#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
EPB41L3	23136	broad.mit.edu	37	18	5398132	5398132	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398132G>C	ENST00000341928.2	-	17	2700	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCCCCAGAAGACTGCTTAGT	0.418																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2359-2361)tCt>tGt		erythrocyte membrane protein band 4.1-like 3							191.0	206.0	201.0					18																	5398132		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398132G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2360C>G	18.37:g.5398132G>C	ENSP00000343158:p.Ser787Cys					EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C	p.S787C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2700	-			787			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2360C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875505	0.51695	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83250	-1.55;-1.7;-0.25;-0.38;-1.55	6.17	5.3	0.74995	.	0.691758	0.15460	N	0.261150	D	0.88224	0.6379	M	0.65975	2.015	0.39845	D	0.973162	P;P;D;D;P	0.59767	0.547;0.836;0.986;0.959;0.805	B;P;P;P;B	0.59171	0.391;0.518;0.853;0.503;0.401	D	0.88413	0.3023	10	0.59425	D	0.04	.	12.664	0.56830	0.132:0.0:0.868:0.0	.	618;84;92;179;787	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	787;618;84;92;787	ENSP00000343158:S787C;ENSP00000441174:S618C;ENSP00000392195:S84C;ENSP00000442233:S92C;ENSP00000341138:S787C	ENSP00000343158:S787C	S	-	2	0	EPB41L3	5388132	1.000000	0.71417	0.987000	0.45799	0.925000	0.55904	5.013000	0.64023	1.628000	0.50416	-0.150000	0.13652	TCT		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		91	156	0	0	0	1	0	91	156				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	70	0	0	0	1	0	6	70				
ADAM7	8756	broad.mit.edu	37	8	24323222	24323222	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr8:24323222T>C	ENST00000175238.6	+	5	406	c.323T>C	c.(322-324)tTt>tCt	p.F108S	ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATCATTGTTTTTACCAAGGA	0.284																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(322-324)tTt>tCt		ADAM metallopeptidase domain 7							109.0	101.0	104.0					8																	24323222		2203	4299	6502	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24323222T>C	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.323T>C	8.37:g.24323222T>C	ENSP00000175238:p.Phe108Ser					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S|ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S	p.F108S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	5	406	+		Prostate(55;0.0181)	108					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.323T>C	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343989	0.41498	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.07114	3.22;3.22;3.22	4.67	3.42	0.39159	Peptidase M12B, propeptide (1);	0.129491	0.36167	N	0.002760	T	0.29158	0.0725	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.966;0.998	T	0.02925	-1.1093	10	0.66056	D	0.02	.	7.0969	0.25315	0.2005:0.0:0.0:0.7995	.	108;108	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	S	108	ENSP00000393073:F108S;ENSP00000175238:F108S;ENSP00000370166:F108S	ENSP00000175238:F108S	F	+	2	0	ADAM7	24379112	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	1.225000	0.32551	2.080000	0.62538	0.460000	0.39030	TTT		0.284	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		17	24	0	0	0	1	0	17	24				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	14	0	0	0	1	0	4	14				
HMCN1	83872	broad.mit.edu	37	1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	rs150494959	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R5176H(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15526-15528)cGt>cAt		hemicentin 1		G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	225.0	192.0	203.0		15527	-10.8	0.0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	29	0,11,6492	AA,AG,GG		0.0233,0.2043,0.0846	benign	5176/5636	186136027	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136027G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15527G>A	1.37:g.186136027G>A	ENSP00000271588:p.Arg5176His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			100	15756	+			5176			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15527G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990593	0.18966	0.002043	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87412	-2.25;-2.25	5.39	-10.8	0.00216	EGF-like calcium-binding (2);	0.402712	0.27764	N	0.017956	T	0.72716	0.3495	L	0.33093	0.98	0.09310	N	0.999995	B	0.13594	0.008	B	0.10450	0.005	T	0.48091	-0.9065	10	0.19147	T	0.46	.	13.2854	0.60241	0.657:0.0807:0.2623:0.0	.	5176	Q96RW7	HMCN1_HUMAN	H	5176	ENSP00000271588:R5176H;ENSP00000356462:R5176H	ENSP00000271588:R5176H	R	+	2	0	HMCN1	184402650	0.003000	0.15002	0.000000	0.03702	0.444000	0.32077	0.271000	0.18626	-2.778000	0.00362	-1.170000	0.01741	CGT		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	38	0	0	0	1	0	28	38				
FOLH1	2346	broad.mit.edu	37	11	49179513	49179513	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:49179513C>T	ENST00000256999.2	-	14	1783	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	FOLH1_ENST00000340334.7_Missense_Mutation_p.G493D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D|FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	508	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCTGGGCATGCCACTGAACTC	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1477-1479)gGc>gAc		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						70.0	71.0	71.0					11																	49179513		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179513C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1523G>A	11.37:g.49179513C>T	ENSP00000256999:p.Gly508Asp					FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000256999.2_Missense_Mutation_p.G508D|FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D	p.G493D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			15	1846	-			508			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1478G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	4.526	0.097578	0.08681	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.29	1.36	0.22044	.	0.238121	0.29868	N	0.010997	T	0.17152	0.0412	N	0.10874	0.06	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.23154	-1.0196	10	0.09590	T	0.72	.	5.4753	0.16692	0.0:0.6145:0.0:0.3855	.	493;493;508;508	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	D	508;508;493;200;493;511	ENSP00000256999:G508D;ENSP00000349129:G508D;ENSP00000344131:G493D;ENSP00000344086:G200D;ENSP00000431463:G493D	ENSP00000256999:G508D	G	-	2	0	FOLH1	49136089	0.000000	0.05858	0.009000	0.14445	0.841000	0.47740	0.111000	0.15458	0.229000	0.21039	0.411000	0.27672	GGC		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	50	0	0	0	1	0	3	50				
