#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
GLB1L3	112937	broad.mit.edu	37	11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:134179592C>G	ENST00000431683.2	+	11	1034	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	345					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATGGTGGAACCAACTTTGGT	0.468																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1033-1035)aCc>aGc		galactosidase, beta 1-like 3							87.0	83.0	84.0					11																	134179592		1921	4107	6028	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134179592C>G		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1034C>G	11.37:g.134179592C>G	ENSP00000396615:p.Thr345Ser						p.T345S	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	11	1034	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	345					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1034C>G	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261821	0.59431	.	.	ENSG00000166105	ENST00000431683	D	0.99136	-5.47	4.76	3.84	0.44239	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.225081	0.45126	D	0.000397	D	0.99055	0.9676	M	0.84585	2.705	0.46499	D	0.999077	D;D	0.76494	0.999;0.995	D;D	0.72982	0.976;0.979	D	0.98446	1.0589	10	0.66056	D	0.02	.	8.1902	0.31363	0.0:0.8938:0.0:0.1062	.	6;345	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	S	345	ENSP00000396615:T345S	ENSP00000396615:T345S	T	+	2	0	GLB1L3	133684802	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.865000	0.56033	2.619000	0.88677	0.455000	0.32223	ACC		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	4	0	0	0	1	0	5	4				
PNMA3	29944	broad.mit.edu	37	X	152226673	152226673	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:152226673G>A	ENST00000370264.4	+	1	1287	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	PNMA3_ENST00000370265.4_Missense_Mutation_p.G421S|PNMA3_ENST00000447306.1_Missense_Mutation_p.G421S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	421					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAAGACGGCCACATCAG	0.572																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1261-1263)Ggc>Agc		paraneoplastic Ma antigen 3							98.0	101.0	100.0					X																	152226673		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226673G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1261G>A	X.37:g.152226673G>A	ENSP00000359286:p.Gly421Ser					PNMA3_ENST00000370265.4_Missense_Mutation_p.G421S|PNMA3_ENST00000370264.4_Missense_Mutation_p.G421S	p.G421S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1597	+	Acute lymphoblastic leukemia(192;6.56e-05)		421					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.1261G>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	14.48	2.549014	0.45383	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.35605	1.37;1.3;1.3	1.99	1.99	0.26369	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.30727	0.0774	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.45660	0.489	T	0.14035	-1.0487	9	0.66056	D	0.02	.	6.8463	0.23990	0.0:0.0:1.0:0.0	.	421	Q9UL41	PNMA3_HUMAN	S	421	ENSP00000359288:G421S;ENSP00000407642:G421S;ENSP00000359286:G421S	ENSP00000359286:G421S	G	+	1	0	PNMA3	151977329	0.091000	0.21658	0.010000	0.14722	0.221000	0.24807	2.330000	0.43885	1.292000	0.44672	0.287000	0.19450	GGC		0.572	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		74	114	0	0	0	1	0	74	114				
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																						ENST00000285718.7																			1	Substitution - Missense(1)	p.L425V(1)	kidney(1)																																																0							g.chrX:155254735C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254735C>G						WASH6P_ENST00000461007.1_RNA								0	1180	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	7	0	0	0	1	0	3	7				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	4	0	0	0	1	0	24	4				
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	RNA	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:114355129G>A	ENST00000538033.2	+	0	2068							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GAGTCCATCCGCCAAGCTGGG	0.657																																						ENST00000538033.2																			0																																																			0							g.chr2:114355129G>A			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355129G>A														0	2068	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.657	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		6	15	0	0	0	1	0	6	15				
HIST2H2AC	8338	broad.mit.edu	37	1	149858535	149858535	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858535G>A	ENST00000331380.2	+	1	11	c.11G>A	c.(10-12)cGt>cAt	p.R4H	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ATGTCTGGTCGTGGCAAACAA	0.542																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(10-12)cGt>cAt		histone cluster 2, H2ac							84.0	91.0	89.0					1																	149858535		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858535G>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.11G>A	1.37:g.149858535G>A	ENSP00000332194:p.Arg4His						p.R4H	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	11	+	Breast(34;0.0124)|all_hematologic(923;0.127)		4					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.11G>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142085	0.37825	.	.	ENSG00000184260	ENST00000331380	T	0.44881	0.91	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45361	D	0.000376	T	0.63896	0.2550	M	0.89287	3.02	0.51233	D	0.999911	D	0.60160	0.987	P	0.60682	0.878	T	0.70536	-0.4845	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	4	Q16777	H2A2C_HUMAN	H	4	ENSP00000332194:R4H	ENSP00000332194:R4H	R	+	2	0	HIST2H2AC	148125159	1.000000	0.71417	0.219000	0.23793	0.692000	0.40212	9.666000	0.98612	2.745000	0.94114	0.655000	0.94253	CGT		0.542	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		39	80	0	0	0	1	0	39	80				
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(5)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						52.0	58.0	56.0					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R	p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1742	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		13	19	0	0	0	1	0	13	19				
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:6230661C>T	ENST00000252674.7	-	4	503	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	114					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - Missense(1)	p.V114M(1)	endometrium(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(340-342)Gtg>Atg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							169.0	169.0	169.0					19																	6230661		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230661C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.340G>A	19.37:g.6230661C>T	ENSP00000252674:p.Val114Met						p.V114M	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			4	503	-			114					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.340G>A	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869774	0.72065	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	M	0.81802	2.56	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.82364	-0.0494	9	0.87932	D	0	-28.3179	16.3961	0.83605	0.0:1.0:0.0:0.0	.	114	Q03111	ENL_HUMAN	M	114	.	ENSP00000252674:V114M	V	-	1	0	MLLT1	6181661	1.000000	0.71417	0.511000	0.27724	0.409000	0.31022	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GTG		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		109	17	0	0	0	1	0	109	17				
MT-CO3	4514	broad.mit.edu	37	M	9334	9334	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrM:9334T>C	ENST00000362079.2	+	1	128	c.128T>C	c.(127-129)cTc>cCc	p.L43P	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	43					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CATAACGCTCCTCATACTAGG	0.517																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(127-129)cTc>cCc		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9334T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.128T>C	M.37:g.9334T>C	ENSP00000354982:p.Leu43Pro						p.43_43insP							1	128	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.128T>C																																																																																					0.517	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		258	5	0	0	0	1	0	258	5				
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:16317206A>G	ENST00000291439.3	+	3	703	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCTTTCCTCTATAAGGTGGTG	0.592																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(253-255)tAt>tGt		adaptor-related protein complex 1, mu 1 subunit							305.0	285.0	292.0					19																	16317206		2203	4300	6503	SO:0001583	missense	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16317206A>G		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.254A>G	19.37:g.16317206A>G	ENSP00000291439:p.Tyr85Cys					AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000541844.1_Intron	p.Y85C	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			3	703	+			85					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.254A>G	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108242	0.56291	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.64991	0.46;0.47;-0.13	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.86805	2.84	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.73708	0.928;0.964;0.981	T	0.83123	-0.0117	10	0.72032	D	0.01	-18.4241	11.9469	0.52934	1.0:0.0:0.0:0.0	.	85;85;85	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	C	85	ENSP00000388996:Y85C;ENSP00000291439:Y85C;ENSP00000411498:Y85C	ENSP00000291439:Y85C	Y	+	2	0	AP1M1	16178206	1.000000	0.71417	0.902000	0.35471	0.518000	0.34316	8.716000	0.91420	1.511000	0.48818	0.533000	0.62120	TAT		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		5	210	0	0	0	1	0	5	210				
EBF1	1879	broad.mit.edu	37	5	158140122	158140122	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:158140122C>T	ENST00000313708.6	-	13	1507	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	EBF1_ENST00000517373.1_Missense_Mutation_p.E401K|EBF1_ENST00000380654.4_Missense_Mutation_p.E378K|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	409					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGGGCCTCGGCAATGTCG	0.522			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1225-1227)Gag>Aag		early B-cell factor 1							95.0	79.0	84.0					5																	158140122		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140122C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1225G>A	5.37:g.158140122C>T	ENSP00000322898:p.Glu409Lys					EBF1_ENST00000380654.4_Missense_Mutation_p.E378K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.E401K	p.E409K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1507	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	409					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1225G>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554302	0.96501	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.053759	0.64402	D	0.000001	T	0.65471	0.2694	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.62365	0.973;0.989;0.991;0.99	B;P;P;P	0.61722	0.153;0.893;0.672;0.642	T	0.60885	-0.7174	10	0.30078	T	0.28	-7.0788	20.2985	0.98592	0.0:1.0:0.0:0.0	.	409;396;409;378	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	K	409;409;378;401	ENSP00000322898:E409K;ENSP00000370029:E378K;ENSP00000428020:E401K	ENSP00000322898:E409K	E	-	1	0	EBF1	158072700	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAG		0.522	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		7	34	0	0	0	1	0	7	34				
KMT2D	8085	broad.mit.edu	37	12	49434535	49434535	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:49434535G>A	ENST00000301067.7	-	31	7017	c.7018C>T	c.(7018-7020)Ccc>Tcc	p.P2340S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2340	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGCTCTGGGGCTCTACCTGA	0.632																																						ENST00000301067.7																			0											c.(7018-7020)Ccc>Tcc		lysine (K)-specific methyltransferase 2D							19.0	22.0	21.0					12																	49434535		1848	4073	5921	SO:0001583	missense	8085							g.chr12:49434535G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7018C>T	12.37:g.49434535G>A	ENSP00000301067:p.Pro2340Ser						p.P2340S	NM_003482.3	NP_003473.3					31	7017	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7018C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283949	0.23392	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	5.07	5.07	0.68467	.	0.000000	0.38058	N	0.001838	T	0.81898	0.4920	L	0.41824	1.3	0.27526	N	0.951251	D	0.58268	0.982	P	0.52554	0.702	T	0.78079	-0.2344	10	0.87932	D	0	.	17.611	0.88053	0.0:0.0:1.0:0.0	.	2340	O14686	MLL2_HUMAN	S	2340	ENSP00000301067:P2340S	ENSP00000301067:P2340S	P	-	1	0	MLL2	47720802	0.811000	0.29063	1.000000	0.80357	0.986000	0.74619	0.923000	0.28757	2.536000	0.85505	0.655000	0.94253	CCC		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	19	0	0	0	1	0	15	19				
C1QL2	165257	broad.mit.edu	37	2	119914536	119914536	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:119914536G>T	ENST00000272520.3	-	2	1325	c.706C>A	c.(706-708)Cag>Aag	p.Q236K		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	236	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TCGGCGTCCTGTGCAATGGCG	0.642										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(706-708)Cag>Aag		complement component 1, q subcomponent-like 2							137.0	143.0	141.0					2																	119914536		2203	4300	6503	SO:0001583	missense	165257					collagen		g.chr2:119914536G>T	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.706C>A	2.37:g.119914536G>T	ENSP00000272520:p.Gln236Lys	HNSCC(49;0.14)					p.Q236K	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1325	-			236			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.706C>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883053	0.91740	.	.	ENSG00000144119	ENST00000272520	T	0.75050	-0.9	4.95	4.95	0.65309	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000002	T	0.77157	0.4089	L	0.60067	1.865	0.80722	D	1	P	0.41597	0.756	P	0.46885	0.53	T	0.76498	-0.2937	9	.	.	.	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	236	Q7Z5L3	C1QL2_HUMAN	K	236	ENSP00000272520:Q236K	.	Q	-	1	0	C1QL2	119631006	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	9.860000	0.99555	2.283000	0.76528	0.561000	0.74099	CAG		0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		70	81	1	0	1.50372e-20	1	1.57366e-20	70	81				
