#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_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
ATRX	546	broad.mit.edu	37	X	76937357	76937357	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:76937357T>C	ENST00000373344.5	-	9	3605	c.3391A>G	c.(3391-3393)Aga>Gga	p.R1131G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1131					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTCTATTCTTTTCAGTCTC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3391-3393)Aga>Gga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						73.0	77.0	76.0					X																	76937357		2203	4286	6489	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937357T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3391A>G	X.37:g.76937357T>C	ENSP00000362441:p.Arg1131Gly					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093G	p.R1131G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3605	-			1131					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3391A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549275	0.13374	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95949	-3.86;-3.83	5.51	4.34	0.51931	.	0.141721	0.46758	N	0.000269	D	0.90109	0.6910	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.14805	0.004;0.011;0.001;0.001	B;B;B;B	0.16722	0.006;0.016;0.0;0.0	D	0.84226	0.0464	10	0.52906	T	0.07	-7.6194	8.4821	0.33049	0.0:0.089:0.0:0.911	.	1131;1063;1093;1131	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	G	1131;1093;1058	ENSP00000362441:R1131G;ENSP00000378967:R1093G	ENSP00000362441:R1131G	R	-	1	2	ATRX	76824013	0.268000	0.24133	0.799000	0.32177	0.888000	0.51559	0.729000	0.26028	0.727000	0.32360	0.417000	0.27973	AGA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		58	65	0	0	0	1	0	58	65				
FLNA	2316	broad.mit.edu	37	X	153593614	153593614	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:153593614G>A	ENST00000369850.3	-	11	1817	c.1581C>T	c.(1579-1581)cgC>cgT	p.R527R	FLNA_ENST00000344736.4_Silent_p.R527R|FLNA_ENST00000422373.1_Silent_p.R527R|FLNA_ENST00000360319.4_Silent_p.R527R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	527					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCTTCACGCGCTCCTCTC	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(1579-1581)cgC>cgT		filamin A, alpha							86.0	91.0	89.0					X																	153593614		2036	4148	6184	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593614G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1581C>T	X.37:g.153593614G>A						FLNA_ENST00000360319.4_Silent_p.R527R|FLNA_ENST00000344736.4_Silent_p.R527R|FLNA_ENST00000369850.3_Silent_p.R527R	p.R527R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			11	1829	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		527					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1581C>T	CCDS48194.1																																																																																				0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	159	0	0	0	1	0	5	159				
CIC	23152	broad.mit.edu	37	19	42793431	42793431	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42793431G>A	ENST00000575354.2	+	8	1273	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	CIC_ENST00000572681.2_Silent_p.A1320A|CIC_ENST00000160740.3_Silent_p.A411A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCTTGGCGGCCACTGGGC	0.637			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3958-3960)gcG>gcA		capicua transcriptional repressor							38.0	42.0	41.0					19																	42793431		2203	4300	6503	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793431G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1233G>A	19.37:g.42793431G>A						CIC_ENST00000160740.3_Silent_p.A411A|CIC_ENST00000575354.2_Silent_p.A411A	p.A1320A			Q96RK0	CIC_HUMAN			9	4028	+		Prostate(69;0.00682)	411					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.3960G>A	CCDS12601.1																																																																																				0.637	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			27	9	0	0	0	1	0	27	9				
DDX17	10521	broad.mit.edu	37	22	38890935	38890935	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:38890935T>C	ENST00000396821.3	-	7	1096	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	DDX17_ENST00000381633.3_Missense_Mutation_p.M254V|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	333	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAACCCCATATCAAGCATT	0.433																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(997-999)Atg>Gtg		DEAD (Asp-Glu-Ala-Asp) box helicase 17							130.0	122.0	125.0					22																	38890935		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38890935T>C	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.997A>G	22.37:g.38890935T>C	ENSP00000380033:p.Met333Val					DDX17_ENST00000381633.3_Missense_Mutation_p.M254V|DDX17_ENST00000432525.1_5'UTR	p.M333V	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			7	1096	-	Melanoma(58;0.0286)		254			Helicase C-terminal.		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.997A>G	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983524	0.74474	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.15139	2.45;2.45;2.45	5.83	5.83	0.93111	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.035753	0.85682	D	0.000000	T	0.43456	0.1248	M	0.81682	2.555	0.80722	D	1	B;D;D	0.67145	0.183;0.996;0.995	B;P;P	0.62885	0.146;0.908;0.852	T	0.44937	-0.9295	10	0.87932	D	0	-16.8471	16.2127	0.82178	0.0:0.0:0.0:1.0	.	254;335;333	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	V	333;254;333;335	ENSP00000380033:M333V;ENSP00000371046:M254V;ENSP00000385536:M333V	ENSP00000371046:M254V	M	-	1	0	DDX17	37220881	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	ATG		0.433	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		4	147	0	0	0	1	0	4	147				
