#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
UGGT2	55757	broad.mit.edu	37	13	96546858	96546858	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr13:96546858C>T	ENST00000376747.3	-	24	2883	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	938					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGAGATGCACGCTTAGGCAC	0.358																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2812-2814)cGt>cAt		UDP-glucose glycoprotein glucosyltransferase 2							151.0	135.0	140.0					13																	96546858		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96546858C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2813G>A	13.37:g.96546858C>T	ENSP00000365938:p.Arg938His						p.R938H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			24	2883	-			938					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2813G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	8.639	0.895556	0.17686	.	.	ENSG00000102595	ENST00000376747	T	0.32753	1.44	4.64	-9.27	0.00659	.	0.686918	0.15367	N	0.266087	T	0.15089	0.0364	L	0.40543	1.245	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.002;0.003	T	0.08848	-1.0702	10	0.54805	T	0.06	0.5419	2.3603	0.04306	0.1552:0.2231:0.1643:0.4574	.	938;938	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	H	938	ENSP00000365938:R938H	ENSP00000365938:R938H	R	-	2	0	UGGT2	95344859	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-1.332000	0.02670	-2.846000	0.00333	-0.143000	0.13931	CGT		0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		4	147	0	0	0	1	0	4	147				
TRIP11	9321	broad.mit.edu	37	14	92466345	92466345	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:92466345T>C	ENST00000267622.4	-	12	5038	c.4665A>G	c.(4663-4665)caA>caG	p.Q1555Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1555					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCATTTGTTTTTGTTTCAGGG	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4663-4665)caA>caG		thyroid hormone receptor interactor 11							118.0	105.0	109.0					14																	92466345		2201	4300	6501	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92466345T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4665A>G	14.37:g.92466345T>C							p.Q1555Q	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	12	5038	-			1555					B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.4665A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	8.551	0.875587	0.17395	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.85	3.84	0.44239	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60747	-0.7202	4	.	.	.	.	11.5406	0.50665	0.0:0.8397:0.0:0.1603	.	.	.	.	E	1271	.	.	K	-	1	0	TRIP11	91536098	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.121000	0.41977	1.282000	0.44496	-0.408000	0.06270	AAA		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			7	81	0	0	0	1	0	7	81				
UNC79	57578	broad.mit.edu	37	14	94039083	94039083	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:94039083A>G	ENST00000393151.2	+	16	1991	c.1991A>G	c.(1990-1992)gAg>gGg	p.E664G	UNC79_ENST00000553484.1_Missense_Mutation_p.E664G|UNC79_ENST00000555664.1_Missense_Mutation_p.E664G|UNC79_ENST00000256339.4_Missense_Mutation_p.E487G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	664					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCTCAATGGAGGAGATGTTT	0.413																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1990-1992)gAg>gGg		unc-79 homolog (C. elegans)							270.0	250.0	257.0					14																	94039083		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94039083A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1991A>G	14.37:g.94039083A>G	ENSP00000376858:p.Glu664Gly					UNC79_ENST00000256339.4_Missense_Mutation_p.E487G|UNC79_ENST00000393151.2_Missense_Mutation_p.E664G|UNC79_ENST00000555664.1_Missense_Mutation_p.E664G	p.E664G			Q9P2D8	UNC79_HUMAN			16	2145	+			664					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1991A>G		.	.	.	.	.	.	.	.	.	.	A	25.9	4.686277	0.88639	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.32376	0.0827	N	0.19112	0.55	0.53005	D	0.999968	D	0.67145	0.996	D	0.75484	0.986	T	0.17048	-1.0382	10	0.66056	D	0.02	-9.4395	15.5431	0.76070	1.0:0.0:0.0:0.0	.	664	C9JQL1	.	G	487;664;664;664;664	ENSP00000256339:E487G;ENSP00000450868:E664G;ENSP00000451360:E664G;ENSP00000376858:E664G	ENSP00000256339:E487G	E	+	2	0	KIAA1409	93108836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.997000	0.93544	2.073000	0.62155	0.455000	0.32223	GAG		0.413	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		13	167	0	0	0	1	0	13	167				
APOB	338	broad.mit.edu	37	2	21228654	21228654	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:21228654T>C	ENST00000233242.1	-	26	11213	c.11086A>G	c.(11086-11088)Att>Gtt	p.I3696V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3696					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTACCAATGCTGGTGGTT	0.423																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11086-11088)Att>Gtt		apolipoprotein B	Atorvastatin(DB01076)						104.0	97.0	99.0					2																	21228654		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228654T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11086A>G	2.37:g.21228654T>C	ENSP00000233242:p.Ile3696Val						p.I3696V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11213	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3696					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11086A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470632	0.04445	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.69040	-0.37	5.28	-2.55	0.06288	.	1.398200	0.04556	N	0.390827	T	0.49474	0.1559	L	0.51422	1.61	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.25152	-1.0140	10	0.05721	T	0.95	.	1.4362	0.02344	0.1685:0.3015:0.3416:0.1883	.	3696	P04114	APOB_HUMAN	V	3696	ENSP00000233242:I3696V	ENSP00000233242:I3696V	I	-	1	0	APOB	21082159	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.363000	0.20301	0.002000	0.14630	0.533000	0.62120	ATT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	114	0	0	0	1	0	5	114				
TRBV10-1	28585	broad.mit.edu	37	7	142231795	142231795	+	RNA	SNP	G	G	A	rs371921343	byFrequency	TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:142231795G>A	ENST00000390364.3	-	0	189									T cell receptor beta variable 10-1(gene/pseudogene)																		CTGGTGACACGCCAAGGTCAC	0.493													.|||	3	0.000599042	0.0	0.0	5008	,	,		20886	0.0		0.0	False		,,,				2504	0.0031					ENST00000390364.3																			0															G		2,4060		0,2,2029	150.0	144.0	146.0			-7.1	0.0	7		146	0,8374		0,0,4187	no	intergenic				0,2,6216	AA,AG,GG		0.0,0.0492,0.0161			142231795	2,12434	2031	4187	6218			0							g.chr7:142231795G>A	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231795G>A														0	189	-									RNA	SNP	ENST00000390364.3	37																																																																																						0.493	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	NG_001333		13	134	0	0	0	1	0	13	134				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	42	0	0	0	1	0	4	42				
SOX3	6658	broad.mit.edu	37	X	139586563	139586563	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:139586563A>G	ENST00000370536.2	-	1	662	c.663T>C	c.(661-663)gaT>gaC	p.D221D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	221					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGAGTACTTATCTTTCTTGA	0.692																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(661-663)gaT>gaC		SRY (sex determining region Y)-box 3							43.0	38.0	39.0					X																	139586563		2203	4300	6503	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586563A>G		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.663T>C	X.37:g.139586563A>G							p.D221D	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	662	-	Acute lymphoblastic leukemia(192;7.65e-05)		221					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.663T>C	CCDS14669.1																																																																																				0.692	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			12	27	0	0	0	1	0	12	27				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	36	0	0	0	1	0	3	36				