SEC22B	9554	broad.mit.edu	37	1	145109631	145109631	+	RNA	SNP	A	A	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:145109631A>C	ENST00000453618.1	+	0	620							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTTGATGAACAGCATGGAAAG	0.438																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							613.0	609.0	610.0					1																	145109631		2017	4195	6212			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109631A>C	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109631A>C										O75396	SC22B_HUMAN			0	620	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.438	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		47	431	0	0	0	1	0	47	431				
HIST2H2AC	8338	broad.mit.edu	37	1	149858537	149858537	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858537G>T	ENST00000331380.2	+	1	13	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCTGGTCGTGGCAAACAAGG	0.547																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(13-15)Ggc>Tgc		histone cluster 2, H2ac							85.0	91.0	89.0					1																	149858537		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858537G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.13G>T	1.37:g.149858537G>T	ENSP00000332194:p.Gly5Cys						p.G5C	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	13	+	Breast(34;0.0124)|all_hematologic(923;0.127)		5					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.13G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945767	0.34377	.	.	ENSG00000184260	ENST00000331380	T	0.45276	0.9	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45126	D	0.000397	T	0.77110	0.4082	H	0.98314	4.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.85790	0.1367	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	5	Q16777	H2A2C_HUMAN	C	5	ENSP00000332194:G5C	ENSP00000332194:G5C	G	+	1	0	HIST2H2AC	148125161	1.000000	0.71417	0.184000	0.23157	0.699000	0.40488	7.841000	0.86834	2.745000	0.94114	0.655000	0.94253	GGC		0.547	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		41	78	1	0	3.54561e-26	1	3.75417e-26	41	78				
DNAH10	196385	broad.mit.edu	37	12	124402320	124402320	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:124402320T>A	ENST00000409039.3	+	63	10863	c.10838T>A	c.(10837-10839)cTg>cAg	p.L3613Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3613	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATGTGGACCTGGTGCACACC	0.607																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10837-10839)cTg>cAg		dynein, axonemal, heavy chain 10							41.0	47.0	45.0					12																	124402320		2181	4259	6440	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124402320T>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10838T>A	12.37:g.124402320T>A	ENSP00000386770:p.Leu3613Gln						p.L3613Q	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	63	10863	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3613			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10838T>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743644	0.89663	.	.	ENSG00000197653	ENST00000409039	T	0.57107	0.42	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000008	D	0.83376	0.5241	H	0.99011	4.4	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.90223	0.4273	10	0.87932	D	0	.	14.6631	0.68888	0.0:0.0:0.0:1.0	.	3613	Q8IVF4	DYH10_HUMAN	Q	3613	ENSP00000386770:L3613Q	ENSP00000386770:L3613Q	L	+	2	0	DNAH10	122968273	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	1.884000	0.54569	0.402000	0.26972	CTG		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	2	0	0	0	1	0	4	2				
ABCA10	10349	broad.mit.edu	37	17	67193233	67193233	+	Silent	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:67193233T>C	ENST00000269081.4	-	12	2115	c.1206A>G	c.(1204-1206)ggA>ggG	p.G402G	ABCA10_ENST00000432313.2_Silent_p.G402G|ABCA10_ENST00000416101.2_Silent_p.G402G	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	402	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCCAGTCTTTCCATTATATT	0.388																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1204-1206)ggA>ggG		ATP-binding cassette, sub-family A (ABC1), member 10							119.0	112.0	114.0					17																	67193233		2200	4297	6497	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67193233T>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1206A>G	17.37:g.67193233T>C						ABCA10_ENST00000416101.2_Silent_p.G402G|ABCA10_ENST00000432313.2_Silent_p.G402G	p.G402G	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			12	2115	-	Breast(10;6.95e-12)		402			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1206A>G	CCDS11684.1																																																																																				0.388	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	8	0	0	0	1	0	4	8				
DEF6	50619	broad.mit.edu	37	6	35278356	35278356	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:35278356C>T	ENST00000316637.5	+	3	363	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	120						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGATGCCTTCCGCCTCTGGTG	0.532																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(358-360)Cgc>Tgc		differentially expressed in FDCP 6 homolog (mouse)							180.0	155.0	164.0					6																	35278356		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35278356C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.358C>T	6.37:g.35278356C>T	ENSP00000319831:p.Arg120Cys					DEF6_ENST00000542066.1_5'UTR	p.R120C	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			3	363	+			120					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.358C>T	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985152|3.985152	0.74474|0.74474	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000444278|ENST00000394658;ENST00000316637	.|D	.|0.86366	.|-2.11	5.59|5.59	4.72|4.72	0.59763|0.59763	.|.	.|0.056142	.|0.64402	.|D	.|0.000001	D|D	0.85383|0.85383	0.5684|0.5684	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|P;P	.|0.56278	.|0.795;0.795	D|D	0.87223|0.87223	0.2255|0.2255	5|10	.|0.87932	.|D	.|0	-21.4381|-21.4381	9.5931|9.5931	0.39559|0.39559	0.1728:0.7521:0.0:0.075|0.1728:0.7521:0.0:0.075	.|.	.|120;120	.|B2RBP7;Q9H4E7	.|.;DEFI6_HUMAN	L|C	28|83;120	.|ENSP00000319831:R120C	.|ENSP00000319831:R120C	P|R	+|+	2|1	0|0	DEF6|DEF6	35386334|35386334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.793000|3.793000	0.55484|0.55484	1.360000|1.360000	0.45960|0.45960	-0.254000|-0.254000	0.11334|0.11334	CCG|CGC		0.532	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		34	54	0	0	0	1	0	34	54				
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)cGt>cAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253.0	218.0	230.0					4																	153249384		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249384C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His					FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	48	0	0	0	1	0	16	48				
MT-ND5	4540	broad.mit.edu	37	M	13269	13269	+	Silent	SNP	A	A	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrM:13269A>C	ENST00000361567.2	+	1	933	c.933A>C	c.(931-933)ggA>ggC	p.G311G	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	311					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AGTCAACTAGGACTCATAATA	0.463																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(931-933)ggA>ggC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13269A>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.933A>C	M.37:g.13269A>C							p.G311G			P03915	NU5M_HUMAN			1	933	+			311					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.933A>C																																																																																					0.463	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		206	6	0	0	0	1	0	206	6				
EPHB1	2047	broad.mit.edu	37	3	134670683	134670683	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:134670683C>A	ENST00000398015.3	+	3	964	c.594C>A	c.(592-594)agC>agA	p.S198R	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	198	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTGTCCCAGCATTGTGCAAA	0.483																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(592-594)agC>agA		EPH receptor B1							205.0	196.0	199.0					3																	134670683		1931	4139	6070	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670683C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.594C>A	3.37:g.134670683C>A	ENSP00000381097:p.Ser198Arg					EPHB1_ENST00000488154.1_Intron	p.S198R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	964	+			198			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.594C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449551	0.12223	.	.	ENSG00000154928	ENST00000398015	T	0.73681	-0.77	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	N	0.17723	0.515	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.70539	-0.4844	9	.	.	.	.	8.5999	0.33738	0.0:0.7695:0.0:0.2305	.	198	P54762	EPHB1_HUMAN	R	198	ENSP00000381097:S198R	.	S	+	3	2	EPHB1	136153373	0.813000	0.29090	1.000000	0.80357	0.998000	0.95712	-0.013000	0.12678	1.253000	0.44018	0.561000	0.74099	AGC		0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		71	77	1	0	4.83677e-39	1	5.18226e-39	71	77				
FRMPD1	22844	broad.mit.edu	37	9	37745609	37745609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:37745609C>T	ENST00000539465.1	+	16	4173	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q1194*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1194						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGGCTGCCAGGCTCAAGA	0.522																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3580-3582)Cag>Tag		FERM and PDZ domain containing 1							69.0	74.0	72.0					9																	37745609		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745609C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3580C>T	9.37:g.37745609C>T	ENSP00000444411:p.Gln1194*					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q1194*	p.Q1194*			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4173	+			1194					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.3580C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	42	9.605954	0.99217	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	4.96	4.05	0.47172	.	1.223500	0.05368	N	0.534954	.	.	.	.	.	.	0.21473	N	0.999671	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.8577	11.3244	0.49440	0.0:0.8158:0.1842:0.0	.	.	.	.	X	1194	.	ENSP00000366995:Q1194X	Q	+	1	0	FRMPD1	37735609	0.001000	0.12720	0.136000	0.22124	0.145000	0.21501	0.355000	0.20163	1.064000	0.40671	-0.305000	0.09177	CAG		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	66	0	0	0	1	0	22	66				
RECQL5	9400	broad.mit.edu	37	17	73661200	73661200	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:73661200G>A	ENST00000317905.5	-	3	342	c.183C>T	c.(181-183)tgC>tgT	p.C61C	RECQL5_ENST00000340830.5_Silent_p.C61C|RECQL5_ENST00000584999.1_Silent_p.C61C|RECQL5_ENST00000420326.2_Silent_p.C61C|SAP30BP_ENST00000584667.1_5'Flank|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000423245.2_Intron	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	61	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGAGCTGATAGCATAGGGATT	0.473								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(181-183)tgC>tgT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							197.0	174.0	181.0					17																	73661200		2203	4300	6503	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73661200G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.183C>T	17.37:g.73661200G>A						RECQL5_ENST00000340830.5_Silent_p.C61C|RECQL5_ENST00000423245.2_Intron|RECQL5_ENST00000584999.1_Silent_p.C61C|RECQL5_ENST00000317905.5_Silent_p.C61C	p.C61C	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		3	342	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		61			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.183C>T	CCDS42380.1																																																																																				0.473	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		84	95	0	0	0	1	0	84	95				
SPTBN1	6711	broad.mit.edu	37	2	54853210	54853210	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:54853210G>A	ENST00000356805.4	+	12	1764	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D482N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	495					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATTACCACGACATCAAGCG	0.577																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1444-1446)Gac>Aac		spectrin, beta, non-erythrocytic 1							117.0	113.0	114.0					2																	54853210		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54853210G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1483G>A	2.37:g.54853210G>A	ENSP00000349259:p.Asp495Asn					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D495N	p.D482N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1829	+			495					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1444G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854047	0.97030	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.48836	0.8;0.8;0.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.944;0.991	T	0.76686	-0.2868	10	0.87932	D	0	.	19.5969	0.95544	0.0:0.0:1.0:0.0	.	482;495	Q01082-3;Q01082	.;SPTB2_HUMAN	N	495;495;482	ENSP00000349259:D495N;ENSP00000374630:D495N;ENSP00000334156:D482N	ENSP00000334156:D482N	D	+	1	0	SPTBN1	54706714	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.802000	0.99131	2.634000	0.89283	0.650000	0.86243	GAC		0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			75	101	0	0	0	1	0	75	101				
