#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
TACC2	10579	broad.mit.edu	37	10	123844789	123844789	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:123844789G>T	ENST00000369005.1	+	4	3114	c.2774G>T	c.(2773-2775)aGt>aTt	p.S925I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000453444.2_Missense_Mutation_p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	925					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTTTGGGAGAGTTCTCTGACA	0.537																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2773-2775)aGt>aTt		transforming, acidic coiled-coil containing protein 2							98.0	98.0	98.0					10																	123844789		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844789G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2774G>T	10.37:g.123844789G>T	ENSP00000358001:p.Ser925Ile					TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I	p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3114	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	925					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2774G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390631	0.42410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.78;3.76;3.76;3.78;3.76	5.48	0.2	0.15181	.	1.247280	0.05903	N	0.630385	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.005	T	0.47289	-0.9129	10	0.72032	D	0.01	3.3515	1.1519	0.01787	0.2631:0.1415:0.4276:0.1677	.	925;925;925	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	925;925;925;925;925;915	ENSP00000358001:S925I;ENSP00000424467:S925I;ENSP00000427618:S925I;ENSP00000334280:S925I;ENSP00000395048:S925I	ENSP00000334280:S925I	S	+	2	0	TACC2	123834779	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.393000	0.07305	-0.009000	0.14296	-0.234000	0.12200	AGT		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	50	1	0	3.28513e-13	1	3.82147e-13	25	50				
METTL14	57721	broad.mit.edu	37	4	119609163	119609163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:119609163G>T	ENST00000388822.5	+	2	319	c.152G>T	c.(151-153)tGc>tTc	p.C51F	METTL14_ENST00000506780.1_Missense_Mutation_p.A13S			Q9HCE5	MET14_HUMAN	methyltransferase like 14	51					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAGAAACTTGCAGGTCAGTC	0.408																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(151-153)tGc>tTc		methyltransferase like 14							75.0	73.0	74.0					4																	119609163		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119609163G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.152G>T	4.37:g.119609163G>T	ENSP00000373474:p.Cys51Phe					METTL14_ENST00000506780.1_Missense_Mutation_p.A13S	p.C51F			Q9HCE5	MTL14_HUMAN			2	319	+			51					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.152G>T	CCDS34053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.59|13.59	2.281422|2.281422	0.40394|0.40394	.|.	.|.	ENSG00000145388|ENSG00000145388	ENST00000506780|ENST00000388822;ENST00000508801	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.089338	.|0.85682	.|N	.|0.000000	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.22421|0.22421	0.69|0.69	0.26312|0.26312	N|N	0.97781|0.97781	B|B	0.23058|0.26258	0.079|0.145	B|B	0.16289|0.25140	0.015|0.058	T|T	0.09378|0.09378	-1.0677|-1.0677	8|9	0.46703|0.10111	T|T	0.11|0.7	-11.3476|-11.3476	16.0714|16.0714	0.80940|0.80940	0.0:0.1339:0.8661:0.0|0.0:0.1339:0.8661:0.0	.|.	13|51	D6RBL4|Q9HCE5	.|MTL14_HUMAN	S|F	13|51;101	.|.	ENSP00000424111:A13S|ENSP00000373474:C51F	A|C	+|+	1|2	0|0	METTL14|METTL14	119828611|119828611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.785000|4.785000	0.62418|0.62418	2.762000|2.762000	0.94881|0.94881	0.643000|0.643000	0.83706|0.83706	GCA|TGC		0.408	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		10	12	1	0	0.000442599	1	0.000458694	10	12				
ARHGAP39	80728	broad.mit.edu	37	8	145773234	145773234	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:145773234G>A	ENST00000276826.5	-	4	1437	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	ARHGAP39_ENST00000377307.2_Silent_p.A412A|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A412A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	412					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGCGGGCCGGCGCGCAGCT	0.711																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1234-1236)gcC>gcT		Rho GTPase activating protein 39																																				SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773234G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1236C>T	8.37:g.145773234G>A						ARHGAP39_ENST00000377307.2_Silent_p.A412A|ARHGAP39_ENST00000540274.1_Silent_p.A412A	p.A412A			Q9C0H5	RHG39_HUMAN			4	1437	-			412					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1236C>T																																																																																					0.711	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			3	9	0	0	0	1	0	3	9				
ZBED1	9189	broad.mit.edu	37	X	2407293	2407293	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chrX:2407293G>A	ENST00000381223.4	-	2	1671	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	ZBED1_ENST00000381222.2_Missense_Mutation_p.R490W|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.R490W|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	490					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCTGCCGCTCGAAGGCG	0.627																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1468-1470)Cgg>Tgg		zinc finger, BED-type containing 1							87.0	93.0	91.0					X																	2407293		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407293G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1468C>T	X.37:g.2407293G>A	ENSP00000370621:p.Arg490Trp					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R490W|ZBED1_ENST00000381218.3_Missense_Mutation_p.R490W	p.R490W	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1671	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	490					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1468C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172406	0.38315	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23348	1.91;1.91;1.91	3.06	-0.273	0.12915	Ribonuclease H-like (1);	0.241577	0.26058	N	0.026588	T	0.42177	0.1191	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.34875	-0.9811	9	0.37606	T	0.19	-36.5724	11.4375	0.50076	0.0:0.0:0.391:0.609	.	490	O96006	ZBED1_HUMAN	W	490	ENSP00000370621:R490W;ENSP00000370620:R490W;ENSP00000370616:R490W	ENSP00000370616:R490W	R	-	1	2	ZBED1	2417293	0.856000	0.29760	0.101000	0.21167	0.711000	0.40976	0.320000	0.19540	-0.747000	0.04759	-0.371000	0.07208	CGG		0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		5	87	0	0	0	1	0	5	87				
SLC4A1AP	22950	broad.mit.edu	37	2	27907927	27907927	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:27907927A>G	ENST00000326019.6	+	10	2181	c.1899A>G	c.(1897-1899)gaA>gaG	p.E633E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	633						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCGTCCAGAACTCCCTCCAA	0.418																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1897-1899)gaA>gaG		solute carrier family 4 (anion exchanger), member 1, adaptor protein							78.0	76.0	77.0					2																	27907927		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27907927A>G		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1899A>G	2.37:g.27907927A>G							p.E633E	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			10	2181	+	Acute lymphoblastic leukemia(172;0.155)		633					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1899A>G	CCDS33166.1																																																																																				0.418	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		4	72	0	0	0	1	0	4	72				