KIAA1462	57608	broad.mit.edu	37	10	30317528	30317528	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr10:30317528T>C	ENST00000375377.1	-	3	1650	c.1549A>G	c.(1549-1551)Aga>Gga	p.R517G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	517					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGCGGTCTCTCTGGTTGGGG	0.652																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1549-1551)Aga>Gga		KIAA1462							75.0	78.0	77.0					10																	30317528		1983	4155	6138	SO:0001583	missense	57608							g.chr10:30317528T>C	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1549A>G	10.37:g.30317528T>C	ENSP00000364526:p.Arg517Gly						p.R517G	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1650	-			517					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1549A>G	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136336	0.56936	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.36	5.36	0.76844	.	0.225342	0.44483	D	0.000445	T	0.35038	0.0918	M	0.69823	2.125	0.45087	D	0.998101	D	0.63046	0.992	P	0.55161	0.77	T	0.13442	-1.0509	10	0.62326	D	0.03	-7.5626	15.3347	0.74241	0.0:0.0:0.0:1.0	.	517	Q9P266	K1462_HUMAN	G	517	ENSP00000364526:R517G	ENSP00000364526:R517G	R	-	1	2	KIAA1462	30357534	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	1.445000	0.35079	2.039000	0.60335	0.402000	0.26972	AGA		0.652	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		13	135	0	0	0	1	0	13	135				
AIM1L	55057	broad.mit.edu	37	1	26650676	26650676	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:26650676G>C	ENST00000308182.5	-	17	1998	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	AIM1L_ENST00000527815.1_Missense_Mutation_p.I694M			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	523	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTAGTACCAGATGCAGCTAC	0.612																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(2080-2082)atC>atG		absent in melanoma 1-like							102.0	91.0	95.0					1																	26650676		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26650676G>C			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1569C>G	1.37:g.26650676G>C	ENSP00000310435:p.Ile523Met					AIM1L_ENST00000308182.5_Missense_Mutation_p.I523M	p.I694M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	2131	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	523					B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.2082C>G		.	.	.	.	.	.	.	.	.	.	G	17.23	3.337391	0.60963	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.44083	0.93;0.93	5.46	3.57	0.40892	Ricin B-related lectin (1);Ricin B lectin (2);	0.283521	0.40144	N	0.001170	T	0.49236	0.1545	L	0.50333	1.59	0.80722	D	1	P	0.45672	0.864	P	0.56434	0.798	T	0.42292	-0.9460	10	0.52906	T	0.07	.	7.9455	0.29985	0.1422:0.1311:0.7267:0.0	.	523	Q8N1P7	AIM1L_HUMAN	M	694;523	ENSP00000433931:I694M;ENSP00000310435:I523M	ENSP00000310435:I523M	I	-	3	3	AIM1L	26523263	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.191000	0.42640	0.669000	0.31146	-0.145000	0.13849	ATC		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		6	47	0	0	0	1	0	6	47				
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:145359169T>A	ENST00000342960.5	+	72	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	595						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L3037M(7)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458																																						ENST00000342960.5																			7	Substitution - Missense(7)	p.L3037M(7)	endometrium(2)|kidney(2)|prostate(1)|NS(1)|lung(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9109-9111)Ttg>Atg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359169T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9109T>A	1.37:g.145359169T>A	ENSP00000345684:p.Leu3037Met					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.L3037M	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9144	+	all_hematologic(923;0.032)		3037					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9109T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.875	-0.730814	0.03135	.	.	ENSG00000163386	ENST00000342960	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.03959	0.0111	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.42932	-0.9422	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	M	3037	ENSP00000345684:L3037M	ENSP00000345684:L3037M	L	+	1	2	NBPF10	144070526	0.004000	0.15560	0.009000	0.14445	0.015000	0.08874	0.960000	0.29253	0.386000	0.24997	0.128000	0.15822	TTG		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	668	0	0	0	1	0	7	668				
KIAA0907	22889	broad.mit.edu	37	1	155895455	155895455	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:155895455T>C	ENST00000368321.3	-	7	884	c.861A>G	c.(859-861)cgA>cgG	p.R287R	SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Silent_p.R287R	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	287							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAAAGCTTCTCGGCCAGATG	0.478																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(859-861)cgA>cgG		KIAA0907							86.0	84.0	85.0					1																	155895455		2203	4300	6503	SO:0001819	synonymous_variant	22889							g.chr1:155895455T>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.861A>G	1.37:g.155895455T>C						KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000368321.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR	p.R287R			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		7	886	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		287					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.861A>G	CCDS30885.1																																																																																				0.478	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		28	57	0	0	0	1	0	28	57				
ANKRD20A5P	440482	broad.mit.edu	37	18	14183745	14183745	+	RNA	SNP	A	A	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr18:14183745A>T	ENST00000581935.1	+	0	596							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGACAAAGAAAATAGAACGCC	0.358																																						ENST00000581935.1																			0				lung(3)	3															91.0	90.0	90.0					18																	14183745		2203	4300	6503			0							g.chr18:14183745A>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183745A>T														0	596	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.358	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			11	281	0	0	0	1	0	11	281				
DNAJC2	27000	broad.mit.edu	37	7	102957362	102957362	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:102957362C>T	ENST00000379263.3	-	13	1592	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	448					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCCATTTCCACCTCCACCA	0.378																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1342-1344)Gga>Aga		DnaJ (Hsp40) homolog, subfamily C, member 2							179.0	164.0	169.0					7																	102957362		1867	4099	5966	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102957362C>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1342G>A	7.37:g.102957362C>T	ENSP00000368565:p.Gly448Arg					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R	p.G448R	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			13	1592	-			448					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.1342G>A	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627231	0.66901	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.70595	2.14	0.80722	D	1	B;P	0.43169	0.01;0.8	B;B	0.44315	0.027;0.446	T	0.59380	-0.7465	9	0.15952	T	0.53	-33.5435	16.1966	0.82029	0.0:0.8664:0.1336:0.0	.	395;448	Q99543-2;Q99543	.;DNJC2_HUMAN	R	395;448	.	ENSP00000249270:G395R	G	-	1	0	DNAJC2	102744598	1.000000	0.71417	0.951000	0.38953	0.831000	0.47069	5.470000	0.66756	1.333000	0.45449	0.563000	0.77884	GGA		0.378	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			23	126	0	0	0	1	0	23	126				
