#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
UBR4	23352	broad.mit.edu	37	1	19504071	19504071	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:19504071T>C	ENST00000375254.3	-	19	2548	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	UBR4_ENST00000375217.2_Missense_Mutation_p.S841G|UBR4_ENST00000375267.2_Missense_Mutation_p.S841G|UBR4_ENST00000375226.2_Missense_Mutation_p.S841G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	841					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTTGACGCTCAACTCCTGG	0.507																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2521-2523)Agc>Ggc		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							129.0	120.0	123.0					1																	19504071		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19504071T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2521A>G	1.37:g.19504071T>C	ENSP00000364403:p.Ser841Gly					UBR4_uc001bbm.1_Missense_Mutation_p.S52G	p.S841G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	18	2525	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	841					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2521A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839795	0.51057	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.73	5.73	0.89815	.	0.106709	0.64402	D	0.000006	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.12142	-1.0559	10	0.72032	D	0.01	.	6.169	0.20406	0.144:0.0758:0.0:0.7802	.	841	Q5T4S7	UBR4_HUMAN	G	841;841;841;841;57	ENSP00000364403:S841G;ENSP00000364416:S841G;ENSP00000364365:S841G;ENSP00000364374:S841G	ENSP00000364365:S841G	S	-	1	0	UBR4	19376658	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	4.287000	0.59001	2.190000	0.69967	0.533000	0.62120	AGC		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
ZFP69B	65243	broad.mit.edu	37	1	40919923	40919923	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:40919923G>T	ENST00000411995.2	+	3	551	c.176G>T	c.(175-177)aGt>aTt	p.S59I	ZFP69B_ENST00000484445.1_Intron|ZFP69B_ENST00000361584.3_Intron	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	59					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)										AGTTTAGAGAGTAGAGTGACC	0.493																																						uc001cfn.2																			0				large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(175-177)aGt>aTt		Homo sapiens zinc finger protein 643 (ZNF643), mRNA.																																				SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40919923G>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.176G>T	1.37:g.40919923G>T	ENSP00000399664:p.Ser59Ile					ZNF643_uc001cfl.2_Intron|ZNF643_uc001cfm.2_5'UTR	p.S59I	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		1	473	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	59					Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.176G>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	G	7.730	0.699028	0.15106	.	.	ENSG00000187801	ENST00000411995	T	0.05382	3.45	3.4	-0.473	0.12112	.	.	.	.	.	T	0.01976	0.0062	N	0.01874	-0.695	0.09310	N	0.999999	B	0.18610	0.029	B	0.11329	0.006	T	0.44081	-0.9351	9	0.41790	T	0.15	.	0.5412	0.00645	0.4413:0.2175:0.1302:0.2111	.	59	Q9UJL9	ZN643_HUMAN	I	59	ENSP00000399664:S59I	ENSP00000399664:S59I	S	+	2	0	ZNF643	40692510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.044000	0.13992	-0.093000	0.12396	-0.350000	0.07774	AGT		0.493	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
HRNR	388697	broad.mit.edu	37	1	152192865	152192865	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152192865C>T	ENST00000368801.2	-	3	1315	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	414					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGGCCGCGGCCTGAA	0.632																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1240-1242)Ggc>Agc		Homo sapiens hornerin (HRNR), mRNA.							88.0	83.0	85.0					1																	152192865		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192865C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1240G>A	1.37:g.152192865C>T	ENSP00000357791:p.Gly414Ser						p.G414S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1316	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		414					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1240G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093238	0.20471	.	.	ENSG00000197915	ENST00000368801	T	0.05081	3.5	3.59	-0.74	0.11115	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	P	0.39181	0.663	B	0.24974	0.057	T	0.45249	-0.9274	9	0.08837	T	0.75	.	7.824	0.29305	0.0:0.6249:0.0:0.3751	.	414	Q86YZ3	HORN_HUMAN	S	414	ENSP00000357791:G414S	ENSP00000357791:G414S	G	-	1	0	HRNR	150459489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-0.404000	0.07610	0.644000	0.83932	GGC		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	broad.mit.edu	37	1	152283171	152283171	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152283171G>C	ENST00000368799.1	-	3	4226	c.4191C>G	c.(4189-4191)aaC>aaG	p.N1397K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1397	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTTAGTGACCT	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4189-4191)aaC>aaG		Homo sapiens filaggrin (FLG), mRNA.							330.0	314.0	319.0					1																	152283171		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283171G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4191C>G	1.37:g.152283171G>C	ENSP00000357789:p.Asn1397Lys					AK056431_uc001ezv.3_5'Flank	p.N1397K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4227	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1397			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4191C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.456	0.084465	0.08583	.	.	ENSG00000143631	ENST00000368799	T	0.03524	3.9	4.2	-1.35	0.09114	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45848	-0.9233	9	0.15499	T	0.54	.	1.6489	0.02767	0.1839:0.3024:0.3585:0.1552	.	1397	P20930	FILA_HUMAN	K	1397	ENSP00000357789:N1397K	ENSP00000357789:N1397K	N	-	3	2	FLG	150549795	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.774000	0.04684	-0.335000	0.08451	-1.102000	0.02115	AAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A	rs551622346		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152777634G>A	ENST00000607093.1	-	1	320	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_ENST00000368768.1_Silent_p.G107G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662																																						uc021ozi.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(319-321)ggC>ggT		Homo sapiens late cornified envelope 1C (LCE1C), mRNA.																																				SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777634G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.321C>T	1.37:g.152777634G>A						LCE1C_uc001fap.1_Silent_p.G107G	p.G107G	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	321	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.321C>T	CCDS1026.1																																																																																				0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351	
OR10R2	343406	broad.mit.edu	37	1	158449884	158449884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:158449884delA	ENST00000368152.1	+	1	217	c.217delA	c.(217-219)aaafs	p.K73fs	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACCTGGATAAAAGCCTCCA	0.418																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(217-219)aaafs		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							239.0	206.0	217.0					1																	158449884		2203	4300	6503	SO:0001589	frameshift_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449884delA	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.217delA	1.37:g.158449884delA	ENSP00000357134:p.Lys73fs					AK057554_uc001fso.1_Non-coding_Transcript	p.K73fs	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	217	+	all_hematologic(112;0.0378)		73					Q5VWM8|Q6IFS1|Q96R61	Frame_Shift_Del	DEL	ENST00000368152.1	37	c.217delA	CCDS30898.1																																																																																				0.418	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	
SHOC2	8036	broad.mit.edu	37	10	112696573	112696573	+	Intron	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:112696573T>C	ENST00000369452.4	+	1	111				SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.H140R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTGAGCCAGGTGCCCCAGATA	0.537																																						uc010qrh.1																			2	Substitution - Missense(2)	p.H140R(2)	prostate(1)|kidney(1)								c.(418-420)cAc>cGc		Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.																																				SO:0001627	intron_variant	644511							g.chr10:112696573T>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17158T>C	10.37:g.112696573T>C						SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron	p.H140R							0	441	-								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.419A>G	CCDS7568.1																																																																																				0.537	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