TRRAP	8295	broad.mit.edu	37	7	98576479	98576479	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:98576479C>T	ENST00000359863.4	+	57	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_ENST00000355540.3_Silent_p.C2837C|TRRAP_ENST00000446306.3_Silent_p.C2837C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2855	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.C2837C(1)|p.C2855C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGGAGTGCGCCTGGCGGG	0.617																																						ENST00000359863.4																			2	Substitution - coding silent(2)	p.C2837C(1)|p.C2855C(1)	endometrium(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8563-8565)tgC>tgT		transformation/transcription domain-associated protein							75.0	78.0	77.0					7																	98576479		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98576479C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8565C>T	7.37:g.98576479C>T						TRRAP_ENST00000355540.3_Silent_p.C2837C|TRRAP_ENST00000446306.3_Silent_p.C2837C	p.C2855C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		57	8774	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2855			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.8565C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443777	0.25987	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.03	-0.483	0.12075	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51748	-0.8666	4	.	.	.	.	10.7505	0.46207	0.0:0.4332:0.0:0.5668	.	.	.	.	V	2577	.	.	A	+	2	0	TRRAP	98414415	0.995000	0.38212	0.987000	0.45799	0.991000	0.79684	0.304000	0.19228	-0.300000	0.08895	-0.302000	0.09304	GCG		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	71	0	0	0	1	0	4	71				
DPY19L2	283417	broad.mit.edu	37	12	64057543	64057543	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:64057543C>T	ENST00000324472.4	-	3	628	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	149					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E149*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333																																						ENST00000324472.4																			1	Substitution - Nonsense(1)	p.E149*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(445-447)Gaa>Aaa		dpy-19-like 2 (C. elegans)							58.0	55.0	56.0					12																	64057543		2203	4299	6502	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64057543C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.445G>A	12.37:g.64057543C>T	ENSP00000315988:p.Glu149Lys					RP11-415I12.3_ENST00000509615.2_RNA	p.E149K	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	3	628	-			149					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.445G>A	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990830	0.54041	.	.	ENSG00000177990	ENST00000324472;ENST00000538147	T;T	0.68331	-0.32;-0.32	2.5	2.5	0.30297	.	0.000000	0.85682	U	0.000000	T	0.81230	0.4779	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.83031	-0.0162	9	.	.	.	.	10.7323	0.46104	0.0:1.0:0.0:0.0	.	149	Q6NUT2	D19L2_HUMAN	K	149;6	ENSP00000315988:E149K;ENSP00000439567:E6K	.	E	-	1	0	DPY19L2	62343810	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	6.967000	0.76079	1.389000	0.46526	0.184000	0.17185	GAA		0.333	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		27	54	0	0	0	1	0	27	54				
OR10G4	390264	broad.mit.edu	37	11	123886809	123886809	+	Silent	SNP	C	C	T	rs546568617|rs3017763	byFrequency	TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:123886809C>T	ENST00000320891.4	+	1	528	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCAGCACTACTTCTGTGACG	0.557													N|||	15	0.00299521	0.0008	0.0	5008	,	,		22505	0.0		0.0	False		,,,				2504	0.0143					ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(526-528)taC>taT		olfactory receptor, family 10, subfamily G, member 4							184.0	160.0	168.0					11																	123886809		2201	4292	6493	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886809C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.528C>T	11.37:g.123886809C>T							p.Y176Y	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	528	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	176					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.528C>T	CCDS31702.1																																																																																				0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		5	225	0	0	0	1	0	5	225				
ARMCX2	9823	broad.mit.edu	37	X	100912542	100912542	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:100912542C>T	ENST00000328766.5	-	5	486	c.33G>A	c.(31-33)gcG>gcA	p.A11A	ARMCX2_ENST00000330154.2_Silent_p.A11A|ARMCX2_ENST00000356824.4_Silent_p.A11A|ARMCX2_ENST00000467416.1_5'UTR	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	11						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTATCCCCGCCGCTACACAGC	0.567																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(31-33)gcG>gcA		armadillo repeat containing, X-linked 2							60.0	64.0	63.0					X																	100912542		2203	4292	6495	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100912542C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.33G>A	X.37:g.100912542C>T						ARMCX2_ENST00000330154.2_Silent_p.A11A|ARMCX2_ENST00000356824.4_Silent_p.A11A|ARMCX2_ENST00000467416.1_5'UTR	p.A11A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	486	-			11					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.33G>A	CCDS14490.1																																																																																				0.567	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		63	100	0	0	0	1	0	63	100				