CMTR2	55783	broad.mit.edu	37	16	71319563	71319563	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr16:71319563C>T	ENST00000338099.5	-	3	597	c.261G>A	c.(259-261)gaG>gaA	p.E87E	CMTR2_ENST00000434935.2_Silent_p.E87E			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	87					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AAGCAGTGTGCTCATGCCACT	0.383																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(259-261)gaG>gaA									123.0	117.0	119.0					16																	71319563		2198	4300	6498	SO:0001819	synonymous_variant	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319563C>T	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.261G>A	16.37:g.71319563C>T						FTSJD1_ENST00000434935.2_Silent_p.E87E	p.E87E			Q8IYT2	FTSJ1_HUMAN			3	597	-			87					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	ENST00000338099.5	37	c.261G>A	CCDS10898.1																																																																																				0.383	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		6	109	0	0	0	1	0	6	109				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	82	0	0	0	1	0	23	82				
DLD	1738	broad.mit.edu	37	7	107559676	107559676	+	Missense_Mutation	SNP	C	C	T	rs527263746		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:107559676C>T	ENST00000205402.5	+	14	1783	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	DLD_ENST00000537148.1_Missense_Mutation_p.A402V|DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	501					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AATCTTGCTGCGTCATTTGGC	0.323													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15300	0.0		0.0	False		,,,				2504	0.0					ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(1501-1503)gCg>gTg		dihydrolipoamide dehydrogenase	NADH(DB00157)						107.0	124.0	118.0					7																	107559676		2195	4299	6494	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107559676C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1502C>T	7.37:g.107559676C>T	ENSP00000205402:p.Ala501Val					DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000537148.1_Missense_Mutation_p.A402V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V	p.A501V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			14	1783	+			501					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.1502C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358931	0.82353	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	6.04	6.04	0.98038	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.312769	0.38548	N	0.001659	D	0.93367	0.7885	L	0.31752	0.955	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;B;D	0.91635	0.999;0.252;0.999	D	0.89765	0.3950	10	0.15499	T	0.54	-3.5247	20.5948	0.99439	0.0:1.0:0.0:0.0	.	478;453;501	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	V	501;501;402;478;453;451	ENSP00000205402:A501V;ENSP00000390667:A501V;ENSP00000442399:A402V;ENSP00000417016:A478V;ENSP00000387542:A453V	ENSP00000205402:A501V	A	+	2	0	DLD	107346912	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCG		0.323	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		5	333	0	0	0	1	0	5	333				
HERC2	8924	broad.mit.edu	37	15	28413709	28413709	+	Silent	SNP	C	C	A	rs372361554		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:28413709C>A	ENST00000261609.7	-	67	10365	c.10257G>T	c.(10255-10257)ccG>ccT	p.P3419P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGGCGGCCGGCATCAGGG	0.632																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10255-10257)ccG>ccT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							30.0	31.0	31.0					15																	28413709		2203	4298	6501	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413709C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10257G>T	15.37:g.28413709C>A							p.P3419P	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10365	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3419						Silent	SNP	ENST00000261609.7	37	c.10257G>T	CCDS10021.1																																																																																				0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	49	1	0	0.115264	1	0.115264	3	49				
ARL6	84100	broad.mit.edu	37	3	97499462	97499462	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:97499462G>C	ENST00000463745.1	+	4	666	c.189G>C	c.(187-189)ttG>ttC	p.L63F	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	63					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTAGTTTGTCATTTACAG	0.289																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(187-189)ttG>ttC		ADP-ribosylation factor-like 6							148.0	151.0	150.0					3																	97499462		2203	4296	6499	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499462G>C	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.189G>C	3.37:g.97499462G>C	ENSP00000419619:p.Leu63Phe					ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F	p.L63F	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	4	666	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	63					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.189G>C	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621056	0.46736	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.34	1.33	0.21861	Small GTP-binding protein domain (1);	0.335977	0.31246	N	0.007994	T	0.75917	0.3915	L	0.49126	1.545	0.49798	D	0.999826	D	0.89917	1.0	D	0.77557	0.99	T	0.76719	-0.2856	10	0.87932	D	0	.	15.0929	0.72211	0.129:0.0:0.871:0.0	.	63	Q9H0F7	ARL6_HUMAN	F	63	ENSP00000419619:L63F;ENSP00000418740:L63F;ENSP00000337722:L63F;ENSP00000377756:L63F	ENSP00000337722:L63F	L	+	3	2	ARL6	98982152	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	1.384000	0.34396	0.026000	0.15269	-0.994000	0.02522	TTG		0.289	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		16	52	0	0	0	1	0	16	52				
GPR133	283383	broad.mit.edu	37	12	131620642	131620642	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:131620642C>T	ENST00000261654.5	+	22	2887	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	GPR133_ENST00000376682.4_Silent_p.G462G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000543617.1_Silent_p.G295G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCTTTGGCGTGCTTGCTG	0.617																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2326-2328)ggC>ggT		G protein-coupled receptor 133							279.0	178.0	212.0					12																	131620642		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131620642C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2328C>T	12.37:g.131620642C>T						GPR133_ENST00000376682.4_Silent_p.G462G|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.G295G	p.G776G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	22	2887	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		776					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2328C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	1.257	-0.616967	0.03663	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	4	.	.	.	.	0.5355	0.00636	0.2584:0.2041:0.1478:0.3897	.	.	.	.	V	130	.	.	A	+	2	0	GPR133	130186595	0.000000	0.05858	0.059000	0.19551	0.306000	0.27790	-5.018000	0.00159	-2.186000	0.00760	-0.658000	0.03865	GCG		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		4	41	0	0	0	1	0	4	41				