DMBT1	1755	broad.mit.edu	37	10	124376759	124376759	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:124376759C>G	ENST00000338354.3	+	37	4593	c.4487C>G	c.(4486-4488)tCt>tGt	p.S1496C	DMBT1_ENST00000368909.3_Missense_Mutation_p.S1496C|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1486C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1486C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S868C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S347C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S868C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1496					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCAACCTCTCGTGCATCA	0.448																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4486-4488)tCt>tGt		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							394.0	381.0	385.0					10																	124376759		1900	4124	6024	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124376759C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4487C>G	10.37:g.124376759C>G	ENSP00000342210:p.Ser1496Cys					DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc021qaf.1_Missense_Mutation_p.S1496C|DMBT1_uc021qag.1_Missense_Mutation_p.S1486C|DMBT1_uc021qah.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	p.S1496C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			36	4593	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1496					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4487C>G		.	.	.	.	.	.	.	.	.	.	-	8.112	0.779052	0.16120	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.26373	1.83;1.82;1.74;1.83;1.82;1.74;1.77	1.48	0.506	0.16961	.	.	.	.	.	T	0.28928	0.0718	N	0.19112	0.55	0.09310	N	1	P;D;D;B;P;D	0.71674	0.804;0.998;0.994;0.335;0.574;0.979	B;D;D;B;B;P	0.71414	0.102;0.947;0.973;0.084;0.102;0.827	T	0.12218	-1.0556	9	0.66056	D	0.02	.	5.5618	0.17148	0.0:0.6477:0.3523:0.0	.	347;745;1625;868;1486;1496	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	1496;1625;1496;1496;1496;1496;868;1486;868;868;1496;1486;868;347	ENSP00000342210:S1496C;ENSP00000343175:S1486C;ENSP00000327747:S868C;ENSP00000357905:S1496C;ENSP00000357951:S1486C;ENSP00000357952:S868C;ENSP00000352593:S347C	ENSP00000331522:S868C	S	+	2	0	DMBT1	124366749	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.284000	0.08422	0.196000	0.20367	0.461000	0.40582	TCT		0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
CKAP5	9793	broad.mit.edu	37	11	46783673	46783673	+	Silent	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:46783673T>C	ENST00000529230.1	-	32	4144	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	CKAP5_ENST00000354558.3_Silent_p.K1366K|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.K1366K|CKAP5_ENST00000312055.5_Silent_p.K1366K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1366					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTTAAGGCTTTTCCTGGGG	0.478																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.2																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4096-4098)aaA>aaG		Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.							111.0	94.0	99.0					11																	46783673		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46783673T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4098A>G	11.37:g.46783673T>C						CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.2_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	p.K1366K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			31	4224	-			1366					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.4098A>G	CCDS31477.1																																																																																				0.478	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
OR8K3	219473	broad.mit.edu	37	11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:56085805C>T	ENST00000312711.1	+	1	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413																																						uc010rjf.2																			0		p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(22-24)aCg>aTg		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							123.0	113.0	116.0					11																	56085805		2201	4295	6496	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085805C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.23C>T	11.37:g.56085805C>T	ENSP00000323555:p.Thr8Met						p.T8M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	23	+	Esophageal squamous(21;0.00448)		8					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.23C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846388	0.16963	.	.	ENSG00000181689	ENST00000312711	T	0.19806	2.12	5.36	0.949	0.19566	.	1.375110	0.04605	N	0.399295	T	0.11452	0.0279	N	0.16656	0.425	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30208	-0.9986	10	0.30078	T	0.28	.	0.455	0.00507	0.1757:0.229:0.1823:0.413	.	8	Q8NH51	OR8K3_HUMAN	M	8	ENSP00000323555:T8M	ENSP00000323555:T8M	T	+	2	0	OR8K3	55842381	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-1.038000	0.03553	0.380000	0.24823	-0.321000	0.08615	ACG		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
MS4A3	932	broad.mit.edu	37	11	59828705	59828705	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:59828705G>A	ENST00000278865.3	+	2	145	c.72G>A	c.(70-72)gcG>gcA	p.A24A	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Silent_p.A24A|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Silent_p.A24A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	24				A -> T (in Ref. 1; AAA62319). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCAGTGAGGCGGGACCAGAAG	0.493																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(70-72)gcG>gcA		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							99.0	94.0	96.0					11																	59828705		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828705G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.72G>A	11.37:g.59828705G>A						MS4A3_uc001non.3_Silent_p.A24A|MS4A3_uc001noo.3_Intron	p.A24A	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			1	200	+		all_epithelial(135;0.245)	24	A -> T (in Ref. 1; AAA62319).				A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.72G>A	CCDS31567.1																																																																																				0.493	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		
SIPA1	6494	broad.mit.edu	37	11	65417064	65417064	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:65417064A>C	ENST00000394224.3	+	11	2854	c.2558A>C	c.(2557-2559)aAc>aCc	p.N853T	SIPA1_ENST00000527525.1_Missense_Mutation_p.N751T|SIPA1_ENST00000394227.3_Missense_Mutation_p.N751T|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.N853T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	853					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTCCTGCCCAACACCACCCCG	0.642																																						uc001ofb.2																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2557-2559)aAc>aCc		Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.							84.0	85.0	85.0					11																	65417064		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417064A>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2558A>C	11.37:g.65417064A>C	ENSP00000377771:p.Asn853Thr					SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	p.N853T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN			10	2725	+			853					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2558A>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	A	9.928	1.213975	0.22289	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.38	-1.51	0.08664	.	1.443190	0.04653	N	0.407554	T	0.72095	0.3418	N	0.24115	0.695	0.20196	N	0.999925	B;D	0.53885	0.0;0.963	B;P	0.47528	0.002;0.549	T	0.61242	-0.7102	10	0.12103	T	0.63	-12.8261	11.5271	0.50586	0.5879:0.4121:0.0:0.0	.	751;853	F6RY50;Q96FS4	.;SIPA1_HUMAN	T	853;751;853;751	ENSP00000436269:N853T;ENSP00000433686:N751T;ENSP00000377771:N853T;ENSP00000377774:N751T	ENSP00000377771:N853T	N	+	2	0	SIPA1	65173640	0.684000	0.27642	0.993000	0.49108	0.890000	0.51754	0.621000	0.24418	-0.108000	0.12066	-2.292000	0.00266	AAC		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747	