TMEM19	55266	broad.mit.edu	37	12	72091160	72091160	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:72091160C>T	ENST00000266673.5	+	4	1077	c.483C>T	c.(481-483)gtC>gtT	p.V161V	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Silent_p.V161V	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	161						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AAATCCCAGTCGATTTTTCCA	0.532																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(481-483)gtC>gtT		transmembrane protein 19							92.0	95.0	94.0					12																	72091160		2203	4300	6503	SO:0001819	synonymous_variant	55266					integral to membrane		g.chr12:72091160C>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.483C>T	12.37:g.72091160C>T						TMEM19_ENST00000549735.1_Silent_p.V161V|RP11-293I14.2_ENST00000548802.1_3'UTR	p.V161V	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	4	1077	+		Breast(359;0.0889)	161					B2RDL2|Q53FY3|Q9NV41	Silent	SNP	ENST00000266673.5	37	c.483C>T	CCDS9002.1																																																																																				0.532	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	92	0	0	0	1	0	8	92				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	57	0	0	0	1	0	3	57				
ZZEF1	23140	broad.mit.edu	37	17	3924509	3924509	+	Missense_Mutation	SNP	G	G	A	rs146431554		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:3924509G>A	ENST00000381638.2	-	45	7442	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2440							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGACTGGCCGTTCCACCTCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17393	0.0		0.001	False		,,,				2504	0.0					ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(7318-7320)Cgg>Tgg		zinc finger, ZZ-type with EF-hand domain 1		G	TRP/ARG	0,4406		0,0,2203	106.0	97.0	100.0		7318	2.8	0.0	17	dbSNP_134	100	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ZZEF1	NM_015113.3	101	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	2440/2962	3924509	7,12999	2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3924509G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7318C>T	17.37:g.3924509G>A	ENSP00000371051:p.Arg2440Trp						p.R2440W	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			45	7442	-			2440					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7318C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187617	0.21870	0.0	8.14E-4	ENSG00000074755	ENST00000381638	T	0.22134	1.97	4.83	2.78	0.32641	.	0.583037	0.17387	N	0.176079	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.32805	0.153	T	0.14254	-1.0479	10	0.72032	D	0.01	-4.6019	9.1743	0.37102	0.0:0.1522:0.562:0.2858	.	2440	O43149	ZZEF1_HUMAN	W	2440	ENSP00000371051:R2440W	ENSP00000371051:R2440W	R	-	1	2	ZZEF1	3871258	1.000000	0.71417	0.001000	0.08648	0.031000	0.12232	4.768000	0.62293	0.599000	0.29845	0.650000	0.86243	CGG		0.557	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	100	0	0	0	1	0	4	100				
NEFM	4741	broad.mit.edu	37	8	24772187	24772187	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:24772187G>C	ENST00000221166.5	+	1	1663	c.881G>C	c.(880-882)tGc>tCc	p.C294S	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.C294S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.C294S|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	294	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTTCAAATGCCGCTACGCC	0.602																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(880-882)tGc>tCc		neurofilament, medium polypeptide							97.0	81.0	86.0					8																	24772187		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772187G>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.881G>C	8.37:g.24772187G>C	ENSP00000221166:p.Cys294Ser					NEFM_ENST00000437366.2_Missense_Mutation_p.C294S|NEFM_ENST00000518131.1_Missense_Mutation_p.C294S|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA	p.C294S			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1663	+		Prostate(55;0.157)	294			Coil 2B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.881G>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129636	0.06753	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.87179	-2.22;-2.22;-2.22	4.69	3.8	0.43715	Filament (1);	0.136522	0.33110	N	0.005274	T	0.63768	0.2539	N	0.01228	-0.945	0.49687	D	0.99981	B;B	0.20988	0.05;0.0	B;B	0.28385	0.089;0.003	T	0.59810	-0.7384	10	0.05833	T	0.94	.	8.8675	0.35296	0.0802:0.151:0.7688:0.0	.	294;294	E7EMV2;P07197	.;NFM_HUMAN	S	294	ENSP00000221166:C294S;ENSP00000427872:C294S;ENSP00000410137:C294S	ENSP00000221166:C294S	C	+	2	0	NEFM	24828092	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.534000	0.60622	1.074000	0.40909	0.467000	0.42956	TGC		0.602	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		6	55	0	0	0	1	0	6	55				