PCDHA10	56139	broad.mit.edu	37	5	140237391	140237391	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:140237391G>A	ENST00000307360.5	+	1	1758	c.1758G>A	c.(1756-1758)gcG>gcA	p.A586A	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	586					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGTTGCGGGTCACGTGG	0.662																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1756-1758)gcG>gcA									91.0	86.0	88.0					5																	140237391		1322	2291	3613	SO:0001819	synonymous_variant	0							g.chr5:140237391G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1758G>A	5.37:g.140237391G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.A586A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1758	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1758G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		61	53	0	0	0	1	0	61	53				
HIST1H3E	8353	broad.mit.edu	37	6	26225539	26225539	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:26225539C>T	ENST00000360408.1	+	1	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	53					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627																																						ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(157-159)Cgt>Tgt		histone cluster 1, H3e							55.0	55.0	55.0					6																	26225539		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225539C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.157C>T	6.37:g.26225539C>T	ENSP00000353581:p.Arg53Cys						p.R53C	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	157	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	53					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.157C>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	12.33	1.904313	0.33628	.	.	ENSG00000196966	ENST00000360408	T	0.53857	0.6	4.54	3.66	0.41972	.	.	.	.	.	T	0.55878	0.1948	.	.	.	0.46564	D	0.9991	.	.	.	.	.	.	T	0.62982	-0.6738	6	0.66056	D	0.02	.	13.5699	0.61841	0.1562:0.8438:0.0:0.0	.	.	.	.	C	53	ENSP00000353581:R53C	ENSP00000353581:R53C	R	+	1	0	HIST1H3E	26333518	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	5.764000	0.68826	1.269000	0.44280	0.491000	0.48974	CGT		0.627	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		49	60	0	0	0	1	0	49	60				
PRICKLE3	4007	broad.mit.edu	37	X	49032106	49032106	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032106G>T	ENST00000376317.3	-	9	1858	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.F507L|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.F412L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.F520L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	588							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATGGGGAGTTGAAGGTCTCCA	0.592																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1762-1764)ttC>ttA		prickle homolog 3 (Drosophila)							80.0	74.0	76.0					X																	49032106		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032106G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1764C>A	X.37:g.49032106G>T	ENSP00000365494:p.Phe588Leu					PRICKLE3_ENST00000538114.1_Missense_Mutation_p.F412L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.F507L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.F520L	p.F588L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			9	1858	-			588					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1764C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.547|9.547	1.115012|1.115012	0.20795|0.20795	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382	T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.21|.	4.14|4.14	-1.09|-1.09	0.09904|0.09904	.|.	1.545990|.	0.04349|.	N|.	0.355367|.	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.24333|0.24333	-1.0163|-1.0163	10|5	0.31617|.	T|.	0.26|.	0.4894|0.4894	2.4967|2.4967	0.04623|0.04623	0.1255:0.4327:0.2757:0.166|0.1255:0.4327:0.2757:0.166	.|.	550;507;588|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	L|K	588;507;520;412|601	ENSP00000365494:F588L;ENSP00000441385:F507L;ENSP00000446051:F520L;ENSP00000441743:F412L|.	ENSP00000365494:F588L|.	F|Q	-|-	3|1	2|0	PRICKLE3|PRICKLE3	48919050|48919050	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.038000|0.038000	0.13862|0.13862	-0.108000|-0.108000	0.12066|0.12066	0.455000|0.455000	0.32223|0.32223	TTC|CAA		0.592	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		166	293	1	0	2.43961e-46	1	2.64536e-46	166	293				
UBXN1	51035	broad.mit.edu	37	11	62445085	62445085	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:62445085G>C	ENST00000301935.5	-	7	722	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	UBXN1_ENST00000524762.1_Intron|UBXN1_ENST00000533000.1_Missense_Mutation_p.Q44E|UBXN1_ENST00000294119.2_Missense_Mutation_p.Q186E|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q182E			Q04323	UBXN1_HUMAN	UBX domain protein 1	186	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GGGGGTGGCTGAGAGCCCACA	0.547																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(556-558)Cag>Gag		UBX domain protein 1							68.0	68.0	68.0					11																	62445085		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445085G>C		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.556C>G	11.37:g.62445085G>C	ENSP00000303991:p.Gln186Glu					UBXN1_ENST00000301935.5_Missense_Mutation_p.Q186E|UBXN1_ENST00000533000.1_Missense_Mutation_p.Q44E|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q182E|UBXN1_ENST00000524762.1_Intron	p.Q186E	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			7	687	-			186			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.556C>G		.	.	.	.	.	.	.	.	.	.	G	0.423	-0.907091	0.02434	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.21734	2.0;1.99;2.0;2.01	4.67	3.74	0.42951	.	0.860646	0.10874	N	0.624542	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.015;0.007;0.034	B;B;B	0.21708	0.002;0.006;0.036	T	0.19778	-1.0295	10	0.02654	T	1	-0.1097	10.8801	0.46933	0.0:0.1897:0.8103:0.0	.	182;186;186	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	E	186;186;44;89;182;186	ENSP00000294119:Q186E;ENSP00000303991:Q186E;ENSP00000435964:Q182E;ENSP00000435625:Q186E	ENSP00000294119:Q186E	Q	-	1	0	UBXN1	62201661	1.000000	0.71417	0.680000	0.29994	0.865000	0.49528	4.538000	0.60650	1.536000	0.49237	0.655000	0.94253	CAG		0.547	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		43	48	0	0	0	1	0	43	48				
HIST2H2AC	8338	broad.mit.edu	37	1	149858536	149858536	+	Silent	SNP	T	T	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858536T>G	ENST00000331380.2	+	1	12	c.12T>G	c.(10-12)cgT>cgG	p.R4R	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTCTGGTCGTGGCAAACAAG	0.547																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(10-12)cgT>cgG		histone cluster 2, H2ac							85.0	92.0	89.0					1																	149858536		2203	4300	6503	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858536T>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.12T>G	1.37:g.149858536T>G							p.R4R	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	12	+	Breast(34;0.0124)|all_hematologic(923;0.127)		4					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.12T>G	CCDS937.1																																																																																				0.547	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		39	80	0	0	0	1	0	39	80				
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	rs201509113	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6514-6516)Ggt>Agt		mucin 4, cell surface associated							12.0	15.0	14.0					3																	195511937		652	1533	2185	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511937C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6514G>A	3.37:g.195511937C>T	ENSP00000417498:p.Gly2172Ser					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S	p.G2172S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6973	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	951					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6514G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651958	0.14516	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.67	.	.	.	.	.	.	.	.	T	0.29976	0.0750	N	0.19112	0.55	0.09310	N	0.999998	D	0.56746	0.977	D	0.63488	0.915	T	0.11084	-1.0602	7	.	.	.	.	3.4513	0.07499	0.4478:0.552:1.0E-4:1.0E-4	.	2172	E7ESK3	.	S	2172	ENSP00000417498:G2172S;ENSP00000420243:G2172S	.	G	-	1	0	MUC4	196996332	0.229000	0.23729	0.002000	0.10522	0.068000	0.16541	1.016000	0.29976	0.488000	0.27723	0.064000	0.15345	GGT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	7	0	0	0	1	0	5	7				
PDIA3	2923	broad.mit.edu	37	15	44048891	44048891	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr15:44048891C>T	ENST00000300289.5	+	3	439	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PDIA3_ENST00000538521.1_Silent_p.V77V|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	97	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AATATGGAGTCAGTGGATATC	0.393																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(289-291)gtC>gtT		protein disulfide isomerase family A, member 3							154.0	150.0	152.0					15																	44048891		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44048891C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.291C>T	15.37:g.44048891C>T						PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_Silent_p.V77V	p.V97V	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	3	439	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	97			Thioredoxin 1.		Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.291C>T	CCDS10101.1																																																																																				0.393	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		22	36	0	0	0	1	0	22	36				
BAK1	578	broad.mit.edu	37	6	33541652	33541652	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:33541652G>A	ENST00000374467.3	-	6	812	c.564C>T	c.(562-564)atC>atT	p.I188I	BAK1_ENST00000442998.2_3'UTR|BAK1_ENST00000360661.5_Silent_p.I188I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	188					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCACGTTCAGGATGGGACCAT	0.567																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(562-564)atC>atT		BCL2-antagonist/killer 1							53.0	54.0	54.0					6																	33541652		2203	4300	6503	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33541652G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.564C>T	6.37:g.33541652G>A						BAK1_ENST00000360661.5_Silent_p.I188I|BAK1_ENST00000442998.2_3'UTR	p.I188I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			6	812	-			188					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.564C>T	CCDS4781.1																																																																																				0.567	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		31	29	0	0	0	1	0	31	29				
PHF7	51533	broad.mit.edu	37	3	52454935	52454935	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:52454935C>T	ENST00000327906.3	+	7	1090	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PHF7_ENST00000347025.2_Missense_Mutation_p.H144Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	144						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTGTGACAAACATCGCCCAAC	0.488																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(430-432)Cat>Tat		PHD finger protein 7							142.0	130.0	134.0					3																	52454935		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52454935C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.430C>T	3.37:g.52454935C>T	ENSP00000333024:p.His144Tyr					PHF7_ENST00000478707.1_Missense_Mutation_p.H144Y|PHF7_ENST00000347025.2_Missense_Mutation_p.H144Y	p.H144Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	7	1090	+			144					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.430C>T	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640653	0.67244	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	D;D;D	0.85861	-2.04;-2.04;-2.04	5.8	5.8	0.92144	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	M	0.91818	3.245	0.38529	D	0.948934	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.95375	0.8468	10	0.87932	D	0	-25.3509	15.5574	0.76208	0.0:1.0:0.0:0.0	.	144;144	A8K856;Q9BWX1	.;PHF7_HUMAN	Y	144;144;144;52	ENSP00000419316:H144Y;ENSP00000333024:H144Y;ENSP00000246282:H144Y	ENSP00000333024:H144Y	H	+	1	0	PHF7	52429975	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.545000	0.53648	2.741000	0.93983	0.561000	0.74099	CAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		46	10	0	0	0	1	0	46	10				
GINS2	51659	broad.mit.edu	37	16	85721095	85721095	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:85721095C>T	ENST00000253462.3	-	2	276	c.176G>A	c.(175-177)cGc>cAc	p.R59H	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	59					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGGGAGCAGGCGACATTTCTG	0.577																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(175-177)cGc>cAc		GINS complex subunit 2 (Psf2 homolog)							179.0	142.0	154.0					16																	85721095		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85721095C>T	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.176G>A	16.37:g.85721095C>T	ENSP00000253462:p.Arg59His						p.R59H	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			2	276	-			59					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.176G>A	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893416	0.52121	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.70108	2.13	0.80722	D	1	P;P	0.42584	0.784;0.784	B;B	0.22880	0.042;0.042	T	0.62258	-0.6892	9	0.51188	T	0.08	-27.3021	15.5358	0.76001	0.0:1.0:0.0:0.0	.	59;59	Q53G08;Q9Y248	.;PSF2_HUMAN	H	59	.	ENSP00000253462:R59H	R	-	2	0	GINS2	84278596	0.999000	0.42202	0.397000	0.26308	0.527000	0.34593	5.179000	0.65043	1.950000	0.56595	0.484000	0.47621	CGC		0.577	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		43	39	0	0	0	1	0	43	39				