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:102709964G>A	ENST00000299855.5	-	7	1202	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	316					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R316C(3)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AGGGATTTGCGCCAAAAGTGC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17541	0.0		0.0	False		,,,				2504	0.0					uc001phj.1																			3	Substitution - Missense(3)	p.R316C(6)	ovary(1)|lung(1)|kidney(1)	endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(946-948)Cgc>Tgc		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	84.0	82.0		946	5.7	1.0	11	dbSNP_134	82	0,8598		0,0,4299	no	missense	MMP3	NM_002422.3	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/478	102709964	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709964G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.946C>T	11.37:g.102709964G>A	ENSP00000299855:p.Arg316Cys					DD413629_uc021qpi.1_5'Flank	p.R316C	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	6	1011	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	316			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.946C>T	CCDS8323.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.285195	0.80803	2.27E-4	0.0	ENSG00000149968	ENST00000299855	T	0.04454	3.62	5.65	5.65	0.86999	Hemopexin/matrixin (2);	0.000000	0.36740	N	0.002424	T	0.37571	0.1008	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54886	-0.8226	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	316	P08254	MMP3_HUMAN	C	316	ENSP00000299855:R316C	ENSP00000299855:R316C	R	-	1	0	MMP3	102215174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.837000	0.55820	2.941000	0.99782	0.655000	0.94253	CGC		0.403	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
MANSC1	54682	broad.mit.edu	37	12	12483054	12483054	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr12:12483054G>A	ENST00000535902.1	-	4	1766	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MANSC1_ENST00000396349.3_Silent_p.L367L|MANSC1_ENST00000545735.1_Silent_p.L320L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	401						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCAGGAGGACGAGGCCTATCA	0.488																																						uc001rai.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(1201-1203)ctC>ctT		Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.							87.0	87.0	87.0					12																	12483054		2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483054G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1203C>T	12.37:g.12483054G>A						MANSC1_uc010shm.1_Silent_p.L335L|MANSC1_uc001raj.1_Silent_p.L367L	p.L401L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	1461	-		Prostate(47;0.0865)	401					Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.1203C>T	CCDS8648.1																																																																																				0.488	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050	
C14orf39	317761	broad.mit.edu	37	14	60945101	60945101	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:60945101C>A	ENST00000321731.3	-	5	399	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	80					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CACATGTTGGCTTCCAGCTAT	0.259																																						uc001xez.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(238-240)aaG>aaT		Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.							58.0	57.0	57.0					14																	60945101		2201	4294	6495	SO:0001583	missense	317761							g.chr14:60945101C>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.240G>T	14.37:g.60945101C>A	ENSP00000324920:p.Lys80Asn					C14orf39_uc010apo.3_Intron	p.K80N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	4	350	-			80					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.240G>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933223	0.34096	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.52295	1.44;0.67	5.56	2.74	0.32292	.	0.150706	0.46758	D	0.000264	T	0.60038	0.2238	M	0.67953	2.075	0.39060	D	0.960502	D	0.76494	0.999	D	0.68943	0.961	T	0.60722	-0.7207	10	0.72032	D	0.01	-7.8812	6.7986	0.23738	0.1434:0.7023:0.0:0.1542	.	80	Q8N1H7	S6OS1_HUMAN	N	80;51;80	ENSP00000324920:K80N;ENSP00000451665:K51N	ENSP00000324920:K80N	K	-	3	2	C14orf39	60014854	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.140000	0.31516	0.386000	0.24997	-0.142000	0.14014	AAG		0.259	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
ZFP36L1	677	broad.mit.edu	37	14	69256954	69256954	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:69256954G>A	ENST00000439696.2	-	2	614	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P105S|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	105					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGCCCCCGGGCTGCTTCTGG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021rve.1																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(520-522)Ccc>Tcc		Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.							33.0	38.0	36.0					14																	69256954		2196	4292	6488	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256954G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.313C>T	14.37:g.69256954G>A	ENSP00000388402:p.Pro105Ser		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.2_Missense_Mutation_p.P105S|ZFP36L1_uc001xkh.2_Missense_Mutation_p.P105S	p.P174S	NM_001244701	NP_001231630	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	614	-			105					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.520C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541438	0.45280	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022;ENST00000553375	T;T	0.34275	1.37;1.37	5.22	4.27	0.50696	Tis11B-like protein, N-terminal (1);	0.151547	0.43919	D	0.000503	T	0.28797	0.0714	L	0.36672	1.1	0.80722	D	1	B	0.21452	0.056	B	0.22386	0.039	T	0.05971	-1.0853	10	0.30854	T	0.27	-16.614	12.9232	0.58245	0.0:0.0:0.8382:0.1618	.	105	Q07352	TISB_HUMAN	S	105;105;105;111;83;174	ENSP00000388402:P105S;ENSP00000337386:P105S	ENSP00000337386:P105S	P	-	1	0	ZFP36L1	68326707	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.601000	0.61090	2.423000	0.82170	0.585000	0.79938	CCC		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1		
ACAN	176	broad.mit.edu	37	15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr15:89386651C>T	ENST00000561243.1	+	5	823	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_ENST00000559004.1_Missense_Mutation_p.R275W|ACAN_ENST00000558207.1_Missense_Mutation_p.R275W|ACAN_ENST00000352105.7_Missense_Mutation_p.R275W|ACAN_ENST00000439576.2_Missense_Mutation_p.R275W			P16112	PGCA_HUMAN	aggrecan	275	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.		R -> Q (in dbSNP:rs34949187).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGTGCCGGCGGCTGGGTGC	0.642																																						uc010upo.1																			0		p.R274Q(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(823-825)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							17.0	20.0	19.0					15																	89386651		1929	4139	6068	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386651C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.823C>T	15.37:g.89386651C>T	ENSP00000453342:p.Arg275Trp					ACAN_uc002bmx.3_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_Non-coding_Transcript	p.R275W	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		5	1197	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		275					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.823C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983345	0.53827	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09630	2.96;2.96	5.56	2.5	0.30297	.	0.000000	0.30593	N	0.009286	T	0.29817	0.0745	M	0.67397	2.05	0.31534	N	0.660868	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.987;0.987;0.873	T	0.33523	-0.9865	10	0.72032	D	0.01	-18.6464	14.3885	0.66963	0.6642:0.3358:0.0:0.0	.	275;275;275	E7ENV9;E7EX88;Q6PID9	.;.;.	W	275	ENSP00000387356:R275W;ENSP00000341615:R275W	ENSP00000268134:R275W	R	+	1	2	ACAN	87187655	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	2.086000	0.41643	0.245000	0.21373	0.650000	0.86243	CGG		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
CEMP1	752014	broad.mit.edu	37	16	2580611	2580611	+	Missense_Mutation	SNP	C	C	T	rs202055274		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:2580611C>T	ENST00000567119.1	-	1	798	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CEMP1_ENST00000565480.1_Intron|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.R155H|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R546C	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	155						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGGAGGTACGCGCCTGGCTCT	0.567																																						uc010uwc.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1636-1638)Cgc>Tgc		Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.		C	HIS/ARG,CYS/ARG	0,4102		0,0,2051	98.0	104.0	102.0		464,1636	-3.5	0.0	16		102	1,8379		0,1,4189	yes	missense,missense	AMDHD2,CEMP1	NM_001048212.3,NM_001145815.1	29,180	0,1,6240	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	155/248,546/595	2580611	1,12481	2051	4190	6241	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2580611C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.464G>A	16.37:g.2580611C>T	ENSP00000457380:p.Arg155His					AMDHD2_uc010uwd.2_Missense_Mutation_p.R310C|CEMP1_uc002cqr.3_Missense_Mutation_p.R155H	p.R546C	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN			10	1733	+			0					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.1636C>T	CCDS42108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.950|0.950	-0.706711|-0.706711	0.03230|0.03230	0.0|0.0	1.19E-4|1.19E-4	ENSG00000162066|ENSG00000205923	ENST00000413459|ENST00000382350	.|T	.|0.56275	.|0.47	1.76|1.76	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.36276|0.36276	0.0961|0.0961	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.10965|0.10965	-1.0607|-1.0607	7|8	0.87932|0.87932	D|D	0|0	.|.	2.5923|2.5923	0.04846|0.04846	0.1434:0.4989:0.1442:0.2135|0.1434:0.4989:0.1442:0.2135	.|.	546|155	Q9Y303-3|Q6PRD7	.|CEMP1_HUMAN	C|H	546|155	.|ENSP00000371787:R155H	ENSP00000391596:R546C|ENSP00000371787:R155H	R|R	+|-	1|2	0|0	AMDHD2|CEMP1	2520612|2520612	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.597000|-1.597000	0.02089|0.02089	-3.240000|-3.240000	0.00207|0.00207	-1.134000|-1.134000	0.01955|0.01955	CGC|CGC		0.567	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212	