GPRIN1	114787	broad.mit.edu	37	5	176026758	176026758	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr5:176026758G>A	ENST00000303991.4	-	2	255	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	26					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGAAGAAGGCTGTGGGTC	0.642																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(76-78)gcC>gcT		G protein regulated inducer of neurite outgrowth 1							26.0	30.0	29.0					5																	176026758		2195	4279	6474	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176026758G>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.78C>T	5.37:g.176026758G>A							p.A26A	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	255	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	26					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.78C>T	CCDS4405.1																																																																																				0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		20	32	0	0	0	1	0	20	32				
USP11	8237	broad.mit.edu	37	X	47104794	47104794	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:47104794G>A	ENST00000218348.3	+	17	2312	c.2312G>A	c.(2311-2313)gGg>gAg	p.G771E	USP11_ENST00000377107.2_Missense_Mutation_p.G728E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	771	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACTGCGTCGGGTACGTGATG	0.597																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(2182-2184)gGg>gAg		ubiquitin specific peptidase 11							67.0	52.0	57.0					X																	47104794		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104794G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2312G>A	X.37:g.47104794G>A	ENSP00000218348:p.Gly771Glu					USP11_ENST00000218348.3_Missense_Mutation_p.G771E	p.G728E			P51784	UBP11_HUMAN			17	2537	+			771					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2183G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	0.132	-1.112877	0.01799	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19669	2.14;2.13	5.08	4.21	0.49690	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.487719	0.21110	N	0.080002	T	0.09379	0.0231	N	0.05351	-0.065	0.35039	D	0.759541	B;B	0.22683	0.001;0.073	B;B	0.25140	0.006;0.058	T	0.19063	-1.0317	10	0.02654	T	1	-15.6431	10.4275	0.44387	0.0965:0.0:0.9035:0.0	.	497;771	B3KP28;P51784	.;UBP11_HUMAN	E	728;771	ENSP00000366311:G728E;ENSP00000218348:G771E	ENSP00000218348:G771E	G	+	2	0	USP11	46989738	0.972000	0.33761	0.004000	0.12327	0.396000	0.30629	2.484000	0.45242	0.917000	0.36895	0.436000	0.28706	GGG		0.597	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		16	38	0	0	0	1	0	16	38				
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(895-897)Ggc>Agc		purine-rich element binding protein B							72.0	77.0	76.0					7																	44924053		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924053C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.895G>A	7.37:g.44924053C>T	ENSP00000379051:p.Gly299Ser						p.G299S	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	907	-			299					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.895G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923148	0.52653	.	.	ENSG00000146676	ENST00000395699	T	0.29655	1.56	3.06	3.06	0.35304	.	0.137657	0.27549	U	0.018864	T	0.31104	0.0786	N	0.14661	0.345	0.35690	D	0.81476	D	0.89917	1.0	D	0.65684	0.937	T	0.19063	-1.0317	10	0.16896	T	0.51	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	299	Q96QR8	PURB_HUMAN	S	299	ENSP00000379051:G299S	ENSP00000379051:G299S	G	-	1	0	PURB	44890578	0.980000	0.34600	0.998000	0.56505	0.984000	0.73092	3.212000	0.51145	1.998000	0.58463	0.591000	0.81541	GGC		0.587	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		4	177	0	0	0	1	0	4	177				
ZFAND5	7763	broad.mit.edu	37	9	74970965	74970965	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:74970965G>A	ENST00000237937.3	-	6	1103	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ZFAND5_ENST00000376960.4_Silent_p.D182D|ZFAND5_ENST00000376962.5_Silent_p.D182D|ZFAND5_ENST00000343431.2_Silent_p.D182D|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	182					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AGTTGTGCTTGTCAGAGTAAC	0.378																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(544-546)gaC>gaT		zinc finger, AN1-type domain 5							92.0	90.0	91.0					9																	74970965		2203	4298	6501	SO:0001819	synonymous_variant	0						DNA binding|zinc ion binding	g.chr9:74970965G>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.546C>T	9.37:g.74970965G>A						ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Silent_p.D182D|ZFAND5_ENST00000343431.2_Silent_p.D182D|ZFAND5_ENST00000376960.4_Silent_p.D182D	p.D182D	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			6	1103	-			182					A8K484	Silent	SNP	ENST00000237937.3	37	c.546C>T	CCDS6642.1																																																																																				0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			31	39	0	0	0	1	0	31	39				