SLC22A16	85413	broad.mit.edu	37	6	110778052	110778052	+	Silent	SNP	G	G	A	rs538642389		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:110778052G>A	ENST00000368919.3	-	2	288	c.222C>T	c.(220-222)acC>acT	p.T74T	SLC22A16_ENST00000439654.1_Silent_p.T74T|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	74					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ACAGGGCCCCGGTGTCCTCCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17351	0.0		0.0	False		,,,				2504	0.001					ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(220-222)acC>acT		solute carrier family 22 (organic cation/carnitine transporter), member 16							108.0	113.0	112.0					6																	110778052		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778052G>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.222C>T	6.37:g.110778052G>A						SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Silent_p.T74T	p.T74T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	288	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	74					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.222C>T	CCDS5084.1																																																																																				0.507	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		4	92	0	0	0	1	0	4	92				
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C|MYO1A_ENST00000544473.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(91-93)Cgc>Tgc		myosin IA							84.0	73.0	77.0					12																	57442017		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57442017G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.91C>T	12.37:g.57442017G>A	ENSP00000393392:p.Arg31Cys					MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C	p.R31C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			3	378	-			31			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.91C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550512	0.65311	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000433964	D;D;D	0.84944	-1.92;-1.92;-1.92	4.76	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.94676	0.8283	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94898	0.8054	10	0.87932	D	0	.	9.7862	0.40677	0.0:0.0:0.6726:0.3274	.	31	Q9UBC5	MYO1A_HUMAN	C	31	ENSP00000300119:R31C;ENSP00000393392:R31C;ENSP00000400991:R31C	ENSP00000300119:R31C	R	-	1	0	MYO1A	55728284	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	3.816000	0.55658	2.368000	0.80403	0.462000	0.41574	CGC		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		15	26	0	0	0	1	0	15	26				
F13B	2165	broad.mit.edu	37	1	197021808	197021808	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:197021808T>C	ENST00000367412.1	-	9	1554	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	504	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTGTTGCACTGCACAGATAA	0.338																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1510-1512)cAg>cGg		coagulation factor XIII, B polypeptide							97.0	97.0	97.0					1																	197021808		2203	4295	6498	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021808T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1511A>G	1.37:g.197021808T>C	ENSP00000356382:p.Gln504Arg						p.Q504R	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			9	1554	-			504			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1511A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.512798	0.00975	.	.	ENSG00000143278	ENST00000367412	D	0.83837	-1.77	5.47	0.482	0.16815	Complement control module (1);	0.561393	0.13538	N	0.380447	T	0.68302	0.2986	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46871	-0.9160	10	0.11485	T	0.65	.	1.5666	0.02605	0.1149:0.1926:0.2377:0.4548	.	504	P05160	F13B_HUMAN	R	504	ENSP00000356382:Q504R	ENSP00000356382:Q504R	Q	-	2	0	F13B	195288431	0.906000	0.30813	0.681000	0.30009	0.312000	0.27988	0.365000	0.20348	0.040000	0.15660	-0.274000	0.10170	CAG		0.338	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		27	82	0	0	0	1	0	27	82				
VPS13A	23230	broad.mit.edu	37	9	79986031	79986031	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr9:79986031G>T	ENST00000360280.3	+	67	9303	c.9043G>T	c.(9043-9045)Gac>Tac	p.D3015Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3015					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGCATCATAGACATGGCTAG	0.418																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(9043-9045)Gac>Tac		vacuolar protein sorting 13 homolog A (S. cerevisiae)							101.0	92.0	95.0					9																	79986031		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79986031G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9043G>T	9.37:g.79986031G>T	ENSP00000353422:p.Asp3015Tyr					VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y	p.D3015Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			67	9303	+			3015					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.9043G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700726	0.88924	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.61158	0.36;0.13;0.22;0.35	5.77	5.77	0.91146	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	H	0.97390	3.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.89884	0.4032	9	.	.	.	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	2976;3015;3015;3015	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	3015;2976;3015;3015	ENSP00000365821:D3015Y;ENSP00000365823:D2976Y;ENSP00000353422:D3015Y;ENSP00000349985:D3015Y	.	D	+	1	0	VPS13A	79175851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAC		0.418	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	65	1	0	1.23904e-05	1	1.29411e-05	5	65				
ETHE1	23474	broad.mit.edu	37	19	44030437	44030437	+	Silent	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:44030437G>A	ENST00000292147.2	-	3	357	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000600651.1_Silent_p.G97G	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	97					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CAGACTGGCAGCCAGGGAGGA	0.622																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(289-291)ggC>ggT		ethylmalonic encephalopathy 1							65.0	59.0	61.0					19																	44030437		2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44030437G>A		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.291C>T	19.37:g.44030437G>A						ETHE1_ENST00000292147.2_Silent_p.G97G|ZNF575_ENST00000458714.2_Intron	p.G97G			O95571	ETHE1_HUMAN			3	314	-		Prostate(69;0.0153)	97					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.291C>T	CCDS12622.1																																																																																				0.622	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		5	47	0	0	0	1	0	5	47				
MYO1E	4643	broad.mit.edu	37	15	59453404	59453404	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:59453404T>C	ENST00000288235.4	-	24	3052	c.2653A>G	c.(2653-2655)Aac>Gac	p.N885D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	885	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCCCCAGTTTTCCTTTTTC	0.567											OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(2653-2655)Aac>Gac		myosin IE							33.0	37.0	36.0					15																	59453404		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59453404T>C	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2653A>G	15.37:g.59453404T>C	ENSP00000288235:p.Asn885Asp		OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1038		p.N885D	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	24	3052	-			885					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.2653A>G	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922486	0.52653	.	.	ENSG00000157483	ENST00000288235	D	0.86297	-2.1	5.04	5.04	0.67666	Myosin tail 2 (1);	0.283820	0.43579	D	0.000555	T	0.81983	0.4938	L	0.38531	1.155	0.41313	D	0.987122	B	0.02656	0.0	B	0.08055	0.003	T	0.78191	-0.2300	10	0.42905	T	0.14	.	14.9394	0.70980	0.0:0.0:0.0:1.0	.	885	Q12965	MYO1E_HUMAN	D	885	ENSP00000288235:N885D	ENSP00000288235:N885D	N	-	1	0	MYO1E	57240696	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.040000	0.57333	2.127000	0.65507	0.459000	0.35465	AAC		0.567	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		10	40	0	0	0	1	0	10	40				
