#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
EPPK1	83481	broad.mit.edu	37	8	144941923	144941923	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144941923C>T	ENST00000525985.1	-	2	5570	c.5499G>A	c.(5497-5499)acG>acA	p.T1833T				P58107	EPIPL_HUMAN	epiplakin 1	1833						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCAATTGTCGTGGTGATGA	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5497-5499)acG>acA		epiplakin 1							266.0	259.0	262.0					8																	144941923		2065	4209	6274	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941923C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5499G>A	8.37:g.144941923C>T							p.T1833T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5570	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1833					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5499G>A																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		235	112	0	0	0	1	0	235	112				
KDM2B	84678	broad.mit.edu	37	12	121880545	121880545	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:121880545G>A	ENST00000377071.4	-	19	2771	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.A268V|KDM2B_ENST00000377069.4_Missense_Mutation_p.A831V	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	900					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGGGGGGCGCCTCGGGCAG	0.706																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2491-2493)gCg>gTg		lysine (K)-specific demethylase 2B							10.0	11.0	11.0					12																	121880545		1877	4062	5939	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880545G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2699C>T	12.37:g.121880545G>A	ENSP00000366271:p.Ala900Val					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A900V|KDM2B_ENST00000542973.1_Missense_Mutation_p.A268V	p.A831V	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	2898	-			900					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2492C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696813	0.48202	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25579	2.12;2.45;1.79	5.97	5.08	0.68730	.	0.824585	0.10543	N	0.662465	T	0.20901	0.0503	L	0.50333	1.59	0.80722	D	1	P;B;B;B	0.43352	0.804;0.001;0.001;0.0	B;B;B;B	0.28553	0.091;0.001;0.001;0.001	T	0.04885	-1.0920	10	0.48119	T	0.1	-19.8815	10.5991	0.45356	0.0681:0.0:0.7989:0.133	.	340;900;831;343	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	V	888;268;831;900;343;903	ENSP00000437821:A268V;ENSP00000366269:A831V;ENSP00000366271:A900V	ENSP00000261824:A903V	A	-	2	0	KDM2B	120364928	1.000000	0.71417	0.876000	0.34364	0.163000	0.22366	2.614000	0.46359	1.541000	0.49316	0.655000	0.94253	GCG		0.706	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	12	0	0	0	1	0	8	12				
TUBB4A	10382	broad.mit.edu	37	19	6495442	6495442	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6495442G>A	ENST00000264071.2	-	4	1439	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.I356I			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	356					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CGCGGGGCGGGATGTCGCACA	0.612																																						ENST00000264071.2																			0											c.(1066-1068)atC>atT		tubulin, beta 4A class IVa							176.0	149.0	158.0					19																	6495442		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495442G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1068C>T	19.37:g.6495442G>A						TUBB4A_ENST00000540257.1_Silent_p.I356I	p.I356I			P04350	TBB4_HUMAN			4	1439	-			356					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.1068C>T	CCDS12168.1																																																																																				0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		6	223	0	0	0	1	0	6	223				
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	364					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433																																						ENST00000355045.2																			1	Substitution - Missense(1)	p.R364Q(1)	large_intestine(1)								c.(1090-1092)cGg>cAg		SPATA31 subfamily A, member 7							26.0	30.0	29.0					9																	65506469		939	2292	3231	SO:0001583	missense	26165							g.chr9:65506469C>T		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1091G>A	9.37:g.65506469C>T	ENSP00000347153:p.Arg364Gln						p.R364Q	NM_015667.2	NP_056482.2					4	1119	-								Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.1091G>A	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583656	0.13749	.	.	ENSG00000234734	ENST00000355045	T	0.04049	3.72	1.32	0.38	0.16222	.	0.559459	0.15054	N	0.283107	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.20767	0.031	T	0.48091	-0.9065	10	0.12103	T	0.63	0.0106	3.591	0.07989	0.0:0.7358:0.0:0.2642	.	364	Q8IWB4	F75A7_HUMAN	Q	364	ENSP00000347153:R364Q	ENSP00000347153:R364Q	R	-	2	0	FAM75A7	65246289	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.134000	0.10436	0.131000	0.18576	0.162000	0.16502	CGG		0.433	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667		12	285	0	0	0	1	0	12	285				
DCAF8L1	139425	broad.mit.edu	37	X	27997700	27997700	+	Silent	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:27997700T>C	ENST00000441525.1	-	1	1866	c.1752A>G	c.(1750-1752)tcA>tcG	p.S584S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	584										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGATGTATCTGAGGTGCTGG	0.522																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1750-1752)tcA>tcG		DDB1 and CUL4 associated factor 8-like 1							120.0	93.0	102.0					X																	27997700		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27997700T>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1752A>G	X.37:g.27997700T>C							p.S584S	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1866	-			584					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1752A>G	CCDS35222.1																																																																																				0.522	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		40	26	0	0	0	1	0	40	26				
DDX39A	10212	broad.mit.edu	37	19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A	rs374281705		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V|DDX39A_ENST00000592927.1_5'Flank	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(286-288)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87.0	65.0	73.0		287	3.7	0.0	19		73	0,8600		0,0,4300	no	missense	DDX39A	NM_005804.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/428	14523412	1,13005	2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14523412G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.287C>T	19.37:g.14523412G>A	ENSP00000242776:p.Ala96Val					DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			3	388	-			96			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.287C>T	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758792	0.69763	2.27E-4	0.0	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.39592	1.07;1.07;1.07	4.75	3.72	0.42706	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63877	0.919;0.836	T	0.64241	-0.6454	10	0.87932	D	0	-25.0003	10.6783	0.45799	0.095:0.0:0.905:0.0	.	96;96	B1Q2N1;O00148	.;DX39A_HUMAN	V	139;96;96;96	ENSP00000242776:A96V;ENSP00000322749:A96V;ENSP00000392929:A96V	ENSP00000242776:A96V	A	-	2	0	DDX39A	14384412	1.000000	0.71417	0.013000	0.15412	0.606000	0.37113	8.991000	0.93514	0.996000	0.38943	0.491000	0.48974	GCG		0.642	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		3	39	0	0	0	1	0	3	39				
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133.0	104.0	114.0					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	33	0	0	0	1	0	29	33				
PPP1R1B	84152	broad.mit.edu	37	17	37792097	37792097	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:37792097C>A	ENST00000254079.4	+	7	1063	c.594C>A	c.(592-594)tcC>tcA	p.S198S	STARD3_ENST00000544210.2_5'Flank|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000579000.1_Silent_p.S165S|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000580825.1_Silent_p.S198S|STARD3_ENST00000336308.5_5'Flank|PPP1R1B_ENST00000394267.2_Silent_p.S162S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	198					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCGCCCTTCCCCCTCTGAGC	0.627																																						ENST00000254079.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(592-594)tcC>tcA		protein phosphatase 1, regulatory (inhibitor) subunit 1B							43.0	41.0	42.0					17																	37792097		2203	4300	6503	SO:0001819	synonymous_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37792097C>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.594C>A	17.37:g.37792097C>A						PPP1R1B_ENST00000580825.1_Silent_p.S198S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000579000.1_Silent_p.S165S|PPP1R1B_ENST00000394267.2_Silent_p.S162S	p.S198S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1063	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		198					Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	c.594C>A	CCDS11339.1																																																																																				0.627	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		5	26	1	0	1	1	1	5	26				