NLGN1	22871	broad.mit.edu	37	3	173998971	173998971	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:173998971A>T	ENST00000457714.1	+	7	2779	c.2350A>T	c.(2350-2352)Att>Ttt	p.I784F	NLGN1_ENST00000545397.1_Missense_Mutation_p.I784F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I824F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	801					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATTACAATGATTCCCAACAC	0.493																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2350-2352)Att>Ttt		neuroligin 1							185.0	168.0	174.0					3																	173998971		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998971A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2350A>T	3.37:g.173998971A>T	ENSP00000392500:p.Ile784Phe					NLGN1_ENST00000401917.3_Missense_Mutation_p.I824F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784F|NLGN1_ENST00000545397.1_Missense_Mutation_p.I784F	p.I784F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2779	+	Ovarian(172;0.0025)		801					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2350A>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223470	0.58668	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.85926	0.1449	10	0.87932	D	0	.	16.0773	0.80976	1.0:0.0:0.0:0.0	.	784	Q8N2Q7-2	.	F	784;784;784;824	ENSP00000392500:I784F;ENSP00000354541:I784F;ENSP00000441108:I784F;ENSP00000385750:I824F	ENSP00000354541:I784F	I	+	1	0	NLGN1	175481665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.254000	0.74563	0.482000	0.46254	ATT		0.493	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		10	77	0	0	0	1	0	10	77				
KLHL1	57626	broad.mit.edu	37	13	70314570	70314570	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr13:70314570C>A	ENST00000377844.4	-	8	2517	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M393I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	586					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)		GAGCAATTGACATACTGGCTA	0.393																																						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.(1756-1758)atG>atT		kelch-like family member 1							99.0	87.0	91.0					13																	70314570		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314570C>A	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.1758G>T	13.37:g.70314570C>A	ENSP00000367075:p.Met586Ile					KLHL1_ENST00000545028.1_Missense_Mutation_p.M393I	p.M586I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2517	-		Breast(118;0.000162)	586					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1758G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731068	0.89390	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.84070	-1.8;-1.8	4.95	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	D	0.90700	0.7082	M	0.70842	2.15	0.54753	D	0.999986	D;D	0.89917	0.998;1.0	D;D	0.97110	0.987;1.0	D	0.91494	0.5214	10	0.66056	D	0.02	.	18.5348	0.91006	0.0:1.0:0.0:0.0	.	586;586	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	586;393	ENSP00000367075:M586I;ENSP00000439602:M393I	ENSP00000367075:M586I	M	-	3	0	KLHL1	69212571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.476000	0.83614	0.491000	0.48974	ATG		0.393	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		5	20	1	0	0.000602214	1	0.000602214	5	20				
CHD4	1108	broad.mit.edu	37	12	6700659	6700659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:6700659G>A	ENST00000357008.2	-	22	3476	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W	CHD4_ENST00000544040.1_Missense_Mutation_p.R1098W|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102W|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105W	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1105W(1)		central_nervous_system(2)	2						GCCTCTTGCCGCATGTTCCCA	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			1	Substitution - Missense(1)	p.R1105W(1)	large_intestine(1)	central_nervous_system(2)	2						c.(3313-3315)Cgg>Tgg		chromodomain helicase DNA binding protein 4							179.0	150.0	160.0					12																	6700659		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700659G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3313C>T	12.37:g.6700659G>A	ENSP00000349508:p.Arg1105Trp					CHD4_ENST00000544484.1_Missense_Mutation_p.R1102W|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105W|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098W	p.R1105W			Q14839	CHD4_HUMAN			22	3476	-			1105			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3313C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648870	0.87958	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	H	0.99951	5.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.992	D	0.99873	1.1099	10	0.87932	D	0	.	18.6317	0.91361	0.0:0.0:1.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1102;1098;1105;1105;1079	ENSP00000440392:R1102W;ENSP00000440542:R1098W;ENSP00000312419:R1105W;ENSP00000349508:R1105W	ENSP00000312419:R1105W	R	-	1	2	CHD4	6570920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.720000	0.68470	2.409000	0.81822	0.655000	0.94253	CGG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		31	37	0	0	0	1	0	31	37				
PCSK5	5125	broad.mit.edu	37	9	78790138	78790138	+	Intron	SNP	A	A	G	rs11999771	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:78790138A>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.K665E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatgaaatggaatgg	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1993-1995)Aaa>Gaa		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790138A>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+93A>G	9.37:g.78790138A>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.K665E			Q92824	PCSK5_HUMAN			14	2505	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1993A>G	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	6.519	0.463968	0.12402	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.59906	0.23	.	.	.	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.33828	-0.9853	6	0.62326	D	0.03	.	.	.	.	rs11999771	665	B1AMG5	.	E	665	ENSP00000365958:K665E	ENSP00000365958:K665E	K	+	1	0	PCSK5	77979958	0.001000	0.12720	0.042000	0.18584	0.045000	0.14185	-0.540000	0.06106	0.000000	0.14550	0.000000	0.15137	AAA		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	17	0	0	0	1	0	3	17				
PRICKLE3	4007	broad.mit.edu	37	X	49032095	49032095	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032095G>T	ENST00000376317.3	-	9	1869	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S511Y|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S416Y|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S524Y	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	592							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGCGATAAAGATGGGGAGTT	0.612																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1774-1776)tCt>tAt		prickle homolog 3 (Drosophila)							71.0	66.0	68.0					X																	49032095		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032095G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1775C>A	X.37:g.49032095G>T	ENSP00000365494:p.Ser592Tyr					PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S416Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S511Y|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S524Y	p.S592Y	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			9	1869	-			592					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1775C>A	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	10.26	1.301153	0.23650	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	T;T;T;T	0.70282	-0.44;-0.44;-0.45;-0.47	3.84	1.86	0.25419	.	0.647174	0.12864	N	0.432897	T	0.48642	0.1511	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20671	0.019;0.047;0.019	B;B;B	0.17433	0.011;0.018;0.011	T	0.42632	-0.9440	10	0.87932	D	0	-0.0423	3.5027	0.07679	0.1394:0.0:0.6126:0.248	.	554;511;592	B7Z6S4;B7Z8F2;O43900	.;.;PRIC3_HUMAN	Y	592;511;524;416	ENSP00000365494:S592Y;ENSP00000441385:S511Y;ENSP00000446051:S524Y;ENSP00000441743:S416Y	ENSP00000365494:S592Y	S	-	2	0	PRICKLE3	48919039	0.016000	0.18221	0.002000	0.10522	0.004000	0.04260	1.822000	0.39052	0.765000	0.33221	0.455000	0.32223	TCT		0.612	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		159	272	1	0	2.76239e-48	1	3.0319e-48	159	272				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	81	0	0	0	1	0	5	81				
ZNF572	137209	broad.mit.edu	37	8	125989122	125989122	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:125989122T>G	ENST00000319286.5	+	3	766	c.612T>G	c.(610-612)atT>atG	p.I204M		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCATCTTATTATCCATGAGA	0.473										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(610-612)atT>atG		zinc finger protein 572							81.0	84.0	83.0					8																	125989122		2203	4299	6502	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989122T>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.612T>G	8.37:g.125989122T>G	ENSP00000319305:p.Ile204Met	HNSCC(60;0.17)					p.I204M	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	766	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		204					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.612T>G	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308090	0.40895	.	.	ENSG00000180938	ENST00000319286	T	0.17213	2.29	5.19	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.132086	0.34555	N	0.003873	T	0.07234	0.0183	N	0.11023	0.085	0.09310	N	1	B	0.26002	0.139	B	0.28305	0.088	T	0.24190	-1.0167	10	0.56958	D	0.05	-4.4654	1.2555	0.01990	0.1458:0.1644:0.1512:0.5386	.	204	Q7Z3I7	ZN572_HUMAN	M	204	ENSP00000319305:I204M	ENSP00000319305:I204M	I	+	3	3	ZNF572	126058303	0.000000	0.05858	0.721000	0.30653	0.983000	0.72400	-1.626000	0.02035	0.073000	0.16731	0.533000	0.62120	ATT		0.473	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		9	92	0	0	0	1	0	9	92				
IL36G	56300	broad.mit.edu	37	2	113736846	113736846	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:113736846G>T	ENST00000259205.4	+	3	173	c.104G>T	c.(103-105)tGg>tTg	p.W35L	IL36G_ENST00000376489.2_Intron	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	35					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(103-105)tGg>tTg		interleukin 36, gamma							78.0	75.0	76.0					2																	113736846		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113736846G>T	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.104G>T	2.37:g.113736846G>T	ENSP00000259205:p.Trp35Leu					IL36G_ENST00000376489.2_Intron	p.W35L	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			3	173	+			35					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.104G>T	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504568	0.44558	.	.	ENSG00000136688	ENST00000447128;ENST00000259205	T;T	0.45668	0.89;0.89	5.09	3.15	0.36227	.	0.113850	0.40818	N	0.001010	T	0.29850	0.0746	L	0.38531	1.155	0.35523	D	0.801624	B	0.31351	0.32	B	0.37091	0.241	T	0.22347	-1.0219	10	0.02654	T	1	-12.4534	10.4094	0.44282	0.0:0.0:0.6493:0.3507	.	35	Q9NZH8	IL36G_HUMAN	L	35	ENSP00000411639:W35L;ENSP00000259205:W35L	ENSP00000259205:W35L	W	+	2	0	IL36G	113453317	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	2.481000	0.45215	1.325000	0.45301	0.655000	0.94253	TGG		0.448	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		18	33	1	0	8.34094e-07	1	8.43465e-07	18	33				
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1444-1446)Cgg>Tgg		G protein-coupled receptor 37 (endothelin receptor type B-like)							109.0	105.0	107.0					7																	124386977		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386977G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1444C>T	7.37:g.124386977G>A	ENSP00000306449:p.Arg482Trp						p.R482W	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2094	-			482					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1444C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047273	0.55110	.	.	ENSG00000170775	ENST00000303921	T	0.46451	0.87	5.62	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.52256	0.1723	L	0.32530	0.975	0.40585	D	0.981436	D	0.89917	1.0	D	0.77557	0.99	T	0.58515	-0.7623	10	0.87932	D	0	-23.3794	15.1042	0.72306	0.0:0.0:0.6227:0.3773	.	482	O15354	GPR37_HUMAN	W	482	ENSP00000306449:R482W	ENSP00000306449:R482W	R	-	1	2	GPR37	124174213	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.745000	0.47459	0.666000	0.31087	0.655000	0.94253	CGG		0.428	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		29	31	0	0	0	1	0	29	31				
KLHL4	56062	broad.mit.edu	37	X	86887422	86887422	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:86887422C>T	ENST00000373119.4	+	7	1682	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KLHL4_ENST00000373114.4_Missense_Mutation_p.R513W	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	513						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACACATCGGCACGGCTT	0.368																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1537-1539)Cgg>Tgg		kelch-like family member 4							88.0	77.0	81.0					X																	86887422		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887422C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1537C>T	X.37:g.86887422C>T	ENSP00000362211:p.Arg513Trp					KLHL4_ENST00000373114.4_Missense_Mutation_p.R513W	p.R513W	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1682	+			513					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1537C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722951	0.68959	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79653	-1.29;-1.29	5.33	2.86	0.33363	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93496	0.6840	10	0.87932	D	0	.	10.6306	0.45534	0.6243:0.3757:0.0:0.0	.	513;513	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	W	513	ENSP00000362211:R513W;ENSP00000362206:R513W	ENSP00000362206:R513W	R	+	1	2	KLHL4	86774078	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	3.507000	0.53371	0.673000	0.31224	0.513000	0.50165	CGG		0.368	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			6	18	0	0	0	1	0	6	18				