OR5D14	219436	broad.mit.edu	37	11	55563199	55563199	+	Silent	SNP	A	A	G	rs367818795		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:55563199A>G	ENST00000335605.1	+	1	168	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAACCCCAAATTTCACACTC	0.388																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(166-168)aaA>aaG		olfactory receptor, family 5, subfamily D, member 14		A		0,4400		0,0,2200	229.0	211.0	217.0		168	1.3	0.2	11		217	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5D14	NM_001004735.1		0,1,6495	GG,GA,AA		0.0116,0.0,0.0077		56/315	55563199	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563199A>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.168A>G	11.37:g.55563199A>G							p.K56K	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	168	+		all_epithelial(135;0.196)	56					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.168A>G	CCDS31508.1																																																																																				0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		4	76	0	0	0	1	0	4	76				
KCNA1	3736	broad.mit.edu	37	12	5021170	5021170	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr12:5021170C>T	ENST00000382545.3	+	2	1733	c.626C>T	c.(625-627)aCg>aTg	p.T209M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	209					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GACAACACCACGGTCATCTAC	0.542																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(625-627)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						117.0	92.0	100.0					12																	5021170		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021170C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.626C>T	12.37:g.5021170C>T	ENSP00000371985:p.Thr209Met					KCNA1_ENST00000543874.2_Intron	p.T209M	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1733	+			209					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.626C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226807	0.22542	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.69926	-0.44	4.86	4.86	0.63082	.	1.726710	0.03032	N	0.152282	D	0.84374	0.5458	M	0.93106	3.38	0.58432	D	0.999997	D	0.55605	0.972	P	0.50378	0.639	T	0.78229	-0.2285	10	0.59425	D	0.04	.	17.5143	0.87769	0.0:1.0:0.0:0.0	.	209	Q09470	KCNA1_HUMAN	M	209	ENSP00000371985:T209M	ENSP00000228858:T209M	T	+	2	0	KCNA1	4891431	1.000000	0.71417	0.969000	0.41365	0.095000	0.18619	4.716000	0.61916	2.676000	0.91093	0.655000	0.94253	ACG		0.542	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		32	28	0	0	0	1	0	32	28				
GNAZ	2781	broad.mit.edu	37	22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(625-627)cGc>cAc		guanine nucleotide binding protein (G protein), alpha z polypeptide							164.0	176.0	172.0					22																	23438508		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438508G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.626G>A	22.37:g.23438508G>A	ENSP00000248996:p.Arg209His					RTDR1_ENST00000216036.4_Intron	p.R209H	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1292	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		209					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.626G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039750	0.75732	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.92965	-3.14	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	H	0.97682	4.055	0.80722	D	1	D	0.69078	0.997	B	0.41174	0.349	D	0.96877	0.9643	10	0.87932	D	0	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	209	P19086	GNAZ_HUMAN	H	209;157	ENSP00000248996:R209H	ENSP00000248996:R209H	R	+	2	0	GNAZ	21768508	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	9.597000	0.98273	2.349000	0.79799	0.655000	0.94253	CGC		0.562	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		4	188	0	0	0	1	0	4	188				
LIPI	149998	broad.mit.edu	37	21	15537704	15537704	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr21:15537704T>A	ENST00000536861.1	-	6	740	c.741A>T	c.(739-741)caA>caT	p.Q247H	LIPI_ENST00000344577.2_Missense_Mutation_p.Q268H			Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTTAATGAATTGAATTCCTT	0.299																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(802-804)caA>caT		lipase, member I							61.0	64.0	63.0					21																	15537704		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15537704T>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.741A>T	21.37:g.15537704T>A	ENSP00000440381:p.Gln247His					LIPI_ENST00000536861.1_Missense_Mutation_p.Q247H	p.Q268H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	6	829	-			247					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.804A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.836|6.836	0.523506|0.523506	0.13066|0.13066	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000400211|ENST00000344577;ENST00000536861;ENST00000382981	.|D;D	.|0.91124	.|-2.79;-2.79	5.73|5.73	0.377|0.377	0.16198|0.16198	.|.	.|2.983030	.|0.00829	.|N	.|0.001643	D|D	0.86669|0.86669	0.5988|0.5988	L|L	0.48935|0.48935	1.535|1.535	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.18461	.|0.001;0.028	.|B;B	.|0.21917	.|0.008;0.037	T|T	0.67681|0.67681	-0.5608|-0.5608	5|10	.|0.51188	.|T	.|0.08	.|.	2.1436|2.1436	0.03781|0.03781	0.2768:0.0748:0.1361:0.5123|0.2768:0.0748:0.1361:0.5123	.|.	.|217;268	.|G1JSG6;Q6XZB0-2	.|.;.	F|H	97|268;247;112	.|ENSP00000343331:Q268H;ENSP00000440381:Q247H	.|ENSP00000343331:Q268H	I|Q	-|-	1|3	0|2	LIPI|LIPI	14459575|14459575	0.283000|0.283000	0.24277|0.24277	0.119000|0.119000	0.21687|0.21687	0.158000|0.158000	0.22134|0.22134	-0.113000|-0.113000	0.10774|0.10774	-0.095000|-0.095000	0.12351|0.12351	0.528000|0.528000	0.53228|0.53228	ATT|CAA		0.299	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		26	25	0	0	0	1	0	26	25				
