	NULL		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	protein_coding	OTTHUMT00000085790.1	47	265	0	0.00	0	0	G	NM_017673	0	0		185191111	1	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	69	382	13.75	11.32	11	49	SNP	0.997	A
OBSCN	84033	genome.wustl.edu	37	1	228466566	228466566	+	Silent	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:228466566C>T	ENST00000422127.1	+	26	7080	c.7036C>T	c.(7036-7038)Ctg>Ttg	p.L2346L	RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L1193L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L2346L|OBSCN_ENST00000570156.2_Silent_p.L2775L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2346	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACCGCAAGCTGATCATCAG	0.622																																							0											0													56.0	61.0	59.0					1																	228466566		2162	4264	6426	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7036C>T	1.37:g.228466566C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.L2346	ENST00000422127.1	37	c.7036	CCDS58065.1	1																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		25	79	0	1.25	0	1	C	NM_052843	0	0		228466566	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	25	126	16.67	7.35	5	10	SNP	1	T
ATP6V1A	523	genome.wustl.edu	37	3	113497642	113497642	+	Silent	SNP	A	A	G			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr3:113497642A>G	ENST00000273398.3	+	2	150	c.42A>G	c.(40-42)aaA>aaG	p.K14K	ATP6V1A_ENST00000538620.1_5'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	14					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ATGAAGATAAAGAAAGCACAT	0.284																																							0											0													60.0	62.0	61.0					3																	113497642		2203	4298	6501	SO:0001819	synonymous_variant	0			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.42A>G	3.37:g.113497642A>G			B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.K14	ENST00000273398.3	37	c.42	CCDS2976.1	3																																																																																			0	superfamily_ATPase_F1_a/bsu_N		0.284	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	protein_coding	OTTHUMT00000354457.1	196	238	0	0.00	0	0	A	NM_001690	0	0		113497642	1	no_errors	ENST00000273398	ensembl	human	known	74_37	silent	147	130	29.33	30.85	61	58	SNP	0.939	G
CCDC158	339965	genome.wustl.edu	37	4	77317601	77317601	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:77317601T>C	ENST00000388914.3	-	3	261	c.109A>G	c.(109-111)Aca>Gca	p.T37A	CCDC158_ENST00000434846.2_Missense_Mutation_p.T37A|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	37										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAATTATTGTACCACGAATA	0.318																																							0											0													66.0	63.0	64.0					4																	77317601		1814	4082	5896	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.109A>G	4.37:g.77317601T>C	ENSP00000373566:p.Thr37Ala		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.T37A	ENST00000388914.3	37	c.109	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761530	0.31228	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.35236	1.42;1.32	5.94	1.72	0.24424	.	0.287705	0.25027	N	0.033704	T	0.13329	0.0323	N	0.02539	-0.55	0.25205	N	0.990025	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.21109	-1.0255	10	0.30854	T	0.27	.	7.9161	0.29818	0.0:0.2694:0.0:0.7306	.	37;37	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	A	37	ENSP00000373566:T37A;ENSP00000401742:T37A	ENSP00000316815:T37A	T	-	1	0	CCDC158	77536625	0.998000	0.40836	0.992000	0.48379	0.855000	0.48748	0.664000	0.25068	0.477000	0.27464	0.455000	0.32223	ACA	0	NULL		0.318	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	protein_coding	OTTHUMT00000362694.2	95	269	0	0.00	0	0	T	NM_001042784	0	0		77317601	-1	no_errors	ENST00000388914	ensembl	human	known	74_37	missense	117	203	7.14	15.77	9	38	SNP	0.961	C
