#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AADACL4	343066	broad.mit.edu	37	1	12726494	12726494	+	Silent	SNP	A	A	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr1:12726494A>G	ENST00000376221.1	+	4	972	c.972A>G	c.(970-972)tcA>tcG	p.S324S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	324						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.S324S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAGAAAATTCACCCCTGATAG	0.473																																							uc001auf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(970-972)TCA>TCG		arylacetamide deacetylase-like 4							104.0	105.0	105.0					1																	12726494		2203	4300	6503	SO:0001819	synonymous_variant	343066					integral to membrane	carboxylesterase activity	g.chr1:12726494A>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.972A>G	1.37:g.12726494A>G							p.S324S	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	972	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	324			Lumenal (Potential).			Silent	SNP	ENST00000376221.1	37	c.972A>G	CCDS30590.1																																																																																				0.473	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		3	121	0	0	0	0.004672	0	3	121				
MYOM3	127294	broad.mit.edu	37	1	24397690	24397690	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr1:24397690G>A	ENST00000374434.3	-	25	3229	c.3067C>T	c.(3067-3069)Cgg>Tgg	p.R1023W	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.R1023W|MYOM3_ENST00000330966.7_Missense_Mutation_p.R1024W|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1023						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.R1023W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGCCAAAGCCGCACCTCCCCT	0.552											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001bin.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3067-3069)CGG>TGG		myomesin family, member 3							55.0	55.0	55.0					1																	24397690		1979	4147	6126	SO:0001583	missense	127294							g.chr1:24397690G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3067C>T	1.37:g.24397690G>A	ENSP00000363557:p.Arg1023Trp		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_uc001bim.3_Missense_Mutation_p.R680W|MYOM3_uc001bio.2_Missense_Mutation_p.R1023W	p.R1023W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3230	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1023					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3067C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079146	0.94050	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.04970	3.52;3.52;3.52	5.54	5.54	0.83059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.03060	-1.1077	10	0.87932	D	0	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	1023;1023	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	W	1023;1024;1023	ENSP00000363557:R1023W;ENSP00000332670:R1024W;ENSP00000328415:R1023W	ENSP00000328415:R1023W	R	-	1	2	MYOM3	24270277	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.863000	0.75489	2.613000	0.88420	0.462000	0.41574	CGG		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		3	23	0	0	0	0.004672	0	3	23				
GSTM3	2947	broad.mit.edu	37	1	110280922	110280922	+	Missense_Mutation	SNP	G	G	A	rs557438670		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr1:110280922G>A	ENST00000540225.1	-	5	566	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Missense_Mutation_p.R86C|GSTM3_ENST00000256594.3_Missense_Mutation_p.R86C|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	86	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R86C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TTGTGCTTGCGAGCGATGTAG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20714	0.0		0.0	False		,,,				2504	0.0						uc001dyo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)CGC>TGC		glutathione S-transferase mu 3	Glutathione(DB00143)						192.0	157.0	169.0					1																	110280922		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280922G>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.256C>T	1.37:g.110280922G>A	ENSP00000444978:p.Arg86Cys					GSTM3_uc001dyp.2_Missense_Mutation_p.R83C|GSTM3_uc010ovv.1_Missense_Mutation_p.R86C	p.R86C	NM_000849	NP_000840	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	566	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	86			GST N-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.256C>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630934	0.87660	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.08896	3.04;3.04;3.04	5.41	5.41	0.78517	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (1);	0.046608	0.85682	D	0.000000	T	0.40645	0.1125	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.959;0.983;0.959	T	0.62148	-0.6915	10	0.87932	D	0	3.3373	18.1188	0.89565	0.0:0.0:1.0:0.0	.	86;92;86	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	C	86	ENSP00000444978:R86C;ENSP00000256594:R86C;ENSP00000354357:R86C	ENSP00000256594:R86C	R	-	1	0	GSTM3	110082445	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.389000	0.66255	2.802000	0.96397	0.563000	0.77884	CGC		0.517	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		20	37	0	0	0	0.055883	0	20	37				
SEC31B	25956	broad.mit.edu	37	10	102256138	102256138	+	Silent	SNP	C	C	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr10:102256138C>G	ENST00000370345.3	-	18	2284	c.2187G>C	c.(2185-2187)cgG>cgC	p.R729R	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	729					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.R729R(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CATGAGGACCCCGCAGTTGCT	0.587																																							uc001krc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2185-2187)CGG>CGC		SEC31 homolog B							92.0	86.0	88.0					10																	102256138		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102256138C>G	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2187G>C	10.37:g.102256138C>G						SEC31B_uc010qpo.1_Silent_p.R728R|SEC31B_uc001krd.1_Silent_p.R266R|SEC31B_uc001krf.1_Silent_p.R266R|SEC31B_uc001kre.1_Silent_p.R266R|SEC31B_uc001krg.1_Silent_p.R298R	p.R729R	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	18	2289	-		Colorectal(252;0.117)	729					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.2187G>C	CCDS7495.1																																																																																				0.587	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		23	47	0	0	0	0.076483	0	23	47				