CPT1A	1374	broad.mit.edu	37	11	68540743	68540743	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:68540743G>A	ENST00000265641.5	-	14	1884	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	577					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGTAGTGCGCCAGCTGGAG	0.552																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1729-1731)gCg>gTg		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						69.0	62.0	65.0					11																	68540743		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540743G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1730C>T	11.37:g.68540743G>A	ENSP00000265641:p.Ala577Val					CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V	p.A577V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1884	-	Esophageal squamous(3;3.28e-14)		577					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1730C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040182	0.75732	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	4.82	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.96633	3.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.937	D	0.99490	1.0950	10	0.87932	D	0	.	14.7635	0.69621	0.0:0.0:0.8543:0.1457	.	577;577	P50416;P50416-2	CPT1A_HUMAN;.	V	577	ENSP00000439084:A577V;ENSP00000365803:A577V;ENSP00000265641:A577V;ENSP00000446108:A577V	ENSP00000265641:A577V	A	-	2	0	CPT1A	68297319	1.000000	0.71417	0.816000	0.32577	0.699000	0.40488	9.398000	0.97281	1.145000	0.42336	0.297000	0.19635	GCG		0.552	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		9	36	0	0	0	1	0	9	36				
STRN3	29966	broad.mit.edu	37	14	31364637	31364637	+	Missense_Mutation	SNP	G	G	T	rs369078041		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:31364637G>T	ENST00000357479.5	-	18	2570	c.2374C>A	c.(2374-2376)Ctt>Att	p.L792I	STRN3_ENST00000355683.5_Missense_Mutation_p.L708I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	792					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTTGGCAAGAGCATCAGCT	0.388																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2122-2124)Ctt>Att		striatin, calmodulin binding protein 3							81.0	69.0	73.0					14																	31364637		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364637G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2374C>A	14.37:g.31364637G>T	ENSP00000350071:p.Leu792Ile					STRN3_ENST00000357479.5_Missense_Mutation_p.L792I	p.L708I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2337	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		792					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2122C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000378	0.93227	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.52266	1.64	0.80722	D	1	B;D	0.63880	0.207;0.993	B;D	0.70016	0.413;0.967	D	0.87667	0.2538	10	0.59425	D	0.04	-21.5326	19.43	0.94760	0.0:0.0:1.0:0.0	.	708;792	Q13033-2;Q13033	.;STRN3_HUMAN	I	708;792	ENSP00000347909:L708I;ENSP00000350071:L792I	ENSP00000347909:L708I	L	-	1	0	STRN3	30434388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.814000	0.99346	2.589000	0.87451	0.591000	0.81541	CTT		0.388	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		13	21	1	0	1.49906e-05	1	1.64603e-05	13	21				
SALL3	27164	broad.mit.edu	37	18	76754090	76754090	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:76754090C>T	ENST00000537592.2	+	2	2099	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	SALL3_ENST00000536229.3_Missense_Mutation_p.T567M|SALL3_ENST00000575389.2_Missense_Mutation_p.T700M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	700					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACTACCGGACGCACACGGGG	0.632																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1699-1701)aCg>aTg		spalt-like transcription factor 3							32.0	31.0	32.0					18																	76754090		2202	4298	6500	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754090C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2099C>T	18.37:g.76754090C>T	ENSP00000441823:p.Thr700Met					SALL3_ENST00000575389.2_Missense_Mutation_p.T700M|SALL3_ENST00000537592.2_Missense_Mutation_p.T700M	p.T567M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2409	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	700					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1700C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224324	0.22457	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.13089	2.62	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000017	T	0.34600	0.0903	L	0.56396	1.775	0.58432	D	0.999993	D;D	0.76494	0.998;0.999	P;D	0.66196	0.804;0.942	T	0.02208	-1.1195	10	0.56958	D	0.05	-41.1366	19.053	0.93053	0.0:1.0:0.0:0.0	.	432;700	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	700;700;432	ENSP00000441823:T700M	ENSP00000299466:T700M	T	+	2	0	SALL3	74855078	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.822000	0.62686	2.499000	0.84300	0.655000	0.94253	ACG		0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	30	0	0	0	1	0	8	30				
KMT2E	55904	broad.mit.edu	37	7	104753181	104753181	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:104753181C>A	ENST00000311117.3	+	27	5523	c.4978C>A	c.(4978-4980)Cat>Aat	p.H1660N	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1618N|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1660N	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1660	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AGGGCCTGTTCATGCGGTCAC	0.597																																						ENST00000334877.4																			0											c.(4852-4854)Cat>Aat		lysine (K)-specific methyltransferase 2E							100.0	93.0	95.0					7																	104753181		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753181C>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4978C>A	7.37:g.104753181C>A	ENSP00000312379:p.His1660Asn					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1660N|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1660N	p.H1618N							26	5386	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4852C>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.332186	0.24167	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93712	-3.24;-3.27;-3.24	2.95	2.95	0.34219	.	0.342033	0.20198	N	0.097145	D	0.91945	0.7449	N	0.19112	0.55	0.80722	D	1	P;D	0.57899	0.782;0.981	B;D	0.65140	0.402;0.932	D	0.88558	0.3121	10	0.15952	T	0.53	.	14.3313	0.66559	0.0:1.0:0.0:0.0	.	1580;1660	F8W6H1;Q8IZD2	.;MLL5_HUMAN	N	1660;1618;1580;1660	ENSP00000312379:H1660N;ENSP00000335599:H1618N;ENSP00000257745:H1660N	ENSP00000257745:H1660N	H	+	1	0	MLL5	104540417	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.674000	0.54598	1.620000	0.50308	0.298000	0.19748	CAT		0.597	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			3	44	1	0	1	1	1	3	44				
SCRIB	23513	broad.mit.edu	37	8	144893085	144893085	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144893085G>A	ENST00000320476.3	-	11	1270	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000356994.2_Missense_Mutation_p.P422S|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	422	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> L (in dbSNP:rs6558394). {ECO:0000269|PubMed:15649318, ECO:0000269|PubMed:15806148, ECO:0000269|PubMed:8590280, ECO:0000269|Ref.3}.		activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGGCTGGGTGGGGGCTGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1264-1266)Ccc>Tcc		scribbled planar cell polarity protein							22.0	23.0	23.0					8																	144893085		2199	4297	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893085G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1264C>T	8.37:g.144893085G>A	ENSP00000322938:p.Pro422Ser					SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P422S	p.P422S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1270	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		422		P -> L (in dbSNP:rs6558394).	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1264C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209783	0.06140	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76578	-1.03;-1.03;-1.03	4.21	2.19	0.27852	.	.	.	.	.	T	0.55386	0.1917	N	0.14661	0.345	0.31849	N	0.622493	P;B	0.36027	0.533;0.216	B;B	0.32928	0.083;0.155	T	0.54906	-0.8223	9	0.07175	T	0.84	.	10.9074	0.47088	0.0825:0.1317:0.7858:0.0	.	422;422	Q14160;Q14160-3	SCRIB_HUMAN;.	S	422;422;341	ENSP00000349486:P422S;ENSP00000322938:P422S;ENSP00000366756:P341S	ENSP00000322938:P422S	P	-	1	0	SCRIB	144965073	0.998000	0.40836	0.184000	0.23157	0.020000	0.10135	2.513000	0.45494	0.348000	0.23949	-1.598000	0.00824	CCC		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		10	38	0	0	0	1	0	10	38				