TELO2	9894	broad.mit.edu	37	16	1544439	1544439	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:1544439G>A	ENST00000262319.6	+	2	436	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	53					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAGAAGGAGGAGTTTGCCTC	0.647											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(157-159)Gag>Aag		telomere maintenance 2							128.0	127.0	127.0					16																	1544439		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1544439G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.157G>A	16.37:g.1544439G>A	ENSP00000262319:p.Glu53Lys		OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596		p.E53K	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			2	436	+		Hepatocellular(780;0.219)	53					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.157G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560881	0.86335	.	.	ENSG00000100726	ENST00000262319	D	0.88975	-2.45	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.72894	2.215	0.50171	D	0.999857	D	0.89917	1.0	D	0.83275	0.996	D	0.91434	0.5168	10	0.27785	T	0.31	-27.2066	13.9875	0.64345	0.0:0.0:1.0:0.0	.	53	Q9Y4R8	TELO2_HUMAN	K	53	ENSP00000262319:E53K	ENSP00000262319:E53K	E	+	1	0	TELO2	1484440	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.540000	0.67205	2.146000	0.66826	0.561000	0.74099	GAG		0.647	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		72	64	0	0	0	1	0	72	64				
INADL	10207	broad.mit.edu	37	1	62237128	62237128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:62237128C>T	ENST00000371158.2	+	6	664	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q184*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAAAATGATCAAATATTGGC	0.308																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(550-552)Caa>Taa		InaD-like (Drosophila)							96.0	88.0	91.0					1																	62237128		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62237128C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.550C>T	1.37:g.62237128C>T	ENSP00000360200:p.Gln184*					INADL_ENST00000316485.6_Nonsense_Mutation_p.Q184*	p.Q184*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			6	664	+			184			PDZ 1.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.550C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	38	6.703097	0.97776	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	4.67	4.67	0.58626	.	0.091784	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.5728	0.87940	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000255202:Q184X	Q	+	1	0	INADL	62009716	1.000000	0.71417	0.970000	0.41538	0.827000	0.46813	7.174000	0.77620	2.151000	0.67156	0.460000	0.39030	CAA		0.308	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	8	0	0	0	1	0	8	8				
TPCN2	219931	broad.mit.edu	37	11	68854003	68854003	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:68854003C>T	ENST00000294309.3	+	23	2117	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	672					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCCAAGATCTATTTTGTAT	0.547																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2014-2016)atC>atT		two pore segment channel 2							283.0	209.0	234.0					11																	68854003		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68854003C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2016C>T	11.37:g.68854003C>T						TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	p.I672I	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		23	2117	+			672					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.2016C>T	CCDS8189.1																																																																																				0.547	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		32	8	0	0	0	1	0	32	8				
SNX25	83891	broad.mit.edu	37	4	186263243	186263243	+	Silent	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:186263243T>C	ENST00000504273.1	+	12	1962	c.1668T>C	c.(1666-1668)ttT>ttC	p.F556F	SNX25_ENST00000264694.8_Silent_p.F556F|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	556	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCAGCGAGTTTCAGAATTTAC	0.413																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1666-1668)ttT>ttC		sorting nexin 25							134.0	136.0	135.0					4																	186263243		2203	4300	6503	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263243T>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1668T>C	4.37:g.186263243T>C						SNX25_ENST00000264694.8_Silent_p.F556F|SNX25_ENST00000512853.1_3'UTR	p.F556F			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1962	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	556			PX.		Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.1668T>C	CCDS34116.1																																																																																				0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		5	74	0	0	0	1	0	5	74				
XKRX	402415	broad.mit.edu	37	X	100169415	100169415	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:100169415T>A	ENST00000372956.2	-	3	1866	c.1262A>T	c.(1261-1263)cAt>cTt	p.H421L	XKRX_ENST00000328526.5_Missense_Mutation_p.H434L|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GCAGACACAATGGAGGTAGTC	0.458																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(1300-1302)cAt>cTt		XK, Kell blood group complex subunit-related, X-linked							169.0	148.0	155.0					X																	100169415		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169415T>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1262A>T	X.37:g.100169415T>A	ENSP00000362047:p.His421Leu					XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.H421L	p.H434L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			3	1866	-			421					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1301A>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854879	0.51376	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.63744	-0.06;-0.06	5.74	5.74	0.90152	.	0.249812	0.47455	D	0.000222	T	0.44582	0.1300	N	0.08118	0	0.41488	D	0.988207	P	0.48764	0.915	P	0.47603	0.551	T	0.41980	-0.9478	10	0.11485	T	0.65	-13.7063	11.0409	0.47831	0.0:0.0:0.153:0.847	.	421	Q6PP77	XKR2_HUMAN	L	434;421	ENSP00000327570:H434L;ENSP00000362047:H421L	ENSP00000327570:H434L	H	-	2	0	XKRX	100056071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.516000	0.35856	1.921000	0.55644	0.437000	0.28790	CAT		0.458	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		4	193	0	0	0	1	0	4	193				
CSMD3	114788	broad.mit.edu	37	8	113697868	113697868	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:113697868G>A	ENST00000297405.5	-	15	2493	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	CSMD3_ENST00000343508.3_Missense_Mutation_p.T710M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T646M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T750M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	750	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGATTATCGTCCAGATGCA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2248-2250)aCg>aTg		CUB and Sushi multiple domains 3							96.0	104.0	101.0					8																	113697868		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697868G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2249C>T	8.37:g.113697868G>A	ENSP00000297405:p.Thr750Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.T750M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T710M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T646M	p.T750M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2493	-			750			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2249C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841742	0.71488	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.72	5.72	0.89469	CUB (5);	0.169293	0.41001	D	0.000976	T	0.68924	0.3054	L	0.45352	1.415	0.32464	N	0.543758	P;D;D	0.71674	0.956;0.986;0.998	P;P;P	0.62435	0.491;0.791;0.902	T	0.71886	-0.4457	10	0.46703	T	0.11	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	646;750;710	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	710;750;90;646;750	ENSP00000345799:T710M;ENSP00000297405:T750M;ENSP00000341558:T90M;ENSP00000412263:T646M;ENSP00000343124:T750M	ENSP00000297405:T750M	T	-	2	0	CSMD3	113767044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.263000	0.72521	2.711000	0.92665	0.655000	0.94253	ACG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	45	0	0	0	1	0	36	45				
TNFRSF6B	8771	broad.mit.edu	37	20	62329741	62329741	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:62329741G>A	ENST00000369996.1	+	3	828	c.728G>A	c.(727-729)gGt>gAt	p.G243D	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	243					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GAGGGCTGGGGTCCGACACCA	0.706																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(727-729)gGt>gAt		tumor necrosis factor receptor superfamily, member 6b, decoy							9.0	10.0	9.0					20																	62329741		2048	4061	6109	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329741G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.728G>A	20.37:g.62329741G>A	ENSP00000359013:p.Gly243Asp					RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.G243D	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		3	828	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		243						Missense_Mutation	SNP	ENST00000369996.1	37	c.728G>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097402	0.20552	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.61392	0.11	3.81	-6.19	0.02078	.	.	.	.	.	T	0.31513	0.0799	L	0.29908	0.895	0.09310	N	1	B	0.33694	0.421	B	0.24701	0.055	T	0.13602	-1.0503	9	0.41790	T	0.15	2.3533	1.8071	0.03083	0.3065:0.1863:0.3875:0.1197	.	243	O95407	TNF6B_HUMAN	D	243	ENSP00000359013:G243D	ENSP00000359010:G243D	G	+	2	0	TNFRSF6B	61800185	0.010000	0.17322	0.000000	0.03702	0.054000	0.15201	0.807000	0.27140	-1.172000	0.02762	0.313000	0.20887	GGT		0.706	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			12	8	0	0	0	1	0	12	8				
PCLO	27445	broad.mit.edu	37	7	82579349	82579349	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:82579349G>C	ENST00000333891.9	-	6	10892	c.10555C>G	c.(10555-10557)Caa>Gaa	p.Q3519E	PCLO_ENST00000437081.1_Missense_Mutation_p.Q239E|PCLO_ENST00000423517.2_Missense_Mutation_p.Q3519E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTACCGTTTGAACTGCTATG	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10555-10557)Caa>Gaa		piccolo presynaptic cytomatrix protein							120.0	110.0	113.0					7																	82579349		1940	4140	6080	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579349G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10555C>G	7.37:g.82579349G>C	ENSP00000334319:p.Gln3519Glu					PCLO_ENST00000437081.1_Missense_Mutation_p.Q239E|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3519E	p.Q3519E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10892	-			3450						Missense_Mutation	SNP	ENST00000333891.9	37	c.10555C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343566	0.61073	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.52754	0.65;0.7;1.19	5.61	4.72	0.59763	.	.	.	.	.	T	0.50429	0.1615	M	0.75615	2.305	0.48762	D	0.999706	B;P;P	0.36683	0.022;0.565;0.565	B;B;B	0.33690	0.011;0.168;0.168	T	0.58567	-0.7614	9	0.87932	D	0	.	16.5798	0.84712	0.0:0.1305:0.8695:0.0	.	3450;3519;3519	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3450;3519;3519;239	ENSP00000334319:Q3519E;ENSP00000388393:Q3519E;ENSP00000393760:Q239E	ENSP00000334319:Q3519E	Q	-	1	0	PCLO	82417285	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	7.875000	0.87205	1.346000	0.45694	0.655000	0.94253	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	26	0	0	0	1	0	16	26				
ZNF333	84449	broad.mit.edu	37	19	14817512	14817512	+	Silent	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:14817512T>A	ENST00000292530.6	+	7	529	c.438T>A	c.(436-438)gcT>gcA	p.A146A	ZNF333_ENST00000536363.1_Silent_p.A37A|ZNF333_ENST00000601134.1_Missense_Mutation_p.Y87N|ZNF333_ENST00000540689.2_Silent_p.A146A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGAAGGCCGCTATGCAGATTC	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000601134.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(259-261)Tat>Aat		zinc finger protein 333							95.0	89.0	91.0					19																	14817512		2203	4300	6503	SO:0001819	synonymous_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14817512T>A		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.438T>A	19.37:g.14817512T>A						ZNF333_ENST00000540689.2_Silent_p.A146A|ZNF333_ENST00000536363.1_Silent_p.A37A|ZNF333_ENST00000292530.6_Silent_p.A146A	p.Y87N			Q96JL9	ZN333_HUMAN			5	377	+			0					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.259T>A	CCDS12316.1																																																																																				0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		38	7	0	0	0	1	0	38	7				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	82	0	0	0	1	0	4	82				
RPRD2	23248	broad.mit.edu	37	1	150443187	150443187	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:150443187A>G	ENST00000369068.4	+	11	1767	c.1763A>G	c.(1762-1764)aAa>aGa	p.K588R	RPRD2_ENST00000539519.1_Missense_Mutation_p.K562R|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.K562R	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	588	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTATTCCCAAAAGCTTCAAC	0.502																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1684-1686)aAa>aGa		regulation of nuclear pre-mRNA domain containing 2							69.0	64.0	66.0					1																	150443187		1853	4110	5963	SO:0001583	missense	23248						protein binding	g.chr1:150443187A>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1763A>G	1.37:g.150443187A>G	ENSP00000358064:p.Lys588Arg					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.K588R|RPRD2_ENST00000539519.1_Missense_Mutation_p.K562R	p.K562R			Q5VT52	RPRD2_HUMAN			10	1750	+			588			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1685A>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501030	0.64298	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.50001	0.77;0.78;0.76	5.1	5.1	0.69264	.	0.122764	0.56097	D	0.000039	T	0.22704	0.0548	N	0.24115	0.695	0.32546	N	0.533036	B;B;P	0.36909	0.437;0.437;0.573	B;B;B	0.36666	0.08;0.115;0.23	T	0.25328	-1.0135	10	0.62326	D	0.03	-10.5531	15.0556	0.71910	1.0:0.0:0.0:0.0	.	562;588;562	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	R	562;562;588	ENSP00000383785:K562R;ENSP00000445482:K562R;ENSP00000358064:K588R	ENSP00000358064:K588R	K	+	2	0	RPRD2	148709811	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	4.728000	0.62000	2.141000	0.66446	0.383000	0.25322	AAA		0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		14	28	0	0	0	1	0	14	28				