BCL9L	283149	broad.mit.edu	37	11	118771997	118771997	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr11:118771997G>A	ENST00000334801.3	-	6	3419	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	819	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.R819W(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCCGAACCCGGGCCATCTCC	0.647																																							uc001pug.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2455-2457)CGG>TGG		B-cell CLL/lymphoma 9-like							43.0	43.0	43.0					11																	118771997		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771997G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2455C>T	11.37:g.118771997G>A	ENSP00000335320:p.Arg819Trp					BCL9L_uc009zal.2_Missense_Mutation_p.R814W	p.R819W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3420	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	819			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.2455C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565735	0.65651	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.44083	0.93	5.21	5.21	0.72293	.	0.000000	0.45867	D	0.000327	T	0.57110	0.2031	L	0.47716	1.5	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.952	T	0.59526	-0.7438	10	0.87932	D	0	-21.2794	14.4123	0.67121	0.0:0.0:0.852:0.148	.	814;819	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	W	819;782;112;819;819	ENSP00000335320:R819W	ENSP00000335320:R819W	R	-	1	2	BCL9L	118277207	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	2.711000	0.47177	2.415000	0.81967	0.655000	0.94253	CGG		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		18	46	0	0	0	0.043863	0	18	46				
OR4K2	390431	broad.mit.edu	37	14	20344588	20344588	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr14:20344588C>A	ENST00000298642.2	+	1	198	c.162C>A	c.(160-162)caC>caA	p.H54Q		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H54Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGACCCTCACCTACACTCTC	0.403																																							uc001vwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(160-162)CAC>CAA		olfactory receptor, family 4, subfamily K,							391.0	379.0	383.0					14																	20344588		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344588C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.162C>A	14.37:g.20344588C>A	ENSP00000298642:p.His54Gln						p.H54Q	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	162	+	all_cancers(95;0.00108)		54			Cytoplasmic (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.162C>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	8.119	0.780599	0.16120	.	.	ENSG00000165762	ENST00000298642	T	0.00792	5.69	5.4	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.123171	0.36932	N	0.002330	T	0.00906	0.0030	L	0.41124	1.26	0.29644	N	0.844473	B	0.13594	0.008	B	0.17098	0.017	T	0.29119	-1.0022	10	0.59425	D	0.04	.	7.1374	0.25535	0.0:0.7347:0.0:0.2653	.	54	Q8NGD2	OR4K2_HUMAN	Q	54	ENSP00000298642:H54Q	ENSP00000298642:H54Q	H	+	3	2	OR4K2	19414428	0.000000	0.05858	1.000000	0.80357	0.442000	0.32017	-2.575000	0.00910	0.845000	0.35118	0.655000	0.94253	CAC		0.403	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			141	158	1	0	2.39329e-74	0.048971	2.97702e-74	141	158				
PSME1	5720	broad.mit.edu	37	14	24607425	24607425	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr14:24607425G>C	ENST00000206451.6	+	8	585	c.480G>C	c.(478-480)atG>atC	p.M160I	PSME1_ENST00000561435.1_Missense_Mutation_p.M160I|PSME1_ENST00000559123.1_Start_Codon_SNP_p.M1I|PSME1_ENST00000382708.3_Missense_Mutation_p.M160I|EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	160					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)	p.M160I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		TTGAGCTGATGACCAGCCTCC	0.502																																							uc001wmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)ATG>ATC		proteasome activator subunit 1 isoform 1							194.0	204.0	200.0					14																	24607425		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24607425G>C		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.480G>C	14.37:g.24607425G>C	ENSP00000206451:p.Met160Ile					PSME1_uc001wmh.2_Missense_Mutation_p.M160I	p.M160I	NM_006263	NP_006254	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	8	574	+			160					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.480G>C	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	g	10.56	1.384053	0.25031	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.24350	1.86;1.86	5.01	5.01	0.66863	Proteasome activator pa28, REG beta subunit (2);	0.043673	0.85682	D	0.000000	T	0.19366	0.0465	N	0.16066	0.365	0.58432	D	0.999999	P;P	0.44986	0.847;0.683	P;B	0.46975	0.533;0.306	T	0.02378	-1.1168	10	0.08599	T	0.76	-20.3969	15.8714	0.79122	0.0:0.0:1.0:0.0	.	160;160	A6NJG9;Q06323	.;PSME1_HUMAN	I	160	ENSP00000206451:M160I;ENSP00000372155:M160I	ENSP00000206451:M160I	M	+	3	0	PSME1	23677265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.927000	0.70080	2.618000	0.88619	0.563000	0.77884	ATG		0.502	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		15	338	0	0	0	0.020292	0	15	338				
IGHD6-19	28486	broad.mit.edu	37	14	106357543	106357543	+	RNA	SNP	C	C	T	rs560315929		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr14:106357543C>T	ENST00000390574.1	-	0	21				AL122127.25_ENST00000418566.1_lincRNA|IGHD1-20_ENST00000450276.1_RNA|IGHD5-18_ENST00000390575.1_RNA|IGHD4-17_ENST00000431870.1_RNA					immunoglobulin heavy diversity 6-19																		TCTGGCCTGGCGAGTGTCACT	0.592													.|||	1	0.000199681	0.0	0.0014	5008	,	,		4601	0.0		0.0	False		,,,				2504	0.0						uc010tyt.1		NA																	0					0						c.e3047+1		Parts of antibodies, mostly variable regions.							100.0	108.0	105.0					14																	106357543		2174	4201	6375			8755							g.chr14:106357543C>T	X97051		14q32.33	2012-02-08			ENSG00000211914	ENSG00000211914		"""Immunoglobulins / IGH locus"""	5515	other	immunoglobulin gene						3138112	Standard	NG_001019		Approved	IGHD619			OTTHUMG00000152431		14.37:g.106357543C>T						KIAA0125_uc001ysq.2_Intron|KIAA0125_uc001ysr.2_Intron								3047		-									Splice_Site	SNP	ENST00000390574.1	37	c.48861_splice																																																																																					0.592	IGHD6-19-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326209.1	NG_001019		10	33	0	0	0	0.09319	0	10	33				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	15	0	0	0	0.014758	0	4	15				