TBXA2R	6915	broad.mit.edu	37	19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:3600596G>A	ENST00000375190.4	-	2	430	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(37-39)Cgg>Tgg		thromboxane A2 receptor	Ridogrel(DB01207)						16.0	19.0	18.0					19																	3600596		1996	4140	6136	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600596G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.37C>T	19.37:g.3600596G>A	ENSP00000364336:p.Arg13Trp					TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W	p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	430	-		Hepatocellular(1079;0.137)	13					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.37C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976389	0.53720	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.37058	1.22;1.22	4.52	3.44	0.39384	.	0.188498	0.37095	U	0.002250	T	0.44180	0.1281	L	0.29908	0.895	0.36838	D	0.887221	D;D	0.89917	1.0;1.0	D;D	0.69142	0.912;0.962	T	0.50717	-0.8795	10	0.51188	T	0.08	-36.1729	11.6923	0.51523	0.0:0.0:0.8212:0.1788	.	13;13	P21731;E2QRJ2	TA2R_HUMAN;.	W	13	ENSP00000393333:R13W;ENSP00000364336:R13W	ENSP00000364336:R13W	R	-	1	2	TBXA2R	3551596	1.000000	0.71417	0.999000	0.59377	0.317000	0.28152	1.406000	0.34646	0.981000	0.38548	0.298000	0.19748	CGG		0.667	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			3	33	0	0	0	1	0	3	33				
EEFSEC	60678	broad.mit.edu	37	3	127981001	127981001	+	Silent	SNP	G	G	A	rs7625074	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:127981001G>A	ENST00000254730.6	+	3	609	c.555G>A	c.(553-555)gcG>gcA	p.A185A	EEFSEC_ENST00000483457.1_Silent_p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	185	G5. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TACCCGTGGCGGCCAAGCCGG	0.532													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.0					ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(553-555)gcG>gcA		eukaryotic elongation factor, selenocysteine-tRNA-specific		G		15,4391	23.3+/-48.9	0,15,2188	92.0	106.0	101.0		555	-10.6	0.8	3	dbSNP_116	101	0,8600		0,0,4300	yes	coding-synonymous	EEFSEC	NM_021937.3		0,15,6488	AA,AG,GG		0.0,0.3404,0.1153		185/597	127981001	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981001G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.555G>A	3.37:g.127981001G>A						EEFSEC_ENST00000483457.1_Silent_p.A185A	p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			3	609	+			185					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.555G>A	CCDS33849.1																																																																																				0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		54	113	0	0	0	1	0	54	113				
C8orf74	203076	broad.mit.edu	37	8	10557913	10557913	+	Missense_Mutation	SNP	G	G	A	rs374082262		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:10557913G>A	ENST00000304519.5	+	4	846	c.817G>A	c.(817-819)Gca>Aca	p.A273T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	273										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CACCAGCCACGCAGGCCAGGA	0.582																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(817-819)Gca>Aca		chromosome 8 open reading frame 74		G	THR/ALA	1,3885		0,1,1942	35.0	42.0	40.0		817	-1.3	0.0	8		40	0,8284		0,0,4142	no	missense	C8orf74	NM_001040032.1	58	0,1,6084	AA,AG,GG		0.0,0.0257,0.0082	benign	273/295	10557913	1,12169	1943	4142	6085	SO:0001583	missense	203076							g.chr8:10557913G>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.817G>A	8.37:g.10557913G>A	ENSP00000307129:p.Ala273Thr					RP1L1_ENST00000329335.3_Intron	p.A273T	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	846	+			273					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.817G>A	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469567	0.12461	2.57E-4	0.0	ENSG00000171060	ENST00000304519	T	0.31247	1.5	4.71	-1.27	0.09347	.	0.515969	0.18246	N	0.147093	T	0.15609	0.0376	L	0.29908	0.895	0.09310	N	1	P	0.37914	0.611	B	0.28465	0.09	T	0.12630	-1.0540	10	0.66056	D	0.02	.	7.481	0.27404	0.0:0.2914:0.5259:0.1827	.	273	Q6P047	CH074_HUMAN	T	273	ENSP00000307129:A273T	ENSP00000307129:A273T	A	+	1	0	C8orf74	10595323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.091000	0.03369	-0.037000	0.13646	-0.311000	0.09066	GCA		0.582	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		4	22	0	0	0	1	0	4	22				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	200	0	0	0	1	0	4	200				
PAPPA2	60676	broad.mit.edu	37	1	176640135	176640135	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:176640135A>G	ENST00000367662.3	+	4	3185	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	674	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGAAGGAGGCCCTGCAG	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2020-2022)gAg>gGg		pappalysin 2							175.0	175.0	175.0					1																	176640135		2019	4184	6203	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640135A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2021A>G	1.37:g.176640135A>G	ENSP00000356634:p.Glu674Gly					PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			4	3185	+			674			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2021A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908155	0.92107	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34859	4.61;1.34	5.52	5.52	0.82312	.	0.050092	0.85682	D	0.000000	T	0.57621	0.2066	L	0.61036	1.89	0.51767	D	0.999938	D;D	0.89917	0.994;1.0	D;D	0.77004	0.95;0.989	T	0.59841	-0.7378	10	0.59425	D	0.04	-25.4406	15.3027	0.73966	1.0:0.0:0.0:0.0	.	674;674	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	674	ENSP00000356634:E674G;ENSP00000356633:E674G	ENSP00000356633:E674G	E	+	2	0	PAPPA2	174906758	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.170000	0.94795	2.092000	0.63282	0.533000	0.62120	GAG		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			34	211	0	0	0	1	0	34	211				
CPEB3	22849	broad.mit.edu	37	10	93902802	93902802	+	Silent	SNP	A	A	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr10:93902802A>T	ENST00000265997.4	-	6	1609	c.1437T>A	c.(1435-1437)tcT>tcA	p.S479S	CPEB3_ENST00000412050.4_Silent_p.S465S	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	479	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GAGGAAAATAAGACTTGCTTT	0.413																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1393-1395)tcT>tcA		cytoplasmic polyadenylation element binding protein 3							104.0	102.0	103.0					10																	93902802		2203	4300	6503	SO:0001819	synonymous_variant	22849						nucleotide binding|RNA binding	g.chr10:93902802A>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1437T>A	10.37:g.93902802A>T						CPEB3_ENST00000265997.4_Silent_p.S479S	p.S465S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			6	1483	-		Colorectal(252;0.0869)	479			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	c.1395T>A	CCDS31246.1																																																																																				0.413	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		3	37	0	0	0	1	0	3	37				
PLIN4	729359	broad.mit.edu	37	19	4511994	4511994	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:4511994C>T	ENST00000301286.3	-	3	1935	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	646	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTACCTGTCGCGATATTTTGG	0.572																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1936-1938)Gcg>Acg		perilipin 4							127.0	131.0	130.0					19																	4511994		2045	4180	6225	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511994C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1936G>A	19.37:g.4511994C>T	ENSP00000301286:p.Ala646Thr						p.A646T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1935	-			646			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1936G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190840	0.58017	.	.	ENSG00000167676	ENST00000301286	T	0.03553	3.89	4.47	-8.95	0.00765	.	3.282780	0.01714	U	0.027918	T	0.03348	0.0097	L	0.51422	1.61	0.09310	N	1	P	0.39131	0.661	B	0.33042	0.157	T	0.29027	-1.0025	10	0.11794	T	0.64	-0.9116	9.9947	0.41891	0.0757:0.6424:0.1204:0.1614	.	646	Q96Q06	PLIN4_HUMAN	T	646	ENSP00000301286:A646T	ENSP00000301286:A646T	A	-	1	0	PLIN4	4462994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.446000	0.00468	-1.903000	0.01093	0.289000	0.19496	GCG		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		38	120	0	0	0	1	0	38	120				
AGXT2	64902	broad.mit.edu	37	5	35039555	35039555	+	Missense_Mutation	SNP	G	G	A	rs150835438		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:35039555G>A	ENST00000231420.6	-	3	436	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.T79M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAATATGCCGTCACCACAGG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19240	0.0		0.0	False		,,,				2504	0.0					ENST00000231420.6																			1	Substitution - Missense(1)	p.T79M(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(235-237)aCg>aTg		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	83.0	86.0	85.0		236	4.6	0.0	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	AGXT2	NM_031900.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	79/515	35039555	2,13004	2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039555G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.236C>T	5.37:g.35039555G>A	ENSP00000231420:p.Thr79Met						p.T79M	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	436	-	all_lung(31;4.52e-05)		79					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.236C>T	CCDS3908.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.84	1.462948	0.26248	4.54E-4	0.0	ENSG00000113492	ENST00000231420	T	0.19806	2.12	5.45	4.58	0.56647	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.583340	0.19101	N	0.122712	T	0.18551	0.0445	M	0.66939	2.045	0.09310	N	1	B;B	0.32573	0.376;0.109	B;B	0.23275	0.045;0.014	T	0.19712	-1.0297	10	0.33940	T	0.23	-14.8511	6.3606	0.21427	0.0753:0.1385:0.6589:0.1274	.	79;79	E9PDL7;Q9BYV1	.;AGT2_HUMAN	M	79	ENSP00000231420:T79M	ENSP00000231420:T79M	T	-	2	0	AGXT2	35075312	0.000000	0.05858	0.016000	0.15963	0.133000	0.20885	0.403000	0.20982	1.301000	0.44836	0.655000	0.94253	ACG		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		18	74	0	0	0	1	0	18	74				