SALL3	27164	broad.mit.edu	37	18	76756943	76756943	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:76756943G>A	ENST00000537592.2	+	3	3524	c.3524G>A	c.(3523-3525)cGc>cAc	p.R1175H	SALL3_ENST00000575389.2_Missense_Mutation_p.R1103H|SALL3_ENST00000536229.3_Missense_Mutation_p.R970H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1175					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGGCCGCCGCCTGTCTGTG	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2908-2910)cGc>cAc		spalt-like transcription factor 3							27.0	30.0	29.0					18																	76756943		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756943G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3524G>A	18.37:g.76756943G>A	ENSP00000441823:p.Arg1175His					SALL3_ENST00000537592.2_Missense_Mutation_p.R1175H|SALL3_ENST00000575389.2_Missense_Mutation_p.R1103H	p.R970H			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3618	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1175					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2909G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888652	0.52014	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12361	2.69	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000028	T	0.45074	0.1324	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.54827	-0.8235	10	0.72032	D	0.01	-51.9687	18.2244	0.89913	0.0:0.0:1.0:0.0	.	835;1175	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1175;1103;835	ENSP00000441823:R1175H	ENSP00000299466:R1175H	R	+	2	0	SALL3	74857931	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.727000	0.98787	2.351000	0.79841	0.561000	0.74099	CGC		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	17	0	0	0	1	0	14	17				
LY6G5B	58496	broad.mit.edu	37	6	31639652	31639652	+	Missense_Mutation	SNP	C	C	T	rs563595765	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:31639652C>T	ENST00000375864.4	+	3	983	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	LY6G5B_ENST00000409525.1_Missense_Mutation_p.R12C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	67	UPAR/Ly6.					extracellular region (GO:0005576)				lung(4)	4						TGTCAAGGTTCGCTTCATCGT	0.507													c|||	2	0.000399361	0.0	0.0029	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.0					ENST00000375864.4																			0				lung(4)	4						c.(199-201)Cgc>Tgc		lymphocyte antigen 6 complex, locus G5B							185.0	153.0	165.0					6																	31639652		1511	2709	4220	SO:0001583	missense	58496					extracellular region		g.chr6:31639652C>T	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.199C>T	6.37:g.31639652C>T	ENSP00000365024:p.Arg67Cys					LY6G5B_ENST00000409525.1_Missense_Mutation_p.R12C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	p.R67C	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN			3	983	+			67			UPAR/Ly6.		B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	c.199C>T	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111271	0.37242	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.24151	1.87;1.87	4.44	1.38	0.22167	.	.	.	.	.	T	0.18002	0.0432	L	0.32530	0.975	.	.	.	D	0.89917	1.0	D	0.72338	0.977	T	0.08207	-1.0733	8	0.87932	D	0	-12.4942	2.693	0.05126	0.1897:0.523:0.1841:0.1031	.	67	Q8NDX9	LY65B_HUMAN	C	64;67;12	ENSP00000365024:R67C;ENSP00000386365:R12C	ENSP00000365024:R67C	R	+	1	0	LY6G5B	31747631	0.119000	0.22226	0.602000	0.28890	0.440000	0.31957	0.273000	0.18662	0.585000	0.29608	-0.215000	0.12644	CGC		0.507	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4			31	45	0	0	0	1	0	31	45				
TRPC1	7220	broad.mit.edu	37	3	142523431	142523431	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:142523431C>T	ENST00000476941.1	+	12	2599	c.2113C>T	c.(2113-2115)Cat>Tat	p.H705Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.H671Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	705					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTGCTCTCATACATCAAA	0.363																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(2011-2013)Cat>Tat		transient receptor potential cation channel, subfamily C, member 1							98.0	94.0	95.0					3																	142523431		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142523431C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2113C>T	3.37:g.142523431C>T	ENSP00000419313:p.His705Tyr					TRPC1_ENST00000476941.1_Missense_Mutation_p.H705Y	p.H671Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			11	2402	+			705					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2011C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527545	0.85706	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79845	-1.31;-1.31	4.83	4.83	0.62350	.	0.198269	0.52532	D	0.000064	D	0.82435	0.5036	L	0.43923	1.385	0.80722	D	1	P;P	0.45126	0.851;0.599	P;P	0.58391	0.838;0.503	T	0.76572	-0.2910	10	0.02654	T	1	-1.5063	18.2826	0.90103	0.0:1.0:0.0:0.0	.	705;671	P48995;P48995-2	TRPC1_HUMAN;.	Y	705;671	ENSP00000419313:H705Y;ENSP00000273482:H671Y	ENSP00000273482:H671Y	H	+	1	0	TRPC1	144006121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.375000	0.81037	0.650000	0.86243	CAT		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		11	60	0	0	0	1	0	11	60				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	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.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	35	0	0	0	1	0	3	35				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	39	0	0	0	1	0	4	39				
RP11-782C8.4	0	broad.mit.edu	37	1	143162350	143162350	+	lincRNA	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:143162350G>A	ENST00000424474.2	+	0	379				MIR3118-2_ENST00000582397.1_RNA|RP11-782C8.2_ENST00000412204.2_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							taaaacttcagaaaaggagtt	0.443																																						ENST00000412204.2																			0																																																			0							g.chr1:143162350G>A																													1.37:g.143162350G>A						RP11-782C8.4_ENST00000424474.2_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA								0	2503	-									RNA	SNP	ENST00000424474.2	37																																																																																						0.443	RP11-782C8.4-001	KNOWN	not_best_in_genome_evidence|basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000037573.2			5	3	0	0	0	1	0	5	3				
ASPRV1	151516	broad.mit.edu	37	2	70187809	70187809	+	Missense_Mutation	SNP	G	G	A	rs140244507	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:70187809G>A	ENST00000320256.4	-	1	1588	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTCCTGCCGCCCTTCTTCT	0.557													G|||	12	0.00239617	0.0008	0.0	5008	,	,		19529	0.0		0.0	False		,,,				2504	0.0112					ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(1012-1014)Cgg>Tgg		aspartic peptidase, retroviral-like 1		G	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	69.0	74.0	72.0		1012	-4.2	0.0	2	dbSNP_134	72	0,8600		0,0,4300	yes	missense	ASPRV1	NM_152792.2	101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	338/344	70187809	6,13000	2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187809G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.1012C>T	2.37:g.70187809G>A	ENSP00000315383:p.Arg338Trp						p.R338W	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1588	-			338						Missense_Mutation	SNP	ENST00000320256.4	37	c.1012C>T	CCDS1897.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.315	0.823031	0.16678	0.001362	0.0	ENSG00000244617	ENST00000320256	T	0.52295	0.67	2.26	-4.18	0.03846	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.30495	0.116	T	0.16512	-1.0400	9	0.62326	D	0.03	0.5109	3.4689	0.07559	0.1196:0.4992:0.2269:0.1543	.	338	Q53RT3	APRV1_HUMAN	W	338	ENSP00000315383:R338W	ENSP00000315383:R338W	R	-	1	2	ASPRV1	70041313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.248000	0.02890	-1.245000	0.02513	-0.126000	0.14955	CGG		0.557	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		34	49	0	0	0	1	0	34	49				
HOXC13	3229	broad.mit.edu	37	12	54333359	54333359	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:54333359G>C	ENST00000243056.3	+	1	825	c.669G>C	c.(667-669)tgG>tgC	p.W223C	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	223					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCAATGGCTGGGACAGTCAGG	0.682			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(667-669)tgG>tgC		homeobox C13							15.0	17.0	16.0					12																	54333359		2192	4283	6475	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54333359G>C		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.669G>C	12.37:g.54333359G>C	ENSP00000243056:p.Trp223Cys					HOXC-AS5_ENST00000512916.2_RNA	p.W223C	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN			1	825	+			223					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.669G>C	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561546	0.65538	.	.	ENSG00000123364	ENST00000243056	D	0.94232	-3.38	3.15	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	M	0.81682	2.555	0.80722	D	1	P	0.51653	0.947	P	0.60886	0.88	D	0.95881	0.8899	10	0.56958	D	0.05	.	14.2095	0.65755	0.0:0.0:1.0:0.0	.	223	P31276	HXC13_HUMAN	C	223	ENSP00000243056:W223C	ENSP00000243056:W223C	W	+	3	0	HOXC13	52619626	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.980000	0.93460	2.100000	0.63781	0.305000	0.20034	TGG		0.682	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			11	24	0	0	0	1	0	11	24				
HELB	92797	broad.mit.edu	37	12	66725099	66725099	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:66725099C>T	ENST00000247815.4	+	12	2895	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	946					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGAAAAACTCGTTTGAAACA	0.527																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2836-2838)Cgt>Tgt		helicase (DNA) B							53.0	55.0	54.0					12																	66725099		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725099C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2836C>T	12.37:g.66725099C>T	ENSP00000247815:p.Arg946Cys						p.R946C	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2895	+			946					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2836C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550574	0.65311	.	.	ENSG00000127311	ENST00000247815	T	0.13901	2.55	5.37	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.66939	2.045	0.39951	D	0.97454	D	0.89917	1.0	D	0.76071	0.987	T	0.03043	-1.1079	9	.	.	.	-19.4375	12.6488	0.56749	0.0:0.922:0.0:0.078	.	946	Q8NG08	HELB_HUMAN	C	946	ENSP00000247815:R946C	.	R	+	1	0	HELB	65011366	0.937000	0.31787	0.727000	0.30756	0.744000	0.42396	1.878000	0.39608	2.507000	0.84556	0.561000	0.74099	CGT		0.527	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			9	50	0	0	0	1	0	9	50				
HMCN1	83872	broad.mit.edu	37	1	186121933	186121933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:186121933C>T	ENST00000271588.4	+	96	15177	c.14948C>T	c.(14947-14949)tCt>tTt	p.S4983F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4983F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4983	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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)			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						TCCGATGGTTCTTTGCTGCTA	0.428																																						ENST00000271588.4																			0				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.(14947-14949)tCt>tTt		hemicentin 1							238.0	210.0	219.0					1																	186121933		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186121933C>T	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.14948C>T	1.37:g.186121933C>T	ENSP00000271588:p.Ser4983Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.S4983F	p.S4983F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			96	15177	+			4983			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14948C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037007	0.35893	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.31510	1.49;1.49	5.9	4.05	0.47172	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.313777	0.38217	N	0.001767	T	0.22282	0.0537	N	0.19112	0.55	0.09310	N	1	B	0.33826	0.427	B	0.39617	0.305	T	0.16867	-1.0388	10	0.18710	T	0.47	.	12.1051	0.53807	0.0:0.8635:0.0:0.1365	.	4983	Q96RW7	HMCN1_HUMAN	F	4983	ENSP00000271588:S4983F;ENSP00000356462:S4983F	ENSP00000271588:S4983F	S	+	2	0	HMCN1	184388556	0.630000	0.27155	0.228000	0.23943	0.644000	0.38419	2.557000	0.45871	0.842000	0.35045	0.650000	0.86243	TCT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	72	0	0	0	1	0	16	72				
CCDC132	55610	broad.mit.edu	37	7	92905543	92905543	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:92905543C>T	ENST00000305866.5	+	12	996	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	CCDC132_ENST00000251739.5_Missense_Mutation_p.L290F|CCDC132_ENST00000544910.1_Missense_Mutation_p.L260F|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_Missense_Mutation_p.L21F|CCDC132_ENST00000541136.1_Missense_Mutation_p.L101F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	290						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAGTTGTTCTTGGTTATGT	0.373																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(778-780)Ctt>Ttt		coiled-coil domain containing 132							197.0	174.0	182.0					7																	92905543		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92905543C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.868C>T	7.37:g.92905543C>T	ENSP00000307666:p.Leu290Phe					CCDC132_ENST00000305866.5_Missense_Mutation_p.L290F|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L290F|CCDC132_ENST00000541136.1_Missense_Mutation_p.L101F|CCDC132_ENST00000317751.6_Missense_Mutation_p.L21F	p.L260F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		13	998	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		290					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.778C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173510	0.57584	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	T;T;T	0.45276	1.56;1.56;0.9	5.45	5.45	0.79879	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.21448	0.665	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.479	D;D;B	0.79784	0.961;0.993;0.17	T	0.26815	-1.0092	10	0.10111	T	0.7	-12.1418	19.656	0.95842	0.0:1.0:0.0:0.0	.	260;290;290	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	F	290;290;260;101;21	ENSP00000251739:L290F;ENSP00000445766:L101F;ENSP00000325582:L21F	ENSP00000251739:L290F	L	+	1	0	CCDC132	92743479	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.978000	0.70501	2.717000	0.92951	0.650000	0.86243	CTT		0.373	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		23	42	0	0	0	1	0	23	42				