ATXN2L	11273	broad.mit.edu	37	16	28847275	28847275	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:28847275A>T	ENST00000336783.4	+	22	3084	c.2917A>T	c.(2917-2919)Aca>Tca	p.T973S	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T973S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T979S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T973S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T973S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T973S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T973S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	973					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACTGGAATCACAGCAGCCCC	0.622																																						uc002dqy.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2917-2919)Aca>Tca		Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.							38.0	48.0	44.0					16																	28847275		2197	4289	6486	SO:0001583	missense	11273					membrane		g.chr16:28847275A>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2917A>T	16.37:g.28847275A>T	ENSP00000338718:p.Thr973Ser					NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T973S|ATXN2L_uc002dra.3_Missense_Mutation_p.T973S|ATXN2L_uc002drb.3_Missense_Mutation_p.T973S|ATXN2L_uc002drc.3_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T979S|ATXN2L_uc002dre.3_Missense_Mutation_p.T973S|ATXN2L_uc002drf.3_Missense_Mutation_p.T382S|ATXN2L_uc002drg.3_Missense_Mutation_p.T256S	p.T973S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN			21	3084	+			973					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2917A>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513782	0.27123	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.42131	0.99;0.98;0.99;0.99;0.98	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.17959	0.0431	N	0.04880	-0.145	0.38417	D	0.946087	B;B;B;B;B;B	0.33807	0.131;0.131;0.206;0.206;0.131;0.426	B;B;B;B;B;B	0.28011	0.039;0.039;0.085;0.085;0.039;0.085	T	0.21348	-1.0248	10	0.08599	T	0.76	-9.7617	10.1427	0.42744	0.922:0.0:0.078:0.0	.	973;973;973;973;973;973	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	S	973	ENSP00000341459:T973S;ENSP00000378917:T973S;ENSP00000338718:T973S;ENSP00000372133:T973S;ENSP00000315650:T973S	ENSP00000315650:T973S	T	+	1	0	ATXN2L	28754776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.027000	0.41078	2.222000	0.72286	0.383000	0.25322	ACA		0.622	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
MYH8	4626	broad.mit.edu	37	17	10304645	10304645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:10304645T>A	ENST00000403437.2	-	24	3149	c.3055A>T	c.(3055-3057)Aaa>Taa	p.K1019*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1019					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTGACTTTGTCCTCCTCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3055-3057)Aaa>Taa		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							165.0	164.0	164.0					17																	10304645		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304645T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3055A>T	17.37:g.10304645T>A	ENSP00000384330:p.Lys1019*					AK097500_uc002gml.1_Intron	p.K1019*	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	3150	-			1019					Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.3055A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	41	8.786312	0.98954	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.65	5.65	0.86999	.	0.000000	0.44285	U	0.000464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	.	.	.	X	1019	.	ENSP00000252173:K1019X	K	-	1	0	MYH8	10245370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.585000	0.82584	2.371000	0.80710	0.533000	0.62120	AAA		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
NLE1	54475	broad.mit.edu	37	17	33463392	33463392	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:33463392A>G	ENST00000442241.4	-	8	992	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NLE1_ENST00000586869.1_Missense_Mutation_p.L26P|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Missense_Mutation_p.L276P	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	318					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGATCCTTGGAGGTCTTGGGG	0.567																																						uc002hiy.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(952-954)cTc>cCc		Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.							186.0	205.0	198.0					17																	33463392		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33463392A>G		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.953T>C	17.37:g.33463392A>G	ENSP00000413572:p.Leu318Pro					NLE1_uc002hiz.1_Missense_Mutation_p.L26P	p.L318P	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			7	981	-		Ovarian(249;0.17)	318					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.953T>C	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.95|10.95	1.495637|1.495637	0.26774|0.26774	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697|ENST00000436188	T|.	0.59906|.	0.23|.	5.32|5.32	5.32|5.32	0.75619|0.75619	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.511596|.	0.21947|.	N|.	0.066785|.	T|T	0.56645|0.56645	0.1999|0.1999	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P;P|.	0.48764|.	0.915;0.602|.	P;B|.	0.48114|.	0.567;0.378|.	T|T	0.53493|0.53493	-0.8431|-0.8431	10|5	0.27082|.	T|.	0.32|.	-18.2814|-18.2814	13.2682|13.2682	0.60146|0.60146	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	294;318|.	B4E074;Q9NVX2|.	.;NLE1_HUMAN|.	P|P	318;26;294|98	ENSP00000413572:L318P|.	ENSP00000354075:L26P|.	L|S	-|-	2|1	0|0	NLE1|NLE1	30487505|30487505	0.997000|0.997000	0.39634|0.39634	0.976000|0.976000	0.42696|0.42696	0.887000|0.887000	0.51463|0.51463	8.416000|8.416000	0.90244|0.90244	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.567	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	
EPX	8288	broad.mit.edu	37	17	56270743	56270743	+	Missense_Mutation	SNP	G	G	A	rs200653613		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:56270743G>A	ENST00000225371.5	+	3	292	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	61					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATCAAGCAGCGGCTTCGCAGC	0.612																																						uc002ivq.3																			0		p.R61W(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(181-183)cGg>cAg		Homo sapiens eosinophil peroxidase (EPX), mRNA.		G	GLN/ARG	0,4406		0,0,2203	96.0	96.0	96.0		182	1.8	0.1	17		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	61/716	56270743	1,13005	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270743G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.182G>A	17.37:g.56270743G>A	ENSP00000225371:p.Arg61Gln						p.R61Q	NM_000502	NP_000493	P11678	PERE_HUMAN			2	301	+			61					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.182G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835656	0.32421	0.0	1.16E-4	ENSG00000121053	ENST00000225371	T	0.71341	-0.56	4.86	1.77	0.24775	.	0.741186	0.13513	N	0.382336	T	0.70518	0.3233	M	0.80982	2.52	0.24662	N	0.993465	P	0.51537	0.946	B	0.43274	0.414	T	0.62001	-0.6946	10	0.54805	T	0.06	-3.7069	8.9914	0.36026	0.2346:0.0:0.7654:0.0	.	61	P11678	PERE_HUMAN	Q	61	ENSP00000225371:R61Q	ENSP00000225371:R61Q	R	+	2	0	EPX	53625742	0.039000	0.19947	0.091000	0.20842	0.204000	0.24138	1.535000	0.36061	0.205000	0.20568	0.549000	0.68633	CGG		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