LTV1	84946	broad.mit.edu	37	6	144184292	144184292	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:144184292G>A	ENST00000367576.5	+	10	1320	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	396						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGGACTCACAGCAAAGCAAAC	0.348																																						ENST00000367576.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(1186-1188)Gca>Aca		LTV1 homolog (S. cerevisiae)							87.0	91.0	89.0					6																	144184292		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144184292G>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1186G>A	6.37:g.144184292G>A	ENSP00000356548:p.Ala396Thr						p.A396T	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	10	1320	+			396					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.1186G>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776338	0.31411	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.4	3.6	0.41247	.	0.099762	0.64402	N	0.000002	T	0.42562	0.1208	M	0.75447	2.3	0.52501	D	0.99995	B	0.12630	0.006	B	0.23852	0.049	T	0.40421	-0.9564	9	0.14252	T	0.57	8.0E-4	11.9612	0.53009	0.1424:0.0:0.8576:0.0	.	396	Q96GA3	LTV1_HUMAN	T	396	.	ENSP00000356548:A396T	A	+	1	0	LTV1	144225985	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.271000	0.72569	0.644000	0.30656	0.585000	0.79938	GCA		0.348	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		4	134	0	0	0	1	0	4	134				
TUBB8P7	197331	broad.mit.edu	37	16	90162556	90162556	+	RNA	SNP	G	G	A	rs532637415	byFrequency	TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr16:90162556G>A	ENST00000564451.1	+	0	1909				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.E430*(1)									TGCCACGGCCGAGGAGGAGGA	0.517																																						ENST00000564451.1																			1	Substitution - Nonsense(1)	p.E430*(1)	lung(1)																																																0							g.chr16:90162556G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162556G>A						TUBB8P7_ENST00000567960.1_RNA								0	1909	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.517	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	122	0	0	0	1	0	4	122				
CDC5L	988	broad.mit.edu	37	6	44394423	44394423	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:44394423A>C	ENST00000371477.3	+	13	2154	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	619	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGGAACATAATCCTTATGA	0.363																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1855-1857)Aat>Cat		cell division cycle 5-like							92.0	90.0	90.0					6																	44394423		2203	4298	6501	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44394423A>C	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1855A>C	6.37:g.44394423A>C	ENSP00000360532:p.Asn619His						p.N619H	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	2154	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		619			Interaction with DAPK3 (By similarity).		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1855A>C	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	8.065	0.769043	0.15983	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	5.71	5.71	0.89125	.	0.367187	0.34986	N	0.003530	T	0.12774	0.0310	N	0.05383	-0.06	0.39606	D	0.969812	B	0.02656	0.0	B	0.04013	0.001	T	0.06144	-1.0843	10	0.33940	T	0.23	-12.2089	14.5754	0.68243	1.0:0.0:0.0:0.0	.	619	Q99459	CDC5L_HUMAN	H	619	ENSP00000360532:N619H	ENSP00000360532:N619H	N	+	1	0	CDC5L	44502401	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.843000	0.75384	2.191000	0.70037	0.528000	0.53228	AAT		0.363	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			16	70	0	0	0	1	0	16	70				
CXorf38	159013	broad.mit.edu	37	X	40506561	40506561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:40506561C>T	ENST00000327877.5	-	1	238	c.212G>A	c.(211-213)cGc>cAc	p.R71H	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H|CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	71										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCTCACCTGGCGGGCGCGAGG	0.751																																						ENST00000327877.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(211-213)cGc>cAc		chromosome X open reading frame 38							2.0	3.0	2.0					X																	40506561		1198	2519	3717	SO:0001583	missense	159013							g.chrX:40506561C>T	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.212G>A	X.37:g.40506561C>T	ENSP00000330488:p.Arg71His					CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR	p.R71H	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN			1	238	-			71					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.212G>A	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.782728	0.70222	.	.	ENSG00000185753	ENST00000327877;ENST00000440784;ENST00000378418	T;T;T	0.52983	0.64;0.64;0.64	4.59	2.83	0.33086	.	0.355919	0.29466	N	0.012077	T	0.37598	0.1009	L	0.60455	1.87	0.31982	N	0.605763	B;P	0.36587	0.2;0.559	B;B	0.28305	0.037;0.088	T	0.48736	-0.9009	10	0.56958	D	0.05	-7.5918	8.5883	0.33670	0.0:0.7609:0.1503:0.0888	.	71;71	E7EN46;Q8TB03	.;CX038_HUMAN	H	71	ENSP00000330488:R71H;ENSP00000400019:R71H;ENSP00000367674:R71H	ENSP00000330488:R71H	R	-	2	0	CXorf38	40391505	1.000000	0.71417	0.993000	0.49108	0.474000	0.32979	0.795000	0.26972	0.495000	0.27882	-0.178000	0.13098	CGC		0.751	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		4	12	0	0	0	1	0	4	12				
SNHG14	104472715	broad.mit.edu	37	15	25468207	25468207	+	RNA	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:25468207T>C	ENST00000424208.1	+	0	6332				SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNORD115-30_ENST00000364117.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCCCCCAGATGGTGAGACTT	0.597																																						ENST00000453082.2																			0																																																			0							g.chr15:25468207T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468207T>C								NR_003343.1						0	755	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.597	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			4	13	0	0	0	1	0	4	13				
KDF1	126695	broad.mit.edu	37	1	27278347	27278347	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:27278347C>T	ENST00000320567.5	-	2	613	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		175					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTGGCCCTCGGGTAGGGAT	0.647																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(523-525)ccG>ccA		chromosome 1 open reading frame 172							46.0	53.0	51.0					1																	27278347		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278347C>T																												ENST00000320567.5:c.525G>A	1.37:g.27278347C>T							p.P175P	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	613	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	175					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.525G>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.694488	0.00731	.	.	ENSG00000175707	ENST00000374109	.	.	.	5.05	0.923	0.19413	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.22629	N	0.998918	.	.	.	.	.	.	T	0.25082	-1.0142	5	0.27785	T	0.31	.	6.7027	0.23234	0.182:0.4287:0.3893:0.0	.	.	.	.	Q	136	.	ENSP00000363223:R136Q	R	-	2	0	C1orf172	27150934	0.482000	0.25948	0.606000	0.28943	0.014000	0.08584	0.561000	0.23515	0.324000	0.23333	-0.772000	0.03388	CGA		0.647	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			14	42	0	0	0	1	0	14	42				