MYH2	4620	broad.mit.edu	37	17	10436696	10436696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr17:10436696G>A	ENST00000245503.5	-	21	2731	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.R783*|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	783	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R783*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGTCATCTCGCATCTCCTCT	0.488																																							uc010coi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2347-2349)CGA>TGA		myosin heavy chain IIa							80.0	79.0	79.0					17																	10436696		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10436696G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2347C>T	17.37:g.10436696G>A	ENSP00000245503:p.Arg783*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.R783*|MYH2_uc010coj.2_Intron	p.R783*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			21	2475	-			783			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.2347C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	41	8.676233	0.98910	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	4.87	-1.47	0.08772	.	0.000000	0.33670	U	0.004673	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7761	0.96393	0.0:0.0:0.7992:0.2008	.	.	.	.	X	783	.	ENSP00000245503:R783X	R	-	1	2	MYH2	10377421	0.961000	0.32948	0.991000	0.47740	0.994000	0.84299	0.013000	0.13310	-0.466000	0.06943	-0.467000	0.05162	CGA		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		24	71	0	0	0	0.076483	0	24	71				
SMARCA4	6597	broad.mit.edu	37	19	11152224	11152224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr19:11152224A>G	ENST00000429416.3	+	31	4693	c.4412A>G	c.(4411-4413)aAg>aGg	p.K1471R	SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1441R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1441R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1441R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.K1503R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1438R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1471R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1441R|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1438R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1471					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K1503R(1)|p.K1471R(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGTGATCAAGTACAAGGAC	0.612			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)		lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4411-4413)AAG>AGG		SWI/SNF-related matrix-associated							45.0	47.0	46.0					19																	11152224		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152224A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4412A>G	19.37:g.11152224A>G	ENSP00000395654:p.Lys1471Arg					SMARCA4_uc010dxp.2_Missense_Mutation_p.K1471R|SMARCA4_uc010dxo.2_Missense_Mutation_p.K1503R|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1438R|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1438R|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1441R|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1441R|SMARCA4_uc002mqh.3_Missense_Mutation_p.K561R	p.K1471R	NM_003072	NP_003063	P51532	SMCA4_HUMAN			30	4696	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1471					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4412A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535624	0.64972	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.44	4.44	0.53790	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.33753	1.03	0.50467	D	0.999878	P;P;P;P;P;P	0.46578	0.563;0.563;0.563;0.88;0.563;0.563	B;B;B;D;B;P	0.65140	0.372;0.372;0.372;0.932;0.37;0.472	T	0.30995	-0.9959	10	0.54805	T	0.06	-43.7214	12.8175	0.57673	1.0:0.0:0.0:0.0	.	1441;1438;1438;1503;1441;1471	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	R	1471;1503;1505;1471;1438;1438;1441;1441	ENSP00000395654:K1471R;ENSP00000350720:K1503R;ENSP00000343896:K1471R;ENSP00000392837:K1438R;ENSP00000397783:K1441R;ENSP00000414727:K1441R	ENSP00000343896:K1471R	K	+	2	0	SMARCA4	11013224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.002000	0.93572	1.871000	0.54225	0.383000	0.25322	AAG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		10	17	0	0	0	0.069234	0	10	17				
DHDH	27294	broad.mit.edu	37	19	49445800	49445800	+	Silent	SNP	C	C	T			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr19:49445800C>T	ENST00000221403.2	+	5	763	c.723C>T	c.(721-723)agC>agT	p.S241S	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Silent_p.S102S	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	241					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.S241S(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CCTCCGTGAGCGGCACCAAGG	0.617																																							uc002ple.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(721-723)AGC>AGT		dimeric dihydrodiol dehydrogenase							58.0	52.0	54.0					19																	49445800		2203	4300	6503	SO:0001819	synonymous_variant	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49445800C>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.723C>T	19.37:g.49445800C>T							p.S241S	NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	5	763	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	241						Silent	SNP	ENST00000221403.2	37	c.723C>T	CCDS12741.1																																																																																				0.617	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		17	29	0	0	0	0.0333	0	17	29				