XAB2	56949	broad.mit.edu	37	19	7687257	7687257	+	Missense_Mutation	SNP	A	A	G	rs374151176		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:7687257A>G	ENST00000358368.4	-	12	1614	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T	XAB2_ENST00000534844.1_Missense_Mutation_p.M523T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	526					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGGAACATGGCATAGTT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1576-1578)aTg>aCg	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens XPA binding protein 2 (XAB2), mRNA.		A	THR/MET	0,4406		0,0,2203	209.0	176.0	187.0		1577	4.7	1.0	19		187	1,8599	1.2+/-3.3	0,1,4299	no	missense	XAB2	NM_020196.2	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	526/856	7687257	1,13005	2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687257A>G	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1577T>C	19.37:g.7687257A>G	ENSP00000351137:p.Met526Thr						p.M526T	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			11	1603	-			526					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1577T>C	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699612	0.30142	0.0	1.16E-4	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03607	3.87;3.87	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.101878	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31664	0.95	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.49224	-0.8962	10	0.22706	T	0.39	-28.2639	13.087	0.59146	1.0:0.0:0.0:0.0	.	526	Q9HCS7	SYF1_HUMAN	T	526;523	ENSP00000351137:M526T;ENSP00000438225:M523T	ENSP00000351137:M526T	M	-	2	0	XAB2	7593257	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.969000	0.93411	1.742000	0.51746	0.379000	0.24179	ATG		0.607	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196	
NDUFA3	4696	broad.mit.edu	37	19	54609317	54609317	+	Splice_Site	SNP	A	A	C	rs368243962		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:54609317A>C	ENST00000485876.1	+	3	204	c.162A>C	c.(160-162)ccA>ccC	p.P54P	NDUFA3_ENST00000391762.1_Splice_Site_p.P54P|NDUFA3_ENST00000391764.3_Splice_Site_p.P54P|NDUFA3_ENST00000303553.5_Splice_Site_p.P11P|NDUFA3_ENST00000471292.1_Silent_p.P54P|NDUFA3_ENST00000391763.3_Splice_Site_p.S58R			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	54					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)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ACAACTACCCAGGTGAGTGGG	0.577																																						uc002qde.3																			0				breast(1)|endometrium(1)	2						c.e3+1		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	NADH(DB00157)						93.0	80.0	85.0					19																	54609317		2203	4300	6503	SO:0001630	splice_region_variant	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54609317A>C	AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"""Mitochondrial respiratory chain complex / Complex I"""	7686	protein-coding gene	gene with protein product	"""complex I B9 subunit"""	603832	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"""			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.163+1A>C	19.37:g.54609317A>C						NDUFA3_uc002qdf.3_Splice_Site	p.V55_splice	NM_004542	NP_004533	O95167	NDUA3_HUMAN			3	190	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		55						Silent	SNP	ENST00000485876.1	37	c.163_splice	CCDS12877.1	.	.	.	.	.	.	.	.	.	.	a	11.32	1.605294	0.28623	.	.	ENSG00000170906	ENST00000391763;ENST00000420296	.	.	.	4.12	3.02	0.34903	.	.	.	.	.	T	0.64560	0.2609	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67956	-0.5536	5	0.87932	D	0	-7.5264	8.8703	0.35311	0.8126:0.1874:0.0:0.0	.	.	.	.	R	58;16	.	ENSP00000375643:S58R	S	+	1	0	NDUFA3	59301129	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.448000	0.35112	1.883000	0.54544	0.514000	0.50259	AGT		0.577	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139509.5	NM_004542	Silent
ZNF497	162968	broad.mit.edu	37	19	58868065	58868065	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:58868065C>T	ENST00000311044.3	-	3	1125	c.937G>A	c.(937-939)Gag>Aag	p.E313K	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.E313K|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	313					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(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGAGCTCTCGCGGAAAGCC	0.701																																						uc002qsh.2																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(937-939)Gag>Aag		Homo sapiens zinc finger protein 497 (ZNF497), mRNA.							7.0	8.0	8.0					19																	58868065		2171	4268	6439	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868065C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.937G>A	19.37:g.58868065C>T	ENSP00000311183:p.Glu313Lys					A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.E313K|ZNF497_uc021vcw.1_Missense_Mutation_p.E313K|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	p.E313K	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	2	1220	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	313					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.937G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387790	0.42308	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.07327	3.2;3.2	1.12	-0.225	0.13111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.02412	-0.56	0.09310	N	1	B	0.30793	0.295	B	0.30855	0.121	T	0.43653	-0.9378	9	0.30854	T	0.27	.	3.4465	0.07482	0.0:0.5344:0.2743:0.1913	.	313	Q6ZNH5	ZN497_HUMAN	K	313;313;102	ENSP00000311183:E313K;ENSP00000402815:E313K	ENSP00000311183:E313K	E	-	1	0	ZNF497	63559877	0.000000	0.05858	0.009000	0.14445	0.079000	0.17450	-7.600000	0.00033	-0.019000	0.14055	0.205000	0.17691	GAG		0.701	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458	
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:144381721C>T	ENST00000295095.6	+	12	1190	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448																																						uc002tvm.4																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1021-1023)gaC>gaT		Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.		C		0,4406		0,0,2203	89.0	85.0	86.0		1023	4.4	1.0	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP15	NM_018460.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		341/476	144381721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023C>T	2.37:g.144381721C>T						ARHGAP15_uc002tvn.3_Silent_p.D107D	p.D341D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1174	+			341			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1023C>T	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
ZDBF2	57683	broad.mit.edu	37	2	207174442	207174442	+	Silent	SNP	G	G	A	rs140337696	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:207174442G>A	ENST00000374423.3	+	5	5576	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1730							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.0					uc002vbp.2																			0		p.R1729C(1)|p.S1730L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5188-5190)tcG>tcA		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.		G		2,3734		0,2,1866	75.0	73.0	74.0		5190	-1.2	0.0	2	dbSNP_134	74	0,8214		0,0,4107	no	coding-synonymous	ZDBF2	NM_020923.1		0,2,5973	AA,AG,GG		0.0,0.0535,0.0167		1730/2355	207174442	2,11948	1868	4107	5975	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207174442G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5190G>A	2.37:g.207174442G>A							p.S1730S	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	5440	+			1730					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.5190G>A	CCDS46501.1																																																																																				0.458	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
NTSR1	4923	broad.mit.edu	37	20	61340986	61340986	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr20:61340986G>A	ENST00000370501.3	+	1	798	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	143					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCTGCCGCGGCTACTACTT	0.677																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(427-429)Ggc>Agc		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.							42.0	46.0	45.0					20																	61340986		2200	4294	6494	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340986G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.427G>A	20.37:g.61340986G>A	ENSP00000359532:p.Gly143Ser						p.G143S	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		0	798	+	Breast(26;3.65e-08)		143					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.427G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277675	0.95459	.	.	ENSG00000101188	ENST00000370501	T	0.36520	1.25	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.42529	1.33	0.58432	D	0.999994	D	0.63880	0.993	P	0.56343	0.796	T	0.36311	-0.9753	10	0.59425	D	0.04	-43.9467	11.7321	0.51744	0.0825:0.0:0.9175:0.0	.	143	P30989	NTR1_HUMAN	S	143	ENSP00000359532:G143S	ENSP00000359532:G143S	G	+	1	0	NTSR1	60811431	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.619000	0.74219	2.404000	0.81709	0.561000	0.74099	GGC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1		