PTEN	5728	broad.mit.edu	37	10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C	rs398123324		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAAAGGAGATATCAAGAG	0.478		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		58	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(4)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|endometrium(4)|ovary(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(43-45)aGa>aCa		phosphatase and tensin homolog							186.0	177.0	180.0					10																	89624270		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624270G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.44G>C	10.37:g.89624270G>C	ENSP00000361021:p.Arg15Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R15T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1401	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	15		R -> S (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.44G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831215	0.91036	.	.	ENSG00000171862	ENST00000371953	D	0.95980	-3.87	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.105614	0.64402	D	0.000007	D	0.96839	0.8968	H	0.95611	3.695	0.80722	D	1	P	0.36065	0.535	B	0.37346	0.247	D	0.97558	1.0096	9	.	.	.	-0.232	17.1609	0.86803	0.0:0.0:1.0:0.0	.	15	P60484	PTEN_HUMAN	T	15	ENSP00000361021:R15T	.	R	+	2	0	PTEN	89614250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.335000	0.79485	0.561000	0.74099	AGA		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		3	68	0	0	0	1	0	3	68				
FAM129B	64855	broad.mit.edu	37	9	130294013	130294013	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:130294013C>G	ENST00000373312.3	-	2	313	c.100G>C	c.(100-102)Gac>Cac	p.D34H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	34					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCATACTGGTCTTCATAGAAC	0.577																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(100-102)Gac>Cac		family with sequence similarity 129, member B							97.0	85.0	89.0					9																	130294013		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130294013C>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.100G>C	9.37:g.130294013C>G	ENSP00000362409:p.Asp34His					FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H|FAM129B_ENST00000468379.1_5'UTR	p.D34H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			2	313	-			34					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.100G>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971432	0.74246	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.23147	1.92;1.93	4.88	4.88	0.63580	.	0.250630	0.40302	N	0.001125	T	0.36717	0.0977	L	0.44542	1.39	0.43010	D	0.994545	D;D	0.59357	0.985;0.985	P;P	0.55303	0.773;0.773	T	0.11299	-1.0593	10	0.62326	D	0.03	-49.7004	15.5765	0.76392	0.0:1.0:0.0:0.0	.	21;34	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	21;34	ENSP00000362411:D21H;ENSP00000362409:D34H	ENSP00000362409:D34H	D	-	1	0	FAM129B	129333834	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.777000	0.55364	2.539000	0.85634	0.556000	0.70494	GAC		0.577	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		5	63	0	0	0	1	0	5	63				
ZNF716	441234	broad.mit.edu	37	7	57522851	57522851	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:57522851A>G	ENST00000420713.1	+	3	351	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGAAATGAGATGGTA	0.408																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(238-240)aAt>aGt		zinc finger protein 716							96.0	76.0	82.0					7																	57522851		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522851A>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.239A>G	7.37:g.57522851A>G	ENSP00000394248:p.Asn80Ser						p.N80S	NM_001159279.1	NP_001152751.1					3	351	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.239A>G	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589796	0.28357	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.04862	3.54	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.03651	0.0104	N	0.13235	0.315	0.21184	N	0.999767	B	0.17038	0.02	B	0.15052	0.012	T	0.41556	-0.9502	9	0.59425	D	0.04	.	3.8266	0.08856	1.0:0.0:0.0:0.0	.	68	A6NP11	ZN716_HUMAN	S	80;68	ENSP00000394248:N80S	ENSP00000387687:N68S	N	+	2	0	ZNF716	57526793	0.004000	0.15560	0.650000	0.29550	0.651000	0.38670	0.415000	0.21181	0.243000	0.21327	0.240000	0.17902	AAT		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		5	91	0	0	0	1	0	5	91				
MYO3B	140469	broad.mit.edu	37	2	171262117	171262117	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:171262117T>C	ENST00000408978.4	+	21	2637	c.2494T>C	c.(2494-2496)Ttt>Ctt	p.F832L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L|MYO3B_ENST00000334231.6_Missense_Mutation_p.F841L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	832	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGAACTGTGCTTTGGCATTCA	0.418																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2521-2523)Ttt>Ctt		myosin IIIB							115.0	108.0	110.0					2																	171262117		1907	4133	6040	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171262117T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2494T>C	2.37:g.171262117T>C	ENSP00000386213:p.Phe832Leu					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.F832L|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L	p.F841L			Q8WXR4	MYO3B_HUMAN			21	2521	+			832			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2521T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	34	5.336133	0.95758	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92247	0.7541	M	0.93939	3.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94170	0.7422	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	832;832;832	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	L	832;832;831;841;841	ENSP00000386497:F832L;ENSP00000386213:F832L;ENSP00000446237:F841L;ENSP00000335100:F841L	ENSP00000314213:F831L	F	+	1	0	MYO3B	170970363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.942000	0.87708	2.219000	0.72066	0.533000	0.62120	TTT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			4	50	0	0	0	1	0	4	50				