ARHGAP5	394	broad.mit.edu	37	14	32562152	32562152	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:32562152C>A	ENST00000345122.3	+	2	2592	c.2277C>A	c.(2275-2277)caC>caA	p.H759Q	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	759					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTAAACACAATTTGGATG	0.408																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2275-2277)caC>caA		Rho GTPase activating protein 5							111.0	106.0	107.0					14																	32562152		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562152C>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2277C>A	14.37:g.32562152C>A	ENSP00000371897:p.His759Gln					ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000433497.1_Intron	p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2592	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		759					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2277C>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324519	0.10900	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.5	-0.0491	0.13836	.	0.129842	0.64402	N	0.000001	T	0.24353	0.0590	L	0.29908	0.895	0.50632	D	0.999884	B;B	0.21905	0.062;0.037	B;B	0.21917	0.037;0.017	T	0.05305	-1.0893	10	0.22109	T	0.4	.	6.1679	0.20400	0.0:0.4916:0.1186:0.3899	.	759;759	Q13017-2;Q13017	.;RHG05_HUMAN	Q	759	ENSP00000452222:H759Q;ENSP00000441692:H759Q;ENSP00000371897:H759Q;ENSP00000393307:H759Q	ENSP00000371897:H759Q	H	+	3	2	ARHGAP5	31631903	0.993000	0.37304	0.994000	0.49952	0.992000	0.81027	0.381000	0.20619	-0.233000	0.09797	-0.143000	0.13931	CAC		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		19	77	1	0	2.4624e-09	1	2.80713e-09	19	77				
DIRC2	84925	broad.mit.edu	37	3	122545904	122545904	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545904T>C	ENST00000261038.5	+	3	1093	c.695T>C	c.(694-696)tTa>tCa	p.L232S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	232					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAGGCTGTGTTATATGCAGGT	0.383																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(694-696)tTa>tCa		disrupted in renal carcinoma 2							97.0	89.0	92.0					3																	122545904		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545904T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.695T>C	3.37:g.122545904T>C	ENSP00000261038:p.Leu232Ser						p.L232S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1093	+			232					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.695T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627935	0.87560	.	.	ENSG00000138463	ENST00000261038	T	0.60920	0.15	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.255560	0.37906	N	0.001898	T	0.67822	0.2934	L	0.54323	1.7	0.44345	D	0.997239	D	0.60160	0.987	P	0.56916	0.809	T	0.70761	-0.4784	10	0.72032	D	0.01	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	232	Q96SL1	DIRC2_HUMAN	S	232	ENSP00000261038:L232S	ENSP00000261038:L232S	L	+	2	0	DIRC2	124028594	0.940000	0.31905	0.982000	0.44146	0.995000	0.86356	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	TTA		0.383	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		27	79	0	0	0	1	0	27	79				
DOPEY1	23033	broad.mit.edu	37	6	83850061	83850061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr6:83850061C>A	ENST00000349129.2	+	23	5614	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1785					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTGATTCTTCAGAAAAGATG	0.408																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5353-5355)tCa>tAa		dopey family member 1							166.0	154.0	158.0					6																	83850061		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83850061C>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5354C>A	6.37:g.83850061C>A	ENSP00000195654:p.Ser1785*					DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	p.S1785*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	23	5614	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1785					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5354C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	46	12.215140	0.99647	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.47	5.47	0.80525	.	0.065243	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6797	0.95957	0.0:1.0:0.0:0.0	.	.	.	.	X	1785;1766;1766	.	ENSP00000237163:S1766X	S	+	2	0	DOPEY1	83906780	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	7.445000	0.80570	2.727000	0.93392	0.585000	0.79938	TCA		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	84	1	0	0.27861	1	0.283586	7	84				
GPR37	2861	broad.mit.edu	37	7	124387012	124387012	+	Missense_Mutation	SNP	C	C	T	rs375795394		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:124387012C>T	ENST00000303921.2	-	2	2059	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	470					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.R470H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGCTTTGCGGATTTTCCT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20283	0.0		0.0	False		,,,				2504	0.0					ENST00000303921.2																			1	Substitution - Missense(1)	p.R470H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1408-1410)cGc>cAc		G protein-coupled receptor 37 (endothelin receptor type B-like)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	108.0	110.0		1409	5.7	1.0	7		110	0,8600		0,0,4300	no	missense	GPR37	NM_005302.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	470/614	124387012	1,13005	2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387012C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1409G>A	7.37:g.124387012C>T	ENSP00000306449:p.Arg470His						p.R470H	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2059	-			470					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1409G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084827	0.55861	2.27E-4	0.0	ENSG00000170775	ENST00000303921	T	0.42513	0.97	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.106913	0.40144	N	0.001180	T	0.39009	0.1062	M	0.62723	1.935	0.43110	D	0.99481	P	0.47350	0.894	B	0.37780	0.258	T	0.40831	-0.9542	10	0.51188	T	0.08	-25.7451	12.2386	0.54530	0.0:0.9229:0.0:0.0771	.	470	O15354	GPR37_HUMAN	H	470	ENSP00000306449:R470H	ENSP00000306449:R470H	R	-	2	0	GPR37	124174248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.031000	0.57267	2.698000	0.92095	0.655000	0.94253	CGC		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		4	127	0	0	0	1	0	4	127				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	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_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			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_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	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	33	0	0	0	1	0	3	33				
PTRHD1	391356	broad.mit.edu	37	2	25013322	25013322	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:25013322T>G	ENST00000328379.5	-	2	385	c.381A>C	c.(379-381)gaA>gaC	p.E127D	CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000473706.1_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	127						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GGCCCACTTCTTCCTTGGGGT	0.493																																						ENST00000328379.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(379-381)gaA>gaC		peptidyl-tRNA hydrolase domain containing 1							134.0	121.0	126.0					2																	25013322		2203	4300	6503	SO:0001583	missense	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25013322T>G		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.381A>C	2.37:g.25013322T>G	ENSP00000330389:p.Glu127Asp					PTRHD1_ENST00000487316.1_5'UTR	p.E127D	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN			2	385	-			127						Missense_Mutation	SNP	ENST00000328379.5	37	c.381A>C	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881131	0.33255	.	.	ENSG00000184924	ENST00000328379	T	0.11169	2.8	5.08	-1.0	0.10196	Peptidyl-tRNA hydrolase II domain (2);	0.166428	0.52532	D	0.000079	T	0.10766	0.0263	L	0.27053	0.805	0.43246	D	0.995165	D	0.55385	0.971	P	0.54401	0.751	T	0.15925	-1.0420	10	0.15499	T	0.54	-13.2794	10.7946	0.46453	0.0:0.6527:0.0:0.3473	.	127	Q6GMV3	PTRD1_HUMAN	D	127	ENSP00000330389:E127D	ENSP00000330389:E127D	E	-	3	2	PTRHD1	24866826	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.682000	0.25335	-0.052000	0.13311	0.533000	0.62120	GAA		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		23	43	0	0	0	1	0	23	43				