UTS2R	2837	broad.mit.edu	37	17	80332481	80332481	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:80332481C>T	ENST00000313135.2	+	1	329	c.281C>T	c.(280-282)gCg>gTg	p.A94V		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	94					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTCAACCTGGCGCTGGCCGAC	0.662																																						ENST00000313135.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(280-282)gCg>gTg		urotensin 2 receptor							57.0	40.0	46.0					17																	80332481		2202	4299	6501	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332481C>T	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.281C>T	17.37:g.80332481C>T	ENSP00000323516:p.Ala94Val						p.A94V	NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	329	+	Breast(20;0.00106)|all_neural(118;0.0804)		94					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.281C>T	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524906	0.96431	.	.	ENSG00000181408	ENST00000313135	T	0.56275	0.47	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84247	0.0475	10	0.87932	D	0	.	17.8969	0.88891	0.0:1.0:0.0:0.0	.	94	Q9UKP6	UR2R_HUMAN	V	94	ENSP00000323516:A94V	ENSP00000323516:A94V	A	+	2	0	UTS2R	77925770	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.323000	0.79105	2.519000	0.84933	0.650000	0.86243	GCG		0.662	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		7	12	0	0	0	1	0	7	12				
GTF3C3	9330	broad.mit.edu	37	2	197657737	197657737	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:197657737C>T	ENST00000263956.3	-	3	443	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GTF3C3_ENST00000409364.3_Silent_p.A118A|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACATCGCCCGCAGTGGGTT	0.403																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(352-354)gcG>gcA		general transcription factor IIIC, polypeptide 3, 102kDa							54.0	55.0	55.0					2																	197657737		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657737C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.354G>A	2.37:g.197657737C>T						GTF3C3_ENST00000409364.3_Silent_p.A118A	p.A118A	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	443	-			118					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.354G>A	CCDS2316.1																																																																																				0.403	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			16	32	0	0	0	1	0	16	32				
ZPLD1	131368	broad.mit.edu	37	3	102181219	102181219	+	Missense_Mutation	SNP	G	G	A	rs150699636		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr3:102181219G>A	ENST00000491959.1	+	13	1559	c.677G>A	c.(676-678)gGc>gAc	p.G226D	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G226D|ZPLD1_ENST00000306176.1_Missense_Mutation_p.G242D			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	226	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTGGATGGCAGGTAATTT	0.358																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(724-726)gGc>gAc		zona pellucida-like domain containing 1		G	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	50.0	54.0	52.0		725	5.3	1.0	3	dbSNP_134	52	0,8600		0,0,4300	no	missense	ZPLD1	NM_175056.1	94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	242/432	102181219	1,13005	2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102181219G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.677G>A	3.37:g.102181219G>A	ENSP00000420265:p.Gly226Asp					ZPLD1_ENST00000466937.1_Missense_Mutation_p.G226D|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G226D	p.G242D	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			6	825	+			226	N -> S (in Ref. 3; AAH31261).		ZP.		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.725G>A		.	.	.	.	.	.	.	.	.	.	G	14.97	2.693195	0.48202	2.27E-4	0.0	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82433	-1.61;-1.61;-1.61	5.33	5.33	0.75918	Zona pellucida sperm-binding protein (3);	0.094678	0.64402	D	0.000001	T	0.77370	0.4120	N	0.20685	0.6	0.53688	D	0.99997	P;B	0.41848	0.763;0.31	P;B	0.44897	0.463;0.076	T	0.74598	-0.3612	10	0.20519	T	0.43	-0.9056	19.018	0.92902	0.0:0.0:1.0:0.0	.	242;226	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	D	226;242;226	ENSP00000420265:G226D;ENSP00000307801:G242D;ENSP00000418253:G226D	ENSP00000307801:G242D	G	+	2	0	ZPLD1	103663909	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.950000	0.56676	2.473000	0.83533	0.655000	0.94253	GGC		0.358	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		12	16	0	0	0	1	0	12	16				
KIR3DL1	3811	broad.mit.edu	37	19	55285075	55285075	+	Intron	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:55285075G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V121M|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.V121M|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTGATCATAGG	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(361-363)Gtg>Atg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							203.0	183.0	189.0					19																	55285075		2174	4209	6383	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55285075G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43914G>A	19.37:g.55285075G>A						KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V121M|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	p.V121M	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	401	+			121					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.361G>A		.	.	.	.	.	.	.	.	.	.	G	0.079	-1.188030	0.01607	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00848	5.62;5.62	1.24	-2.48	0.06423	.	.	.	.	.	T	0.00845	0.0028	L	0.45051	1.395	0.09310	N	1	D;P	0.56521	0.976;0.868	B;B	0.36808	0.233;0.165	T	0.43572	-0.9383	9	0.56958	D	0.05	.	5.8834	0.18868	0.6415:0.0:0.3585:0.0	.	121;121	Q6IST4;Q6H2H3	.;.	M	121	ENSP00000336769:V121M;ENSP00000291633:V121M	ENSP00000291633:V121M	V	+	1	0	KIR2DL1	59976887	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.410000	0.02480	-1.347000	0.02208	-1.595000	0.00837	GTG		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		10	193	0	0	0	1	0	10	193				