TRMT10A	93587	genome.wustl.edu	37	4	100478534	100478534	+	Missense_Mutation	SNP	C	C	T	rs149241895	byFrequency	TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:100478534C>T	ENST00000273962.3	-	4	700	c.388G>A	c.(388-390)Gca>Aca	p.A130T	TRMT10A_ENST00000394877.3_Missense_Mutation_p.A130T|TRMT10A_ENST00000394876.2_Missense_Mutation_p.A130T	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	130	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CGGTTTTCTGCGTAACATCGT	0.348													C|||	2	0.000399361	0.0	0.0	5008	,	,		16837	0.0		0.0	False		,,,				2504	0.002						0.9996,0.0003994											0								C	THR/ALA,THR/ALA,THR/ALA	0,4406	2.1+/-5.4	0,0,2203	107.0	101.0	103.0		388,388,388	4.5	1.0	4	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	RG9MTD2	NM_001134665.1,NM_001134666.1,NM_152292.4	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	130/340,130/340,130/340	100478534	1,13005	2203	4300	6503	SO:0001583	missense	0			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.388G>A	4.37:g.100478534C>T	ENSP00000273962:p.Ala130Thr		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.A130T	ENST00000273962.3	37	c.388	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882153	0.51908	0.0	1.16E-4	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.33	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.45581	1.43	0.53688	D	0.999978	P	0.47191	0.891	B	0.37508	0.252	T	0.03068	-1.1076	10	0.30854	T	0.27	-15.8804	15.4643	0.75387	0.1398:0.8602:0.0:0.0	.	130	Q8TBZ6	RG9D2_HUMAN	T	130	ENSP00000378343:A130T;ENSP00000273962:A130T;ENSP00000378342:A130T;ENSP00000397551:A130T;ENSP00000423628:A130T	ENSP00000273962:A130T	A	-	1	0	RG9MTD2	100697557	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	4.866000	0.63005	1.459000	0.47892	-0.181000	0.13052	GCA	0	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	protein_coding	OTTHUMT00000253668.1	58	226	0	0.00	0	0	C	NM_152292	rs149241895	C->T		100478534	-1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	53	169	10.17	18.36	6	38	SNP	1	T
RAPGEF6	51735	genome.wustl.edu	37	5	130815362	130815362	+	Missense_Mutation	SNP	C	C	A	rs182045582		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:130815362C>A	ENST00000509018.1	-	16	2130	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R642L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R642L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R357L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.R642L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R642L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R642L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R692L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	642					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATAGAATGGCGATTACTTTT	0.358																																					Melanoma(168;435 1955 13113 13877 23213)		0											0													171.0	164.0	166.0					5																	130815362		2203	4300	6503	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1925G>T	5.37:g.130815362C>A	ENSP00000421684:p.Arg642Leu		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R642L	ENST00000509018.1	37	c.1925	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.223563	0.95139	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.30182	1.67;1.62;1.6;1.68;1.56;1.54;2.1;1.77	5.91	5.91	0.95273	Ras guanine nucleotide exchange factor, domain (1);	0.057616	0.64402	D	0.000001	T	0.58807	0.2148	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;1.0;1.0;0.986;0.997	D;D;D;D;D;P;D	0.87578	0.983;0.952;0.988;0.998;0.993;0.851;0.972	T	0.58387	-0.7645	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	642;642;642;357;692;642;642	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	642;642;642;642;642;357;642;642;692	ENSP00000421684:R642L;ENSP00000309298:R642L;ENSP00000426081:R642L;ENSP00000296859:R642L;ENSP00000426910:R357L;ENSP00000311419:R642L;ENSP00000425389:R642L;ENSP00000426948:R692L	ENSP00000426948:R692L	R	-	2	0	RAPGEF6;FNIP1	130843261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.793000	0.96121	0.655000	0.94253	CGC	0	superfamily_Ras_GEF_dom		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	protein_coding	OTTHUMT00000370059.1	79	273	0	0.00	0	0	C	NM_016340	0	0		130815362	-1	no_errors	ENST00000509018	ensembl	human	known	74_37	missense	80	248	15.79	11.43	15	32	SNP	1	A
PCDHGA4	56111	genome.wustl.edu	37	5	140736822	140736822	+	Silent	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:140736822C>T	ENST00000571252.1	+	1	2055	c.2055C>T	c.(2053-2055)gaC>gaT	p.D685D	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	685					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCCAGACGACTCGGGCC	0.617																																							0											0													37.0	41.0	40.0					5																	140736822		2192	4296	6488	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2055C>T	5.37:g.140736822C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D685	ENST00000571252.1	37	c.2055	CCDS58979.1	5																																																																																			0	NULL		0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	30	60	0	0.00	0	0	C	NM_018917	0	0		140736822	1	no_errors	ENST00000571252	ensembl	human	known	74_37	silent	44	45	12	13.46	6	7	SNP	0	T