C19orf25	148223	broad.mit.edu	37	19	1481849	1481849	+	5'Flank	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:1481849C>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.G726D|C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGACATGCCGCAGAGGAC	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(2176-2178)gGc>gAc		proprotein convertase subtilisin/kexin type 4							23.0	25.0	25.0					19																	1481849		2199	4296	6495	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1481849C>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481849C>T	Exception_encountered						p.G726D	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2238	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	726					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.2177G>A	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	8.154	0.788128	0.16258	.	.	ENSG00000115257	ENST00000300954	T	0.69040	-0.37	2.46	2.46	0.29980	.	.	.	.	.	T	0.47746	0.1462	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.31052	-0.9957	9	0.35671	T	0.21	.	6.2541	0.20864	0.2973:0.7027:0.0:0.0	.	726	Q6UW60	PCSK4_HUMAN	D	726	ENSP00000300954:G726D	ENSP00000300954:G726D	G	-	2	0	PCSK4	1432849	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.026000	0.03596	1.228000	0.43614	0.305000	0.20034	GGC		0.687	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	23	0	0	0	1	0	3	23				
IRAK4	51135	broad.mit.edu	37	12	44180481	44180481	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:44180481A>G	ENST00000448290.2	+	12	1418		c.e12-1		IRAK4_ENST00000431837.1_Splice_Site|IRAK4_ENST00000440781.2_Splice_Site|IRAK4_ENST00000551736.1_Splice_Site	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4						cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTTTTTAAAAGGTTCAACAG	0.308																																						ENST00000431837.1																			0											c.e11-1		interleukin-1 receptor-associated kinase 4							53.0	61.0	59.0					12																	44180481		2202	4297	6499	SO:0001630	splice_region_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180481A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1348-1A>G	12.37:g.44180481A>G						IRAK4_ENST00000448290.2_Splice_Site|IRAK4_ENST00000440781.2_Splice_Site|IRAK4_ENST00000551736.1_Splice_Site		NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	11	1283	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)						Q69FE1|Q8TDF7|Q9Y589	Splice_Site	SNP	ENST00000448290.2	37		CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334158	0.60853	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1215	0.81361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRAK4	42466748	1.000000	0.71417	0.984000	0.44739	0.650000	0.38633	6.540000	0.73861	2.208000	0.71279	0.528000	0.53228	.		0.308	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1		Intron	4	68	0	0	0	1	0	4	68				
TUBB4A	10382	broad.mit.edu	37	19	6496111	6496111	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6496111G>A	ENST00000264071.2	-	4	770	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.F133F			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	133					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGGTCAGCTGGAAGCCCTGAA	0.642																																						ENST00000264071.2																			0											c.(397-399)ttC>ttT		tubulin, beta 4A class IVa							76.0	68.0	71.0					19																	6496111		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496111G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.399C>T	19.37:g.6496111G>A						TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.F133F|TUBB4A_ENST00000598006.1_3'UTR	p.F133F			P04350	TBB4_HUMAN			4	770	-			133					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.399C>T	CCDS12168.1																																																																																				0.642	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		4	87	0	0	0	1	0	4	87				
NFIX	4784	broad.mit.edu	37	19	13189499	13189499	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:13189499G>A	ENST00000592199.1	+	7	1028	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFIX_ENST00000587760.1_Missense_Mutation_p.R335H|NFIX_ENST00000585575.1_Missense_Mutation_p.R335H|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000397661.2_Missense_Mutation_p.R343H|NFIX_ENST00000358552.3_Intron|NFIX_ENST00000587260.1_Missense_Mutation_p.R342H|NFIX_ENST00000588228.1_Missense_Mutation_p.R296H			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	343					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AGCTCCCCGCGCATGGCTTTC	0.642																																						ENST00000397661.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1027-1029)cGc>cAc		nuclear factor I/X (CCAAT-binding transcription factor)							18.0	22.0	20.0					19																	13189499		1991	4156	6147	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13189499G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1028G>A	19.37:g.13189499G>A	ENSP00000467512:p.Arg343His					NFIX_ENST00000587260.1_Missense_Mutation_p.R342H|NFIX_ENST00000588228.1_Missense_Mutation_p.R296H|NFIX_ENST00000592199.1_Missense_Mutation_p.R343H|NFIX_ENST00000587760.1_Missense_Mutation_p.R335H|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000585575.1_Missense_Mutation_p.R335H|NFIX_ENST00000358552.3_Intron	p.R343H	NM_002501.2	NP_002492.2	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		7	1258	+			343					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1028G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044953	0.75846	.	.	ENSG00000008441	ENST00000397661;ENST00000360105	T	0.42513	0.97	5.28	5.28	0.74379	.	0.156005	0.46442	D	0.000282	T	0.46054	0.1373	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.19583	0.017;0.008;0.037;0.013	B;B;B;B	0.17722	0.008;0.004;0.019;0.004	T	0.44697	-0.9311	10	0.62326	D	0.03	.	17.6817	0.88245	0.0:0.0:1.0:0.0	.	351;342;343;343	B4DHW2;Q14938-5;Q14938;Q14938-3	.;.;NFIX_HUMAN;.	H	343	ENSP00000380781:R343H	ENSP00000353219:R343H	R	+	2	0	NFIX	13050499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.554000	0.90689	2.464000	0.83262	0.603000	0.83216	CGC		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		4	7	0	0	0	1	0	4	7				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	37	0	0	0	1	0	3	37				
ICAM1	3383	broad.mit.edu	37	19	10385561	10385561	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:10385561C>T	ENST00000264832.3	+	2	513	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	63	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATAGAGACCCCGTTGCCTAAA	0.542																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(187-189)cCg>cTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						106.0	101.0	103.0					19																	10385561		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385561C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.188C>T	19.37:g.10385561C>T	ENSP00000264832:p.Pro63Leu					ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	p.P63L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	513	+			63			Ig-like C2-type 1.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.188C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741636	0.15642	.	.	ENSG00000090339	ENST00000264832	T	0.14893	2.47	4.56	-9.12	0.00707	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	24.807400	0.00166	N	0.000000	T	0.07369	0.0186	N	0.16903	0.455	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.25117	-1.0141	10	0.10377	T	0.69	5.0099	4.1595	0.10277	0.5861:0.1141:0.0806:0.2193	.	63	P05362	ICAM1_HUMAN	L	63	ENSP00000264832:P63L	ENSP00000264832:P63L	P	+	2	0	ICAM1	10246561	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.198000	0.01239	-2.374000	0.00599	-0.169000	0.13324	CCG		0.542	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			11	56	0	0	0	1	0	11	56				