U2AF2	11338	broad.mit.edu	37	19	56166481	56166481	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr19:56166481T>A	ENST00000308924.4	+	1	51	c.11T>A	c.(10-12)tTc>tAc	p.F4Y	U2AF2_ENST00000450554.2_Missense_Mutation_p.F4Y			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	4	Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F4Y(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGTCGGACTTCGACGAGTTC	0.692																																							uc002qlu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)TTC>TAC		U2 (RNU2) small nuclear RNA auxiliary factor 2							19.0	25.0	23.0					19																	56166481		2192	4275	6467	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56166481T>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.11T>A	19.37:g.56166481T>A	ENSP00000307863:p.Phe4Tyr					U2AF2_uc002qlt.2_Missense_Mutation_p.F4Y	p.F4Y	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	1	1066	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	4					Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.11T>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797524	0.70567	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.10382	2.88;2.88	3.7	3.7	0.42460	.	0.067509	0.64402	D	0.000017	T	0.07458	0.0188	N	0.19112	0.55	0.80722	D	1	D;B	0.53885	0.963;0.0	B;B	0.41088	0.347;0.002	T	0.33650	-0.9860	10	0.40728	T	0.16	-20.7204	11.8154	0.52207	0.0:0.0:0.0:1.0	.	4;4	P26368;P26368-2	U2AF2_HUMAN;.	Y	4	ENSP00000307863:F4Y;ENSP00000388475:F4Y	ENSP00000307863:F4Y	F	+	2	0	U2AF2	60858293	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.521000	0.60532	1.688000	0.51068	0.402000	0.26972	TTC		0.692	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		4	17	0	0	0	0.009096	0	4	17				
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																							uc002tkh.2		NA																	0					0						c.(616-618)CAC>GAC		WAS protein family homolog 1																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	p.H206D	NM_182905	NP_878908					5	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		4	10	0	0	0	0.009096	0	4	10				
C2orf88	84281	broad.mit.edu	37	2	190788073	190788073	+	Intron	SNP	C	C	T			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr2:190788073C>T	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TGGCCAGCAACGTTACCAACA	0.458																																							uc002uro.2		NA																	0					NA						c.(10-12)AAC>AAT		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788073C>T	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43520C>T	2.37:g.190788073C>T							p.N4N							1	155	+								D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000478197.1	37	c.12C>T																																																																																					0.458	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		31	50	0	0	0	0.054565	0	31	50				
DNER	92737	broad.mit.edu	37	2	230312248	230312248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr2:230312248C>T	ENST00000341772.4	-	8	1404	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	424	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.G424R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAGCAGATCCGAAGTATCCT	0.453																																							uc002vpv.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(1270-1272)GGA>AGA		delta-notch-like EGF repeat-containing							29.0	30.0	30.0					2																	230312248		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230312248C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1270G>A	2.37:g.230312248C>T	ENSP00000345229:p.Gly424Arg					DNER_uc010zly.1_Missense_Mutation_p.G152R	p.G424R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	8	1417	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	424			Extracellular (Potential).|EGF-like 5.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1270G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792798	0.90453	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.98207	-4.79	4.94	4.94	0.65067	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.102510	0.64402	D	0.000003	D	0.99369	0.9778	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98507	1.0617	10	0.87932	D	0	.	18.5296	0.90986	0.0:1.0:0.0:0.0	.	424	Q8NFT8	DNER_HUMAN	R	424;152	ENSP00000345229:G424R	ENSP00000345229:G424R	G	-	1	0	DNER	230020492	1.000000	0.71417	0.207000	0.23584	0.571000	0.35966	5.630000	0.67805	2.442000	0.82660	0.655000	0.94253	GGA		0.453	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		5	21	0	0	0	0.014758	0	5	21				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																							uc010ztl.1		NA																	4	Substitution - coding silent(4)		urinary_tract(2)|kidney(2)		0						c.(193-195)GGG>GGC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Silent_p.G17G	p.G65G							3	227	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.195G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	168	0	0	0	0.020292	0	8	168				
LRRC2	79442	broad.mit.edu	37	3	46593057	46593057	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr3:46593057C>A	ENST00000395905.3	-	2	417	c.25G>T	c.(25-27)Gac>Tac	p.D9Y	AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.D9Y|LRRC2_ENST00000496388.1_Intron	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	9								p.D9Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ACAGAAATGTCGAAGACAACC	0.398																																							uc010hji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)GAC>TAC		leucine rich repeat containing 2							112.0	107.0	109.0					3																	46593057		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46593057C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.25G>T	3.37:g.46593057C>A	ENSP00000379241:p.Asp9Tyr					LRRC2_uc003cpu.3_Missense_Mutation_p.D9Y	p.D9Y	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	389	-		Ovarian(412;0.0563)	9					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.25G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991800	0.74703	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.22336	1.96;1.96	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000007	T	0.35653	0.0939	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.08391	-1.0724	10	0.62326	D	0.03	.	15.3894	0.74731	0.0:1.0:0.0:0.0	.	9	Q9BYS8	LRRC2_HUMAN	Y	9	ENSP00000379241:D9Y;ENSP00000296144:D9Y	ENSP00000296144:D9Y	D	-	1	0	LRRC2	46568061	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	4.701000	0.61810	2.567000	0.86603	0.655000	0.94253	GAC		0.398	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			28	59	1	0	1.16021e-09	0.034045	1.40882e-09	28	59				