SH3PXD2B	285590	genome.wustl.edu	37	5	171766742	171766742	+	Missense_Mutation	SNP	T	T	G			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:171766742T>G	ENST00000311601.5	-	13	1537	c.1367A>C	c.(1366-1368)gAg>gCg	p.E456A	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	456					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGTGTTGTTCTCCAGCGCTGC	0.642																																							0											0													46.0	49.0	48.0					5																	171766742		2203	4300	6503	SO:0001583	missense	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1367A>C	5.37:g.171766742T>G	ENSP00000309714:p.Glu456Ala		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.E456A	ENST00000311601.5	37	c.1367	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	T	9.260	1.043017	0.19748	.	.	ENSG00000174705	ENST00000311601	T	0.62498	0.02	5.93	5.93	0.95920	.	0.385213	0.26116	N	0.026253	T	0.56277	0.1974	L	0.58101	1.795	0.43199	D	0.995042	B	0.34015	0.435	B	0.27887	0.084	T	0.55617	-0.8113	9	.	.	.	-25.9654	14.335	0.66584	0.0:0.0:0.0:1.0	.	456	A1X283	SPD2B_HUMAN	A	456	ENSP00000309714:E456A	.	E	-	2	0	SH3PXD2B	171699347	0.177000	0.23109	0.512000	0.27736	0.009000	0.06853	1.836000	0.39191	2.271000	0.75665	0.459000	0.35465	GAG	0	NULL		0.642	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	25	84	0	0.00	0	0	T	NM_017963	0	0		171766742	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	missense	32	74	8.57	10.84	3	9	SNP	0.997	G
VPS13B	157680	genome.wustl.edu	37	8	100115327	100115327	+	Missense_Mutation	SNP	C	C	T	rs367561688		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr8:100115327C>T	ENST00000358544.2	+	5	670	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	VPS13B_ENST00000441350.2_Missense_Mutation_p.R187C|VPS13B_ENST00000355155.1_Missense_Mutation_p.R187C|VPS13B_ENST00000357162.2_Missense_Mutation_p.R187C|VPS13B_ENST00000395996.1_Missense_Mutation_p.R187C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	187					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTATGGGATCGTGCATTCAT	0.333																																					Colon(161;2205 2542 7338 31318)		0											0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	157.0	146.0	150.0		559,559,559,559	5.9	1.0	8		150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VPS13B	NM_015243.2,NM_017890.3,NM_152564.3,NM_181661.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/864,187/4023,187/3998,187/416	100115327	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.559C>T	8.37:g.100115327C>T	ENSP00000351346:p.Arg187Cys		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R187C	ENST00000358544.2	37	c.559	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.325243|4.325243	0.81580|0.81580	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132549|ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350|ENST00000524330	T;T;T;T;D|.	0.83914|.	-1.21;-0.5;-0.5;-0.22;-1.78|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.065415|.	0.64402|.	D|.	0.000020|.	T|T	0.69324|0.69324	0.3098|0.3098	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999;0.995|.	P;P;P;P;P|.	0.62014|.	0.897;0.72;0.804;0.851;0.711|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.66056|.	D|.	0.02|.	.|.	15.1139|15.1139	0.72384|0.72384	0.1415:0.8585:0.0:0.0|0.1415:0.8585:0.0:0.0	.|.	187;187;187;187;187|.	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5|.	.;VP13B_HUMAN;.;.;.|.	C|L	187|14	ENSP00000347281:R187C;ENSP00000349685:R187C;ENSP00000351346:R187C;ENSP00000379318:R187C;ENSP00000398472:R187C|.	ENSP00000347281:R187C|.	R|S	+|+	1|2	0|0	VPS13B|VPS13B	100184503|100184503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.372000|3.372000	0.52387|0.52387	2.812000|2.812000	0.96745|0.96745	0.557000|0.557000	0.71058|0.71058	CGT|TCG	0	NULL		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	34	227	0	0.44	0	1	C	NM_184042	rs367561688	C->T		100115327	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	66	255	13.16	11.42	10	33	SNP	1	T