EPHB2	2048	broad.mit.edu	37	1	23219448	23219448	+	Silent	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:23219448C>T	ENST00000400191.3	+	7	1518	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	EPHB2_ENST00000374630.3_Silent_p.A500A|EPHB2_ENST00000374632.3_Silent_p.A500A|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.A495A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	500	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCTCAAAGCCGGCGCCATCT	0.572																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1498-1500)gcC>gcT		EPH receptor B2							66.0	68.0	68.0					1																	23219448		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219448C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1500C>T	1.37:g.23219448C>T						EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.A500A|EPHB2_ENST00000374627.1_Silent_p.A495A|EPHB2_ENST00000374632.3_Silent_p.A500A	p.A500A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1518	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	500			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1500C>T																																																																																					0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		12	23	0	0	0	1	0	12	23				
ASPG	374569	broad.mit.edu	37	14	104573550	104573550	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:104573550G>A	ENST00000551177.1	+	12	1393	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	ASPG_ENST00000546892.2_Missense_Mutation_p.G434D|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.G434D	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	434					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GACTTTAACGGCCAAACCCCA	0.667																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1300-1302)gGc>gAc		asparaginase homolog (S. cerevisiae)							35.0	45.0	42.0					14																	104573550		2041	4186	6227	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104573550G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1301G>A	14.37:g.104573550G>A	ENSP00000450040:p.Gly434Asp					ASPG_ENST00000546892.2_Missense_Mutation_p.G434D|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.G434D	p.G434D	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			12	1393	+			434					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.1301G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484965	0.63962	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.62788	0.0;0.78;0.0	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.76170	2.325	0.38187	D	0.939808	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.997	T	0.82226	-0.0562	10	0.72032	D	0.01	-22.5434	12.9635	0.58472	0.0:0.0:1.0:0.0	.	434;434;434;462	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	D	434;462;434;434	ENSP00000450040:G434D;ENSP00000448911:G434D;ENSP00000389003:G434D	ENSP00000299234:G462D	G	+	2	0	ASPG	103643303	0.999000	0.42202	0.040000	0.18447	0.022000	0.10575	3.705000	0.54823	2.108000	0.64289	0.462000	0.41574	GGC		0.667	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		3	45	0	0	0	1	0	3	45				
LRRC66	339977	broad.mit.edu	37	4	52860765	52860765	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:52860765G>C	ENST00000343457.3	-	4	2429	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	808						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATTCCCTGGTGACCTGGGCCA	0.493																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2422-2424)tCa>tGa		leucine rich repeat containing 66							53.0	55.0	54.0					4																	52860765		1883	4108	5991	SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52860765G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2423C>G	4.37:g.52860765G>C	ENSP00000341944:p.Ser808*						p.S808*	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2429	-			808						Nonsense_Mutation	SNP	ENST00000343457.3	37	c.2423C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868551	0.72065	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.67	2.87	0.33458	.	0.367288	0.20166	N	0.097849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5128	6.1752	0.20439	0.0968:0.0:0.7206:0.1826	.	.	.	.	X	808	.	ENSP00000341944:S808X	S	-	2	0	LRRC66	52555522	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.581000	0.23819	0.635000	0.30488	0.655000	0.94253	TCA		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		3	23	0	0	0	1	0	3	23				
LAD1	3898	broad.mit.edu	37	1	201356120	201356120	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:201356120G>A	ENST00000391967.2	-	3	670	c.369C>T	c.(367-369)agC>agT	p.S123S	LAD1_ENST00000367313.3_Silent_p.S137S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	123						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTGCACAGGGCTCAAGCTGT	0.662																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(367-369)agC>agT		ladinin 1							36.0	39.0	38.0					1																	201356120		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201356120G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.369C>T	1.37:g.201356120G>A						LAD1_ENST00000367313.3_Silent_p.S137S	p.S123S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	670	-			123					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.369C>T	CCDS1410.1																																																																																				0.662	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		3	45	0	0	0	1	0	3	45				
WDR73	84942	broad.mit.edu	37	15	85189499	85189499	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:85189499A>G	ENST00000434634.2	-	6	493	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	145										cervix(1)|large_intestine(1)|lung(1)	3						CCGGGTGCCAATGTGGAGAAG	0.562																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(433-435)Ttg>Ctg		WD repeat domain 73							58.0	62.0	61.0					15																	85189499		1977	4160	6137	SO:0001819	synonymous_variant	84942							g.chr15:85189499A>G	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.433T>C	15.37:g.85189499A>G						WDR73_ENST00000398528.3_5'UTR	p.L145L	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			6	493	-			145					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.433T>C	CCDS45339.1																																																																																				0.562	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	32	0	0	0	1	0	6	32				
OR4N2	390429	broad.mit.edu	37	14	20296284	20296284	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:20296284G>T	ENST00000315947.1	+	1	677	c.677G>T	c.(676-678)cGa>cTa	p.R226L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCGCATACGAGGGTCTTCT	0.478																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(676-678)cGa>cTa		olfactory receptor, family 4, subfamily N, member 2							108.0	109.0	109.0					14																	20296284		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296284G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.677G>T	14.37:g.20296284G>T	ENSP00000319601:p.Arg226Leu					OR4N2_ENST00000568211.1_3'UTR	p.R226L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	677	+	all_cancers(95;0.00108)		226					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.677G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404063	0.25291	.	.	ENSG00000176294	ENST00000315947	T	0.00011	9.36	4.52	-6.44	0.01920	GPCR, rhodopsin-like superfamily (1);	1.335570	0.05242	N	0.512395	T	0.00356	0.0011	M	0.90977	3.165	0.09310	N	1	P	0.35272	0.493	P	0.49922	0.626	T	0.07927	-1.0747	10	0.72032	D	0.01	0.0781	14.5248	0.67881	0.7979:0.0:0.2021:0.0	.	226	Q8NGD1	OR4N2_HUMAN	L	226	ENSP00000319601:R226L	ENSP00000319601:R226L	R	+	2	0	OR4N2	19366124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-1.406000	0.02045	-0.225000	0.12378	CGA		0.478	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			8	135	1	0	0.000442599	1	0.000458694	8	135				