PI4KA	5297	broad.mit.edu	37	22	21062373	21062373	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr22:21062373C>T	ENST00000572273.1	-	55	6327	c.6097G>A	c.(6097-6099)Gac>Aac	p.D2033N	PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000255882.6_Missense_Mutation_p.D2091N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	2033					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGATCATGTCGTAGGTCCGG	0.587																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(6271-6273)Gac>Aac		phosphatidylinositol 4-kinase, catalytic, alpha							196.0	168.0	178.0					22																	21062373		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21062373C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.6097G>A	22.37:g.21062373C>T	ENSP00000458238:p.Asp2033Asn					PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D2033N	p.D2091N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		55	6357	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	2033					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.6271G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.558119	0.96514	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.51574	0.7;0.7	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.79185	0.4403	H	0.96111	3.77	0.80722	D	1	P;D	0.89917	0.807;1.0	B;D	0.73380	0.253;0.98	D	0.86254	0.1651	10	0.87932	D	0	-27.8408	18.462	0.90741	0.0:1.0:0.0:0.0	.	424;2033	A8MTF1;P42356	.;PI4KA_HUMAN	N	2033;843;424	ENSP00000402981:D843N;ENSP00000382162:D424N	ENSP00000255882:D2033N	D	-	1	0	PI4KA	19392373	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.532000	0.81985	2.601000	0.87937	0.637000	0.83480	GAC		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	100	0	0	0	1	0	4	100				
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Start_Codon_SNP	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:77155051A>G	ENST00000481445.1	+	1	117	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443																																						ENST00000481445.1																			0				endometrium(2)	2						c.(1-3)Atg>Gtg		cytochrome c oxidase subunit VIIb							128.0	90.0	103.0					X																	77155051		2203	4296	6499	SO:0001582	initiator_codon_variant	1349				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chrX:77155051A>G	Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"""Mitochondrial respiratory chain complex / Complex IV"""	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.1A>G	X.37:g.77155051A>G	ENSP00000417656:p.Met1Val					COX7B_ENST00000475465.1_3'UTR	p.M1V	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN			1	117	+			1					B2R4M3|Q6ICR1	Translation_Start_Site	SNP	ENST00000481445.1	37	c.1A>G	CCDS14437.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539645	0.45176	.	.	ENSG00000131174	ENST00000481445	T	0.55234	0.53	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	.	.	.	0.54753	D	0.999981	P	0.47762	0.9	P	0.45794	0.493	T	0.59931	-0.7361	9	0.87932	D	0	-7.7366	11.5645	0.50796	1.0:0.0:0.0:0.0	.	1	P24311	COX7B_HUMAN	V	1	ENSP00000417656:M1V	ENSP00000417656:M1V	M	+	1	0	COX7B	77041707	1.000000	0.71417	0.982000	0.44146	0.214000	0.24535	4.108000	0.57817	2.003000	0.58678	0.486000	0.48141	ATG		0.443	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058970.1	NM_001866	Missense_Mutation	7	81	0	0	0	1	0	7	81				
ABCA13	154664	broad.mit.edu	37	7	48319515	48319515	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:48319515A>G	ENST00000435803.1	+	18	8748	c.8724A>G	c.(8722-8724)caA>caG	p.Q2908Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2908					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						TAACAGATCAAAGGTAATTAA	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.(8722-8724)caA>caG		ATP-binding cassette, sub-family A (ABC1), member 13							30.0	31.0	30.0					7																	48319515		1809	4066	5875	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319515A>G	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.8724A>G	7.37:g.48319515A>G							p.Q2908Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	8748	+			2908					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8724A>G	CCDS47584.1																																																																																				0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	26	0	0	0	1	0	3	26				
ATM	472	broad.mit.edu	37	11	108119696	108119696	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr11:108119696C>G	ENST00000452508.2	+	10	1291	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	ATM_ENST00000278616.4_Missense_Mutation_p.Q368E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	368					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGAGATTTCTCAATCTTACAC	0.328			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1102-1104)Caa>Gaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							71.0	73.0	72.0					11																	108119696		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108119696C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1102C>G	11.37:g.108119696C>G	ENSP00000388058:p.Gln368Glu	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.Q368E	p.Q368E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	9	1487	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	368					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1102C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627518	0.66901	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02085	4.46;4.81;4.81	5.07	5.07	0.68467	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	M	0.62723	1.935	0.43368	D	0.995459	P	0.52170	0.951	P	0.46026	0.501	T	0.16837	-1.0389	10	0.66056	D	0.02	.	17.5885	0.87989	0.0:1.0:0.0:0.0	.	368	Q13315	ATM_HUMAN	E	368	ENSP00000435747:Q368E;ENSP00000278616:Q368E;ENSP00000388058:Q368E	ENSP00000278616:Q368E	Q	+	1	0	ATM	107624906	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.920000	0.70017	2.499000	0.84300	0.563000	0.77884	CAA		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	54	0	0	0	1	0	3	54				
SERPINA5	5104	broad.mit.edu	37	14	95053930	95053930	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:95053930C>T	ENST00000554866.1	+	2	345	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000329597.7_Silent_p.A77A|SERPINA5_ENST00000554276.1_Silent_p.A77A			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	77					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAGCCTGGCCATGCTCTCCC	0.597																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(229-231)gcC>gcT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						29.0	30.0	30.0					14																	95053930		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053930C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.231C>T	14.37:g.95053930C>T						SERPINA5_ENST00000554276.1_Silent_p.A77A|SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000554866.1_Silent_p.A77A	p.A77A	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	441	+			77					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.231C>T	CCDS9928.1																																																																																				0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		3	25	0	0	0	1	0	3	25				