DROSHA	29102	broad.mit.edu	37	5	31526237	31526237	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr5:31526237T>A	ENST00000511367.2	-	4	1047	c.803A>T	c.(802-804)gAt>gTt	p.D268V	DROSHA_ENST00000442743.1_Missense_Mutation_p.D268V|DROSHA_ENST00000344624.3_Missense_Mutation_p.D268V|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Missense_Mutation_p.D268V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	268	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.D268V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCGGTCATAATCAGATCTGTA	0.582																																							uc003jhg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GAT>GTT		ribonuclease III, nuclear isoform 1							104.0	105.0	105.0					5																	31526237		2078	4211	6289	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526237T>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.803A>T	5.37:g.31526237T>A	ENSP00000425979:p.Asp268Val					RNASEN_uc003jhh.2_Missense_Mutation_p.D268V|RNASEN_uc003jhi.2_Missense_Mutation_p.D268V|RNASEN_uc010iui.1_Missense_Mutation_p.D259V	p.D268V	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	1162	-			268			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.803A>T	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.11|11.11	1.543595|1.543595	0.27563|0.27563	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.86|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.278328|.	0.32719|.	N|.	0.005723|.	T|.	0.50837|.	0.1639|.	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32968|.	0.354;0.392;0.392|.	B;B;B|.	0.39068|.	0.289;0.086;0.086|.	T|.	0.47195|.	-0.9136|.	10|.	0.40728|.	T|.	0.16|.	-3.8129|-3.8129	14.085|14.085	0.64949|0.64949	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	268;268;268|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	V|C	268;268;268;268;261;261;66|97	ENSP00000425979:D268V;ENSP00000339845:D268V;ENSP00000409335:D268V;ENSP00000424161:D268V;ENSP00000428782:D66V|.	ENSP00000265075:D261V|.	D|X	-|-	2|3	0|0	DROSHA|DROSHA	31561994|31561994	1.000000|1.000000	0.71417|0.71417	0.029000|0.029000	0.17559|0.17559	0.006000|0.006000	0.05464|0.05464	6.434000|6.434000	0.73408|0.73408	1.904000|1.904000	0.55121|0.55121	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.582	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		19	102	0	0	0	0.049695	0	19	102				
PPP2R2B	5521	broad.mit.edu	37	5	146030242	146030242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr5:146030242G>A	ENST00000394413.3	-	5	1063	c.493C>T	c.(493-495)Cga>Tga	p.R165*	PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R168*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R165*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R154*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R231*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R154*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R171*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R165*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R223*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R165*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	165					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R168*(1)|p.R223*(1)|p.R165*(1)|p.R154*(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATACTCTTCGTGGGGTGGCC	0.478																																							uc003loe.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)|prostate(1)	2						c.(493-495)CGA>TGA		beta isoform of regulatory subunit B55, protein							188.0	159.0	169.0					5																	146030242		2203	4300	6503	SO:0001587	stop_gained	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146030242G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.493C>T	5.37:g.146030242G>A	ENSP00000377935:p.Arg165*					PPP2R2B_uc010jgm.2_Nonsense_Mutation_p.R154*|PPP2R2B_uc003log.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003lof.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003loi.3_Nonsense_Mutation_p.R168*|PPP2R2B_uc003loh.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003loj.3_Nonsense_Mutation_p.R145*|PPP2R2B_uc003lok.3_Nonsense_Mutation_p.R154*|PPP2R2B_uc011dbu.1_Nonsense_Mutation_p.R171*|PPP2R2B_uc011dbv.1_Nonsense_Mutation_p.R223*	p.R165*	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1018	-			165					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Nonsense_Mutation	SNP	ENST00000394413.3	37	c.493C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	37	6.236031	0.97399	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.	.	.	6.0	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6434	14.4401	0.67309	0.0:0.0:0.7505:0.2495	.	.	.	.	X	165;154;231;165;165;165;154;168;171;223	.	ENSP00000336591:R168X	R	-	1	2	AC011357.1	146010435	0.882000	0.30256	0.993000	0.49108	0.956000	0.61745	1.242000	0.32755	2.848000	0.98002	0.655000	0.94253	CGA		0.478	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		6	45	0	0	0	0.02938	0	6	45				
TENM2	57451	broad.mit.edu	37	5	167553836	167553836	+	Missense_Mutation	SNP	G	G	A	rs370487632		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr5:167553836G>A	ENST00000518659.1	+	12	2326	c.2287G>A	c.(2287-2289)Gca>Aca	p.A763T	TENM2_ENST00000545108.1_Missense_Mutation_p.A763T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.A531T|TENM2_ENST00000519204.1_Missense_Mutation_p.A642T|TENM2_ENST00000403607.2_Missense_Mutation_p.A596T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	763	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A596T(1)|p.A642T(1)|p.A763T(1)									CTGGACAGGCGCAGCGTGTGA	0.577																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(2287-2289)GCA>ACA		odz, odd Oz/ten-m homolog 2		G	THR/ALA	1,4083		0,1,2041	43.0	49.0	47.0		2287	2.6	1.0	5		47	0,8352		0,0,4176	no	missense	ODZ2	NM_001122679.1	58	0,1,6217	AA,AG,GG		0.0,0.0245,0.0080	benign	763/2766	167553836	1,12435	2042	4176	6218	SO:0001583	missense	57451							g.chr5:167553836G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2287G>A	5.37:g.167553836G>A	ENSP00000429430:p.Ala763Thr					ODZ2_uc003lzr.3_Missense_Mutation_p.A531T|ODZ2_uc003lzt.3_Missense_Mutation_p.A127T|ODZ2_uc010jje.2_Missense_Mutation_p.A34T|uc003lzs.1_Intron	p.A763T	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	12	2287	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2287G>A		.	.	.	.	.	.	.	.	.	.	G	10.87	1.472529	0.26423	2.45E-4	0.0	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98	5.5	2.63	0.31362	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.426528	0.26623	N	0.023345	T	0.01976	0.0062	N	0.04686	-0.185	0.24406	N	0.994686	B;B;B	0.13594	0.005;0.003;0.008	B;B;B	0.09377	0.004;0.002;0.003	T	0.48352	-0.9043	10	0.15952	T	0.53	.	10.6257	0.45506	0.0675:0.2505:0.682:0.0	.	763;763;531	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	763;763;642;531;596	ENSP00000429430:A763T;ENSP00000438635:A763T;ENSP00000428964:A642T;ENSP00000427874:A531T;ENSP00000384905:A596T	ENSP00000384905:A596T	A	+	1	0	ODZ2	167486414	0.972000	0.33761	0.994000	0.49952	0.998000	0.95712	2.168000	0.42424	0.324000	0.23333	0.655000	0.94253	GCA		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	19	0	0	0	0.014758	0	5	19				