TOP1	7150	broad.mit.edu	37	20	39725936	39725936	+	Silent	SNP	T	T	C	rs374999084		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr20:39725936T>C	ENST00000361337.2	+	10	1057	c.807T>C	c.(805-807)acT>acC	p.T269T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	269					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATGAATATACTACCAAGGAAA	0.368			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(805-807)acT>acC		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						75.0	80.0	78.0					20																	39725936		2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39725936T>C		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.807T>C	20.37:g.39725936T>C							p.T269T	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			10	1057	+		Myeloproliferative disorder(115;0.00878)	269					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.807T>C	CCDS13312.1																																																																																				0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			28	62	0	0	0	1	0	28	62				
KBTBD2	25948	broad.mit.edu	37	7	32909378	32909378	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:32909378C>T	ENST00000304056.4	-	4	2150	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	484										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GAGTCTTATGCCGGAATTGGT	0.428																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1450-1452)gGc>gAc		kelch repeat and BTB (POZ) domain containing 2							94.0	95.0	95.0					7																	32909378		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909378C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1451G>A	7.37:g.32909378C>T	ENSP00000302586:p.Gly484Asp					AVL9_ENST00000404479.1_Intron	p.G484D	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2150	-			484					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1451G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742814	0.49151	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.68624	-0.34	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.045370	0.85682	N	0.000000	T	0.73171	0.3553	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71441	-0.4592	10	0.34782	T	0.22	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	484	Q8IY47	KBTB2_HUMAN	D	484;286	ENSP00000302586:G484D	ENSP00000302586:G484D	G	-	2	0	KBTBD2	32875903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.709000	0.92574	0.491000	0.48974	GGC		0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		4	92	0	0	0	1	0	4	92				
TMEM248	55069	broad.mit.edu	37	7	66413640	66413640	+	Silent	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:66413640C>T	ENST00000341567.4	+	4	810	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	185						integral component of membrane (GO:0016021)											TCACAGCCTGCATGACCCTCA	0.592																																						ENST00000341567.4																			0											c.(553-555)tgC>tgT		transmembrane protein 248							84.0	57.0	66.0					7																	66413640		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66413640C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.555C>T	7.37:g.66413640C>T							p.C185C	NM_017994.4	NP_060464.1					4	810	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.555C>T	CCDS5536.1																																																																																				0.592	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	36	0	0	0	1	0	3	36				
DIRC2	84925	broad.mit.edu	37	3	122545901	122545901	+	Missense_Mutation	SNP	T	T	C	rs192045321		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545901T>C	ENST00000261038.5	+	3	1090	c.692T>C	c.(691-693)gTg>gCg	p.V231A		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	231					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATAGAGGCTGTGTTATATGCA	0.378																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(691-693)gTg>gCg		disrupted in renal carcinoma 2							101.0	92.0	95.0					3																	122545901		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545901T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.692T>C	3.37:g.122545901T>C	ENSP00000261038:p.Val231Ala						p.V231A	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1090	+			231					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.692T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438901	0.83885	.	.	ENSG00000138463	ENST00000261038	T	0.58358	0.34	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.050797	0.85682	D	0.000000	T	0.59865	0.2225	L	0.57536	1.79	0.80722	D	1	P	0.52170	0.951	P	0.50109	0.631	T	0.62201	-0.6904	10	0.52906	T	0.07	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	231	Q96SL1	DIRC2_HUMAN	A	231	ENSP00000261038:V231A	ENSP00000261038:V231A	V	+	2	0	DIRC2	124028591	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	GTG		0.378	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		28	82	0	0	0	1	0	28	82				
MUC16	94025	broad.mit.edu	37	19	9089955	9089955	+	Silent	SNP	G	G	A	rs200371754		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:9089955G>A	ENST00000397910.4	-	1	2063	c.1860C>T	c.(1858-1860)agC>agT	p.S620S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	620	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGCCCTGGCTTCCCCTGG	0.572																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1858-1860)agC>agT		mucin 16, cell surface associated							85.0	89.0	88.0					19																	9089955		2195	4292	6487	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089955G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1860C>T	19.37:g.9089955G>A							p.S620S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2063	-			620			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1860C>T	CCDS54212.1																																																																																				0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	48	0	0	0	1	0	4	48				
OFCC1	266553	broad.mit.edu	37	6	9908826	9908826	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr6:9908826C>T	ENST00000316020.6	-	5	471	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TAATTTCTGCCGTATTCATTT	0.408																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(472-474)Ggc>Agc		orofacial cleft 1 candidate 1							150.0	134.0	140.0					6																	9908826		2203	4300	6503	SO:0001583	missense	266553							g.chr6:9908826C>T	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.472G>A	6.37:g.9908826C>T	ENSP00000325053:p.Gly158Ser					OFCC1_ENST00000472329.1_5'UTR	p.G158S							5	471	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	ENST00000316020.6	37	c.472G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.540|2.540	-0.306535|-0.306535	0.05458|0.05458	.|.	.|.	ENSG00000181355|ENSG00000181355	ENST00000460363;ENST00000316020;ENST00000491508|ENST00000492169	T;T|.	0.27256|.	1.69;1.68|.	5.79|5.79	0.812|0.812	0.18744|0.18744	.|.	0.609098|.	0.18461|.	N|.	0.140524|.	T|T	0.16385|0.16385	0.0394|0.0394	.|.	.|.	.|.	0.22017|0.22017	N|N	0.999411|0.999411	B;B;B;B;B|.	0.19073|.	0.033;0.018;0.018;0.033;0.01|.	B;B;B;B;B|.	0.08055|.	0.003;0.003;0.003;0.003;0.003|.	T|T	0.27536|0.27536	-1.0071|-1.0071	8|4	.|.	.|.	.|.	-0.9505|-0.9505	8.9312|8.9312	0.35672|0.35672	0.0:0.2311:0.0:0.7689|0.0:0.2311:0.0:0.7689	.|.	94;158;90;90;90|.	B7ZLI9;Q8IZS5-2;E9PHR2;Q8IZS5;Q8IZS5-3|.	.;.;.;OFCC1_HUMAN;.|.	S|Q	90;158;158|72	ENSP00000325053:G158S;ENSP00000418251:G158S|.	.|.	G|R	-|-	1|2	0|0	OFCC1|OFCC1	10016812|10016812	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	0.680000|0.680000	0.25306|0.25306	-0.075000|-0.075000	0.12798|0.12798	-0.793000|-0.793000	0.03317|0.03317	GGC|CGG		0.408	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		4	76	0	0	0	1	0	4	76				
ACAN	176	broad.mit.edu	37	15	89392695	89392695	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:89392695G>C	ENST00000561243.1	+	9	1759	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q			P16112	PGCA_HUMAN	aggrecan	587	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACACGCCTTGAGCAGTTCAC	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1759-1761)Gag>Cag		aggrecan							18.0	20.0	19.0					15																	89392695		2079	4192	6271	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392695G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1759G>C	15.37:g.89392695G>C	ENSP00000453342:p.Glu587Gln					ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q	p.E587Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2133	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		587					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1759G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469481	0.63625	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08546	3.08;3.08	5.11	4.13	0.48395	.	0.000000	0.32952	N	0.005455	T	0.07773	0.0195	N	0.21545	0.675	0.40273	D	0.978317	P;P;B	0.43788	0.817;0.817;0.268	B;B;B	0.41988	0.372;0.372;0.275	T	0.28138	-1.0053	10	0.51188	T	0.08	-19.218	14.4669	0.67490	0.0:0.1476:0.8524:0.0	.	587;587;587	E7ENV9;E7EX88;Q6PID9	.;.;.	Q	587	ENSP00000387356:E587Q;ENSP00000341615:E587Q	ENSP00000268134:E587Q	E	+	1	0	ACAN	87193699	1.000000	0.71417	0.923000	0.36655	0.844000	0.47949	7.539000	0.82063	2.532000	0.85374	0.655000	0.94253	GAG		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	12	0	0	0	1	0	4	12				