CER1	9350	genome.wustl.edu	37	9	14720321	14720321	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr9:14720321C>T	ENST00000380911.3	-	2	615	c.571G>A	c.(571-573)Ggg>Agg	p.G191R		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	191	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGAACAGACCCGCATTTCCCA	0.463																																							0											0													90.0	77.0	81.0					9																	14720321		2203	4300	6503	SO:0001583	missense	0			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.571G>A	9.37:g.14720321C>T	ENSP00000370297:p.Gly191Arg		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C	p.G191R	ENST00000380911.3	37	c.571	CCDS6476.1	9	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733652	0.30684	.	.	ENSG00000147869	ENST00000380911	T	0.29397	1.57	5.52	2.13	0.27403	DAN (1);Cystine knot, C-terminal (2);	0.613165	0.16357	N	0.217960	T	0.17704	0.0425	L	0.41824	1.3	0.22435	N	0.999102	P	0.42296	0.775	B	0.34138	0.176	T	0.09773	-1.0659	10	0.23302	T	0.38	-9.6661	5.5803	0.17247	0.0:0.4781:0.0:0.5219	.	191	O95813	CER1_HUMAN	R	191	ENSP00000370297:G191R	ENSP00000370297:G191R	G	-	1	0	CER1	14710321	0.406000	0.25344	0.163000	0.22734	0.685000	0.39939	0.747000	0.26290	0.791000	0.33826	0.655000	0.94253	GGG	0	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C		0.463	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CER1	protein_coding	OTTHUMT00000055453.1	42	223	0	0.00	0	0	C	NM_005454	0	0		14720321	-1	no_errors	ENST00000380911	ensembl	human	known	74_37	missense	47	192	12.96	14.29	7	32	SNP	0.729	T
IGF2	3481	genome.wustl.edu	37	11	2154871	2154871	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:2154871C>T	ENST00000416167.2	-	3	1348	c.182G>A	c.(181-183)cGt>cAt	p.R61H	IGF2_ENST00000434045.2_Missense_Mutation_p.R117H|IGF2_ENST00000418738.2_Missense_Mutation_p.R61H|IGF2_ENST00000381395.1_Missense_Mutation_p.R61H|IGF2_ENST00000381392.1_Missense_Mutation_p.R64H|IGF2_ENST00000381389.1_Missense_Mutation_p.R61H|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Missense_Mutation_p.R64H|IGF2_ENST00000300632.5_Missense_Mutation_p.R61H			P01344	IGF2_HUMAN	insulin-like growth factor 2	61	C.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGGCTGCGACGGCTCACACG	0.662																																							0											0													48.0	38.0	41.0					11																	2154871		2202	4298	6500	SO:0001583	missense	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.182G>A	11.37:g.2154871C>T	ENSP00000414497:p.Arg61His		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.R117H	ENST00000416167.2	37	c.350	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320601	0.81469	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.91351	-2.83;-2.66;-2.83;-2.83;-2.83;-2.66;-2.83;-2.83;-2.83	2.87	0.868	0.19090	Insulin-like (4);	0.508000	0.19414	U	0.114865	D	0.94984	0.8377	M	0.92784	3.345	0.18873	N	0.999981	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.958	D	0.87505	0.2436	10	0.72032	D	0.01	-13.0814	6.3957	0.21611	0.0:0.7011:0.1865:0.1124	.	117;61	C9JAF2;P01344	.;IGF2_HUMAN	H	61;64;61;61;64;117;64;61;61;61;64	ENSP00000370802:R61H;ENSP00000370813:R64H;ENSP00000414497:R61H;ENSP00000300632:R61H;ENSP00000391826:R117H;ENSP00000370799:R64H;ENSP00000370796:R61H;ENSP00000402047:R61H;ENSP00000338297:R61H	ENSP00000300632:R61H	R	-	2	0	IGF2	2111447	0.595000	0.26857	0.135000	0.22099	0.886000	0.51366	1.205000	0.32308	0.106000	0.17784	0.450000	0.29827	CGT	0	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2		0.662	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	protein_coding	OTTHUMT00000026053.2	37	107	0	0.00	0	0	C	NM_000612	0	0		2154871	-1	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	34	93	17.07	9.71	7	10	SNP	0.035	T
BSCL2	26580	genome.wustl.edu	37	11	62462143	62462143	+	Missense_Mutation	SNP	A	A	C			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:62462143A>C	ENST00000403550.1	-	4	758	c.335T>G	c.(334-336)cTt>cGt	p.L112R	BSCL2_ENST00000360796.5_Missense_Mutation_p.L176R|BSCL2_ENST00000421906.1_Missense_Mutation_p.L112R|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L112R|BSCL2_ENST00000407022.3_Missense_Mutation_p.L112R|BSCL2_ENST00000433053.1_Missense_Mutation_p.L176R|BSCL2_ENST00000405837.1_Missense_Mutation_p.L176R			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	112					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGGCAGCTCAAGCTCTAAGGT	0.458											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													130.0	102.0	111.0					11																	62462143		2202	4299	6501	SO:0001583	missense	0				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.335T>G	11.37:g.62462143A>C	ENSP00000385561:p.Leu112Arg	1061	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	pfam_Adipose-reg_protein_Seipin	p.L176R	ENST00000403550.1	37	c.527	CCDS8031.1	11	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271746	0.80469	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.42	5.42	0.78866	.	0.000000	0.56097	U	0.000037	D	0.97439	0.9162	M	0.88310	2.945	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.997;0.999	D	0.98175	1.0454	10	0.87932	D	0	-6.6751	13.3839	0.60785	1.0:0.0:0.0:0.0	.	