ZFHX3	463	broad.mit.edu	37	16	72992232	72992232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:72992232G>T	ENST00000268489.5	-	2	2485	c.1813C>A	c.(1813-1815)Cca>Aca	p.P605T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	605					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCATTTGGTTCTGGTGCT	0.602																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1813-1815)Cca>Aca		zinc finger homeobox 3							108.0	101.0	104.0					16																	72992232		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992232G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1813C>A	16.37:g.72992232G>T	ENSP00000268489:p.Pro605Thr					ZFHX3_ENST00000397992.5_Intron	p.P605T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2485	-		Ovarian(137;0.13)	605					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1813C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263923	0.39995	.	.	ENSG00000140836	ENST00000268489	T	0.76186	-1.0	5.04	5.04	0.67666	.	0.000000	0.49916	D	0.000135	T	0.77850	0.4192	L	0.58101	1.795	0.80722	D	1	P	0.45634	0.863	P	0.46758	0.526	T	0.81072	-0.1098	10	0.72032	D	0.01	.	18.7639	0.91864	0.0:0.0:1.0:0.0	.	605	Q15911	ZFHX3_HUMAN	T	605	ENSP00000268489:P605T	ENSP00000268489:P605T	P	-	1	0	ZFHX3	71549733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.358000	0.97109	2.505000	0.84491	0.650000	0.86243	CCA		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	41	1	0	2.32078e-09	1	2.37353e-09	15	41				
ZC3H18	124245	broad.mit.edu	37	16	88677691	88677691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:88677691C>T	ENST00000301011.5	+	8	1422	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R432*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	408						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgggagcgagagagaga	0.642																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1222-1224)Cga>Tga		zinc finger CCCH-type containing 18							13.0	16.0	15.0					16																	88677691		2030	4080	6110	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677691C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1222C>T	16.37:g.88677691C>T	ENSP00000301011:p.Arg408*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R432*	p.R408*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1422	+			408					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1222C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	c	40	8.062127	0.98635	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	4.64	2.59	0.31030	.	0.307811	0.30383	N	0.009742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-3.092	10.9962	0.47578	0.3394:0.6606:0.0:0.0	.	.	.	.	X	408;432;432;291	.	ENSP00000289509:R432X	R	+	1	2	ZC3H18	87205192	0.881000	0.30235	0.018000	0.16275	0.953000	0.61014	1.570000	0.36439	0.447000	0.26695	0.457000	0.33378	CGA		0.642	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		15	10	0	0	0	1	0	15	10				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			0							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T								NR_003678.1						0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	29	0	0	0	1	0	3	29				
MYT1L	23040	broad.mit.edu	37	2	1906908	1906908	+	Missense_Mutation	SNP	C	C	T	rs199822415		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:1906908C>T	ENST00000399161.2	-	14	2723	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	659					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCTATGGCTCGCTTGCCATA	0.488																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1975-1977)cGa>cAa		myelin transcription factor 1-like							151.0	146.0	147.0					2																	1906908		1940	4131	6071	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906908C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1976G>A	2.37:g.1906908C>T	ENSP00000382114:p.Arg659Gln					MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q	p.R659Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2723	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	659					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1976G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.445847	0.96187	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.60424	0.19;0.19	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.993	P;B	0.55087	0.768;0.423	T	0.74469	-0.3655	10	0.54805	T	0.06	-21.5981	19.4196	0.94715	0.0:1.0:0.0:0.0	.	659;657	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	659;605;657	ENSP00000382114:R659Q;ENSP00000396103:R657Q	ENSP00000295067:R605Q	R	-	2	0	MYT1L	1885915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.599000	0.87857	0.561000	0.74099	CGA		0.488	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	49	0	0	0	1	0	4	49				
EYA4	2070	broad.mit.edu	37	6	133834153	133834153	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:133834153A>G	ENST00000367895.5	+	16	1942	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	EYA4_ENST00000355286.6_Missense_Mutation_p.N470S|EYA4_ENST00000430974.2_Missense_Mutation_p.N445S|EYA4_ENST00000452339.2_Missense_Mutation_p.N439S|EYA4_ENST00000525849.1_Missense_Mutation_p.N470S|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.N499S|EYA4_ENST00000355167.3_Missense_Mutation_p.N493S|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.N493S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	493					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAATTATATAACACCTACAAG	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1477-1479)aAc>aGc		eyes absent homolog 4 (Drosophila)							79.0	82.0	81.0					6																	133834153		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133834153A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1478A>G	6.37:g.133834153A>G	ENSP00000356870:p.Asn493Ser					EYA4_ENST00000531901.1_Missense_Mutation_p.N499S|EYA4_ENST00000355286.6_Missense_Mutation_p.N470S|EYA4_ENST00000525849.1_Missense_Mutation_p.N470S|EYA4_ENST00000355167.3_Missense_Mutation_p.N493S|EYA4_ENST00000452339.2_Missense_Mutation_p.N439S|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.N493S|EYA4_ENST00000430974.2_Missense_Mutation_p.N445S	p.N493S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	16	1942	+	Colorectal(23;0.221)		493					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1478A>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335110	0.41398	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.55	5.55	0.83447	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.119551	0.85682	D	0.000000	T	0.61837	0.2379	L	0.29908	0.895	0.50313	D	0.999865	B;B;B;B;B;B	0.10296	0.001;0.001;0.002;0.002;0.003;0.001	B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.002;0.002	T	0.61850	-0.6978	10	0.46703	T	0.11	-19.2117	15.9945	0.80230	1.0:0.0:0.0:0.0	.	499;445;439;470;493;493	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	S	439;445;493;493;470;499;470;493	ENSP00000395916:N439S;ENSP00000388670:N445S;ENSP00000356870:N493S;ENSP00000347294:N493S;ENSP00000347434:N470S;ENSP00000432770:N499S;ENSP00000433219:N470S;ENSP00000404558:N493S	ENSP00000347294:N493S	N	+	2	0	EYA4	133875846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.232000	0.73038	0.528000	0.53228	AAC		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		16	20	0	0	0	1	0	16	20				
HEPHL1	341208	broad.mit.edu	37	11	93800731	93800731	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:93800731A>T	ENST00000315765.9	+	5	886	c.878A>T	c.(877-879)cAc>cTc	p.H293L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	293	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTCCTGGCACCTATTTGGA	0.468																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(877-879)cAc>cTc		hephaestin-like 1							164.0	165.0	165.0					11																	93800731		1939	4126	6065	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800731A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.878A>T	11.37:g.93800731A>T	ENSP00000313699:p.His293Leu						p.H293L	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	886	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	293			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.878A>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726026	0.89298	.	.	ENSG00000181333	ENST00000315765	D	0.99797	-6.79	5.36	5.36	0.76844	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.78285	2.405	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	D	0.97354	0.9965	10	0.72032	D	0.01	.	15.6458	0.77049	1.0:0.0:0.0:0.0	.	293	Q6MZM0	HPHL1_HUMAN	L	293	ENSP00000313699:H293L	ENSP00000313699:H293L	H	+	2	0	HEPHL1	93440379	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.991000	0.93514	2.158000	0.67659	0.459000	0.35465	CAC		0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		53	11	0	0	0	1	0	53	11				
LDB2	9079	broad.mit.edu	37	4	16900019	16900019	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:16900019G>A	ENST00000304523.5	-	1	413	c.90C>T	c.(88-90)taC>taT	p.Y30Y	LDB2_ENST00000515064.1_Silent_p.Y30Y|LDB2_ENST00000502640.1_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	30					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATAGATTCGGTACTCTGGCT	0.453																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(88-90)taC>taT		LIM domain binding 2							204.0	180.0	188.0					4																	16900019		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900019G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.90C>T	4.37:g.16900019G>A						LDB2_ENST00000304523.5_Silent_p.Y30Y|LDB2_ENST00000515064.1_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y	p.Y30Y			O43679	LDB2_HUMAN			1	238	-			30					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.90C>T	CCDS3420.1																																																																																				0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			5	35	0	0	0	1	0	5	35				
PRICKLE3	4007	broad.mit.edu	37	X	49033341	49033341	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49033341G>T	ENST00000376317.3	-	8	1260	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A308D|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A321D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	389				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCAAGTGGGGCTGTGACAGG	0.647																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1165-1167)gCc>gAc		prickle homolog 3 (Drosophila)							29.0	24.0	26.0					X																	49033341		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49033341G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1166C>A	X.37:g.49033341G>T	ENSP00000365494:p.Ala389Asp					PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A308D|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A321D	p.A389D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			8	1260	-			389	Missing (in Ref. 5; AAB92357).				B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1166C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.502|8.502	0.864517|0.864517	0.17250|0.17250	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849|ENST00000453382	T;T;T|.	0.69175|.	-0.38;-0.38;-0.38|.	4.56|4.56	2.77|2.77	0.32553|0.32553	.|.	0.882556|.	0.09420|.	N|.	0.804561|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.33413|.	0.411;0.001;0.309|.	B;B;B|.	0.32465|.	0.146;0.004;0.107|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|5	0.31617|.	T|.	0.26|.	-13.6595|-13.6595	5.6315|5.6315	0.17514|0.17514	0.2479:0.0:0.7521:0.0|0.2479:0.0:0.7521:0.0	.|.	351;308;389|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	D|R	389;308;321|401	ENSP00000365494:A389D;ENSP00000441385:A308D;ENSP00000446051:A321D|.	ENSP00000365494:A389D|.	A|S	-|-	2|3	0|2	PRICKLE3|PRICKLE3	48920285|48920285	0.305000|0.305000	0.24481|0.24481	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	3.476000|3.476000	0.53143|0.53143	1.049000|1.049000	0.40321|0.40321	0.425000|0.425000	0.28330|0.28330	GCC|AGC		0.647	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		54	76	1	0	5.82388e-19	1	6.02471e-19	54	76				
PTPRG	5793	broad.mit.edu	37	3	62259445	62259445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:62259445C>T	ENST00000474889.1	+	23	3768	c.3391C>T	c.(3391-3393)Cag>Tag	p.Q1131*	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q1102*|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1131					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCTTCAAATCAGCTGCACAG	0.413																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3391-3393)Cag>Tag		protein tyrosine phosphatase, receptor type, G							161.0	151.0	154.0					3																	62259445		2203	4300	6503	SO:0001587	stop_gained	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62259445C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3391C>T	3.37:g.62259445C>T	ENSP00000418112:p.Gln1131*					PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q1102*|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	p.Q1131*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	23	3768	+			1131					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	ENST00000474889.1	37	c.3391C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	46	12.154864	0.99641	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	.	.	.	X	1131;1102	.	ENSP00000295874:Q1102X	Q	+	1	0	PTPRG	62234485	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.970000	0.70431	2.879000	0.98667	0.650000	0.86243	CAG		0.413	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		27	9	0	0	0	1	0	27	9				