AP4B1	10717	broad.mit.edu	37	1	114438385	114438385	+	Missense_Mutation	SNP	C	C	T	rs190617142		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:114438385C>T	ENST00000369569.1	-	9	2066	c.1786G>A	c.(1786-1788)Gca>Aca	p.A596T	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.A428T|AP4B1_ENST00000256658.4_Missense_Mutation_p.A596T|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	596					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTGATGCGGCAAAGGAT	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20263	0.0		0.0	False		,,,				2504	0.0					ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1786-1788)Gca>Aca		adaptor-related protein complex 4, beta 1 subunit							76.0	78.0	78.0					1																	114438385		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438385C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1786G>A	1.37:g.114438385C>T	ENSP00000358582:p.Ala596Thr					AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.A428T|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.A596T	p.A596T	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	2066	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	596					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1786G>A	CCDS865.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.010	-1.795212	0.00617	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63255	-0.03;-0.03;-0.03	5.65	-7.71	0.01254	.	1.474120	0.03317	N	0.191317	T	0.08846	0.0219	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.05971	-1.0853	10	0.09338	T	0.73	.	1.2579	0.01995	0.1884:0.3176:0.1923:0.3018	.	596;428;596	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	T	428;596;596	ENSP00000358580:A428T;ENSP00000358582:A596T;ENSP00000256658:A596T	ENSP00000256658:A596T	A	-	1	0	AP4B1	114239908	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.476000	0.06591	-0.704000	0.05042	-0.471000	0.05019	GCA		0.438	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		3	53	0	0	0	1	0	3	53				
PCDH18	54510	broad.mit.edu	37	4	138452054	138452054	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:138452054A>C	ENST00000344876.4	-	1	1575	c.1189T>G	c.(1189-1191)Tgt>Ggt	p.C397G	PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAAGCTTACAAACTATTTCT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1189-1191)Tgt>Ggt		protocadherin 18							93.0	99.0	97.0					4																	138452054		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452054A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1189T>G	4.37:g.138452054A>C	ENSP00000355082:p.Cys397Gly					PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G	p.C397G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1575	-	all_hematologic(180;0.24)		397			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1189T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110773	0.56398	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50813	0.73;0.73;0.73	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000236	T	0.75796	0.3898	H	0.95079	3.62	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.987	D;P;P	0.66497	0.944;0.908;0.859	T	0.82870	-0.0243	10	0.87932	D	0	.	12.4227	0.55529	0.8601:0.1398:0.0:0.0	.	177;397;397	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	G	397;397;177	ENSP00000355082:C397G;ENSP00000390688:C397G;ENSP00000425903:C177G	ENSP00000355082:C397G	C	-	1	0	PCDH18	138671504	1.000000	0.71417	0.956000	0.39512	0.998000	0.95712	7.263000	0.78421	2.313000	0.78055	0.455000	0.32223	TGT		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		3	70	0	0	0	1	0	3	70				
NCCRP1	342897	broad.mit.edu	37	19	39691043	39691043	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:39691043G>A	ENST00000339852.4	+	5	628	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGCTGCTGGCGGCCGACCGCC	0.672																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(604-606)gcG>gcA		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							66.0	76.0	73.0					19																	39691043		2203	4300	6503	SO:0001819	synonymous_variant	342897				protein catabolic process			g.chr19:39691043G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.606G>A	19.37:g.39691043G>A							p.A202A	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	628	+			202			FBA.		Q6NVV5	Silent	SNP	ENST00000339852.4	37	c.606G>A	CCDS12529.1																																																																																				0.672	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		10	136	0	0	0	1	0	10	136				
SLC25A38	54977	broad.mit.edu	37	3	39436020	39436020	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:39436020C>T	ENST00000273158.4	+	6	1122	c.745C>T	c.(745-747)Cca>Tca	p.P249S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTTTATCCACTGAAGTT	0.378																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(745-747)Cca>Tca		solute carrier family 25, member 38							112.0	110.0	110.0					3																	39436020		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39436020C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.745C>T	3.37:g.39436020C>T	ENSP00000273158:p.Pro249Ser						p.P249S	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1122	+			249						Missense_Mutation	SNP	ENST00000273158.4	37	c.745C>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604415	0.46423	.	.	ENSG00000144659	ENST00000273158	T	0.78246	-1.16	5.62	3.71	0.42584	Mitochondrial carrier domain (2);	0.284601	0.37809	N	0.001933	T	0.69006	0.3063	L	0.38175	1.15	0.47737	D	0.999505	B	0.18863	0.031	B	0.27715	0.082	T	0.64076	-0.6492	10	0.30854	T	0.27	-8.4359	12.5029	0.55966	0.3007:0.6993:0.0:0.0	.	249	Q96DW6	S2538_HUMAN	S	249	ENSP00000273158:P249S	ENSP00000273158:P249S	P	+	1	0	SLC25A38	39411024	0.000000	0.05858	0.132000	0.22025	0.847000	0.48162	0.143000	0.16115	1.340000	0.45581	0.655000	0.94253	CCA		0.378	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		38	79	0	0	0	1	0	38	79				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	16	0	0	0	1	0	8	16				
OTOP2	92736	broad.mit.edu	37	17	72926516	72926516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:72926516G>A	ENST00000580223.1	+	5	816	c.786G>A	c.(784-786)tgG>tgA	p.W262*	OTOP2_ENST00000331427.4_Nonsense_Mutation_p.W262*			Q7RTS6	OTOP2_HUMAN	otopetrin 2	262						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTCATGTGGAAGAATGTGG	0.577																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(784-786)tgG>tgA		otopetrin 2							194.0	176.0	182.0					17																	72926516		2203	4300	6503	SO:0001587	stop_gained	92736					integral to membrane		g.chr17:72926516G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.786G>A	17.37:g.72926516G>A	ENSP00000463837:p.Trp262*					OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262*	p.W262*	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	878	+	all_lung(278;0.172)|Lung NSC(278;0.207)		262						Nonsense_Mutation	SNP	ENST00000580223.1	37	c.786G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474545	0.96291	.	.	ENSG00000183034	ENST00000331427	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3825	19.0323	0.92961	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000332528:W262X	W	+	3	0	OTOP2	70438111	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.869000	0.99810	2.499000	0.84300	0.558000	0.71614	TGG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		121	123	0	0	0	1	0	121	123				