EP300	2033	broad.mit.edu	37	22	41556657	41556657	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr22:41556657G>A	ENST00000263253.7	+	20	4821	c.3602G>A	c.(3601-3603)tGt>tAt	p.C1201Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1201					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.4				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		1	Deletion - In frame(1)	p.Y1198_L1243del(2)	breast(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(3601-3603)tGt>tAt		Homo sapiens E1A binding protein p300 (EP300), mRNA.							144.0	115.0	125.0					22																	41556657		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556657G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3602G>A	22.37:g.41556657G>A	ENSP00000263253:p.Cys1201Tyr						p.C1201Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			19	3997	+			1201					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3602G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716801	0.68844	.	.	ENSG00000100393	ENST00000263253	D	0.94828	-3.53	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000057	D	0.98012	0.9345	M	0.92604	3.325	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	D	0.98771	1.0728	10	0.87932	D	0	-5.004	19.4278	0.94751	0.0:0.0:1.0:0.0	.	1201	Q09472	EP300_HUMAN	Y	1201	ENSP00000263253:C1201Y	ENSP00000263253:C1201Y	C	+	2	0	EP300	39886603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	TGT		0.488	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
ITGA9	3680	broad.mit.edu	37	3	37555330	37555330	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:37555330C>A	ENST00000264741.5	+	9	1230	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ITGA9_ENST00000422441.1_Missense_Mutation_p.A325D	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	325					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGTGGGGGCCCCCATGTTT	0.547																																						uc003chd.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(973-975)gCc>gAc		Homo sapiens integrin, alpha 9 (ITGA9), mRNA.							93.0	91.0	92.0					3																	37555330		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37555330C>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.974C>A	3.37:g.37555330C>A	ENSP00000264741:p.Ala325Asp					ITGA9_uc003chc.3_Missense_Mutation_p.A325D	p.A325D	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	8	1027	+			325					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.974C>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146689	0.94603	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70178	-0.4943	10	0.87932	D	0	.	18.9016	0.92444	0.0:1.0:0.0:0.0	.	325;325	Q13797;E9PDS3	ITA9_HUMAN;.	D	325	ENSP00000397258:A325D;ENSP00000264741:A325D	ENSP00000264741:A325D	A	+	2	0	ITGA9	37530334	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.466000	0.83321	0.467000	0.42956	GCC		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
NBEAL2	23218	broad.mit.edu	37	3	47040321	47040321	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:47040321C>T	ENST00000450053.3	+	23	3515	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.V1112V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1112					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGTGCAGGTCACGCAGACCA	0.672											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3334-3336)gtC>gtT		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							39.0	42.0	41.0					3																	47040321		2100	4203	6303	SO:0001819	synonymous_variant	23218						binding	g.chr3:47040321C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3336C>T	3.37:g.47040321C>T			OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_uc010hjm.2_Silent_p.V673V	p.V1112V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	22	3515	+		Acute lymphoblastic leukemia(5;0.0534)	1112					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.3336C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.993088	0.02145	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.39829	D	0.97294	.	.	.	.	.	.	T	0.42816	-0.9429	4	.	.	.	.	4.3048	0.10942	0.0815:0.2475:0.3782:0.2928	.	.	.	.	L	584	.	.	S	+	2	0	NBEAL2	47015325	0.007000	0.16637	0.000000	0.03702	0.051000	0.14879	-1.885000	0.01620	-1.916000	0.01075	0.555000	0.69702	TCA		0.672	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NLGN1	22871	broad.mit.edu	37	3	173525621	173525621	+	Splice_Site	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:173525621C>T	ENST00000457714.1	+	4	1074	c.645C>T	c.(643-645)ctC>ctT	p.L215L	NLGN1_ENST00000545397.1_Splice_Site_p.L215L|NLGN1_ENST00000361589.4_Splice_Site_p.L215L|NLGN1_ENST00000401917.3_Splice_Site_p.L255L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	232					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)			TTGGAGTACTCGGTAAGAAGA	0.383																																						uc021xhm.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.e4+1		Homo sapiens neuroligin 1 (NLGN1), mRNA.							127.0	120.0	122.0					3																	173525621		2203	4300	6503	SO:0001630	splice_region_variant	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.chr3:173525621C>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.646+1C>T	3.37:g.173525621C>T						NLGN1_uc003fio.1_Splice_Site_p.G216_splice|NLGN1_uc010hww.1_Splice_Site_p.G256_splice|NLGN1_uc003fip.1_Splice_Site_p.G216_splice	p.G256_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1086	+	Ovarian(172;0.0025)		233					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.766_splice	CCDS3222.1																																																																																				0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	Silent
CLNK	116449	broad.mit.edu	37	4	10522452	10522452	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:10522452A>G	ENST00000226951.6	-	15	974	c.735T>C	c.(733-735)tcT>tcC	p.S245S		NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	245	Poly-Ser.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCGTGAATGAAGAACTATAAG	0.363																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.4																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(733-735)tcT>tcC		Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.							115.0	104.0	107.0					4																	10522452		1836	4089	5925	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10522452A>G	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.735T>C	4.37:g.10522452A>G							p.S245S	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			14	872	-			245			Poly-Ser.		Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.735T>C	CCDS47024.1																																																																																				0.363	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
SLC30A9	10463	broad.mit.edu	37	4	42080309	42080309	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:42080309A>G	ENST00000264451.7	+	17	1809	c.1629A>G	c.(1627-1629)ggA>ggG	p.G543G		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	543					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACTTTAGGAGCTGAAGTAG	0.299																																						uc003gwl.3																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1627-1629)ggA>ggG		Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.							50.0	55.0	53.0					4																	42080309		2203	4294	6497	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42080309A>G	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1629A>G	4.37:g.42080309A>G						SLC30A9_uc011byx.2_Silent_p.G303G	p.G543G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN			16	1775	+			543					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1629A>G	CCDS3465.1																																																																																				0.299	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
SMR3B	10879	broad.mit.edu	37	4	71255517	71255517	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:71255517C>T	ENST00000304915.3	+	3	341	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SMR3B_ENST00000504825.1_Silent_p.P64P	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	64	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P64P(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CTCCTCCTCCCGCACCCTATG	0.602																																						uc011cas.2																			1	Substitution - coding silent(1)	p.P64P(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(190-192)ccC>ccT		Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.							118.0	110.0	112.0					4																	71255517		2203	4300	6503	SO:0001819	synonymous_variant	10879					extracellular region		g.chr4:71255517C>T	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.192C>T	4.37:g.71255517C>T						SMR3A_uc003hfh.3_Silent_p.P64P	p.P64P	NM_006685	NP_006676	Q99954	SMR3A_HUMAN			2	273	+		all_hematologic(202;0.196)	68			Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Silent	SNP	ENST00000304915.3	37	c.192C>T	CCDS3540.1																																																																																				0.602	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685	