LCE5A	254910	broad.mit.edu	37	1	152484246	152484246	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr1:152484246G>A	ENST00000334269.2	+	2	412	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	79	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCCCTCCGACGCCGACCT	0.682																																						ENST00000334269.2																			0				lung(3)|ovary(1)|prostate(3)	7						c.(235-237)cGa>cAa		late cornified envelope 5A							32.0	38.0	36.0					1																	152484246		2196	4290	6486	SO:0001583	missense	254910				keratinization			g.chr1:152484246G>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.236G>A	1.37:g.152484246G>A	ENSP00000333952:p.Arg79Gln						p.R79Q	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	412	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.236G>A	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332283	0.10956	.	.	ENSG00000186207	ENST00000334269	T	0.04049	3.72	5.09	4.18	0.49190	.	.	.	.	.	T	0.02012	0.0063	M	0.70787	2.145	0.09310	N	1	B	0.28584	0.216	B	0.13407	0.009	T	0.42103	-0.9471	9	0.18276	T	0.48	-11.0672	9.3361	0.38051	0.0969:0.0:0.9031:0.0	.	79	Q5TCM9	LCE5A_HUMAN	Q	79	ENSP00000333952:R79Q	ENSP00000333952:R79Q	R	+	2	0	LCE5A	150750870	0.003000	0.15002	0.011000	0.14972	0.007000	0.05969	1.136000	0.31467	1.367000	0.46095	0.603000	0.83216	CGA		0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		19	16	0	0	0	1	0	19	16				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	84	0	0	0	1	0	4	84				
CNTNAP4	85445	broad.mit.edu	37	16	76482070	76482070	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr16:76482070C>T	ENST00000476707.1	+	4	848	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L209L|CNTNAP4_ENST00000377504.4_Silent_p.L233L|CNTNAP4_ENST00000307431.8_Silent_p.L233L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	234	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACATCACACTGCAATTAAG	0.368																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(697-699)Ctg>Ttg		contactin associated protein-like 4							84.0	86.0	85.0					16																	76482070		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482070C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.709C>T	16.37:g.76482070C>T						CNTNAP4_ENST00000476707.1_Silent_p.L237L|CNTNAP4_ENST00000377504.4_Silent_p.L233L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L209L	p.L233L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			6	1082	+			234			Laminin G-like 1.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.697C>T																																																																																					0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		3	43	0	0	0	1	0	3	43				
MYO5C	55930	broad.mit.edu	37	15	52537632	52537632	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr15:52537632G>A	ENST00000261839.7	-	18	2258	c.2097C>T	c.(2095-2097)taC>taT	p.Y699Y	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	699	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAGAATGCCGTAGCGACTGT	0.507																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2095-2097)taC>taT		myosin VC							174.0	175.0	175.0					15																	52537632		2029	4189	6218	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52537632G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2097C>T	15.37:g.52537632G>A						MYO5C_ENST00000443683.2_3'UTR	p.Y699Y	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	18	2258	-			699			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2097C>T	CCDS42036.1																																																																																				0.507	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		4	136	0	0	0	1	0	4	136				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	20	0	0	0	1	0	36	20				
ST6GALNAC4	27090	broad.mit.edu	37	9	130672316	130672316	+	Silent	SNP	G	G	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:130672316G>C	ENST00000335791.5	-	5	908	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ST6GALNAC4_ENST00000343609.2_Silent_p.L127L|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	211					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGCCGGTGCTGAGGAAGGAGC	0.642																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(631-633)ctC>ctG		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							36.0	34.0	35.0					9																	130672316		2203	4298	6501	SO:0001819	synonymous_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130672316G>C	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.633C>G	9.37:g.130672316G>C						ST6GALNAC4_ENST00000343609.2_Silent_p.L127L|ST6GALNAC4_ENST00000495983.1_5'UTR	p.L211L	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			5	908	-			211					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	ENST00000335791.5	37	c.633C>G	CCDS6883.1																																																																																				0.642	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		14	33	0	0	0	1	0	14	33				