TMEM132E	124842	broad.mit.edu	37	17	32964455	32964455	+	Missense_Mutation	SNP	G	G	A	rs374583943		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:32964455G>A	ENST00000321639.5	+	10	2487	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	720						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGGGCCTGCGGGTGCACTTT	0.682																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2158-2160)cGg>cAg		transmembrane protein 132E							32.0	37.0	36.0					17																	32964455		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964455G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2159G>A	17.37:g.32964455G>A	ENSP00000316532:p.Arg720Gln						p.R720Q	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2487	+			720					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2159G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709738	0.48517	.	.	ENSG00000181291	ENST00000321639	T	0.17528	2.27	4.65	4.65	0.58169	.	0.118609	0.56097	D	0.000033	T	0.09774	0.0240	N	0.19112	0.55	0.27831	N	0.941431	B	0.28470	0.213	B	0.19148	0.024	T	0.15292	-1.0442	10	0.27785	T	0.31	-29.9189	9.963	0.41708	0.0933:0.0:0.9067:0.0	.	720	Q6IEE7	T132E_HUMAN	Q	720	ENSP00000316532:R720Q	ENSP00000316532:R720Q	R	+	2	0	TMEM132E	29988568	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	2.572000	0.45999	2.412000	0.81896	0.549000	0.68633	CGG		0.682	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		33	5	0	0	0	1	0	33	5				
LSG1	55341	broad.mit.edu	37	3	194386954	194386954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:194386954C>G	ENST00000265245.5	-	4	726	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	138					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CGTCTCCATTCTAGAAAGTTA	0.373																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(412-414)Gaa>Caa		large 60S subunit nuclear export GTPase 1							126.0	117.0	120.0					3																	194386954		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194386954C>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.412G>C	3.37:g.194386954C>G	ENSP00000265245:p.Glu138Gln						p.E138Q	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	4	726	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		138					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.412G>C	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083777	0.36758	.	.	ENSG00000041802	ENST00000265245	T	0.48522	0.81	5.78	3.76	0.43208	.	0.362209	0.30752	N	0.008945	T	0.38241	0.1033	L	0.42581	1.335	0.29818	N	0.831096	B	0.22346	0.068	B	0.31245	0.126	T	0.33803	-0.9854	10	0.38643	T	0.18	.	5.7247	0.18006	0.0:0.4966:0.3805:0.1229	.	138	Q9H089	LSG1_HUMAN	Q	138	ENSP00000265245:E138Q	ENSP00000265245:E138Q	E	-	1	0	LSG1	195868243	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.340000	0.33896	1.263000	0.44181	0.655000	0.94253	GAA		0.373	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		13	36	0	0	0	1	0	13	36				
LOC339529	339529	broad.mit.edu	37	1	244085038	244085038	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:244085038delG	ENST00000440494.1	+	0	125					NR_033883.1																						GTCTTGTGATGGGAGCAGAAA	0.403																																						ENST00000440494.1																			0																																																			0							g.chr1:244085038delG																													1.37:g.244085038delG								NR_033883.1						0	125	+									RNA	DEL	ENST00000440494.1	37																																																																																						0.403	RP11-278H7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096514.1			2	4						2	4	---	---	---	---
PRSS50	29122	broad.mit.edu	37	3	46759228	46759229	+	In_Frame_Ins	INS	-	-	AGC	rs371656552|rs143449678		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:46759228_46759229insAGC	ENST00000460241.1	-	6	1756_1757	c.86_87insGCT	c.(85-87)ctt>ctGCTt	p.29_29L>LL	PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29L>LL			Q9UI38	TSP50_HUMAN	protease, serine, 50	29					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.L32_R33insL(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCAACAGAAGCAGCAGCAG	0.728																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Insertion - In frame(1)	p.L32_R33insL(1)	upper_aerodigestive_tract(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(85-87)cct>cGCTct		protease, serine, 50																																				SO:0001652	inframe_insertion	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759228_46759229insAGC	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.84_86dupGCT	3.37:g.46759235_46759237dupAGC	ENSP00000418875:p.Leu32dup					PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS	p.29_29P>RS			Q9UI38	TSP50_HUMAN			6	1756_1757	-			29						In_Frame_Ins	INS	ENST00000460241.1	37	c.86_87insGCT	CCDS2745.1																																																																																				0.728	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			7	3						7	3	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154237041	154237042	+	In_Frame_Ins	INS	-	-	GGCAGCTGC			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:154237041_154237042insGGCAGCTGC	ENST00000437508.2	+	8	1792_1793	c.1591_1592insGGCAGCTGC	c.(1591-1593)ggg>gGGCAGCTGCgg	p.531_532insQLR	TRIM2_ENST00000338700.5_In_Frame_Ins_p.558_559insQLR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	531					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACGCTCTCCGGGGCAGCTGCAG	0.47																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1672-1674)gca>GGCAGCTGCgca		tripartite motif containing 2																																				SO:0001652	inframe_insertion	23321					cytoplasm	zinc ion binding	g.chr4:154237041_154237042insGGCAGCTGC	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1592_1600dupGGCAGCTGC	4.37:g.154237042_154237050dupGGCAGCTGC	ENSP00000415812:p.Gly531_Gln532insGlnLeuArg					TRIM2_ENST00000437508.2_In_Frame_Ins_p.530_531insGSC	p.557_558insGSC	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	8	1737_1738	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	530					D3DP09|O60272|Q9BSI9|Q9UFZ1	In_Frame_Ins	INS	ENST00000437508.2	37	c.1672_1673insGGCAGCTGC	CCDS47147.1																																																																																				0.470	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			11	49						11	49	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67592085	67592086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67592085_67592086insT	ENST00000521381.1	+	15	2517_2518	c.1901_1902insT	c.(1900-1905)gctgaafs	p.E635fs	PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.E335fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.E635fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.E643fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.E272fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.E635fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.E365fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	635	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAAACAAAGCTGAAAACCTGT	0.485			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1900-1902)ggafs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592085_67592086insT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1902dupT	5.37:g.67592086_67592086dupT	ENSP00000428056:p.Glu635fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G634fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G334fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G271fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G642fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G364fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G634fs	p.G634fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2517_2518	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	634			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.1901_1902insT	CCDS3993.1																																																																																				0.485	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		45	40						45	40	---	---	---	---
CNOT6	57472	broad.mit.edu	37	5	179998267	179998268	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:179998267_179998268delAA	ENST00000393356.1	+	13	1720_1721	c.1296_1297delAA	c.(1294-1299)acaaatfs	p.N433fs	CNOT6_ENST00000261951.4_Frame_Shift_Del_p.N433fs			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	433	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAGTAGAAACAAATCACAAAGA	0.332																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1294-1299)acatfs		CCR4-NOT transcription complex, subunit 6																																				SO:0001589	frameshift_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179998267_179998268delAA	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1296_1297delAA	5.37:g.179998267_179998268delAA	ENSP00000377024:p.Asn433fs					CNOT6_ENST00000261951.4_Frame_Shift_Del_p.TN432fs	p.TN432fs			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	13	1720_1721	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	432					A7MD46|D3DWR0	Frame_Shift_Del	DEL	ENST00000393356.1	37	c.1296_1297delAA	CCDS4455.1																																																																																				0.332	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		25	23						25	23	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66458156	66458157	+	lincRNA	INS	-	-	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:66458156_66458157insG	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							cctacggtaccgctattaccag	0.624																																						ENST00000424345.1																			0																																																			0							g.chr9:66458156_66458157insG																													9.37:g.66458157_66458157dupG						RNA5SP283_ENST00000365604.1_RNA								0	67	+									RNA	INS	ENST00000424345.1	37																																																																																						0.624	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			5	7						5	7	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19756993	19756993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:19756993delG	ENST00000269216.3	+	3	1490	c.1213delG	c.(1213-1215)ggcfs	p.G405fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G405fs|RP11-627G18.2_ENST00000578504.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	405					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCGGCGGGACGGCACCGGCCA	0.682																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1213-1215)gcfs		GATA binding protein 6							6.0	7.0	6.0					18																	19756993		1910	3860	5770	SO:0001589	frameshift_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19756993delG	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1213delG	18.37:g.19756993delG	ENSP00000269216:p.Gly405fs					GATA6_ENST00000581694.1_Frame_Shift_Del_p.G405fs	p.G405fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		3	1490	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		405					B0YJ17|P78327	Frame_Shift_Del	DEL	ENST00000269216.3	37	c.1213delG	CCDS11872.1																																																																																				0.682	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29589297	29589297	+	RNA	DEL	C	C	-	rs73620372|rs77299581		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:29589297delC	ENST00000432067.1	-	0	152																											cttagcacttcttttgctgca	0.299																																						ENST00000432067.1																			0																																																			0							g.chr20:29589297delC																													20.37:g.29589297delC														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.299	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11056763	11056763	+	RNA	DEL	T	T	-	rs2838178|rs111350938	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr21:11056763delT	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTGAGTAATAAAATGTTCC	0.299																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11056763delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11056763delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.299	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11068974	11068974	+	RNA	DEL	T	T	-	rs143636779		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr21:11068974delT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caagcaaagattttttaataa	0.279																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11068974delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11068974delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.279	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11071214	11071215	+	RNA	INS	-	-	C	rs113940337|rs10154153	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr21:11071214_11071215insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagaccaattagggcttcagg	0.406																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11071214_11071215insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11071214_11071215insC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.406	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11079770	11079771	+	RNA	DEL	TG	TG	-	rs59270546		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr21:11079770_11079771delTG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAAAACACTGTGCAGATGTA	0.406																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11079770_11079771delTG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11079772_11079773delTG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.406	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	5						5	5	---	---	---	---