CD180	4064	broad.mit.edu	37	5	66479763	66479763	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr5:66479763A>G	ENST00000256447.4	-	3	1065	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	303					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGTCAGATCCAATTCTTGGAG	0.453																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(907-909)tTg>tCg		CD180 molecule							109.0	105.0	106.0					5																	66479763		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479763A>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.908T>C	5.37:g.66479763A>G	ENSP00000256447:p.Leu303Ser						p.L303S	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1065	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	303					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.908T>C	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260066	0.59321	.	.	ENSG00000134061	ENST00000256447	D	0.93076	-3.16	5.22	5.22	0.72569	.	0.000000	0.53938	D	0.000057	D	0.96833	0.8966	M	0.84511	2.7	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.97533	1.0081	10	0.87932	D	0	.	15.2692	0.73686	1.0:0.0:0.0:0.0	.	303	Q99467	CD180_HUMAN	S	303	ENSP00000256447:L303S	ENSP00000256447:L303S	L	-	2	0	CD180	66515519	1.000000	0.71417	0.933000	0.37362	0.618000	0.37518	6.282000	0.72639	2.197000	0.70478	0.528000	0.53228	TTG		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	55	0	0	0	1	0	25	55				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		3	24	0	0	0	1	0	3	24				
THY1	7070	broad.mit.edu	37	11	119291595	119291595	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:119291595G>A	ENST00000284240.5	-	2	1060	c.21C>T	c.(19-21)atC>atT	p.I7I	RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Silent_p.I7I	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	7					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GCAGGAGAGCGATGCTGATGG	0.607																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(19-21)atC>atT		Thy-1 cell surface antigen							201.0	176.0	184.0					11																	119291595		2199	4295	6494	SO:0001819	synonymous_variant	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119291595G>A	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.21C>T	11.37:g.119291595G>A						USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000498979.2_RNA	p.I7I	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	1060	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	7					Q16008|Q9NSP1	Silent	SNP	ENST00000284240.5	37	c.21C>T	CCDS8424.1																																																																																				0.607	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		17	143	0	0	0	1	0	17	143				
ALX1	8092	broad.mit.edu	37	12	85677394	85677394	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr12:85677394G>A	ENST00000316824.3	+	2	426	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	91					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTTCACACCGAACTGAATAG	0.453																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(271-273)Gaa>Aaa		ALX homeobox 1							103.0	96.0	98.0					12																	85677394		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677394G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.271G>A	12.37:g.85677394G>A	ENSP00000315417:p.Glu91Lys						p.E91K	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	426	+			91					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.271G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814603	0.50527	.	.	ENSG00000180318	ENST00000316824	D	0.91945	-2.94	5.62	5.62	0.85841	.	0.053669	0.85682	D	0.000000	D	0.83124	0.5186	N	0.19112	0.55	0.58432	D	0.99999	P	0.46912	0.886	B	0.26969	0.075	T	0.83316	-0.0020	10	0.25106	T	0.35	.	20.0205	0.97499	0.0:0.0:1.0:0.0	.	91	Q15699	ALX1_HUMAN	K	91	ENSP00000315417:E91K	ENSP00000315417:E91K	E	+	1	0	ALX1	84201525	1.000000	0.71417	0.959000	0.39883	0.637000	0.38172	5.656000	0.67988	2.801000	0.96364	0.650000	0.86243	GAA		0.453	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		19	26	0	0	0	1	0	19	26				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	26	0	0	0	1	0	19	26				
ARHGAP32	9743	broad.mit.edu	37	11	128993409	128993409	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:128993409C>T	ENST00000310343.9	-	4	333	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAGTGACCTTTAGTGAAG	0.338																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(334-336)Ggt>Agt		Rho GTPase activating protein 32							96.0	85.0	89.0					11																	128993409		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128993409C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.334G>A	11.37:g.128993409C>T	ENSP00000310561:p.Gly112Ser					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	p.G112S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			4	333	-			112					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.334G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408908	0.83340	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.76968	-1.06;-1.06;-1.06	5.55	5.55	0.83447	.	.	.	.	.	D	0.82825	0.5121	L	0.33245	0.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.958;0.984	T	0.83015	-0.0170	9	0.48119	T	0.1	.	18.0611	0.89378	0.0:1.0:0.0:0.0	.	46;112	Q86T64;A7KAX9	.;RHG32_HUMAN	S	112;38;46;86	ENSP00000310561:G112S;ENSP00000432468:G38S;ENSP00000432303:G86S	ENSP00000310561:G112S	G	-	1	0	ARHGAP32	128498619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.770000	0.74990	2.597000	0.87782	0.655000	0.94253	GGT		0.338	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		7	15	0	0	0	1	0	7	15				
LINC00969	440993	broad.mit.edu	37	3	195391031	195391031	+	lincRNA	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:195391031C>T	ENST00000445430.1	+	0	557									long intergenic non-protein coding RNA 969																		GCGGACACAGCCTCAAGTTTG	0.488																																						ENST00000445430.1																			0																																																			0							g.chr3:195391031C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195391031C>T														0	557	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.488	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	105	0	0	0	1	0	7	105				
AP3B2	8120	broad.mit.edu	37	15	83350314	83350314	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:83350314G>T	ENST00000261722.3	-	5	586	c.379C>A	c.(379-381)Cgt>Agt	p.R127S	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R95S|AP3B2_ENST00000535359.1_Missense_Mutation_p.R127S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACTGGCACGAATCAGCTGG	0.572																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(379-381)Cgt>Agt		adaptor-related protein complex 3, beta 2 subunit							86.0	88.0	87.0					15																	83350314		2098	4222	6320	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83350314G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.379C>A	15.37:g.83350314G>T	ENSP00000261722:p.Arg127Ser					AP3B2_ENST00000535348.1_Missense_Mutation_p.R95S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R127S	p.R127S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	586	-			127					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.379C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492504	0.84962	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.81824	-0.0755	10	0.87932	D	0	-16.5501	18.6878	0.91571	0.0:0.0:1.0:0.0	.	95;127;127	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	S	127;95;127;83	ENSP00000261722:R127S;ENSP00000438721:R95S;ENSP00000440984:R127S;ENSP00000441961:R83S	ENSP00000261722:R127S	R	-	1	0	AP3B2	81147368	1.000000	0.71417	0.821000	0.32701	0.992000	0.81027	6.172000	0.71932	2.642000	0.89623	0.563000	0.77884	CGT		0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			9	34	1	0	2.17888e-05	1	2.38838e-05	9	34				