UQCRB	7381	broad.mit.edu	37	8	97243340	97243340	+	Silent	SNP	C	C	T	rs34142481	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:97243340C>T	ENST00000287022.5	-	4	382	c.279G>A	c.(277-279)ccG>ccA	p.P93P	UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000518406.1_Missense_Mutation_p.R139H|UQCRB_ENST00000517523.1_3'UTR	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	93					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					CTTTCAGATACGGTTCAAGGT	0.353													C|||	4	0.000798722	0.003	0.0	5008	,	,		17679	0.0		0.0	False		,,,				2504	0.0					ENST00000518406.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(415-417)cGt>cAt		ubiquinol-cytochrome c reductase binding protein		C	,	36,4370	37.6+/-69.7	1,34,2168	80.0	91.0	87.0		183,279	-6.4	1.0	8	dbSNP_126	87	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	UQCRB	NM_001199975.1,NM_006294.3	,	1,34,6462	TT,TC,CC		0.0,0.8171,0.2771	,	61/80,93/112	97243340	36,12958	2203	4294	6497	SO:0001819	synonymous_variant	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97243340C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.279G>A	8.37:g.97243340C>T						UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000287022.5_Silent_p.P93P|UQCRB_ENST00000517523.1_3'UTR	p.R139H	NM_001254752.1	NP_001241681.1	P14927	QCR7_HUMAN			5	424	-	Breast(36;5.16e-05)		0					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.416G>A	CCDS6269.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.68	1.709477	0.30322	0.008171	0.0	ENSG00000156467	ENST00000518406	T	0.55760	0.5	5.81	-6.37	0.01963	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57745	-0.7758	6	0.87932	D	0	-14.5774	3.1811	0.06584	0.1933:0.4025:0.1033:0.3009	rs34142481	.	.	.	H	139	ENSP00000430494:R139H	ENSP00000430494:R139H	R	-	2	0	UQCRB	97312516	0.393000	0.25237	0.967000	0.41034	0.639000	0.38242	-0.583000	0.05807	-0.797000	0.04450	-0.290000	0.09829	CGT		0.353	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		4	225	0	0	0	1	0	4	225				
WNK3	65267	broad.mit.edu	37	X	54276007	54276007	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:54276007T>C	ENST00000375159.2	-	16	2773	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	WNK3_ENST00000354646.2_Missense_Mutation_p.N925S|WNK3_ENST00000375169.3_Missense_Mutation_p.N925S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	925					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGGCATGGATTATTTTCTAT	0.408																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2773-2775)aAt>aGt		WNK lysine deficient protein kinase 3							103.0	100.0	101.0					X																	54276007		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276007T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2774A>G	X.37:g.54276007T>C	ENSP00000364301:p.Asn925Ser					WNK3_ENST00000375159.2_Missense_Mutation_p.N925S|WNK3_ENST00000375169.3_Missense_Mutation_p.N925S	p.N925S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3212	-			925					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2774A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	5.514	0.279878	0.10458	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.42;-0.46;-0.46	4.72	2.16	0.27623	.	0.574322	0.16726	N	0.202052	T	0.39384	0.1076	N	0.24115	0.695	0.09310	N	1	B;B	0.32467	0.372;0.068	B;B	0.30855	0.121;0.009	T	0.22347	-1.0219	10	0.06757	T	0.87	-4.2947	1.4534	0.02380	0.1761:0.1059:0.1785:0.5396	.	925;925	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	925	ENSP00000364312:N925S;ENSP00000346667:N925S;ENSP00000364301:N925S	ENSP00000346667:N925S	N	-	2	0	WNK3	54292732	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.837000	0.27558	0.542000	0.28846	0.441000	0.28932	AAT		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		53	16	0	0	0	1	0	53	16				
OSCAR	126014	broad.mit.edu	37	19	54600377	54600377	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:54600377C>T	ENST00000284648.6	-	4	342	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	49	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCAAGGTCACGTTGACCCCA	0.602																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(145-147)Gtg>Atg		osteoclast associated, immunoglobulin-like receptor							68.0	72.0	70.0					19																	54600377		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600377C>T	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.145G>A	19.37:g.54600377C>T	ENSP00000365808:p.Val49Met					OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M|OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000391760.1_Intron	p.V49M			Q8IYS5	OSCAR_HUMAN			4	342	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		49			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	C	15.09	2.728869	0.48833	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.01215	5.16;5.16;5.16;5.16;5.16;5.16	4.05	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.209251	0.22932	U	0.053885	T	0.06188	0.0160	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0;1.0	D;P;D;D;P;D	0.75484	0.923;0.876;0.986;0.912;0.865;0.95	T	0.01448	-1.1352	10	0.87932	D	0	.	8.3272	0.32165	0.0:0.8781:0.0:0.1219	.	49;38;38;53;49;53	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	M	38;53;53;49;38;49	ENSP00000375641:V38M;ENSP00000348927:V53M;ENSP00000352671:V53M;ENSP00000351145:V49M;ENSP00000304523:V38M;ENSP00000365808:V49M	ENSP00000365808:V49M	V	-	1	0	OSCAR	59292189	0.328000	0.24687	0.995000	0.50966	0.530000	0.34684	0.314000	0.19432	2.001000	0.58596	0.585000	0.79938	GTG		0.602	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		21	54	0	0	0	1	0	21	54				
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C	rs533581140	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453													A|||	87	0.0173722	0.0333	0.0115	5008	,	,		16636	0.0099		0.007	False		,,,				2504	0.0184					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89392753A>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392753A>C										Q9HBA9	FOH1B_HUMAN			0	576	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.453	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	35	0	0	0	1	0	3	35				
SHC4	399694	broad.mit.edu	37	15	49254974	49254974	+	Missense_Mutation	SNP	G	G	A	rs144103856	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:49254974G>A	ENST00000332408.4	-	1	667	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	80	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAGTGGGGTGGGGCTCTCCTG	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15152	0.0		0.0	False		,,,				2504	0.0					ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(238-240)cCc>cTc		SHC (Src homology 2 domain containing) family, member 4		G	LEU/PRO	9,4383		0,9,2187	42.0	45.0	44.0		239	4.9	1.0	15	dbSNP_134	44	0,8590		0,0,4295	yes	missense	SHC4	NM_203349.3	98	0,9,6482	AA,AG,GG		0.0,0.2049,0.0693	benign	80/631	49254974	9,12973	2196	4295	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49254974G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.239C>T	15.37:g.49254974G>A	ENSP00000329668:p.Pro80Leu						p.P80L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	667	-		all_lung(180;0.00466)	80			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.239C>T	CCDS10130.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.549982	0.45383	0.002049	0.0	ENSG00000185634	ENST00000332408	T	0.52983	0.64	4.91	4.91	0.64330	.	0.096189	0.45606	D	0.000350	T	0.44095	0.1277	M	0.67397	2.05	0.80722	D	1	P	0.49090	0.919	B	0.35859	0.212	T	0.56547	-0.7961	10	0.72032	D	0.01	-13.4429	14.6827	0.69028	0.0:0.1459:0.8541:0.0	.	80	Q6S5L8	SHC4_HUMAN	L	80	ENSP00000329668:P80L	ENSP00000329668:P80L	P	-	2	0	SHC4	47042266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.808000	0.55598	2.543000	0.85770	0.655000	0.94253	CCC		0.637	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		5	83	0	0	0	1	0	5	83				
PHC1	1911	broad.mit.edu	37	12	9086525	9086525	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:9086525C>G	ENST00000543824.1	+	10	2290	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Missense_Mutation_p.S608C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	653					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGATGTCTCCACATTGGGT	0.468																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1822-1824)tCc>tGc		polyhomeotic homolog 1 (Drosophila)							100.0	92.0	95.0					12																	9086525		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086525C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1958C>G	12.37:g.9086525C>G	ENSP00000440674:p.Ser653Cys					PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000543824.1_Missense_Mutation_p.S653C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C|PHC1_ENST00000433847.2_3'UTR	p.S608C			P78364	PHC1_HUMAN			8	1968	+			653					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.1823C>G	CCDS8597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.548583|1.548583	0.27652|0.27652	.|.	.|.	ENSG00000111752|ENSG00000111752	ENST00000537610|ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	.|T;T;T;T;D	.|0.89343	.|1.88;1.88;1.88;1.88;-2.5	5.7|5.7	4.76|4.76	0.60689|0.60689	.|.	.|0.313431	.|0.31589	.|N	.|0.007381	T|T	0.81541|0.81541	0.4844|0.4844	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.54047	.|0.964	.|B	.|0.43783	.|0.431	T|T	0.77259|0.77259	-0.2654|-0.2654	5|10	.|0.62326	.|D	.|0.03	-7.9945|-7.9945	14.1854|14.1854	0.65603|0.65603	0.0:0.8506:0.1493:0.0|0.0:0.8506:0.1493:0.0	.|.	.|653	.|P78364	.|PHC1_HUMAN	A|C	164|653;653;608;653;259	.|ENSP00000440674:S653C;ENSP00000251757:S653C;ENSP00000399194:S608C;ENSP00000437659:S653C;ENSP00000440488:S259C	.|ENSP00000251757:S653C	P|S	+|+	1|2	0|0	PHC1|PHC1	8977792|8977792	0.021000|0.021000	0.18746|0.18746	0.063000|0.063000	0.19743|0.19743	0.785000|0.785000	0.44390|0.44390	2.999000|2.999000	0.49473|0.49473	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		12	37	0	0	0	1	0	12	37				