IRX1	79192	broad.mit.edu	37	5	3599499	3599499	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:3599499T>G	ENST00000302006.3	+	2	489	c.437T>G	c.(436-438)cTc>cGc	p.L146R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	146					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGCCTGGCTCAACGAGCAC	0.637																																						uc003jde.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(436-438)cTc>cGc		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							135.0	108.0	117.0					5																	3599499		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599499T>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.437T>G	5.37:g.3599499T>G	ENSP00000305244:p.Leu146Arg						p.L146R	NM_024337	NP_077313	P78414	IRX1_HUMAN			1	489	+			146					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.437T>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239246	0.79800	.	.	ENSG00000170549	ENST00000302006	D	0.84800	-1.9	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.067139	0.56097	D	0.000022	D	0.94614	0.8264	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96093	0.9063	10	0.87932	D	0	.	14.0584	0.64784	0.0:0.0:0.0:1.0	.	146	P78414	IRX1_HUMAN	R	146	ENSP00000305244:L146R	ENSP00000305244:L146R	L	+	2	0	IRX1	3652499	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.776000	0.85560	1.765000	0.52091	0.533000	0.62120	CTC		0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
MAP3K1	4214	broad.mit.edu	37	5	56176540	56176540	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:56176540G>A	ENST00000399503.3	+	12	2090	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	697					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTTTTAGCCGCACAAGTCAG	0.398																																						uc003jqw.4																			0		p.I696I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2089-2091)cGc>cAc		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							117.0	103.0	108.0					5																	56176540		1946	4150	6096	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56176540G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2090G>A	5.37:g.56176540G>A	ENSP00000382423:p.Arg697His						p.R697H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	11	2591	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	697						Missense_Mutation	SNP	ENST00000399503.3	37	c.2090G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232591	0.95207	.	.	ENSG00000095015	ENST00000399503	T	0.67523	-0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81269	-0.1009	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	697	Q13233	M3K1_HUMAN	H	697	ENSP00000382423:R697H	ENSP00000382423:R697H	R	+	2	0	MAP3K1	56212297	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.070000	0.89493	2.941000	0.99782	0.655000	0.94253	CGC		0.398	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
CMYA5	202333	broad.mit.edu	37	5	79029879	79029879	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:79029879G>T	ENST00000446378.2	+	2	5322	c.5291G>T	c.(5290-5292)gGa>gTa	p.G1764V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1764					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTAAAAAGGGAGGAAATCAA	0.413																																						uc003kgc.3																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(5290-5292)gGa>gTa		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							69.0	66.0	67.0					5																	79029879		1834	4075	5909	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029879G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5291G>T	5.37:g.79029879G>T	ENSP00000394770:p.Gly1764Val						p.G1764V	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	5363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1764					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5291G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	2.513	-0.312451	0.05422	.	.	ENSG00000164309	ENST00000446378	T	0.53857	0.6	4.16	-2.24	0.06909	.	.	.	.	.	T	0.37785	0.1016	N	0.22421	0.69	0.09310	N	0.999998	P	0.48162	0.906	P	0.46585	0.521	T	0.29366	-1.0014	9	0.66056	D	0.02	.	4.6788	0.12725	0.5414:0.1742:0.2844:0.0	.	1764	Q8N3K9	CMYA5_HUMAN	V	1764	ENSP00000394770:G1764V	ENSP00000394770:G1764V	G	+	2	0	CMYA5	79065635	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.108000	0.10857	-0.502000	0.06596	-0.214000	0.12660	GGA		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
FAM81B	153643	broad.mit.edu	37	5	94749823	94749823	+	Missense_Mutation	SNP	G	G	A	rs202064996		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:94749823G>A	ENST00000283357.5	+	4	512	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	156						nucleus (GO:0005634)		p.A156T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0					uc003kla.1																			1	Substitution - Missense(1)	p.A156T(2)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(466-468)Gcc>Acc		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							94.0	95.0	95.0					5																	94749823		1977	4164	6141	SO:0001583	missense	153643							g.chr5:94749823G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.466G>A	5.37:g.94749823G>A	ENSP00000283357:p.Ala156Thr					FAM81B_uc010jbe.1_5'UTR	p.A156T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	512	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	156						Missense_Mutation	SNP	ENST00000283357.5	37	c.466G>A	CCDS43341.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.72	2.620537	0.46736	.	.	ENSG00000153347	ENST00000283357	T	0.21734	1.99	5.53	3.72	0.42706	.	0.057016	0.64402	D	0.000002	T	0.21227	0.0511	M	0.66939	2.045	0.36034	D	0.839605	D	0.56746	0.977	B	0.39617	0.305	T	0.33292	-0.9874	10	0.44086	T	0.13	-9.6175	11.8194	0.52230	0.1296:0.0:0.8704:0.0	.	156	Q96LP2	FA81B_HUMAN	T	156	ENSP00000283357:A156T	ENSP00000283357:A156T	A	+	1	0	FAM81B	94775579	1.000000	0.71417	0.985000	0.45067	0.379000	0.30106	3.689000	0.54706	2.602000	0.87976	0.650000	0.86243	GCC		0.458	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
GABRA6	2559	broad.mit.edu	37	5	161128647	161128647	+	Silent	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:161128647C>A	ENST00000274545.5	+	9	1663	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A	GABRA6_ENST00000523217.1_Silent_p.A400A			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	410					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCGCCAGCCTTTGGAGGCA	0.468										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1228-1230)gcC>gcA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						113.0	106.0	108.0					5																	161128647		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128647C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1230C>A	5.37:g.161128647C>A		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.A181A	p.A410A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1568	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	410					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1230C>A	CCDS4356.1																																																																																				0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
CAP2	10486	broad.mit.edu	37	6	17543298	17543298	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:17543298G>A	ENST00000229922.2	+	11	1665	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y	CAP2_ENST00000465994.1_Missense_Mutation_p.C314Y|CAP2_ENST00000493172.1_Missense_Mutation_p.C118Y|CAP2_ENST00000378990.2_Missense_Mutation_p.C352Y|CAP2_ENST00000489374.1_Missense_Mutation_p.C266Y	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	378	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGACAACTGTAAAAAACTC	0.403																																						uc003ncb.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(1132-1134)tGt>tAt		Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.							176.0	177.0	177.0					6																	17543298		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17543298G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1133G>A	6.37:g.17543298G>A	ENSP00000229922:p.Cys378Tyr					CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.C352Y|CAP2_uc011djb.2_Missense_Mutation_p.C314Y|CAP2_uc011djc.2_Missense_Mutation_p.C266Y|CAP2_uc011djd.2_Missense_Mutation_p.C118Y	p.C378Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		10	1376	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	378			C-CAP/cofactor C-like.		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1133G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	g	18.57	3.651526	0.67472	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.19105	2.24;2.19;2.27;2.17	5.55	5.55	0.83447	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0	D;D;D;D;D	0.97110	0.991;1.0;0.991;0.992;1.0	T	0.62680	-0.6803	10	0.87932	D	0	-13.4214	19.8519	0.96744	0.0:0.0:1.0:0.0	.	118;266;314;352;378	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	Y	378;295;266;352;118;314	ENSP00000229922:C378Y;ENSP00000417705:C266Y;ENSP00000368275:C352Y;ENSP00000418604:C314Y	ENSP00000229922:C378Y	C	+	2	0	CAP2	17651277	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.813000	0.99286	2.774000	0.95407	0.561000	0.74099	TGT		0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		