JADE1	79960	broad.mit.edu	37	4	129782991	129782991	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:129782991A>T	ENST00000226319.6	+	9	1394	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTCACATAGGAAACCCGA	0.557																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1114-1116)Agg>Tgg									105.0	119.0	114.0					4																	129782991		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129782991A>T																												ENST00000226319.6:c.1114A>T	4.37:g.129782991A>T	ENSP00000226319:p.Arg372Trp					PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W	p.R372W	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1394	+			372						Missense_Mutation	SNP	ENST00000226319.6	37	c.1114A>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	8.087	0.773597	0.16051	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.47869	0.99;0.83;0.99;0.99;0.83	5.01	-7.41	0.01392	.	0.366656	0.28803	N	0.014097	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.21360	0.034;0.001;0.012	T	0.18429	-1.0337	9	.	.	.	.	7.5221	0.27635	0.2861:0.5507:0.0616:0.1016	.	360;372;372	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	W	372;372;360;372;372;372	ENSP00000226319:R372W;ENSP00000423737:R372W;ENSP00000388015:R360W;ENSP00000425730:R372W;ENSP00000404211:R372W	.	R	+	1	2	PHF17	130002441	0.219000	0.23619	0.000000	0.03702	0.128000	0.20619	0.715000	0.25822	-1.480000	0.01865	-1.410000	0.01125	AGG		0.557	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	135	0	0	0	1	0	8	135				
EFCAB12	90288	broad.mit.edu	37	3	129120474	129120474	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:129120474C>T	ENST00000505956.1	-	9	1843	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	EFCAB12_ENST00000326085.3_Missense_Mutation_p.A561T|RPL32P3_ENST00000514355.1_RNA	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	561							calcium ion binding (GO:0005509)										TCATAATGGGCGTGGGTCATG	0.602																																						ENST00000505956.1																			0											c.(1681-1683)Gcc>Acc		EF-hand calcium binding domain 12							112.0	107.0	108.0					3																	129120474		2036	4185	6221	SO:0001583	missense	90288							g.chr3:129120474C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1681G>A	3.37:g.129120474C>T	ENSP00000420854:p.Ala561Thr					EFCAB12_ENST00000326085.3_Missense_Mutation_p.A561T	p.A561T	NM_207307.1	NP_997190.1					9	1843	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.1681G>A	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200198	0.79015	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.17691	2.26;2.26	5.7	5.7	0.88788	.	0.691053	0.12601	N	0.454692	T	0.30448	0.0765	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.59825	0.864	T	0.16394	-1.0404	10	0.66056	D	0.02	-18.1222	16.7639	0.85519	0.0:1.0:0.0:0.0	.	561	Q6NXP0	CC025_HUMAN	T	561	ENSP00000420854:A561T;ENSP00000324241:A561T	ENSP00000324241:A561T	A	-	1	0	C3orf25	130603164	0.022000	0.18835	0.006000	0.13384	0.029000	0.11900	3.038000	0.49783	2.688000	0.91661	0.655000	0.94253	GCC		0.602	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		3	3	0	0	0	1	0	3	3				
SSTR1	6751	broad.mit.edu	37	14	38679570	38679570	+	Missense_Mutation	SNP	C	C	T	rs199603499		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38679570C>T	ENST00000267377.2	+	3	1593	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	326					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CTATGGCTTTCTCTCAGACAA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19948	0.0		0.0	False		,,,				2504	0.0					ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(976-978)Ctc>Ttc		somatostatin receptor 1	Octreotide(DB00104)						143.0	135.0	138.0					14																	38679570		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679570C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.976C>T	14.37:g.38679570C>T	ENSP00000267377:p.Leu326Phe						p.L326F	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1593	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		326						Missense_Mutation	SNP	ENST00000267377.2	37	c.976C>T	CCDS9666.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.24	2.775169	0.49786	.	.	ENSG00000139874	ENST00000267377	T	0.38077	1.16	4.82	4.82	0.62117	.	0.000000	0.52532	D	0.000076	T	0.37705	0.1013	L	0.42245	1.32	0.54753	D	0.999984	B	0.33528	0.416	B	0.37888	0.26	T	0.36768	-0.9734	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:1.0:0.0:0.0	.	326	P30872	SSR1_HUMAN	F	326	ENSP00000267377:L326F	ENSP00000267377:L326F	L	+	1	0	SSTR1	37749321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.450000	0.44943	2.514000	0.84764	0.561000	0.74099	CTC		0.582	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			28	58	0	0	0	1	0	28	58				
KBTBD3	143879	broad.mit.edu	37	11	105929646	105929646	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:105929646T>C	ENST00000531482.2	-	1	192	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000526793.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GATTATTTCATCTTTCATAAT	0.313																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(178-180)gAt>gGt		kelch repeat and BTB (POZ) domain containing 3							91.0	90.0	91.0					11																	105929646		2201	4299	6500	SO:0001583	missense	143879							g.chr11:105929646T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.179A>G	11.37:g.105929646T>C	ENSP00000475836:p.Asp60Gly					KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G	p.D60G	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	338	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	56			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.179A>G		.	.	.	.	.	.	.	.	.	.	T	4.802	0.149172	0.09185	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.67345	-0.26;-0.26	5.7	4.58	0.56647	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.167465	0.64402	D	0.000015	T	0.44891	0.1315	N	0.10782	0.045	0.41702	D	0.9894	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.26360	-1.0105	10	0.19590	T	0.45	.	11.4618	0.50215	0.0:0.0702:0.0:0.9297	.	60;56	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	G	60	ENSP00000436262:D60G;ENSP00000432163:D60G	ENSP00000436262:D60G	D	-	2	0	KBTBD3	105434856	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.854000	0.55949	0.997000	0.38969	0.533000	0.62120	GAT		0.313	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		16	38	0	0	0	1	0	16	38				
CSMD3	114788	broad.mit.edu	37	8	113240989	113240989	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:113240989G>T	ENST00000297405.5	-	70	11204	c.10960C>A	c.(10960-10962)Caa>Aaa	p.Q3654K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3654						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTACCTTTGTTTATAAAGA	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10960-10962)Caa>Aaa		CUB and Sushi multiple domains 3							64.0	70.0	68.0					8																	113240989		2203	4295	6498	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113240989G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10960C>A	8.37:g.113240989G>T	ENSP00000297405:p.Gln3654Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K	p.Q3654K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11204	-			3654					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10960C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090627	0.94149	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.11;2.11;2.14;1.8;2.13	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.49253	0.1546	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.59767	0.986;0.975;0.971	D;D;P	0.72338	0.977;0.949;0.77	T	0.32534	-0.9903	10	0.54805	T	0.06	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	3485;3654;3614	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3614;3654;2924;3485;3584	ENSP00000345799:Q3614K;ENSP00000297405:Q3654K;ENSP00000341558:Q2924K;ENSP00000412263:Q3485K;ENSP00000343124:Q3584K	ENSP00000297405:Q3654K	Q	-	1	0	CSMD3	113310165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CAA		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	63	1	0	1	1	1	4	63				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	43	0	0	0	1	0	4	43				
ZNF518A	9849	broad.mit.edu	37	10	97917472	97917472	+	RNA	SNP	C	C	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:97917472C>G	ENST00000534948.1	+	0	2250							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCCTATCAAACAAAATGTATG	0.398																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							107.0	106.0	107.0					10																	97917472		1880	4105	5985			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917472C>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917472C>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2250	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.398	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		27	56	0	0	0	1	0	27	56				