STAG3	10734	broad.mit.edu	37	7	99796940	99796940	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr7:99796940G>A	ENST00000426455.1	+	15	1930	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	STAG3_ENST00000317296.5_Missense_Mutation_p.R508Q|STAG3_ENST00000394018.2_Missense_Mutation_p.R450Q|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	508					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R508Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGGGCTCGGCTGAAGGAC	0.562																																							uc003utx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1522-1524)CGG>CAG		stromal antigen 3							81.0	68.0	73.0					7																	99796940		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99796940G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1523G>A	7.37:g.99796940G>A	ENSP00000400359:p.Arg508Gln					STAG3_uc010lgs.1_Missense_Mutation_p.R296Q|STAG3_uc011kjk.1_Missense_Mutation_p.R450Q|STAG3_uc003uub.1_5'Flank	p.R508Q	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			15	1678	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		508					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1523G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302685	0.40795	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.21031	2.03;2.03;2.03	5.75	0.507	0.16967	Armadillo-type fold (1);	1.033030	0.07702	N	0.940542	T	0.06962	0.0177	N	0.02011	-0.69	0.19300	N	0.999978	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32719	-0.9896	10	0.39692	T	0.17	0.5629	1.4824	0.02440	0.5157:0.1338:0.2214:0.1291	.	450;508	B4DZ10;Q9UJ98	.;STAG3_HUMAN	Q	508;450;466;508	ENSP00000400359:R508Q;ENSP00000377586:R450Q;ENSP00000319318:R508Q	ENSP00000319318:R508Q	R	+	2	0	STAG3	99634876	0.254000	0.23992	0.159000	0.22649	0.798000	0.45092	1.010000	0.29898	-0.074000	0.12820	-0.295000	0.09555	CGG		0.562	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		10	49	0	0	0	0.080935	0	10	49				
SRRT	51593	broad.mit.edu	37	7	100478963	100478963	+	Silent	SNP	G	G	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr7:100478963G>A	ENST00000347433.4	+	3	338	c.180G>A	c.(178-180)cgG>cgA	p.R60R	SRRT_ENST00000457580.2_Silent_p.R60R|SRRT_ENST00000432932.1_Silent_p.R60R|SRRT_ENST00000388793.4_Silent_p.R60R			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	60	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R60R(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTATGACCGGAATCGGCGAG	0.592																																							uc003uwy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(178-180)CGG>CGA		arsenate resistance protein 2 isoform a							85.0	76.0	79.0					7																	100478963		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100478963G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.180G>A	7.37:g.100478963G>A						SRRT_uc010lhl.1_Silent_p.R60R|SRRT_uc003uxa.2_Silent_p.R60R|SRRT_uc003uwz.2_Silent_p.R60R	p.R60R	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			4	448	+			60			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.180G>A	CCDS34709.1																																																																																				0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		17	58	0	0	0	0.043863	0	17	58				
Unknown	0	broad.mit.edu	37	9	66499739	66499739	+	IGR	SNP	G	G	A	rs199935942		TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr9:66499739G>A								RP11-262H14.1 (30429 upstream) : RP11-262H14.7 (17466 downstream)																							GCCTGGGACCGTCCATTTTCG	0.602																																							uc004aee.1		NA																	0					0						c.(547-549)CCG>CCA		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499739G>A																													9.37:g.66499739G>A						LOC442421_uc004aed.1_RNA	p.P183P							1	549	+									Silent	SNP		37	c.549G>A																																																																																				0	0.602									8	60	0	0	0	0.020292	0	8	60				
PTGER4P2	5736	broad.mit.edu	37	9	66499794	66499794	+	IGR	SNP	C	C	T	rs538639564	byFrequency	TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr9:66499794C>T								RP11-262H14.1 (30484 upstream) : RP11-262H14.7 (17411 downstream)																							GTGCAAGTCGCGCAAGGAGCA	0.587													c|||	7	0.00139776	0.0045	0.0014	5008	,	,		39239	0.0		0.0	False		,,,				2504	0.0						uc004aee.1		NA																	0					0						c.(604-606)CGC>TGC		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499794C>T																													9.37:g.66499794C>T						LOC442421_uc004aed.1_RNA	p.R202C							1	604	+									Missense_Mutation	SNP		37	c.604C>T																																																																																				0	0.587									5	51	0	0	0	0.047766	0	5	51				
NUP214	8021	broad.mit.edu	37	9	134070639	134070639	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr9:134070639A>T	ENST00000359428.5	+	28	3823	c.3679A>T	c.(3679-3681)Ata>Tta	p.I1227L	NUP214_ENST00000411637.2_Missense_Mutation_p.I1217L|NUP214_ENST00000451030.1_Missense_Mutation_p.I1228L|NUP214_ENST00000465486.2_Intron|RP11-544A12.8_ENST00000502188.1_RNA|NUP214_ENST00000483497.2_Missense_Mutation_p.I53L			P35658	NU214_HUMAN	nucleoporin 214kDa	1227	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.I1227L(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTGGGATAATCACACC	0.358			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(3679-3681)ATA>TTA		nucleoporin 214kDa							256.0	241.0	246.0					9																	134070639		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134070639A>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3679A>T	9.37:g.134070639A>T	ENSP00000352400:p.Ile1227Leu					NUP214_uc004cah.2_Missense_Mutation_p.I1217L|NUP214_uc004cai.2_Missense_Mutation_p.I657L|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.I53L|NUP214_uc010mzf.2_Missense_Mutation_p.I525L|NUP214_uc011mcf.1_Intron|NUP214_uc010mzh.1_Intron|NUP214_uc010mzi.1_Intron	p.I1227L	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	28	3790	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1227			Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.3679A>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	9.614	1.132036	0.21041	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.42131	1.59;1.59;1.59;0.98	5.34	2.72	0.32119	.	0.613553	0.14583	N	0.310742	T	0.17066	0.0410	N	0.08118	0	0.20307	N	0.999911	B;B;B;B;B	0.27932	0.004;0.194;0.102;0.053;0.112	B;B;B;B;B	0.23419	0.011;0.039;0.033;0.022;0.046	T	0.22871	-1.0204	10	0.08599	T	0.76	-1.7904	5.2722	0.15630	0.7342:0.0:0.2658:0.0	.	53;1216;821;1217;1227	B7ZAV2;P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1227;1217;1228;1206;821;656;53	ENSP00000352400:I1227L;ENSP00000396576:I1217L;ENSP00000405014:I1228L;ENSP00000436793:I53L	ENSP00000352400:I1227L	I	+	1	0	NUP214	133060460	0.824000	0.29247	0.982000	0.44146	0.982000	0.71751	1.362000	0.34148	0.992000	0.38840	0.377000	0.23210	ATA		0.358	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		38	91	0	0	0	0.086207	0	38	91				