DNAH9	1770	broad.mit.edu	37	17	11554444	11554444	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:11554444C>A	ENST00000262442.4	+	13	2224	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P719H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	719	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACACATGCCTGAGACAGCA	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2155-2157)cCt>cAt		dynein, axonemal, heavy chain 9							126.0	126.0	126.0					17																	11554444		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11554444C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2156C>A	17.37:g.11554444C>A	ENSP00000262442:p.Pro719His					DNAH9_ENST00000454412.2_Missense_Mutation_p.P719H	p.P719H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	13	2224	+		Breast(5;0.0122)|all_epithelial(5;0.131)	719			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2156C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493211	0.64186	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.71341	-0.56;-0.56	5.53	5.53	0.82687	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89037	0.3446	10	0.87932	D	0	.	19.8195	0.96586	0.0:1.0:0.0:0.0	.	719	Q9NYC9	DYH9_HUMAN	H	719	ENSP00000262442:P719H;ENSP00000414874:P719H	ENSP00000262442:P719H	P	+	2	0	DNAH9	11495169	1.000000	0.71417	0.101000	0.21167	0.373000	0.29922	6.976000	0.76135	2.756000	0.94617	0.655000	0.94253	CCT		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		73	114	1	0	7.68447e-34	1	8.12359e-34	73	114				
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1342-1344)cGa>cTa		notch 1							50.0	57.0	55.0					9																	139412302		2182	4274	6456	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412302C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1343G>T	9.37:g.139412302C>A	ENSP00000277541:p.Arg448Leu	HNSCC(8;0.001)					p.R448L	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1418	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	448			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1343G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228692	0.79576	.	.	ENSG00000148400	ENST00000277541	D	0.94000	-3.33	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	N	0.13327	0.33	0.80722	D	1	D	0.54397	0.966	D	0.65233	0.933	D	0.91579	0.5277	10	0.27785	T	0.31	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	448	P46531	NOTC1_HUMAN	L	448	ENSP00000277541:R448L	ENSP00000277541:R448L	R	-	2	0	NOTCH1	138532123	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.877000	0.69675	2.088000	0.63022	0.462000	0.41574	CGA		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	90	1	0	5.18039e-06	1	5.18039e-06	6	90				
GDPD5	81544	broad.mit.edu	37	11	75148073	75148073	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:75148073C>T	ENST00000336898.3	-	16	2414	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	GDPD5_ENST00000533805.1_Missense_Mutation_p.R281Q|GDPD5_ENST00000526177.1_Missense_Mutation_p.R388Q|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R407Q|GDPD5_ENST00000529721.1_Missense_Mutation_p.R526Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R407Q	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	526					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTTGTAGCTCCGTATGCCACC	0.607																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1162-1164)cGg>cAg		glycerophosphodiester phosphodiesterase domain containing 5							56.0	49.0	51.0					11																	75148073		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75148073C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1577G>A	11.37:g.75148073C>T	ENSP00000337972:p.Arg526Gln					GDPD5_ENST00000533784.1_Missense_Mutation_p.R407Q|GDPD5_ENST00000533805.1_Missense_Mutation_p.R281Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R407Q|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.R526Q|GDPD5_ENST00000529721.1_Missense_Mutation_p.R526Q	p.R388Q			Q8WTR4	GDPD5_HUMAN			12	3041	-			526			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1163G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272115	0.59649	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.35048	2.39;2.4;2.43;2.43;2.4;2.4;1.33	5.15	5.15	0.70609	.	0.222293	0.37623	N	0.002019	T	0.34019	0.0883	L	0.48362	1.52	0.80722	D	1	B;B	0.23490	0.086;0.002	B;B	0.19148	0.024;0.003	T	0.08743	-1.0707	10	0.41790	T	0.15	-41.2014	16.1297	0.81418	0.0:1.0:0.0:0.0	.	407;526	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	Q	388;407;526;526;281;407;115	ENSP00000434050:R388Q;ENSP00000437049:R407Q;ENSP00000433214:R526Q;ENSP00000337972:R526Q;ENSP00000435196:R281Q;ENSP00000365459:R407Q;ENSP00000435728:R115Q	ENSP00000337972:R526Q	R	-	2	0	GDPD5	74825721	0.865000	0.29922	0.953000	0.39169	0.969000	0.65631	1.834000	0.39171	2.388000	0.81334	0.462000	0.41574	CGG		0.607	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		3	51	0	0	0	1	0	3	51				