PCNT	5116	broad.mit.edu	37	21	47831939	47831939	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr21:47831939C>A	ENST00000359568.5	+	28	6059	c.5952C>A	c.(5950-5952)gcC>gcA	p.A1984A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1984					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTGGAGGCCTCCCATGATG	0.647																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5950-5952)gcC>gcA		pericentrin							23.0	26.0	25.0					21																	47831939		2191	4265	6456	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831939C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5952C>A	21.37:g.47831939C>A						PCNT_ENST00000480896.1_3'UTR	p.A1984A	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	6059	+	Breast(49;0.112)		1984					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.5952C>A	CCDS33592.1																																																																																				0.647	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	19	1	0	0.000602214	1	0.000636302	5	19				
ARHGEF19	128272	broad.mit.edu	37	1	16532162	16532162	+	Splice_Site	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:16532162G>A	ENST00000270747.3	-	9	1588	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	484	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTCCAGGCTGGAAAATG	0.602																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.e9-1		Rho guanine nucleotide exchange factor (GEF) 19							19.0	17.0	18.0					1																	16532162		2202	4298	6500	SO:0001630	splice_region_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532162G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1452-1C>T	1.37:g.16532162G>A						ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	p.L484_splice	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	9	1588	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	484			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Splice_Site	SNP	ENST00000270747.3	37	c.1451_splice	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680413	0.29872	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.91	2.77	0.32553	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48969	-0.8987	4	.	.	.	.	6.1681	0.20402	0.0:0.1709:0.5543:0.2748	.	.	.	.	F	173	.	.	S	-	2	0	ARHGEF19	16404749	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	1.033000	0.30191	1.007000	0.39238	0.561000	0.74099	TCC		0.602	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213	Silent	3	10	0	0	0	1	0	3	10				
SSTR3	6753	broad.mit.edu	37	22	37603776	37603776	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr22:37603776G>A	ENST00000328544.3	-	2	600	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	SSTR3_ENST00000402501.1_Missense_Mutation_p.P23S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	23					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCATCTGGGGGCCAGGCCGAG	0.637																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(67-69)Ccc>Tcc		somatostatin receptor 3							54.0	53.0	53.0					22																	37603776		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603776G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.67C>T	22.37:g.37603776G>A	ENSP00000330138:p.Pro23Ser					SSTR3_ENST00000402501.1_Missense_Mutation_p.P23S	p.P23S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	600	-			23					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.67C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	3.056	-0.194356	0.06259	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71698	-0.59;-0.59	5.09	4.08	0.47627	.	1.529280	0.04320	N	0.350542	T	0.55909	0.1950	N	0.22421	0.69	0.31666	N	0.644978	B	0.02656	0.0	B	0.04013	0.001	T	0.50242	-0.8851	10	0.11182	T	0.66	.	6.9643	0.24615	0.0933:0.1918:0.7149:0.0	.	23	P32745	SSR3_HUMAN	S	23	ENSP00000330138:P23S;ENSP00000384904:P23S	ENSP00000330138:P23S	P	-	1	0	SSTR3	35933722	0.904000	0.30761	0.947000	0.38551	0.250000	0.25880	0.571000	0.23669	1.375000	0.46248	0.557000	0.71058	CCC		0.637	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			3	42	0	0	0	1	0	3	42				
PYHIN1	149628	broad.mit.edu	37	1	158943506	158943506	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:158943506C>A	ENST00000368140.1	+	8	1674	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	477					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACTGTGGCCCCTCCTCTTTC	0.438																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1429-1431)Cct>Act		pyrin and HIN domain family, member 1							163.0	145.0	151.0					1																	158943506		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943506C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1429C>A	1.37:g.158943506C>A	ENSP00000357122:p.Pro477Thr					PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|PYHIN1_ENST00000392254.2_Intron	p.P477T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1674	+	all_hematologic(112;0.0378)		477					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1429C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205222	0.06180	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.73	-1.94	0.07571	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.16289	0.015;0.007	T	0.47649	-0.9101	9	0.87932	D	0	.	0.5922	0.00730	0.2456:0.3343:0.2427:0.1773	.	468;477	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	477;468	ENSP00000357122:P477T;ENSP00000357120:P468T	ENSP00000357120:P468T	P	+	1	0	PYHIN1	157210130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.412000	0.01039	-0.552000	0.06167	-0.265000	0.10407	CCT		0.438	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		19	101	1	0	1.96292e-10	1	2.29008e-10	19	101				
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T	rs199809056		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7360-7362)aCg>aTg		ATP-binding cassette, sub-family A (ABC1), member 13		C	MET/THR	1,3641		0,1,1820	92.0	91.0	91.0		7361	0.5	0.0	7		91	4,8138		0,4,4067	yes	missense	ABCA13	NM_152701.3	81	0,5,5887	TT,TC,CC		0.0491,0.0275,0.0424	probably-damaging	2454/5059	48318152	5,11779	1821	4071	5892	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318152C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7361C>T	7.37:g.48318152C>T	ENSP00000411096:p.Thr2454Met						p.T2454M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7385	+			2454					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7361C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369689	0.61624	2.75E-4	4.91E-4	ENSG00000179869	ENST00000435803	T	0.58358	0.34	4.92	0.517	0.17025	.	0.433637	0.19336	N	0.116762	T	0.49270	0.1547	L	0.29908	0.895	0.09310	N	0.99999	D	0.89917	1.0	P	0.61800	0.894	T	0.37009	-0.9724	10	0.45353	T	0.12	.	4.6121	0.12408	0.0:0.4649:0.2551:0.28	.	2454	Q86UQ4	ABCAD_HUMAN	M	2454	ENSP00000411096:T2454M	ENSP00000411096:T2454M	T	+	2	0	ABCA13	48288698	0.001000	0.12720	0.000000	0.03702	0.605000	0.37080	0.209000	0.17435	-0.227000	0.09884	-0.126000	0.14955	ACG		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	56	0	0	0	1	0	15	56				
IPO4	79711	broad.mit.edu	37	14	24651222	24651222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:24651222G>A	ENST00000354464.6	-	26	2922	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	916					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCATTGCTTCGCACCTCGGGG	0.647																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2746-2748)Cga>Tga		importin 4							40.0	46.0	44.0					14																	24651222		2073	4193	6266	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651222G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2746C>T	14.37:g.24651222G>A	ENSP00000346453:p.Arg916*					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R916*	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	26	2922	-			916					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.2746C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832201	0.91036	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3718	11.5134	0.50507	0.0834:0.0:0.9166:0.0	.	.	.	.	X	916;592	.	ENSP00000346453:R916X	R	-	1	2	IPO4	23721062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.472000	0.60189	2.769000	0.95229	0.563000	0.77884	CGA		0.647	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		10	31	0	0	0	1	0	10	31				
