#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DBF4	10926	broad.mit.edu	37	7	87537388	87537388	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:87537388T>A	ENST00000265728.1	+	12	2439	c.1935T>A	c.(1933-1935)aaT>aaA	p.N645K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	645					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTATATGCAATGTTTTAGATA	0.348																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1933-1935)aaT>aaA		DBF4 homolog (S. cerevisiae)							51.0	56.0	54.0					7																	87537388		2203	4298	6501	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87537388T>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1935T>A	7.37:g.87537388T>A	ENSP00000265728:p.Asn645Lys						p.N645K	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	2439	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	645					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1935T>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	T	8.336	0.827519	0.16749	.	.	ENSG00000006634	ENST00000265728	T	0.28895	1.59	5.14	1.26	0.21427	.	0.613165	0.15506	N	0.258777	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B;B	0.21520	0.02;0.057	B;B	0.16722	0.01;0.016	T	0.20338	-1.0278	10	0.52906	T	0.07	-1.7704	0.3315	0.00319	0.2845:0.1677:0.1474:0.4004	.	421;645	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	K	645	ENSP00000265728:N645K	ENSP00000265728:N645K	N	+	3	2	DBF4	87375324	0.004000	0.15560	0.417000	0.26559	0.637000	0.38172	0.218000	0.17622	-0.028000	0.13850	-1.212000	0.01626	AAT		0.348	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		6	110	0	0	0	1	0	6	110				
MTMR3	8897	broad.mit.edu	37	22	30408409	30408409	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr22:30408409C>G	ENST00000401950.2	+	13	1516	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.L256V|MTMR3_ENST00000333027.3_Missense_Mutation_p.L392V|MTMR3_ENST00000351488.3_Missense_Mutation_p.L392V|MTMR3_ENST00000406629.1_Missense_Mutation_p.L392V	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	392	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCTGTGCTTCTGAAATCAGC	0.473																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1174-1176)Ctg>Gtg		myotubularin related protein 3							178.0	174.0	175.0					22																	30408409		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408409C>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1174C>G	22.37:g.30408409C>G	ENSP00000384651:p.Leu392Val					MTMR3_ENST00000406629.1_Missense_Mutation_p.L392V|MTMR3_ENST00000401950.2_Missense_Mutation_p.L392V|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.L392V|MTMR3_ENST00000323630.5_Missense_Mutation_p.L256V	p.L392V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1502	+			392			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1174C>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961809	0.74016	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	5.84	1.29	0.21616	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	D	0.97763	0.9266	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.997	D;D;D	0.73380	0.98;0.918;0.98	D	0.96792	0.9583	10	0.87932	D	0	.	9.389	0.38361	0.0:0.6979:0.0:0.3021	.	392;392;392	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	V	392;392;256;392;392	ENSP00000384651:L392V;ENSP00000331649:L392V;ENSP00000318070:L256V;ENSP00000307271:L392V;ENSP00000384077:L392V	ENSP00000318070:L256V	L	+	1	2	MTMR3	28738409	0.987000	0.35691	0.994000	0.49952	0.996000	0.88848	1.520000	0.35899	0.064000	0.16427	0.650000	0.86243	CTG		0.473	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		10	314	0	0	0	1	0	10	314				
TMEM252	169693	broad.mit.edu	37	9	71155571	71155571	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr9:71155571G>C	ENST00000377311.3	-	1	212	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V	RP11-274B18.4_ENST00000413269.3_lincRNA|RP11-274B18.2_ENST00000432148.1_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	54						integral component of membrane (GO:0016021)											CCACTCAGAAGGATCACAAAC	0.552																																						ENST00000377311.3																			0											c.(160-162)Ctt>Gtt		transmembrane protein 252							69.0	62.0	65.0					9																	71155571		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71155571G>C	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.160C>G	9.37:g.71155571G>C	ENSP00000366528:p.Leu54Val						p.L54V	NM_153237.1	NP_694969.1					1	212	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.160C>G	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929899	0.73327	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	5.13	0.70059	.	0.073883	0.56097	D	0.000024	T	0.76786	0.4036	M	0.71581	2.175	0.39015	D	0.959624	D	0.76494	0.999	D	0.66847	0.947	T	0.81373	-0.0962	9	0.87932	D	0	-17.3543	14.3314	0.66559	0.072:0.0:0.928:0.0	.	54	Q8N6L7	CI071_HUMAN	V	54	.	ENSP00000366528:L54V	L	-	1	0	C9orf71	70345391	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.457000	0.53007	1.559000	0.49555	0.655000	0.94253	CTT		0.552	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		4	55	0	0	0	1	0	4	55				
SI	6476	broad.mit.edu	37	3	164758883	164758883	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr3:164758883C>T	ENST00000264382.3	-	18	2067		c.e18-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATCCTGATGCTGTGAGATAG	0.318										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e18-1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						89.0	94.0	92.0					3																	164758883		2202	4300	6502	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758883C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2005-1G>A	3.37:g.164758883C>T		HNSCC(35;0.089)						NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			18	2067	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37		CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858400	0.71834	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.75	0.69519	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166241577	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.807000	0.75201	2.586000	0.87340	0.549000	0.68633	.		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	8	110	0	0	0	1	0	8	110				