KLHL1	57626	broad.mit.edu	37	13	70293517	70293517	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr13:70293517G>T	ENST00000377844.4	-	9	2758	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	667					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACATAATCCAGTAGCCGGGAA	0.463																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1999-2001)Ctg>Atg		kelch-like family member 1							109.0	105.0	106.0					13																	70293517		2203	4299	6502	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293517G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1999C>A	13.37:g.70293517G>T	ENSP00000367075:p.Leu667Met					KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	p.L667M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2758	-		Breast(118;0.000162)	667					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1999C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125288	0.56721	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.81579	-1.51;-1.51	5.82	3.76	0.43208	Galactose oxidase, beta-propeller (1);	1.779740	0.03426	N	0.207057	D	0.86690	0.5993	L	0.54323	1.7	0.29162	N	0.877675	D;D	0.64830	0.994;0.988	D;D	0.63033	0.91;0.91	T	0.69587	-0.5105	10	0.46703	T	0.11	.	8.4894	0.33091	0.3039:0.0:0.6961:0.0	.	667;667	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	M	667;474	ENSP00000367075:L667M;ENSP00000439602:L474M	ENSP00000367075:L667M	L	-	1	2	KLHL1	69191518	1.000000	0.71417	0.624000	0.29186	0.864000	0.49448	3.687000	0.54692	1.385000	0.46445	0.561000	0.74099	CTG		0.463	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		28	40	1	0	1.55811e-20	1	1.60139e-20	28	40				
SNHG14	104472715	broad.mit.edu	37	15	25440084	25440084	+	RNA	SNP	A	A	C	rs375506330		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:25440084A>C	ENST00000424208.1	+	0	1460				SNHG14_ENST00000414175.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGATGAGAAACTTATATTGT	0.522																																						ENST00000424208.1																			0															C		1,1751		0,1,875	336.0	343.0	341.0			-0.9	0.0	15		341	0,3982		0,0,1991	no	intergenic				0,1,2866	CC,CA,AA		0.0,0.0571,0.0174			25440084	1,5733	876	1991	2867			0							g.chr15:25440084A>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25440084A>C						SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1460	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.522	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			6	265	0	0	0	1	0	6	265				
TRIML1	339976	broad.mit.edu	37	4	189060901	189060901	+	Silent	SNP	G	G	A	rs147444946	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													G|||	4	0.000798722	0.003	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(187-189)ccG>ccA		tripartite motif family-like 1		G		5,4401	9.9+/-24.2	0,5,2198	83.0	88.0	86.0		189	-11.2	0.0	4	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	TRIML1	NM_178556.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		63/469	189060901	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060901G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.189G>A	4.37:g.189060901G>A							p.P63P	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	329	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	63					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.189G>A	CCDS3851.1																																																																																				0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		6	113	0	0	0	1	0	6	113				
NEDD4	4734	broad.mit.edu	37	15	56142778	56142778	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:56142778G>A	ENST00000508342.1	-	10	2865	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	856	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATAAAGAAAGGCCTCCCATTT	0.428																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2566-2568)Cct>Tct		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							196.0	211.0	206.0					15																	56142778		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142778G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2566C>T	15.37:g.56142778G>A	ENSP00000424827:p.Pro856Ser					NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S	p.P856S			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2865	-			856			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2566C>T		.	.	.	.	.	.	.	.	.	.	G	17.11	3.306221	0.60305	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.45	5.45	0.79879	WW/Rsp5/WWP (6);	0.353337	0.36893	N	0.002352	D	0.88789	0.6532	L	0.47078	1.49	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.22;0.236;0.364	D;B;P;B	0.76575	0.988;0.295;0.47;0.341	D	0.89015	0.3431	10	0.62326	D	0.03	.	18.6111	0.91285	0.0:0.0:1.0:0.0	.	840;437;856;784	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	S	856;437;784;840	ENSP00000424827:P856S;ENSP00000410613:P437S;ENSP00000345530:P784S;ENSP00000422705:P840S	ENSP00000345530:P784S	P	-	1	0	NEDD4	53930070	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.800000	0.85949	2.712000	0.92718	0.557000	0.71058	CCT		0.428	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		16	242	0	0	0	1	0	16	242				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32				
MYO7A	4647	broad.mit.edu	37	11	76903174	76903174	+	Missense_Mutation	SNP	G	G	A	rs375066152		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:76903174G>A	ENST00000409709.3	+	31	4275	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1335	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGCAGGGCGCCCAGGAGCG	0.662											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4003-4005)Gcc>Acc		myosin VIIA		G	THR/ALA,THR/ALA	0,4224		0,0,2112	52.0	62.0	59.0		4003,4003	4.6	1.0	11		59	1,8417		0,1,4208	no	missense,missense	MYO7A	NM_000260.3,NM_001127180.1	58,58	0,1,6320	AA,AG,GG		0.0119,0.0,0.0079	benign,benign	1335/2216,1335/2176	76903174	1,12641	2112	4209	6321	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903174G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4003G>A	11.37:g.76903174G>A	ENSP00000386331:p.Ala1335Thr		OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T	p.A1335T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			31	4275	+			1335			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4003G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481624	0.84747	0.0	1.19E-4	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.62	4.62	0.57501	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.45581	1.43	0.80722	D	1	D;P;D	0.89917	0.975;0.926;1.0	P;P;D	0.81914	0.894;0.476;0.995	T	0.78545	-0.2163	10	0.23891	T	0.37	.	17.4596	0.87617	0.0:0.0:1.0:0.0	.	1324;1335;1335	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1335;1335;1324;546;1334;1304;1211;516	ENSP00000386331:A1335T;ENSP00000392185:A1335T;ENSP00000386635:A1324T;ENSP00000417017:A516T	ENSP00000345075:A1211T	A	+	1	0	MYO7A	76580822	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.422000	0.73357	2.105000	0.64084	0.471000	0.43371	GCC		0.662	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		14	16	0	0	0	1	0	14	16				