KIFAP3	22920	broad.mit.edu	37	1	169952443	169952443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:169952443G>A	ENST00000361580.2	-	13	1701	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.Q452*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	492					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATCATGCTGAGAAATGTTT	0.368																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1354-1356)Cag>Tag		kinesin-associated protein 3							66.0	63.0	64.0					1																	169952443		2203	4300	6503	SO:0001587	stop_gained	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169952443G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1474C>T	1.37:g.169952443G>A	ENSP00000354560:p.Gln492*					KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.Q492*	p.Q452*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			13	2855	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		492					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	37	c.1354C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171232	0.98688	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2772	18.5225	0.90959	0.0:0.0:1.0:0.0	.	.	.	.	X	492;452;448;194;414	.	.	Q	-	1	0	KIFAP3	168219067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.252000	0.95491	2.522000	0.85027	0.557000	0.71058	CAG		0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		13	66	0	0	0	1	0	13	66				
NAT2	10	broad.mit.edu	37	8	18257669	18257669	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:18257669A>T	ENST00000286479.3	+	2	263	c.156A>T	c.(154-156)ttA>ttT	p.L52F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	52					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AGTTGGGCTTAGAGGCTATTT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(154-156)ttA>ttT		N-acetyltransferase 2 (arylamine N-acetyltransferase)							109.0	114.0	112.0					8																	18257669		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257669A>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.156A>T	8.37:g.18257669A>T	ENSP00000286479:p.Leu52Phe					NAT2_ENST00000520116.1_Intron	p.L52F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	263	+			52					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.156A>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043019	0.08196	.	.	ENSG00000156006	ENST00000286479	T	0.02395	4.31	2.95	0.967	0.19674	.	0.000000	0.64402	D	0.000007	T	0.05960	0.0155	M	0.88450	2.955	0.37017	D	0.896026	B	0.30526	0.283	B	0.32533	0.147	T	0.04885	-1.0920	10	0.59425	D	0.04	.	4.9409	0.13965	0.7923:0.0:0.2077:0.0	.	52	A4Z6T7	.	F	52	ENSP00000286479:L52F	ENSP00000286479:L52F	L	+	3	2	NAT2	18301949	0.970000	0.33590	0.013000	0.15412	0.087000	0.18053	0.398000	0.20899	0.202000	0.20498	0.358000	0.22013	TTA		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		63	94	0	0	0	1	0	63	94				
TTC7B	145567	broad.mit.edu	37	14	91252588	91252588	+	Missense_Mutation	SNP	C	C	T	rs538272204		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:91252588C>T	ENST00000328459.6	-	2	327	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R69Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGGGGCCTCGGGGACTGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17430	0.0		0.0	False		,,,				2504	0.001					ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(205-207)cGa>cAa		tetratricopeptide repeat domain 7B							40.0	45.0	43.0					14																	91252588		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91252588C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.206G>A	14.37:g.91252588C>T	ENSP00000336127:p.Arg69Gln					TTC7B_ENST00000328459.6_Missense_Mutation_p.R69Q	p.R69Q			Q86TV6	TTC7B_HUMAN			2	327	-		Melanoma(154;0.222)	69					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.206G>A	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602859	0.46423	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.36699	1.93;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.26521	0.0648	L	0.40543	1.245	0.47094	D	0.999315	B	0.31040	0.305	B	0.22753	0.041	T	0.05716	-1.0868	10	0.13470	T	0.59	-2.7211	13.4993	0.61445	0.0:0.9251:0.0:0.0749	.	69	Q86TV6	TTC7B_HUMAN	Q	69	ENSP00000349564:R69Q;ENSP00000336127:R69Q	ENSP00000336127:R69Q	R	-	2	0	TTC7B	90322341	0.998000	0.40836	0.993000	0.49108	0.956000	0.61745	2.862000	0.48388	2.511000	0.84671	0.655000	0.94253	CGA		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			11	33	0	0	0	1	0	11	33				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	61	0	0	0	1	0	3	61				
IRAK3	11213	broad.mit.edu	37	12	66597578	66597578	+	Missense_Mutation	SNP	G	G	T	rs561056770		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:66597578G>T	ENST00000261233.4	+	2	642	c.221G>T	c.(220-222)tGg>tTg	p.W74L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATTACTTTGGTCCTGGGCA	0.423																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(220-222)tGg>tTg		interleukin-1 receptor-associated kinase 3							108.0	102.0	104.0					12																	66597578		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597578G>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.221G>T	12.37:g.66597578G>T	ENSP00000261233:p.Trp74Leu					IRAK3_ENST00000457197.2_Intron	p.W74L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	642	+			74			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.221G>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446097	0.84101	.	.	ENSG00000090376	ENST00000261233	D	0.84800	-1.9	5.93	5.93	0.95920	Death (3);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89284	0.3614	9	.	.	.	-10.6	15.8335	0.78778	0.0:0.0:1.0:0.0	.	74	Q9Y616	IRAK3_HUMAN	L	74	ENSP00000261233:W74L	.	W	+	2	0	IRAK3	64883845	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.613000	0.67688	2.818000	0.97014	0.591000	0.81541	TGG		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			17	68	1	0	1.01871e-10	1	1.21378e-10	17	68				
LOC283683	283683	broad.mit.edu	37	15	23108827	23108827	+	RNA	SNP	C	C	T	rs2570838		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:23108827C>T	ENST00000557922.1	-	0	302					NR_040057.1																						TCGTCTTCATCTTTTTTCTCT	0.393																																						ENST00000557922.1																			0																																																			0							g.chr15:23108827C>T																													15.37:g.23108827C>T								NR_040057.1						0	302	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.393	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			4	26	0	0	0	1	0	4	26				
GAD1	2571	broad.mit.edu	37	2	171693379	171693379	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr2:171693379G>A	ENST00000358196.3	+	6	1174	c.624G>A	c.(622-624)acG>acA	p.T208T	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Silent_p.T208T|GAD1_ENST00000375272.1_Silent_p.T208T	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	208					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TGACATCAACGGCCAATACCA	0.408																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(622-624)acG>acA		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109.0	90.0	96.0					2																	171693379		2203	4300	6503	SO:0001819	synonymous_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171693379G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.624G>A	2.37:g.171693379G>A						GAD1_ENST00000375272.1_Silent_p.T208T|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Silent_p.T208T	p.T208T	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			6	1174	+			208					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	c.624G>A	CCDS2239.1																																																																																				0.408	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			4	68	0	0	0	1	0	4	68				
RERE	473	broad.mit.edu	37	1	8482823	8482825	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:8482823_8482825delGAA	ENST00000337907.3	-	13	1880_1882	c.1246_1248delTTC	c.(1246-1248)ttcdel	p.F416del	RERE_ENST00000476556.1_5'UTR|RP5-1115A15.1_ENST00000444276.1_RNA|RP5-1115A15.1_ENST00000449895.1_RNA|RERE_ENST00000400908.2_In_Frame_Del_p.F416del|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000377464.1_In_Frame_Del_p.F148del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	416	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCTAATTCTGAAGAAGTTCTTC	0.399																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1246-1248)del		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8482823_8482825delGAA	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1246_1248delTTC	1.37:g.8482826_8482828delGAA	ENSP00000338629:p.Phe416del					RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_In_Frame_Del_p.F416del	p.F416del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	13	1880_1882	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	416			SANT.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.1246_1248delTTC	CCDS95.1																																																																																				0.399	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	73						17	73	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						ENST00000296358.4																			1	Deletion - In frame(1)	p.L104_W106delLLW(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(310-318)del		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	334_342	-			104					A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		9	13						9	13	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AAATGGGGACCAAAAAAAAAAA	0.351																																						ENST00000426828.1																			0																																																			0							g.chr7:64532708_64532709insA			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532719_64532719dupA								NR_033416.1						0	1228	+									RNA	INS	ENST00000426828.1	37																																																																																						0.351	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7897-7902)caaafs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	p.HK2633fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8274_8275	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	92						7	92	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33202701	33202701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:33202701delC	ENST00000559047.1	-	8	3261	c.3262delG	c.