ROBO2	6092	broad.mit.edu	37	3	77542481	77542481	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:77542481C>G	ENST00000461745.1	+	5	1654	c.754C>G	c.(754-756)Cct>Gct	p.P252A	ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A|ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	252	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAAGGAGATCCTCAACCAAC	0.413																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(754-756)Cct>Gct		roundabout, axon guidance receptor, homolog 2 (Drosophila)							123.0	114.0	117.0					3																	77542481		1897	4139	6036	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542481C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.754C>G	3.37:g.77542481C>G	ENSP00000417164:p.Pro252Ala					ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A|ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A	p.P252A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1654	+			252			Ig-like C2-type 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.754C>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902901	0.92035	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.80393	-1.37;-1.37;-1.37	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	U	0.000516	D	0.93138	0.7815	H	0.94847	3.59	0.47374	D	0.999402	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93978	0.7255	9	0.66056	D	0.02	.	20.2267	0.98341	0.0:1.0:0.0:0.0	.	268;252;252	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	A	268;268;268;252;252	ENSP00000417335:P268A;ENSP00000417164:P252A;ENSP00000327536:P252A	ENSP00000327536:P252A	P	+	1	0	ROBO2	77625171	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.762000	0.85270	2.791000	0.96007	0.491000	0.48974	CCT		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		24	52	0	0	0	1	0	24	52				
ASB11	140456	broad.mit.edu	37	X	15306083	15306083	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:15306083C>T	ENST00000480796.1	-	6	817	c.767G>A	c.(766-768)cGt>cAt	p.R256H	ASB11_ENST00000537676.1_Missense_Mutation_p.R235H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H|ASB11_ENST00000380470.3_Missense_Mutation_p.R239H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	256					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGCATTTCTACGCTTCAGGTT	0.572																																						ENST00000537676.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(703-705)cGt>cAt		ankyrin repeat and SOCS box containing 11							135.0	107.0	116.0					X																	15306083		2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chrX:15306083C>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.767G>A	X.37:g.15306083C>T	ENSP00000417914:p.Arg256His					ASB11_ENST00000380470.3_Missense_Mutation_p.R239H|ASB11_ENST00000480796.1_Missense_Mutation_p.R256H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H	p.R235H			Q8WXH4	ASB11_HUMAN			6	776	-	Hepatocellular(33;0.183)		256					E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.704G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015595	0.35511	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.44	1.24	0.21308	Ankyrin repeat-containing domain (4);	0.669242	0.14936	N	0.289808	T	0.36963	0.0986	N	0.12443	0.215	0.09310	N	1	B;B;B	0.33266	0.072;0.404;0.404	B;B;B	0.27715	0.024;0.082;0.082	T	0.19877	-1.0292	10	0.62326	D	0.03	2.1305	6.0747	0.19909	0.2451:0.5922:0.0:0.1627	.	239;256;235	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	H	235;239;235;256	ENSP00000445465:R235H;ENSP00000369837:R239H;ENSP00000343408:R235H;ENSP00000417914:R256H	ENSP00000343408:R235H	R	-	2	0	ASB11	15216004	0.152000	0.22762	0.054000	0.19295	0.903000	0.53119	0.535000	0.23114	0.021000	0.15133	-0.450000	0.05554	CGT		0.572	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			11	62	0	0	0	1	0	11	62				
ZNF470	388566	broad.mit.edu	37	19	57088811	57088811	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:57088811A>C	ENST00000330619.8	+	6	1700	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGGAGAGAAACCCTATGAAT	0.428																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1012-1014)aaA>aaC		zinc finger protein 470							71.0	69.0	70.0					19																	57088811		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088811A>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1014A>C	19.37:g.57088811A>C	ENSP00000333223:p.Lys338Asn					ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N|ZNF470_ENST00000601902.1_Intron	p.K338N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1700	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	338					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1014A>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966148	0.53507	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.26067	1.76;1.76	4.13	1.6	0.23607	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46229	0.1382	M	0.81239	2.535	0.29469	N	0.857217	D	0.69078	0.997	D	0.66497	0.944	T	0.39981	-0.9587	9	0.87932	D	0	.	6.7064	0.23252	0.7344:0.0:0.2656:0.0	.	338	Q6ECI4	ZN470_HUMAN	N	338	ENSP00000375590:K338N;ENSP00000333223:K338N	ENSP00000333223:K338N	K	+	3	2	ZNF470	61780623	0.005000	0.15991	0.999000	0.59377	0.905000	0.53344	-0.040000	0.12104	0.089000	0.17243	-0.385000	0.06624	AAA		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		16	29	0	0	0	1	0	16	29				
DNAJC13	23317	broad.mit.edu	37	3	132166297	132166299	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:132166297_132166299delCTT	ENST00000260818.6	+	4	525_527	c.277_279delCTT	c.(277-279)cttdel	p.L94del	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	94					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGAACAGAACTTCTTACAGAAG	0.32																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(277-279)del		DnaJ (Hsp40) homolog, subfamily C, member 13																																				SO:0001651	inframe_deletion	23317						heat shock protein binding	g.chr3:132166297_132166299delCTT	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.277_279delCTT	3.37:g.132166300_132166302delCTT	ENSP00000260818:p.Leu94del					DNAJC13_ENST00000486798.1_3'UTR	p.L94del	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			4	525_527	+			94					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	In_Frame_Del	DEL	ENST00000260818.6	37	c.277_279delCTT	CCDS33857.1																																																																																				0.320	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		12	35						12	35	---	---	---	---
SCD5	79966	broad.mit.edu	37	4	83601969	83601971	+	In_Frame_Del	DEL	AGA	AGA	-	rs565965510		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr4:83601969_83601971delAGA	ENST00000319540.4	-	3	777_779	c.458_460delTCT	c.(457-462)ttctcc>tcc	p.F153del	SCD5_ENST00000273908.4_In_Frame_Del_p.F153del	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	153					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAATATGGGAGAAGAAGAAGCC	0.552																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(457-462)tcc>t		stearoyl-CoA desaturase 5																																				SO:0001651	inframe_deletion	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83601969_83601971delAGA	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.458_460delTCT	4.37:g.83601975_83601977delAGA	ENSP00000316329:p.Phe153del					SCD5_ENST00000273908.4_In_Frame_Del_p.FS153del	p.FS153del	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			3	777_779	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	153					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	In_Frame_Del	DEL	ENST00000319540.4	37	c.458_460delTCT	CCDS34024.1																																																																																				0.552	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		30	93						30	93	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76707533	76707534	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr5:76707533_76707534delTG	ENST00000264917.5	+	15	1608_1609	c.1563_1564delTG	c.