112;112;176;112	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	R	176;176;112;176;112;112;112;112;43;176	ENSP00000385332:L176R;ENSP00000414002:L176R;ENSP00000278893:L112R;ENSP00000354032:L176R;ENSP00000385561:L112R;ENSP00000384080:L112R;ENSP00000413209:L112R;ENSP00000413340:L112R;ENSP00000436026:L43R;ENSP00000433888:L176R	ENSP00000278893:L112R	L	-	2	0	BSCL2	62218719	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.956000	0.87863	2.052000	0.61016	0.460000	0.39030	CTT	0	pfam_Adipose-reg_protein_Seipin		0.458	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	protein_coding	OTTHUMT00000319185.1	28	203	0	0.00	0	0	A	NM_032667	0	0		62462143	-1	no_errors	ENST00000360796	ensembl	human	known	74_37	missense	23	103	36.11	39.31	13	68	SNP	1	C
PLA2G16	11145	genome.wustl.edu	37	11	63365595	63365595	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:63365595G>A	ENST00000323646.5	-	2	410	c.56C>T	c.(55-57)cCt>cTt	p.P19L	PLA2G16_ENST00000394613.3_Intron|PLA2G16_ENST00000415826.1_Missense_Mutation_p.P19L	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	19					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTGTAGAAAGGGCGAAAAAT	0.537																																							0											0													144.0	113.0	123.0					11																	63365595		2201	4298	6499	SO:0001583	missense	0			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.56C>T	11.37:g.63365595G>A	ENSP00000320337:p.Pro19Leu		B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.P19L	ENST00000323646.5	37	c.56	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	G	0.581	-0.836950	0.02692	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.21361	2.01;2.01	5.97	2.07	0.26955	.	0.423693	0.26390	N	0.024651	T	0.18341	0.0440	L	0.58669	1.825	0.30596	N	0.76104	B	0.09022	0.002	B	0.12837	0.008	T	0.15009	-1.0452	10	0.19590	T	0.45	-0.1663	9.0793	0.36542	0.2974:0.0:0.7026:0.0	.	19	P53816	PAG16_HUMAN	L	19	ENSP00000320337:P19L;ENSP00000389124:P19L	ENSP00000320337:P19L	P	-	2	0	PLA2G16	63122171	0.000000	0.05858	1.000000	0.80357	0.422000	0.31414	0.502000	0.22594	0.879000	0.35944	-0.136000	0.14681	CCT	0	NULL		0.537	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	protein_coding	OTTHUMT00000396632.1	36	200	0	0.00	0	0	G	NM_001128203	0	0		63365595	-1	no_errors	ENST00000323646	ensembl	human	known	74_37	missense	34	180	12.82	15.42	5	33	SNP	0.63	A
COX8A	1351	genome.wustl.edu	37	11	63742168	63742168	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:63742168C>T	ENST00000314133.3	+	1	90	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	AP000721.4_ENST00000535431.1_Missense_Mutation_p.P6S	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	6					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										CGTCCTGACGCCGCTGCTGCT	0.642																																							0											0													27.0	27.0	27.0					11																	63742168		2200	4294	6494	SO:0001583	missense	0			J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2294	protein-coding gene	gene with protein product		123870	"""cytochrome c oxidase subunit VIII"", ""cytochrome c oxidase subunit 8A (ubiquitous)"""	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.16C>T	11.37:g.63742168C>T	ENSP00000321260:p.Pro6Ser		P15955	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8	p.P6S	ENST00000314133.3	37	c.16	CCDS8054.1	11	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026366	0.08054	.	.	ENSG00000176340	ENST00000314133	.	.	.	4.82	2.93	0.34026	.	0.376195	0.27019	N	0.021328	T	0.30230	0.0758	.	.	.	0.09310	N	1	B	0.20368	0.044	B	0.18263	0.021	T	0.18053	-1.0349	8	0.42905	T	0.14	-32.571	9.529	0.39182	0.0:0.7716:0.1434:0.085	.	6	P10176	COX8A_HUMAN	S	6	.	ENSP00000321260:P6S	P	+	1	0	COX8A	63498744	0.002000	0.14202	0.073000	0.20177	0.014000	0.08584	0.347000	0.20014	0.341000	0.23771	-0.797000	0.03246	CCG	0	NULL		0.642	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8A	protein_coding	OTTHUMT00000396273.1	43	113	0	0.00	0	0	C	NM_004074	0	0		63742168	1	no_errors	ENST00000314133	ensembl	human	known	74_37	missense	49	83	16.95	13.54	10	13	SNP	0.053	T