MAP3K5	4217	broad.mit.edu	37	6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A	rs199742266	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:136904865G>A	ENST00000359015.4	-	24	3599	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L|MAP3K5_ENST00000463140.1_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1080					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18177	0.0		0.0	False		,,,				2504	0.0					ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3238-3240)cCg>cTg		mitogen-activated protein kinase kinase kinase 5		G	LEU/PRO	0,4406		0,0,2203	164.0	149.0	154.0		3239	5.0	1.0	6		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP3K5	NM_005923.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1080/1375	136904865	1,13005	2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136904865G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3239C>T	6.37:g.136904865G>A	ENSP00000351908:p.Pro1080Leu					MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L	p.P1080L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	24	3599	-	Colorectal(23;0.24)		1080					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3239C>T	CCDS5179.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.141	-0.649511	0.03506	0.0	1.16E-4	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.68765	-0.21;-0.35	5.86	4.99	0.66335	.	0.324362	0.33382	N	0.004974	T	0.27489	0.0675	N	0.05158	-0.105	0.43122	D	0.994843	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11867	-1.0570	10	0.21014	T	0.42	.	12.7135	0.57102	0.0754:0.0:0.9246:0.0	.	1161;1080	Q59GL6;Q99683	.;M3K5_HUMAN	L	1080;327;1160	ENSP00000351908:P1080L;ENSP00000348104:P327L	ENSP00000348104:P327L	P	-	2	0	MAP3K5	136946558	1.000000	0.71417	0.951000	0.38953	0.337000	0.28794	4.899000	0.63245	2.770000	0.95276	0.655000	0.94253	CCG		0.453	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			6	94	0	0	0	1	0	6	94				
KMT2C	58508	broad.mit.edu	37	7	151878079	151878079	+	Missense_Mutation	SNP	C	C	T	rs202108375		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:151878079C>T	ENST00000262189.6	-	36	7084	c.6866G>A	c.(6865-6867)cGt>cAt	p.R2289H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2289H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2289					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGGAAACACGGCTAAATGT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0					ENST00000355193.2																			0											c.(6865-6867)cGt>cAt		lysine (K)-specific methyltransferase 2C							104.0	105.0	104.0					7																	151878079		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878079C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6866G>A	7.37:g.151878079C>T	ENSP00000262189:p.Arg2289His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R2289H	p.R2289H							36	7084	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6866G>A	CCDS5931.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.834	0.523014	0.13066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.7	5.09	-0.876	0.10624	.	0.487586	0.15266	N	0.271514	T	0.62245	0.2412	N	0.05124	-0.11	0.49483	D	0.999798	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.42999	-0.9418	10	0.30854	T	0.27	.	9.7695	0.40580	0.0:0.2196:0.0:0.7804	.	2289;1350	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	2289	ENSP00000262189:R2289H;ENSP00000347325:R2289H	ENSP00000262189:R2289H	R	-	2	0	MLL3	151509012	0.089000	0.21612	0.000000	0.03702	0.826000	0.46750	0.246000	0.18160	-0.024000	0.13941	0.655000	0.94253	CGT		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	71	0	0	0	1	0	21	71				
BTD	686	broad.mit.edu	37	3	15686469	15686469	+	Missense_Mutation	SNP	C	C	T	rs397514400		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:15686469C>T	ENST00000303498.5	+	4	1215	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	BTD_ENST00000437172.1_Missense_Mutation_p.P371L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L|BTD_ENST00000383778.4_Missense_Mutation_p.P349L	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	369					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TCAGGCGATCCGTACTGTGAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20660	0.0		0.0	False		,,,				2504	0.0					ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18	GRCh37	CM024508	BTD	M		c.(1045-1047)cCg>cTg		biotinidase							109.0	107.0	108.0					3																	15686469		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686469C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1106C>T	3.37:g.15686469C>T	ENSP00000306477:p.Pro369Leu					BTD_ENST00000303498.5_Missense_Mutation_p.P369L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L|BTD_ENST00000437172.1_Missense_Mutation_p.P371L	p.P349L			P43251	BTD_HUMAN			4	1404	+			369			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.1046C>T	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765072	0.15914	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.05	3.18	0.36537	.	0.737323	0.13548	N	0.379718	T	0.74512	0.3726	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.08055	0.003;0.003;0.003	T	0.61710	-0.7007	10	0.48119	T	0.1	-37.1203	1.8787	0.03223	0.2522:0.4593:0.1251:0.1635	.	371;371;369	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	L	371;369;371;349	ENSP00000388212:P371L;ENSP00000306477:P369L;ENSP00000400995:P371L;ENSP00000373288:P349L	ENSP00000306477:P369L	P	+	2	0	BTD	15661473	0.000000	0.05858	0.013000	0.15412	0.608000	0.37181	0.295000	0.19065	1.376000	0.46267	0.561000	0.74099	CCG		0.468	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	109	0	0	0	1	0	4	109				
POTEG	404785	broad.mit.edu	37	14	19553596	19553596	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr14:19553596G>C	ENST00000409832.3	+	1	232	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	60										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.612																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(178-180)aaG>aaC		POTE ankyrin domain family, member G							118.0	164.0	148.0					14																	19553596		2199	4288	6487	SO:0001583	missense	404785							g.chr14:19553596G>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.180G>C	14.37:g.19553596G>C	ENSP00000386971:p.Lys60Asn						p.K60N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	232	+			60					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.180G>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	9.771	1.172775	0.21704	.	.	ENSG00000222036	ENST00000409832	T	0.38240	1.15	.	.	.	.	.	.	.	.	T	0.31071	0.0785	L	0.61218	1.895	0.09310	N	1	P	0.48089	0.905	B	0.40901	0.343	T	0.15464	-1.0436	7	0.38643	T	0.18	.	.	.	.	.	60	Q6S5H5	POTEG_HUMAN	N	60	ENSP00000386971:K60N	ENSP00000386971:K60N	K	+	3	2	POTEG	18623596	0.003000	0.15002	0.025000	0.17156	0.025000	0.11179	0.488000	0.22371	0.162000	0.19483	0.165000	0.16767	AAG		0.612	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		10	841	0	0	0	1	0	10	841				