(3262-3264)gagfs	p.E1088fs	FMN1_ENST00000334528.9_Frame_Shift_Del_p.E865fs|FMN1_ENST00000561249.1_Frame_Shift_Del_p.E990fs			Q68DA7	FMN1_HUMAN	formin 1	1088	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCAGGGTCTCCAGATCAACC	0.428																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2593-2595)agfs		formin 1							54.0	53.0	53.0					15																	33202701		1891	4118	6009	SO:0001589	frameshift_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33202701delC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3262delG	15.37:g.33202701delC	ENSP00000454047:p.Glu1088fs					FMN1_ENST00000561249.1_Frame_Shift_Del_p.E990fs|FMN1_ENST00000559047.1_Frame_Shift_Del_p.E1088fs	p.E865fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	7	2592	-		all_lung(180;1.14e-07)	1088					Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37	c.2593delG																																																																																					0.428	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29490363	29490363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:29490363delT	ENST00000358273.4	+	4	831	c.448delT	c.(448-450)ttcfs	p.F150fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	150					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAACAACTTCAATGCAGT	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(448-450)tcfs		neurofibromin 1							59.0	58.0	59.0					17																	29490363		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490363delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.448delT	17.37:g.29490363delT	ENSP00000351015:p.Phe150fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs	p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	831	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	150					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.448delT	CCDS42292.1																																																																																				0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	61						15	61	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48703707	48703709	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:48703707_48703709delGAA	ENST00000359106.5	+	38	6729_6731	c.6729_6731delGAA	c.(6727-6732)ctgaag>ctg	p.K2245del	CACNA1G_ENST00000507336.1_In_Frame_Del_p.K2234del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.K2111del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.K2166del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.K2141del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.K2062del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.K2100del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.K2200del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.K2127del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.K2159del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.K2182del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.K2107del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.K2145del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.K2155del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.K2095del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.K2118del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.K2189del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.K2211del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.K2134del|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000360761.4_In_Frame_Del_p.K2129del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.K2152del|CACNA1G_ENST00000352832.5_In_Frame_Del_p.K2118del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.K2039del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.K2174del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.K2073del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2245					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACGGGACCTGAAGAAGTGCTAC	0.64											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6346-6351)ctg>ct		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703707_48703709delGAA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6729_6731delGAA	17.37:g.48703710_48703712delGAA	ENSP00000352011:p.Lys2245del		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000358244.5_In_Frame_Del_p.LK2037del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.LK2060del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.LK2093del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.LK2125del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.LK2232del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.LK2105del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.LK2153del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.LK2132del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.LK2198del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.LK2243del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.LK2187del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.LK2143del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.LK2180del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.LK2150del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.LK2157del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.LK2071del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.LK2127del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.LK2098del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.LK2209del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.LK2139del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.LK2116del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.LK2109del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.LK2164del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.LK2172del	p.LK2116del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6720_6722	+	Breast(11;6.7e-17)		2243					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.6348_6350delGAA	CCDS45730.1																																																																																				0.640	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	31						10	31	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29497560	29497560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:29497560delA	ENST00000283351.4	-	3	758	c.423delT	c.(421-423)tttfs	p.F141fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	141					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGGTTCAGAAATTCATGAT	0.318																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(421-423)ttfs		trafficking protein particle complex 8							149.0	161.0	157.0					18																	29497560		2203	4300	6503	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29497560delA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.423delT	18.37:g.29497560delA	ENSP00000283351:p.Phe141fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs|TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs	p.F141fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			3	758	-			141					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.423delT	CCDS11901.1																																																																																				0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		32	121						32	121	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153074040	153074040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:153074040delT	ENST00000164640.4	-	2	262	c.71delA	c.(70-72)aagfs	p.K24fs	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	24						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAGCTCCTTCCCGTTCAC	0.647																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(70-72)agfs		PDZ domain containing 4							39.0	31.0	34.0					X																	153074040		2198	4295	6493	SO:0001589	frameshift_variant	57595					cell cortex		g.chrX:153074040delT	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.71delA	X.37:g.153074040delT	ENSP00000164640:p.Lys24fs					PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron	p.K24fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	262	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		24					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	37	c.71delA	CCDS14732.1																																																																																				0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		2	4						2	4	---	---	---	---