ROS1	6098	broad.mit.edu	37	6	117638305	117638305	+	Splice_Site	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:117638305C>T	ENST00000368508.3	-	38	6334		c.e38+1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_5'Flank	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAACTGCCTACCGTTGCCATC	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e38+1		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							122.0	114.0	117.0					6																	117638305		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117638305C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6135+1G>A	6.37:g.117638305C>T						ROS1_uc011ebi.1_Splice_Site	p.T2045_splice	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6334	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2045			Protein kinase.		Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	c.6135_splice	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006532	0.35415	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.146	0.81569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117744998	1.000000	0.71417	0.992000	0.48379	0.126000	0.20510	3.897000	0.56273	2.487000	0.83934	0.655000	0.94253	.		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron
DAGLB	221955	broad.mit.edu	37	7	6449599	6449599	+	Missense_Mutation	SNP	G	G	A	rs34807437		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:6449599G>A	ENST00000297056.6	-	15	2057	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	DAGLB_ENST00000425398.2_Missense_Mutation_p.L501F|DAGLB_ENST00000436575.1_Missense_Mutation_p.L589F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	630					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGACCTATGAGTATTTTGCTG	0.577																																						uc003sqa.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1888-1890)Ctc>Ttc		Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.							126.0	124.0	125.0					7																	6449599		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449599G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1888C>T	7.37:g.6449599G>A	ENSP00000297056:p.Leu630Phe					DAGLB_uc003spy.3_Missense_Mutation_p.L176F|DAGLB_uc003spz.3_Missense_Mutation_p.L327F|DAGLB_uc011jwt.2_Missense_Mutation_p.L444F|DAGLB_uc011jwu.2_Missense_Mutation_p.L501F|DAGLB_uc003sqb.3_Missense_Mutation_p.L349F|DAGLB_uc003sqc.3_Missense_Mutation_p.L349F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.L589F	p.L630F	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	14	2058	-		Ovarian(82;0.232)	630					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1888C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.085009	0.76642	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.50277	0.75;0.75;0.75	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.63248	0.2495	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.65815	0.981;0.989;0.962;0.995	P;P;P;P	0.62298	0.735;0.806;0.598;0.9	T	0.63216	-0.6687	10	0.27082	T	0.32	-20.2828	7.5812	0.27965	0.1936:0.0:0.8064:0.0	.	501;444;630;327	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	F	630;501;589	ENSP00000297056:L630F;ENSP00000391171:L501F;ENSP00000404785:L589F	ENSP00000297056:L630F	L	-	1	0	DAGLB	6416124	0.999000	0.42202	0.965000	0.40720	0.984000	0.73092	3.319000	0.51983	2.731000	0.93534	0.650000	0.86243	CTC		0.577	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179	
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662																																						uc011kjz.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1657-1659)Atg>Gtg		Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.							48.0	45.0	46.0					7																	100198322		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198322A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1543A>G	7.37:g.100198322A>G	ENSP00000241071:p.Met515Val					FBXO24_uc003uvm.1_Missense_Mutation_p.M515V|FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	p.M553V	NM_012172	NP_036304	O75426	FBX24_HUMAN			9	1725	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		515					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.1657A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	0.269	-0.993871	0.02145	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.12879	2.64;2.64;2.64	4.31	-2.6	0.06190	.	0.714629	0.12064	N	0.502842	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.11794	T	0.64	0.0993	5.8331	0.18590	0.6289:0.0:0.2231:0.148	.	503;553;515;515	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	V	515;503;553	ENSP00000241071:M515V;ENSP00000420239:M503V;ENSP00000416558:M553V	ENSP00000241071:M515V	M	+	1	0	FBXO24	100036258	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.624000	0.05540	-0.835000	0.04234	-0.476000	0.04901	ATG		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
NOM1	64434	broad.mit.edu	37	7	156743012	156743012	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:156743012G>A	ENST00000275820.3	+	1	596	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	194	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTTGCCTCGGTTTGAACAAG	0.617																																						uc003wmy.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(580-582)gGt>gAt		Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.							84.0	96.0	92.0					7																	156743012		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743012G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.581G>A	7.37:g.156743012G>A	ENSP00000275820:p.Gly194Asp						p.G194D	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	0	596	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	194			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.581G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364559	0.82463	.	.	ENSG00000146909	ENST00000275820	T	0.16073	2.37	4.19	4.19	0.49359	.	0.064498	0.64402	D	0.000008	T	0.42426	0.1202	M	0.76328	2.33	0.58432	D	0.999996	D	0.89917	1.0	D	0.72075	0.976	T	0.45366	-0.9266	10	0.59425	D	0.04	-29.3951	16.778	0.85556	0.0:0.0:1.0:0.0	.	194	Q5C9Z4	NOM1_HUMAN	D	194	ENSP00000275820:G194D	ENSP00000275820:G194D	G	+	2	0	NOM1	156435773	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.118000	0.64673	2.154000	0.67381	0.650000	0.86243	GGT		0.617	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
CYP11B1	1584	broad.mit.edu	37	8	143960555	143960555	+	Silent	SNP	G	G	A	rs5284	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr8:143960555G>A	ENST00000292427.4	-	2	320	c.288C>T	c.(286-288)gaC>gaT	p.D96D	CYP11B1_ENST00000517471.1_Silent_p.D96D|CYP11B1_ENST00000377675.3_Silent_p.D141D	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	96					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCTTCTCCACGTCCTCCGGCA	0.627									Familial Hyperaldosteronism type I				.|||	2	0.000399361	0.0008	0.0	5008	,	,		19188	0.0		0.0	False		,,,				2504	0.001					uc010mey.3																			1	Substitution - coding silent(1)	p.D96D(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(421-423)gaC>gaT		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Mitotane(DB00648)	G	,	0,4406		0,0,2203	201.0	148.0	166.0		288,288	-2.2	0.0	8	dbSNP_52	166	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	CYP11B1	NM_000497.3,NM_001026213.1	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	96/504,96/438	143960555	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960555G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.288C>T	8.37:g.143960555G>A						CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.D96D|CYP11B1_uc003yxj.3_Silent_p.D96D	p.D141D	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	430	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		96					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.423C>T	CCDS6392.1																																																																																				0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr9:140809200C>T	ENST00000371372.1	+	5	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277551.2_Silent_p.I239I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTGCCATCATTGGCCTGG	0.567																																						uc004cog.3																			1	Substitution - coding silent(1)	p.I239I(2)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(715-717)atC>atT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						115.0	113.0	113.0					9																	140809200		2132	4252	6384	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809200C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.717C>T	9.37:g.140809200C>T						CACNA1B_uc022bqn.1_Silent_p.I239I	p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	4	862	+	all_cancers(76;0.166)		239					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.717C>T	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