KAL1	3730	broad.mit.edu	37	X	8503844	8503844	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:8503844G>T	ENST00000262648.3	-	12	1779	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	544					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTTAGAAAGAACATGACCT	0.483																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1630-1632)Ctt>Att		Kallmann syndrome 1 sequence							61.0	52.0	55.0					X																	8503844		2203	4298	6501	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8503844G>T		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1630C>A	X.37:g.8503844G>T	ENSP00000262648:p.Leu544Ile					KAL1_ENST00000481896.1_5'UTR	p.L544I	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			12	1779	-			544					B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1630C>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130396	0.21041	.	.	ENSG00000011201	ENST00000262648	T	0.54071	0.59	4.28	2.43	0.29744	.	0.870762	0.10119	N	0.713652	T	0.44265	0.1285	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.33420	-0.9869	10	0.22109	T	0.4	-1.8468	6.6409	0.22909	0.0995:0.3421:0.5584:0.0	.	544	P23352	KALM_HUMAN	I	544	ENSP00000262648:L544I	ENSP00000262648:L544I	L	-	1	0	KAL1	8463844	0.042000	0.20092	0.001000	0.08648	0.273000	0.26683	2.284000	0.43478	0.611000	0.30052	0.600000	0.82982	CTT		0.483	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		18	36	1	0	1.66031e-10	1	1.70642e-10	18	36				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	51	0	0	0	1	0	28	51				
THOC5	8563	broad.mit.edu	37	22	29913039	29913039	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:29913039C>T	ENST00000490103.1	-	17	1782	c.1660G>A	c.(1660-1662)Gcg>Acg	p.A554T	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Missense_Mutation_p.A554T|THOC5_ENST00000397873.2_Missense_Mutation_p.A554T|THOC5_ENST00000397871.1_Missense_Mutation_p.A554T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	554					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCGATGAGCGCCATGTAGTAG	0.537																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1660-1662)Gcg>Acg		THO complex 5							151.0	137.0	142.0					22																	29913039		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913039C>T	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1660G>A	22.37:g.29913039C>T	ENSP00000420306:p.Ala554Thr					CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A554T|THOC5_ENST00000397873.2_Missense_Mutation_p.A554T|THOC5_ENST00000397872.1_Missense_Mutation_p.A554T	p.A554T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			17	1782	-			554					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1660G>A	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147518	0.57151	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.66	5.66	0.87406	.	0.196582	0.53938	D	0.000056	T	0.22781	0.0550	L	0.54323	1.7	0.52099	D	0.999946	P	0.37441	0.595	B	0.34931	0.192	T	0.01608	-1.1313	10	0.51188	T	0.08	-19.3695	14.9119	0.70764	0.0:0.857:0.143:0.0	.	554	Q13769	THOC5_HUMAN	T	554	ENSP00000420306:A554T;ENSP00000380970:A554T;ENSP00000380969:A554T;ENSP00000380971:A554T	ENSP00000380969:A554T	A	-	1	0	THOC5	28243039	1.000000	0.71417	0.996000	0.52242	0.440000	0.31957	4.646000	0.61411	2.675000	0.91044	0.655000	0.94253	GCG		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		5	173	0	0	0	1	0	5	173				
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-	rs561001599		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	444					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1330-1335)afs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973090_25973094delTTCTT			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1331_1335delAAGAA	2.37:g.25973090_25973094delTTCTT	ENSP00000391447:p.Lys444fs					ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs	p.KE444fs			Q76L83	ASXL2_HUMAN			12	1624_1628	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		444					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1331_1335delAAGAA																																																																																					0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	376						9	376	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr10:135438960delC	ENST00000425520.1	-	4	532	c.480delG	c.(478-480)aggfs	p.R160fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.R161fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(481-483)agfs		FSHD region gene 2 family, member B							117.0	141.0	133.0					10																	135438960		2195	4299	6494	SO:0001589	frameshift_variant	441581					nucleus		g.chr10:135438960delC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.480delG	10.37:g.135438960delC	ENSP00000401310:p.Arg160fs					FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs	p.R161fs			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	532	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	160					Q5VSQ1	Frame_Shift_Del	DEL	ENST00000425520.1	37	c.483delG	CCDS44502.1																																																																																				0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		7	280						7	280	---	---	---	---
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			P46093	GPR4_HUMAN	G protein-coupled receptor 19	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1108-1110)acfs		G protein-coupled receptor 19							195.0	181.0	186.0					12																	12814274		2203	4300	6503	SO:0001589	frameshift_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814274delT		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1109delA	12.37:g.12814274delT	ENSP00000441832:p.Asn370fs					GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs	p.N370fs			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1301	-		Prostate(47;0.0802)	370					A8K3T3|B0M0K1|Q6NWM4	Frame_Shift_Del	DEL	ENST00000540510.1	37	c.1109delA	CCDS8652.1																																																																																				0.398	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		8	197						8	197	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	4						3	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	7						4	7	---	---	---	---