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																							uc004com.2		NA																	7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	41	0	0	0	0.014758	0	5	41				
FGD1	2245	broad.mit.edu	37	X	54497770	54497770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chrX:54497770C>T	ENST00000375135.3	-	2	1191	c.458G>A	c.(457-459)cGg>cAg	p.R153Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	153	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R153Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCCCGGTGCCCGCTTCAGTGG	0.627																																							uc004dtg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(457-459)CGG>CAG		faciogenital dysplasia protein							44.0	46.0	46.0					X																	54497770		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497770C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.458G>A	X.37:g.54497770C>T	ENSP00000364277:p.Arg153Gln					FGD1_uc011moi.1_5'Flank	p.R153Q	NM_004463	NP_004454	P98174	FGD1_HUMAN			2	1192	-			153			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.458G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498328	0.64186	.	.	ENSG00000102302	ENST00000375135	T	0.68181	-0.31	5.02	5.02	0.67125	.	0.000000	0.48767	D	0.000173	T	0.55065	0.1897	N	0.14661	0.345	0.31642	N	0.647912	D	0.64830	0.994	P	0.45167	0.472	T	0.66468	-0.5916	10	0.66056	D	0.02	-28.1503	16.4538	0.84007	0.0:1.0:0.0:0.0	.	153	P98174	FGD1_HUMAN	Q	153	ENSP00000364277:R153Q	ENSP00000364277:R153Q	R	-	2	0	FGD1	54514495	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.823000	0.62694	2.228000	0.72767	0.436000	0.28706	CGG		0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		10	57	0	0	0	0.09319	0	10	57				
CUL4B	8450	broad.mit.edu	37	X	119664014	119664014	+	Silent	SNP	T	T	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chrX:119664014T>A	ENST00000404115.3	-	21	2990	c.2589A>T	c.(2587-2589)acA>acT	p.T863T	CUL4B_ENST00000371322.5_Silent_p.T845T|CUL4B_ENST00000336592.6_Silent_p.T850T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	863					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T863T(1)|p.T845T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCTAAGTGTCTTTCTCA	0.358																																							uc004esw.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2587-2589)ACA>ACT		cullin 4B isoform 1							278.0	247.0	257.0					X																	119664014		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119664014T>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2589A>T	X.37:g.119664014T>A						CUL4B_uc010nqq.2_Silent_p.T564T|CUL4B_uc004esv.2_Silent_p.T845T	p.T863T	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			21	3026	-			863					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.2589A>T	CCDS35379.1																																																																																				0.358	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		72	356	0	0	0	0.048971	0	72	356				
F9	2158	broad.mit.edu	37	X	138630558	138630558	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chrX:138630558A>G	ENST00000218099.2	+	5	435	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	F9_ENST00000394090.2_Missense_Mutation_p.Q105R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	143	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.Q143R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGATGCGAGCAGTTTTGTAAA	0.373																																							uc004fas.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CM940499	F9	M		c.(427-429)CAG>CGG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						186.0	161.0	169.0					X																	138630558		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630558A>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.428A>G	X.37:g.138630558A>G	ENSP00000218099:p.Gln143Arg					F9_uc004fat.1_Missense_Mutation_p.Q105R	p.Q143R	NM_000133	NP_000124	P00740	FA9_HUMAN			5	457	+	Acute lymphoblastic leukemia(192;0.000127)		143			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.428A>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654647	0.29425	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.96913	-4.17;-4.17	4.94	4.94	0.65067	Epidermal growth factor-like (1);	0.114429	0.64402	D	0.000013	D	0.96426	0.8834	M	0.86953	2.85	0.30082	N	0.809087	B;P	0.38078	0.004;0.617	B;B	0.42030	0.006;0.373	D	0.95043	0.8180	9	.	.	.	.	11.7338	0.51752	1.0:0.0:0.0:0.0	.	105;143	Q5FBE1;P00740	.;FA9_HUMAN	R	143;105	ENSP00000218099:Q143R;ENSP00000377650:Q105R	.	Q	+	2	0	F9	138458224	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	6.670000	0.74467	1.742000	0.51746	0.441000	0.28932	CAG		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			32	113	0	0	0	0.050027	0	32	113				