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1093-1095)gGc>gAc		coiled-coil domain containing 110							138.0	145.0	142.0					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D	p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1169	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	124	0	0	0	1	0	4	124				
HNRNPL	3191	broad.mit.edu	37	19	39330862	39330862	+	Silent	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr19:39330862A>G	ENST00000221419.5	-	8	1473	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	HNRNPL_ENST00000600873.1_Silent_p.P236P|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	369	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.P369P(2)|p.P236P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTGGTGGGGGAGGGGGTGGGG	0.622																																						ENST00000221419.5																			4	Substitution - coding silent(4)	p.P369P(2)|p.P236P(2)	lung(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1105-1107)ccT>ccC		heterogeneous nuclear ribonucleoprotein L							9.0	12.0	11.0					19																	39330862		1588	3219	4807	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330862A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1107T>C	19.37:g.39330862A>G						HNRNPL_ENST00000600873.1_Silent_p.P236P	p.P369P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1473	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		369			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1107T>C	CCDS33015.1																																																																																				0.622	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	9	0	0	0	1	0	3	9				
DLGAP1	9229	broad.mit.edu	37	18	3879314	3879314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:3879314C>T	ENST00000315677.3	-	4	1350	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTGCTCCGGGAGGCCTT	0.657																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(754-756)cGg>cAg		discs, large (Drosophila) homolog-associated protein 1							61.0	60.0	60.0					18																	3879314		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879314C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.755G>A	18.37:g.3879314C>T	ENSP00000316377:p.Arg252Gln					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q	p.R252Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1350	-		Colorectal(8;0.0257)	252					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.755G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066678	0.93898	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.28666	1.6;1.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.83275	0.944;0.996;0.788	T	0.56817	-0.7916	10	0.72032	D	0.01	-21.5295	19.4162	0.94700	0.0:1.0:0.0:0.0	.	252;252;252	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	Q	252	ENSP00000316377:R252Q;ENSP00000445973:R252Q	ENSP00000316377:R252Q	R	-	2	0	DLGAP1	3869314	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.555000	0.60767	2.605000	0.88082	0.655000	0.94253	CGG		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			19	35	0	0	0	1	0	19	35				
EPB41L3	23136	broad.mit.edu	37	18	5398141	5398141	+	Splice_Site	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398141G>C	ENST00000341928.2	-	17	2691	c.2351C>G	c.(2350-2352)aCt>aGt	p.T784S	EPB41L3_ENST00000427684.2_Splice_Site_p.T81S|EPB41L3_ENST00000342933.3_Splice_Site_p.T784S|EPB41L3_ENST00000542146.1_Splice_Site_p.T89S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Splice_Site_p.T615S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	784	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGACTGCTTAGTCTGAGTGAA	0.433																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.e17-1		erythrocyte membrane protein band 4.1-like 3							175.0	189.0	184.0					18																	5398141		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398141G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2350-1C>G	18.37:g.5398141G>C						EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Splice_Site_p.T81_splice|EPB41L3_ENST00000544123.1_Splice_Site_p.T615_splice|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.T784_splice|EPB41L3_ENST00000542146.1_Splice_Site_p.T89_splice	p.T784_splice	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2691	-			784			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.2349_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159547	0.38119	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	T;D;T;T;T	0.82167	-1.43;-1.58;-0.23;-0.25;-1.43	6.17	6.17	0.99709	.	0.153108	0.56097	D	0.000023	D	0.90504	0.7025	M	0.73598	2.24	0.45403	D	0.998382	P;D;D;P;P	0.76494	0.868;0.998;0.999;0.745;0.862	B;D;D;B;B	0.80764	0.269;0.978;0.994;0.114;0.293	D	0.89074	0.3471	10	0.41790	T	0.15	.	16.376	0.83392	0.0:0.0:0.8677:0.1323	.	615;81;89;176;784	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	S	784;615;81;89;784	ENSP00000343158:T784S;ENSP00000441174:T615S;ENSP00000392195:T81S;ENSP00000442233:T89S;ENSP00000341138:T784S	ENSP00000343158:T784S	T	-	2	0	EPB41L3	5388141	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.254000	0.65457	2.941000	0.99782	0.655000	0.94253	ACT		0.433	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Missense_Mutation	85	147	0	0	0	1	0	85	147				