(1561-1566)tatgtgfs	p.V522fs	PDE8B_ENST00000505283.1_De_novo_Start_OutOfFrame|PDE8B_ENST00000333194.4_Frame_Shift_Del_p.V467fs|PDE8B_ENST00000346042.3_Frame_Shift_Del_p.V425fs|PDE8B_ENST00000340978.3_Frame_Shift_Del_p.V475fs|PDE8B_ENST00000342343.4_Frame_Shift_Del_p.V502fs	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	522					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GAAACGAGTATGTGTTTACTAA	0.386																																						ENST00000505283.1																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40								phosphodiesterase 8B																																				SO:0001589	frameshift_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76707533_76707534delTG	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1563_1564delTG	5.37:g.76707535_76707536delTG	ENSP00000264917:p.Val522fs					PDE8B_ENST00000346042.3_Frame_Shift_Del_p.YV424fs|PDE8B_ENST00000333194.4_Frame_Shift_Del_p.YV466fs|PDE8B_ENST00000340978.3_Frame_Shift_Del_p.YV474fs|PDE8B_ENST00000342343.4_Frame_Shift_Del_p.YV501fs|PDE8B_ENST00000264917.5_Frame_Shift_Del_p.YV521fs				O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	0	738_739	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)						Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Translation_Start_Site	DEL	ENST00000264917.5	37		CCDS4037.1																																																																																				0.386	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		21	82						21	82	---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150721483	150721484	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:150721483_150721484insC	ENST00000377974.2	-	1	102_103	c.27_28insG	c.(25-30)gggagafs	p.R10fs	ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.R10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Frame_Shift_Ins_p.R10fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	10					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCTTCTTCTCCCCCCCCAGC	0.644																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(25-30)gggaagfs		autophagy related 9B																																				SO:0001589	frameshift_variant	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150721483_150721484insC	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.28dupG	7.37:g.150721491_150721491dupC	ENSP00000475005:p.Arg10fs					ATG9B_ENST00000377974.2_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000444312.1_5'UTR	p.K10fs	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	102_103	-	all_neural(206;0.219)		10					A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Ins	INS	ENST00000377974.2	37	c.27_28insG																																																																																					0.644	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	6						3	6	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43694049	43694052	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:43694049_43694052delGTAA	ENST00000260383.7	+	15	1988		c.e15+1		TUBGCP4_ENST00000399460.3_Splice_Site|TUBGCP4_ENST00000564079.1_Splice_Site			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTGAAACCTGTAAGTAAGGCTCA	0.422																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.e15+1		tubulin, gamma complex associated protein 4																																				SO:0001630	splice_region_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43694049_43694052delGTAA	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1734+1GTAA>-	15.37:g.43694053_43694056delGTAA						TUBGCP4_ENST00000260383.7_Splice_Site|TUBGCP4_ENST00000399460.3_Splice_Site		NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	15	1971	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)						B3KNK6|Q969X3|Q9NVF0	Splice_Site	DEL	ENST00000260383.7	37																																																																																						0.422	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	Intron	11	47						11	47	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-	rs587778718		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr17:7578275_7578277delGAG	ENST00000269305.4	-	6	761_763	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000420246.2_In_Frame_Del_p.P191del|TP53_ENST00000455263.2_In_Frame_Del_p.P191del	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	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCCAG	0.557		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"""		156	Substitution - Nonsense(95)|Deletion - In frame(23)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Substitution - Missense(6)|Insertion - Frameshift(2)|Complex - frameshift(1)|Substitution - coding silent(1)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(27)|ovary(21)|urinary_tract(15)|lung(13)|upper_aerodigestive_tract(12)|large_intestine(9)|skin(9)|oesophagus(8)|biliary_tract(7)|haematopoietic_and_lymphoid_tissue(6)|kidney(6)|stomach(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)|prostate(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	GRCh37	CD972478	TP53	D		c.(571-576)cag>c	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	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.chr17:7578275_7578277delGAG	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.572_574delCTC	17.37:g.7578278_7578280delGAG	ENSP00000269305:p.Pro191del	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_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del	p.PQ191del	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)	6	704_706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	191		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.572_574delCTC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	33						19	33	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		5	8						5	8	---	---	---	---
RRBP1	6238	broad.mit.edu	37	20	17639269	17639271	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr20:17639269_17639271delCTT	ENST00000377813.1	-	3	2185_2187	c.1882_1884delAAG	c.(1882-1884)aagdel	p.K628del	RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del|RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	628					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGAACCAGACTTCTTCTTGGCA	0.453																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1882-1884)del		ribosome binding protein 1																																				SO:0001651	inframe_deletion	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639269_17639271delCTT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1882_1884delAAG	20.37:g.17639275_17639277delCTT	ENSP00000367044:p.Lys628del					RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del|RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del	p.K628del			Q9P2E9	RRBP1_HUMAN			3	2185_2187	-			628					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	In_Frame_Del	DEL	ENST00000377813.1	37	c.1882_1884delAAG																																																																																					0.453	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		7	121						7	121	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778764	76778767	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:76778764_76778767delTTTC	ENST00000373344.5	-	31	7026_7029	c.6812_6815delGAAA	c.(6811-6816)agaaaafs	p.RK2271fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2271	Interaction with MECP2.		R -> G (in MRXSHF1). {ECO:0000269|PubMed:16222662}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCAAGCTGCTTTTCTTTCTTCTTC	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6811-6816)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778764_76778767delTTTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6812_6815delGAAA	X.37:g.76778768_76778771delTTTC	ENSP00000362441:p.Arg2271fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs	p.RK2271fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7026_7029	-			2271		R -> G (in MRXSHF1).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6812_6815delGAAA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		72	235						72	235	---	---	---	---