ARHGAP4	393	broad.mit.edu	37	X	153173206	153173206	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chrX:153173206C>G	ENST00000350060.5	-	22	2859	c.2818G>C	c.(2818-2820)Gac>Cac	p.D940H	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.D980H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D762H|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D917H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D919H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	940					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.D940H(1)|p.D980H(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCGTGTCTAGGCCCTGG	0.716																																							uc004fjk.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2818-2820)GAC>CAC		Rho GTPase activating protein 4 isoform 2							10.0	13.0	12.0					X																	153173206		2095	4139	6234	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173206C>G	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2818G>C	X.37:g.153173206C>G	ENSP00000203786:p.Asp940His					ARHGAP4_uc004fjj.1_Missense_Mutation_p.D291H|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D917H|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D980H|ARHGAP4_uc010nup.1_RNA	p.D940H	NM_001666	NP_001657	P98171	RHG04_HUMAN			22	2860	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		940					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.2818G>C	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	c	15.34	2.804729	0.50315	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.10860	2.84;2.84;2.83;2.83;2.83	3.83	2.95	0.34219	.	0.000000	0.39759	N	0.001277	T	0.17450	0.0419	L	0.32530	0.975	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01652	-1.1303	10	0.87932	D	0	.	5.5366	0.17016	0.0:0.8464:0.0:0.1536	.	980;940	Q86UY3;P98171	.;RHG04_HUMAN	H	762;980;940;919;917	ENSP00000377322:D762H;ENSP00000359045:D980H;ENSP00000203786:D940H;ENSP00000359033:D919H;ENSP00000444169:D917H	ENSP00000203786:D940H	D	-	1	0	ARHGAP4	152826400	0.001000	0.12720	0.083000	0.20561	0.031000	0.12232	0.997000	0.29731	1.853000	0.53794	0.418000	0.28097	GAC		0.716	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		5	45	0	0	0	0.014758	0	5	45				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																							uc004fnw.1		NA																	5	Substitution - coding silent(5)		kidney(3)|endometrium(2)		NA						c.(910-912)CCT>CCA		WAS protein family homolog 1																																						0							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						uc004fnx.3_Silent_p.P90P	p.P304P	NM_182905	NP_878908					6	1571	+								A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37	c.912T>A																																																																																					0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		5	8	0	0	0	0.021553	0	5	8				
PDE9A	5152	broad.mit.edu	37	21	44185571	44185571	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr21:44185571delT	ENST00000291539.6	+	15	1383	c.1323delT	c.(1321-1323)aatfs	p.N441fs	PDE9A_ENST00000398225.3_Frame_Shift_Del_p.N400fs|PDE9A_ENST00000328862.6_Frame_Shift_Del_p.N415fs|PDE9A_ENST00000398234.3_Frame_Shift_Del_p.N340fs|PDE9A_ENST00000398224.3_Frame_Shift_Del_p.N314fs|PDE9A_ENST00000539837.1_Frame_Shift_Del_p.N313fs|PDE9A_ENST00000335440.6_Frame_Shift_Del_p.N339fs|PDE9A_ENST00000398227.3_Frame_Shift_Del_p.N281fs|PDE9A_ENST00000398232.3_Frame_Shift_Del_p.N374fs|PDE9A_ENST00000335512.4_Frame_Shift_Del_p.N381fs|PDE9A_ENST00000380328.2_Frame_Shift_Del_p.N388fs|PDE9A_ENST00000349112.3_Frame_Shift_Del_p.N313fs|PDE9A_ENST00000398229.3_Frame_Shift_Del_p.N307fs|PDE9A_ENST00000398236.3_Frame_Shift_Del_p.N355fs|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	441	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AAATGGAGAATTTTGACTACA	0.488																																							uc002zbm.2		NA																	0				ovary(1)|skin(1)	2						c.(1321-1323)AATfs		phosphodiesterase 9A isoform a							95.0	85.0	89.0					21																	44185571		2203	4300	6503	SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44185571delT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1323delT	21.37:g.44185571delT	ENSP00000291539:p.Asn441fs					PDE9A_uc002zbn.2_Frame_Shift_Del_p.N314fs|PDE9A_uc002zbo.2_Frame_Shift_Del_p.N388fs|PDE9A_uc002zbp.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbq.2_Frame_Shift_Del_p.N339fs|PDE9A_uc002zbs.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbr.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbt.2_Frame_Shift_Del_p.N313fs|PDE9A_uc002zbu.2_Frame_Shift_Del_p.N307fs|PDE9A_uc002zbv.2_Frame_Shift_Del_p.N281fs|PDE9A_uc002zbw.2_Frame_Shift_Del_p.N224fs|PDE9A_uc002zbx.2_Frame_Shift_Del_p.N381fs|PDE9A_uc002zby.2_Frame_Shift_Del_p.N224fs|PDE9A_uc002zbz.2_Frame_Shift_Del_p.N333fs|PDE9A_uc002zca.2_Frame_Shift_Del_p.N400fs|PDE9A_uc002zcb.2_Frame_Shift_Del_p.N415fs|PDE9A_uc002zcc.2_Frame_Shift_Del_p.N340fs|PDE9A_uc002zcd.2_Frame_Shift_Del_p.N355fs|PDE9A_uc002zce.2_Frame_Shift_Del_p.N374fs|PDE9A_uc002zcf.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zcg.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zch.2_Frame_Shift_Del_p.N224fs|PDE9A_uc010gpf.1_Frame_Shift_Del_p.N234fs	p.N441fs	NM_002606	NP_002597	O76083	PDE9A_HUMAN			15	1386	+			441			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Del	DEL	ENST00000291539.6	37	c.1323delT	CCDS13690.1																																																																																				0.488	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	30	NA	NA	NA	NA	NA	11	30	---	---	---	---
TOB2	10766	broad.mit.edu	37	22	41832900	41832915	+	Frame_Shift_Del	DEL	CAGGGAGCTGTCCTGG	CAGGGAGCTGTCCTGG	-			TCGA-55-6543-01A-11D-1753-08	TCGA-55-6543-10A-01D-1753-08	CAGGGAGCTGTCCTGG	CAGGGAGCTGTCCTGG	-	-	CAGGGAGCTGTCCTGG	CAGGGAGCTGTCCTGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6	e9484e5a-eafe-46c4-8a65-30f102f6b1f4	g.chr22:41832900_41832915delCAGGGAGCTGTCCTGG	ENST00000327492.3	-	2	1141_1156	c.435_450delCCAGGACAGCTCCCTG	c.(433-450)agccaggacagctccctgfs	p.SQDSSL145fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	145					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L150L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGGAGTTGGACAGGGAGCTGTCCTGGCTGCCAATGG	0.616																																							uc003azz.1		NA																	1	Substitution - coding silent(1)	p.L150L(1)	ovary(1)	ovary(1)	1						c.(433-450)AGCCAGGACAGCTCCCTGfs		transducer of ERBB2, 2																																				SO:0001589	frameshift_variant	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832900_41832915delCAGGGAGCTGTCCTGG	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.435_450delCCAGGACAGCTCCCTG	22.37:g.41832900_41832915delCAGGGAGCTGTCCTGG	ENSP00000331305:p.Ser145fs						p.S145fs	NM_016272	NP_057356	Q14106	TOB2_HUMAN			2	1142_1157	-			145_150					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Frame_Shift_Del	DEL	ENST00000327492.3	37	c.435_450delCCAGGACAGCTCCCTG	CCDS14015.1																																																																																				0.616	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		16	36	NA	NA	NA	NA	NA	16	36	---	---	---	---