PHGDH	26227	broad.mit.edu	37	1	120277978	120277978	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:120277978C>T	ENST00000369409.4	+	7	840	c.704C>T	c.(703-705)gCc>gTc	p.A235V	PHGDH_ENST00000369407.3_Missense_Mutation_p.A201V	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	235					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GTGAACTGTGCCCGTGGAGGG	0.617																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(601-603)gCc>gTc		phosphoglycerate dehydrogenase	NADH(DB00157)						99.0	101.0	100.0					1																	120277978		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277978C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.704C>T	1.37:g.120277978C>T	ENSP00000358417:p.Ala235Val					PHGDH_ENST00000369409.4_Missense_Mutation_p.A235V	p.A201V			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	6	2109	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	235					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.602C>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	36	5.601639	0.96614	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.88124	-2.34;-2.34	5.23	5.23	0.72850	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	D	0.98329	1.0532	10	0.87932	D	0	-21.1664	17.3551	0.87333	0.0:1.0:0.0:0.0	.	107;201;201;108;235	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	V	235;108;67;201	ENSP00000358417:A235V;ENSP00000358415:A201V	ENSP00000358415:A201V	A	+	2	0	PHGDH	120079501	1.000000	0.71417	0.444000	0.26895	0.889000	0.51656	5.671000	0.68095	2.459000	0.83118	0.655000	0.94253	GCC		0.617	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		4	105	0	0	0	1	0	4	105				
CNOT11	55571	broad.mit.edu	37	2	101874343	101874343	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:101874343G>A	ENST00000289382.3	+	2	768	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	202					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											AAGACGCCTCGCCAGATTGCA	0.493																																						ENST00000289382.3																			0											c.(604-606)cGc>cAc		CCR4-NOT transcription complex, subunit 11							98.0	87.0	90.0					2																	101874343		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101874343G>A	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.605G>A	2.37:g.101874343G>A	ENSP00000289382:p.Arg202His						p.R202H	NM_017546.4	NP_060016.3					2	768	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.605G>A	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265623	0.80358	.	.	ENSG00000158435	ENST00000289382	T	0.35421	1.31	6.14	6.14	0.99180	.	0.256370	0.39274	N	0.001418	T	0.53254	0.1785	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.34304	-0.9834	10	0.37606	T	0.19	-14.9544	20.8597	0.99761	0.0:0.0:1.0:0.0	.	202	Q9UKZ1	CB029_HUMAN	H	202	ENSP00000289382:R202H	ENSP00000289382:R202H	R	+	2	0	C2orf29	101240775	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	CGC		0.493	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		23	30	0	0	0	1	0	23	30				
ARHGAP27	201176	broad.mit.edu	37	17	43475409	43475409	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:43475409C>T	ENST00000428638.1	-	10	1747	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R361Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	583	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATCTCGGCTCCGTAGCTGGAG	0.592																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1081-1083)cGg>cAg		Rho GTPase activating protein 27							87.0	74.0	78.0					17																	43475409		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43475409C>T	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1748G>A	17.37:g.43475409C>T	ENSP00000403323:p.Arg583Gln					ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R583Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q	p.R361Q			Q6ZUM4	RHG27_HUMAN			9	1217	-	Renal(3;0.0405)		583					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1082G>A		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271250	0.59649	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.72	1.67	0.24075	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.285900	0.33772	N	0.004572	T	0.62672	0.2447	L	0.60455	1.87	0.80722	D	1	P;P;D	0.56035	0.85;0.927;0.974	B;B;B	0.37550	0.137;0.071;0.253	T	0.60732	-0.7205	10	0.66056	D	0.02	.	6.7916	0.23703	0.0:0.6252:0.0:0.3748	.	361;556;583	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	Q	361;242;215;561;583;556;242	ENSP00000432762:R361Q;ENSP00000366121:R242Q;ENSP00000431591:R215Q;ENSP00000433942:R561Q;ENSP00000403323:R583Q;ENSP00000409330:R556Q;ENSP00000408235:R242Q	ENSP00000366121:R242Q	R	-	2	0	ARHGAP27	40831192	0.790000	0.28787	0.997000	0.53966	0.944000	0.59088	0.373000	0.20484	0.240000	0.21263	0.485000	0.47835	CGG		0.592	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		25	26	0	0	0	1	0	25	26				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	65	0	0	0	1	0	3	65				
LINC00877	285286	broad.mit.edu	37	3	72136648	72136648	+	lincRNA	DEL	G	G	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:72136648delG	ENST00000468646.2	-	0	366					NR_104116.1				long intergenic non-protein coding RNA 877																		CTGACTACCAGGCCCCGGAGG	0.587																																						ENST00000468646.2																			0																																																			0							g.chr3:72136648delG	AK097190		3p13	2013-06-18			ENSG00000241163	ENSG00000241163		"""Long non-coding RNAs"""	27706	non-coding RNA	RNA, long non-coding							Standard	NR_104116		Approved				OTTHUMG00000158784		3.37:g.72136648delG														0	366	-									RNA	DEL	ENST00000468646.2	37																																																																																						0.587	LINC00877-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352207.2			2	4						2	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578514	99578516	+	RNA	DEL	AGG	AGG	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:99578514_99578516delAGG	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		GAGGACTGGAAGGAGGTGAGGAA	0.596																																						ENST00000425474.1																			0																																																			0							g.chr7:99578514_99578516delAGG	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578517_99578519delAGG								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.596	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			9	170						9	170	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			4	6						4	6	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	17						8	17	---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6486802	6486804	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:6486802_6486804delAGA	ENST00000525074.1	-	2	516_518	c.122_124delTCT	c.(121-126)ttctgt>tgt	p.F41del	TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000359518.3_In_Frame_Del_p.F41del|TRIM3_ENST00000345851.3_In_Frame_Del_p.F41del|TRIM3_ENST00000537602.1_In_Frame_Del_p.F41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	41					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTCTCACAGAAGGTGTGCAG	0.596																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(121-126)tgt>t		tripartite motif containing 3																																				SO:0001651	inframe_deletion	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6486802_6486804delAGA	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.122_124delTCT	11.37:g.6486802_6486804delAGA	ENSP00000433102:p.Phe41del					TRIM3_ENST00000537602.1_In_Frame_Del_p.FC41del|TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000345851.3_In_Frame_Del_p.FC41del|TRIM3_ENST00000359518.3_In_Frame_Del_p.FC41del	p.FC41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	516_518	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	41					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	In_Frame_Del	DEL	ENST00000525074.1	37	c.122_124delTCT	CCDS7764.1																																																																																				0.596	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		9	88						9	88	---	---	---	---