ZNF793	390927	broad.mit.edu	37	19	38023375	38023375	+	Missense_Mutation	SNP	G	G	A	rs200037315		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:38023375G>A	ENST00000587143.1	+	4	368	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I|ZNF793_ENST00000445217.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.			V -> A (in Ref. 1; BAD18564). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGCAACCTCGTCTCAGTGGG	0.507																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(133-135)Gtc>Atc		zinc finger protein 793		G	ILE/VAL	7,4381	12.9+/-30.5	0,7,2187	64.0	67.0	66.0		133	2.2	1.0	19		66	0,8596		0,0,4298	yes	missense	ZNF793	NM_001013659.2	29	0,7,6485	AA,AG,GG		0.0,0.1595,0.0539	possibly-damaging	45/407	38023375	7,12977	2194	4298	6492	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38023375G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.133G>A	19.37:g.38023375G>A	ENSP00000468605:p.Val45Ile					ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587143.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I|ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I	p.V45I			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	168	+			45			KRAB.		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.133G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364773	0.41902	0.001595	0.0	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.02197	4.4;4.4	3.29	2.23	0.28157	.	.	.	.	.	T	0.01353	0.0044	N	0.04746	-0.17	0.21861	N	0.999508	B	0.23990	0.095	B	0.17979	0.02	T	0.48163	-0.9059	9	0.45353	T	0.12	.	6.3775	0.21515	0.1424:0.0:0.8576:0.0	.	45	E9PGN4	.	I	45;45;45;44	ENSP00000444355:V45I;ENSP00000396402:V45I	ENSP00000318811:V44I	V	+	1	0	ZNF793	42715215	0.501000	0.26099	0.994000	0.49952	0.966000	0.64601	0.895000	0.28363	0.696000	0.31696	0.563000	0.77884	GTC		0.507	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		15	28	0	0	0	1	0	15	28				
PNPLA7	375775	broad.mit.edu	37	9	140444626	140444626	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr9:140444626G>C	ENST00000277531.4	-	1	210	c.24C>G	c.(22-24)agC>agG	p.S8R	PNPLA7_ENST00000406427.1_Missense_Mutation_p.S8R|MRPL41_ENST00000371443.5_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATACCTGTGGGCTGTCATCTT	0.562																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(22-24)agC>agG		patatin-like phospholipase domain containing 7							124.0	109.0	114.0					9																	140444626		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140444626G>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.24C>G	9.37:g.140444626G>C	ENSP00000277531:p.Ser8Arg					PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R	p.S8R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	1	360	-	all_cancers(76;0.126)		8					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.24C>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185882	0.21870	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000371450	T;T	0.60672	0.17;0.25	3.22	2.31	0.28768	.	1.458410	0.04413	N	0.366316	T	0.50309	0.1608	L	0.47716	1.5	0.09310	N	0.999995	B;B	0.31351	0.32;0.214	B;B	0.25987	0.065;0.029	T	0.44967	-0.9293	10	0.72032	D	0.01	.	6.3713	0.21483	0.1427:0.0:0.8573:0.0	.	8;8	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	8	ENSP00000277531:S8R;ENSP00000384610:S8R	ENSP00000277531:S8R	S	-	3	2	PNPLA7	139564447	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	1.210000	0.32370	0.697000	0.31718	0.555000	0.69702	AGC		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		25	47	0	0	0	1	0	25	47				
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		7	80						7	80	---	---	---	---
RP11-179A10.1	0	broad.mit.edu	37	11	11158593	11158593	+	lincRNA	DEL	A	A	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:11158593delA	ENST00000525758.1	+	0	108																											aaaaaaaaagaaaaaaaaata	0.388																																						ENST00000525758.1																			0																																																			0							g.chr11:11158593delA																													11.37:g.11158593delA														0	108	+									RNA	DEL	ENST00000525758.1	37																																																																																						0.388	RP11-179A10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000386930.1			5	6						5	6	---	---	---	---
ATM	472	broad.mit.edu	37	11	108124735	108124736	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:108124735_108124736delCA	ENST00000452508.2	+	14	2282_2283	c.2093_2094delCA	c.(2092-2094)tcafs	p.S698fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.S698fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	698					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)	p.C693_Q700>E(1)		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)	CTGGGATTATCAGAACAGCTTC	0.371			"""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		1	Complex - deletion inframe(1)	p.C693_Q700>E(1)	haematopoietic_and_lymphoid_tissue(1)	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.(2092-2094)tfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001589	frameshift_variant	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.chr11:108124735_108124736delCA	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.2093_2094delCA	11.37:g.108124735_108124736delCA	ENSP00000388058:p.Ser698fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.S698fs	p.S698fs	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)	13	2478_2479	+		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)	698					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.2093_2094delCA	CCDS31669.1																																																																																				0.371	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		14	77						14	77	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061202	38061203	+	Frame_Shift_Ins	INS	-	-	GCGGC			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38061202_38061203insGCGGC	ENST00000250448.2	-	2	847_848	c.786_787insGCCGC	c.(784-789)cgccagfs	p.Q263fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGT	0.713																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(784-789)cgagaafs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061202_38061203insGCGGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.782_786dupGCCGC	14.37:g.38061203_38061207dupGCGGC	ENSP00000250448:p.Gln263fs					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.E230fs	p.E263fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	847_848	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		263					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	ENST00000250448.2	37	c.786_787insGCCGC	CCDS9665.1																																																																																				0.713	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	8						5	8	---	---	---	---
EVPLL	645027	broad.mit.edu	37	17	18286659	18286659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:18286659delG	ENST00000399134.4	+	8	1105	c.747delG	c.(745-747)gtgfs	p.V249fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	249										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCGCATGGTGGAGCTGCGGC	0.711																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(745-747)gtfs		envoplakin-like							25.0	32.0	30.0					17																	18286659		691	1591	2282	SO:0001589	frameshift_variant	645027							g.chr17:18286659delG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.747delG	17.37:g.18286659delG	ENSP00000382086:p.Val249fs					RP1-37N7.1_ENST00000579352.1_RNA	p.V249fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			8	1105	+			249					B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.747delG	CCDS45626.1																																																																																				0.711	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		2	4						2	4	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	6						4	6	---	---	---	---