TMEM225	338661	genome.wustl.edu	37	11	123755310	123755310	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:123755310G>A	ENST00000375026.2	-	2	431	c.215C>T	c.(214-216)tCg>tTg	p.S72L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	72					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCAAGGCTCGACGTCATCAT	0.408																																							0											0													131.0	129.0	130.0					11																	123755310		2202	4299	6501	SO:0001583	missense	0			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.215C>T	11.37:g.123755310G>A	ENSP00000364166:p.Ser72Leu			Missense_Mutation	SNP	NULL	p.S72L	ENST00000375026.2	37	c.215	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	7.624	0.677427	0.14841	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.59364	0.27;0.27	5.17	-4.22	0.03800	.	2.051610	0.02290	N	0.070203	T	0.32882	0.0844	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.42882	-0.9425	10	0.02654	T	1	0.631	8.9598	0.35840	0.2648:0.1427:0.5925:0.0	.	72	Q6GV28	TM225_HUMAN	L	72;22	ENSP00000364166:S72L;ENSP00000431282:S22L	ENSP00000364166:S72L	S	-	2	0	TMEM225	123260520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.161000	0.10026	-0.615000	0.05679	-0.345000	0.07892	TCG	0	NULL		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	protein_coding	OTTHUMT00000387260.1	49	228	0	0.87	0	2	G	NM_001013743	0	0		123755310	-1	no_errors	ENST00000375026	ensembl	human	known	74_37	missense	42	133	36.36	30.00	24	57	SNP	0	A
DRAM1	55332	genome.wustl.edu	37	12	102302108	102302108	+	Missense_Mutation	SNP	A	A	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr12:102302108A>T	ENST00000258534.8	+	4	926	c.487A>T	c.(487-489)Atc>Ttc	p.I163F	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	163					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACGGATGGTCATCTCTGCCGT	0.458																																							0											0													184.0	176.0	178.0					12																	102302108		2060	4204	6264	SO:0001583	missense	0			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.487A>T	12.37:g.102302108A>T	ENSP00000258534:p.Ile163Phe		B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.I163F	ENST00000258534.8	37	c.487	CCDS41823.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.87|11.87	1.768864|1.768864	0.31320|0.31320	.|.	.|.	ENSG00000136048|ENSG00000136048	ENST00000549066|ENST00000258534	.|T	.|0.42131	.|0.98	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.108413	.|0.64402	.|D	.|0.000011	T|T	0.31949|0.31949	0.0813|0.0813	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P	.|0.35272	.|0.493	.|B	.|0.31946	.|0.138	T|T	0.11203|0.11203	-1.0597|-1.0597	5|10	.|0.34782	.|T	.|0.22	.|.	11.9419|11.9419	0.52905|0.52905	0.8549:0.1451:0.0:0.0|0.8549:0.1451:0.0:0.0	.|.	.|163	.|Q8N682	.|DRAM1_HUMAN	L|F	6|163	.|ENSP00000258534:I163F	.|ENSP00000258534:I163F	H|I	+|+	2|1	0|0	DRAM1|DRAM1	100826239|100826239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.060000|0.060000	0.15804|0.15804	4.404000|4.404000	0.59735|0.59735	2.106000|2.106000	0.64143|0.64143	0.523000|0.523000	0.50628|0.50628	CAT|ATC	0	pfam_Frag1/DRAM/Sfk1		0.458	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM1	protein_coding	OTTHUMT00000409195.1	34	178	0	0.00	0	0	A	NM_018370	0	0		102302108	1	no_errors	ENST00000258534	ensembl	human	known	74_37	missense	35	164	16.67	17.09	7	34	SNP	1	T
SIPA1L1	26037	genome.wustl.edu	37	14	72117205	72117205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr14:72117205C>T	ENST00000555818.1	+	5	2320	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R133*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R658*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R658*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	658	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGAGAAGTATCGAGCACAGCT	0.423																																							0											0													83.0	80.0	81.0					14																	72117205		2203	4300	6503	SO:0001587	stop_gained	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1972C>T	14.37:g.72117205C>T	ENSP00000450832:p.Arg658*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R658*	ENST00000555818.1	37	c.1972	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.574763	0.97676	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3206	14.8208	0.70070	0.144:0.856:0.0:0.0	.	.	.	.	X	658;658;658;133;174	.	ENSP00000351352:R658X	R	+	1	2	SIPA1L1	71186958	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	3.552000	0.53705	2.804000	0.96469	0.655000	0.94253	CGA	0	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	28	206	0	0.00	0	0	C	NM_015556	0	0		72117205	1	no_errors	ENST00000555818	ensembl	human	known	74_37	nonsense	43	181	10.42	4.74	5	9	SNP	1	T