RORA	6095	broad.mit.edu	37	15	61521357	61521357	+	Frame_Shift_Del	DEL	C	C	-	rs199719960		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:61521357delC	ENST00000335670.6	-	1	161	c.61delG	c.(61-63)gacfs	p.D21fs		NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	21					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGCCGCGTCCGCGCCGCTG	0.692																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(61-63)acfs		RAR-related orphan receptor A							4.0	5.0	5.0					15																	61521357		1945	3794	5739	SO:0001589	frameshift_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:61521357delC	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.61delG	15.37:g.61521357delC	ENSP00000335087:p.Asp21fs						p.D21fs	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			1	161	-			0			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Frame_Shift_Del	DEL	ENST00000335670.6	37	c.61delG	CCDS10177.1																																																																																				0.692	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			2	4						2	4	---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69833165	69833166	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr16:69833165_69833166delCT	ENST00000359154.2	+	4	408_409	c.307_308delCT	c.(307-309)ctcfs	p.L103fs	WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	103					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTGTCAACCTCTCCAACGTC	0.49											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(307-309)cfs		WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69833165_69833166delCT	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.307_308delCT	16.37:g.69833167_69833168delCT	ENSP00000352069:p.Leu103fs		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs	p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			4	408_409	+			103					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Del	DEL	ENST00000359154.2	37	c.307_308delCT	CCDS10885.1																																																																																				0.490	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		27	47						27	47	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579319	7579323	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-	rs587781495|rs587780067		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:7579319_7579323delGTCAC	ENST00000269305.4	-	4	553_557	c.364_368delGTGAC	c.(364-369)gtgactfs	p.VT122fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)	GACCGTGCAAGTCACAGACTTGGCT	0.551		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		26	Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Missense(2)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|urinary_tract(1)|liver(1)|ovary(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	CM065494	TP53	M		c.(364-369)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7579319_7579323delGTCAC	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.364_368delGTGAC	17.37:g.7579319_7579323delGTCAC	ENSP00000269305:p.Val122fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs	p.VT122fs	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)	4	496_500	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.364_368delGTGAC	CCDS11118.1																																																																																				0.551	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		63	11						63	11	---	---	---	---
TRIM65	201292	broad.mit.edu	37	17	73892940	73892940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:73892940delA	ENST00000269383.3	-	1	144	c.79delT	c.(79-81)tgcfs	p.C27fs	RP11-552F3.10_ENST00000587267.1_RNA	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	27						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTGGCCGCAGGGCAGCGTC	0.721																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(79-81)gcfs		tripartite motif containing 65							5.0	4.0	5.0					17																	73892940		2004	3964	5968	SO:0001589	frameshift_variant	201292					intracellular	zinc ion binding	g.chr17:73892940delA	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.79delT	17.37:g.73892940delA	ENSP00000269383:p.Cys27fs						p.C27fs	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	144	-			27					Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	37	c.79delT	CCDS11732.1																																																																																				0.721	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		2	4						2	4	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165596	50165597	+	RNA	DEL	AC	AC	-	rs72026364		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:50165596_50165597delAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TAAAAGGTAAacacacacacac	0.411																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165596_50165597delAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165606_50165607delAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	DEL	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATTTTTTTACTTTTCTTTTCTCCA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3133-3138)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937611_76937615delCTTTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3133_3137delAAAAG	X.37:g.76937616_76937620delCTTTT	ENSP00000362441:p.Lys1045fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	p.KS1045fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3347_3351	-			1045					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3133_3137delAAAAG	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		35	19						35	19	---	---	---	---