ALOX12	239	genome.wustl.edu	37	17	6909880	6909880	+	Nonsense_Mutation	SNP	G	G	A	rs199517856		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:6909880G>A	ENST00000251535.6	+	11	1547	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	498	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGCAGGCCTGGTGTCGGGAGA	0.602																																							0											0													80.0	81.0	81.0					17																	6909880		2203	4300	6503	SO:0001587	stop_gained	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1494G>A	17.37:g.6909880G>A	ENSP00000251535:p.Trp498*		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.W498*	ENST00000251535.6	37	c.1494	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.336895	0.97485	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4921	12.5386	0.56156	0.0:0.0:1.0:0.0	.	.	.	.	X	498	.	ENSP00000251535:W498X	W	+	3	0	ALOX12	6850604	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.595000	0.82710	2.431000	0.82371	0.484000	0.47621	TGG	0	pfam_LipOase_C,superfamily_LipOase_C		0.602	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	protein_coding	OTTHUMT00000219922.2	37	97	0	0.00	0	0	G		0	0		6909880	1	no_errors	ENST00000251535	ensembl	human	known	74_37	nonsense	26	85	16.13	9.47	5	9	SNP	1	A
CHD3	1107	genome.wustl.edu	37	17	7810746	7810746	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:7810746C>T	ENST00000330494.7	+	32	5014	c.4864C>T	c.(4864-4866)Cca>Tca	p.P1622S	CHD3_ENST00000380358.4_Missense_Mutation_p.P1681S|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.P1622S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1622	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGATGAGGTGCCAGGGGTGCC	0.592																																							0											0													65.0	62.0	63.0					17																	7810746		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4864C>T	17.37:g.7810746C>T	ENSP00000332628:p.Pro1622Ser		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1622S	ENST00000330494.7	37	c.4864	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436522	0.12104	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.89552	-2.53;-2.48;-2.47	4.56	0.361	0.16107	.	0.477764	0.17776	N	0.162426	T	0.72550	0.3474	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.57242	-0.7845	10	0.14656	T	0.56	-1.5087	8.6236	0.33875	0.0:0.6714:0.0:0.3286	.	198;1622;1622;1681	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	S	1681;1622;1622	ENSP00000369716:P1681S;ENSP00000350907:P1622S;ENSP00000332628:P1622S	ENSP00000332628:P1622S	P	+	1	0	CHD3	7751471	0.000000	0.05858	0.596000	0.28811	0.980000	0.70556	0.031000	0.13710	0.260000	0.21731	0.561000	0.74099	CCA	0	NULL		0.592	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	29	128	0	0.00	0	0	C	NM_001005273	0	0		7810746	1	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	31	125	31.11	28.57	14	50	SNP	0.048	T
SUPT6H	6830	genome.wustl.edu	37	17	27004811	27004811	+	Missense_Mutation	SNP	G	G	C			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:27004811G>C	ENST00000314616.6	+	8	1259	c.976G>C	c.(976-978)Gcc>Ccc	p.A326P	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A326P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	326	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAATGCTTTTGCCACACCAAC	0.468																																							0											0													159.0	153.0	155.0					17																	27004811		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.976G>C	17.37:g.27004811G>C	ENSP00000319104:p.Ala326Pro		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A326P	ENST00000314616.6	37	c.976	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820379	0.50633	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.45	5.45	0.79879	.	0.061185	0.64402	D	0.000002	T	0.32704	0.0838	N	0.04508	-0.205	0.53688	D	0.999973	B	0.33612	0.419	B	0.31101	0.124	T	0.20107	-1.0285	9	0.29301	T	0.29	-14.121	18.8847	0.92372	0.0:0.0:1.0:0.0	.	326	Q7KZ85	SPT6H_HUMAN	P	326	.	ENSP00000319104:A326P	A	+	1	0	SUPT6H	24028938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	2.556000	0.86216	0.563000	0.77884	GCC	0	pirsf_TF_Spt6		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	31	327	0	0.00	0	0	G	NM_003170	0	0		27004811	1	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	39	244	18.75	13.73	9	39	SNP	1	C
ZNF614	80110	genome.wustl.edu	37	19	52521687	52521687	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr19:52521687C>A	ENST00000270649.6	-	3	620	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	ZNF614_ENST00000356322.6_Missense_Mutation_p.D26Y	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGCAGTGTCCAGGAGCTGC	0.473																																							0											0													88.0	84.0	85.0					19																	52521687		2203	4300	6503	SO:0001583	missense	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.76G>T	19.37:g.52521687C>A	ENSP00000270649:p.Asp26Tyr		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D26Y	ENST00000270649.6	37	c.76	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613336	0.28712	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.02863	4.13;4.13	3.23	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.13970	0.0338	M	0.91459	3.21	0.23712	N	0.997041	P;D	0.64830	0.866;0.994	P;D	0.66196	0.45;0.942	T	0.11348	-1.0591	9	0.66056	D	0.02	.	3.4658	0.07549	0.2514:0.6102:0.0:0.1383	.	26;26	Q8N883;Q9BSN8	ZN614_HUMAN;.	Y	26	ENSP00000348674:D26Y;ENSP00000270649:D26Y	ENSP00000270649:D26Y	D	-	1	0	ZNF614	57213499	0.696000	0.27757	0.860000	0.33809	0.293000	0.27360	1.188000	0.32102	1.798000	0.52647	0.591000	0.81541	GAC	0	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	protein_coding	OTTHUMT00000462407.1	82	130	0	0.00	0	0	C	NM_025040	0	0		52521687	-1	no_errors	ENST00000270649	ensembl	human	known	74_37	missense	81	86	10.99	17.31	10	18	SNP	0.568	A
SMARCAD1	56916	genome.wustl.edu	37	4	95200079	95200080	+	Splice_Site	INS	-	-	A			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:95200079_95200080insA	ENST00000354268.4	+	19	2369_2370		c.e19-1		SMARCAD1_ENST00000509418.1_Splice_Site|SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.E768fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGAGTCACAGAAAAAAACACA	0.317																																							0											0																																										SO:0001630	splice_region_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2297-1->A	4.37:g.95200086_95200086dupA			B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N770fs	ENST00000354268.4	37	c.2302_2303	CCDS3639.1	4																																																																																			0	pfam_SNF2_N,superfamily_P-loop_NTPase		0.317	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	protein_coding	OTTHUMT00000253583.1	49	243	0	0.00	0	0	0	NM_020159	0	0	Intron	95200080	1	no_errors	ENST00000359052	ensembl	human	known	74_37	frame_shift_ins	74	174	17.78	16.35	16	34	INS	1.000:1.000	A
DHX37	57647	genome.wustl.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	CTC	CTC	CTC	-	CTC	CTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																							0											3	Deletion - In frame(3)	breast(2)|prostate(1)																																								SO:0001651	inframe_deletion	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del		Q9BUI7|Q9P211	In_Frame_Del	DEL	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E168in_frame_del	ENST00000308736.2	37	c.504_502	CCDS9261.1	12																																																																																			0	NULL		0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	protein_coding		38	41	0	0.00	0	0	CTC	NM_032656	rs376470858	ACTC->A		125465272	-1	no_errors	ENST00000308736	ensembl	human	known	74_37	in_frame_del	43	23	10.42	11.54	5	3	DEL	0.904:0.904:0.905	0
TNXB	7148	genome.wustl.edu	37	6	32029977	32029977	+	Silent	SNP	G	G	A	rs372616750		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr6:32029977G>A	ENST00000375244.3	-	20	7326	c.7125C>T	c.(7123-7125)caC>caT	p.H2375H	TNXB_ENST00000375247.2_Silent_p.H2375H			P22105	TENX_HUMAN	tenascin XB	2437	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGGCCACCGTGGAAGCCGT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17963	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													32.0	37.0	36.0					6																	32029977		1296	2558	3854	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7125C>T	6.37:g.32029977G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.H2375	ENST00000375244.3	37	c.7125		6																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	36	16	0	0.00	0	0	G	NM_019105	rs372616750	G->A		32029977	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	24	7	20	0.00	6	0	SNP	0.001	A
MAML3	55534	genome.wustl.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																							0											0																																										SO:0001651	inframe_deletion	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del			In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q650in_frame_del	ENST00000509479.2	37	c.1951_1949	CCDS54805.1	4																																																																																			0	NULL		0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	27	29	0	0.00	0	0	GCT		0	0		140810641	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	in_frame_del	23	10	17.86	0.00	5	0	DEL	0.196:0.001:0.000	0