POMZP3	22932	broad.mit.edu	37	7	76254844	76254844	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:76254844T>G	ENST00000310842.4	-	3	906	c.222A>C	c.(220-222)aaA>aaC	p.K74N	POMZP3_ENST00000275569.4_Missense_Mutation_p.K74N|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	74										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GTTACCTTCTTTTATTTTCCT	0.463																																						ENST00000310842.4																			0				kidney(3)|lung(2)	5						c.(220-222)aaA>aaC		POM121 and ZP3 fusion							153.0	138.0	143.0					7																	76254844		2203	4298	6501	SO:0001583	missense	22932							g.chr7:76254844T>G	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.222A>C	7.37:g.76254844T>G	ENSP00000309233:p.Lys74Asn					UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.K74N	p.K74N	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN			3	906	-		Myeloproliferative disorder(862;0.204)	74					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.222A>C	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	t	14.85	2.657622	0.47467	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.39592	1.76;1.07	0.694	0.694	0.18062	.	1.160520	0.06364	U	0.712236	T	0.16727	0.0402	N	0.01576	-0.805	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.18777	-1.0326	10	0.72032	D	0.01	.	3.7847	0.08695	0.0:0.0:0.0:1.0	.	74	Q6PJE2	POZP3_HUMAN	N	74	ENSP00000309233:K74N;ENSP00000405319:K74N	ENSP00000275569:K74N	K	-	3	2	POMZP3	76092780	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	0.212000	0.17497	0.576000	0.29452	0.386000	0.25728	AAA		0.463	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		11	358	0	0	0	1	0	11	358				
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1492-1494)tcC>tcT		mitogen-activated protein kinase kinase kinase 10							81.0	91.0	88.0					19																	40715068		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715068C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1494C>T	19.37:g.40715068C>T							p.S498S	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			6	1782	+			498					Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1494C>T	CCDS12549.1																																																																																				0.562	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		6	107	0	0	0	1	0	6	107				
MIR518F	574472	broad.mit.edu	37	19	54203346	54203346	+	RNA	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:54203346C>T	ENST00000384973.1	+	0	78				MIR525_ENST00000384978.1_RNA|MIR520B_ENST00000384989.1_RNA|MIR523_ENST00000385281.1_RNA|MIR518B_ENST00000385127.1_RNA	NR_030194.1				microRNA 518f																		TAGAGGATTACTCTTTGAGAA	0.398																																						ENST00000384973.1																			0																				73.0	73.0	73.0					19																	54203346		1568	3582	5150			574472							g.chr19:54203346C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54203346C>T								NR_030194.1						0	78	+									RNA	SNP	ENST00000384973.1	37																																																																																						0.398	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		10	101	0	0	0	1	0	10	101				
OMP	4975	broad.mit.edu	37	11	76814248	76814248	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr11:76814248C>T	ENST00000529803.1	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	121					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ATGAGGCCGACGCCCTGGAGT	0.617																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(361-363)gaC>gaT		olfactory marker protein							54.0	62.0	59.0					11																	76814248		2079	4177	6256	SO:0001819	synonymous_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76814248C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.363C>T	11.37:g.76814248C>T						CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	p.D121D	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	363	+			121					Q562G2	Silent	SNP	ENST00000529803.1	37	c.363C>T	CCDS53682.1																																																																																				0.617	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		7	70	0	0	0	1	0	7	70				
AKAP6	9472	broad.mit.edu	37	14	33243055	33243055	+	Missense_Mutation	SNP	G	G	A	rs374551617		TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr14:33243055G>A	ENST00000280979.4	+	12	3714	c.3544G>A	c.(3544-3546)Gtc>Atc	p.V1182I	AKAP6_ENST00000557272.1_Missense_Mutation_p.V1182I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1182					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATGCAAGCCGTCCAGTGGCA	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3544-3546)Gtc>Atc		A kinase (PRKA) anchor protein 6		G	ILE/VAL	0,4406		0,0,2203	73.0	69.0	71.0		3544	5.3	1.0	14		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	AKAP6	NM_004274.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1182/2320	33243055	1,13005	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33243055G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3544G>A	14.37:g.33243055G>A	ENSP00000280979:p.Val1182Ile					AKAP6_ENST00000557272.1_Missense_Mutation_p.V1182I	p.V1182I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	12	3714	+	Breast(36;0.0388)|Prostate(35;0.15)		1182					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3544G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558584	0.65538	0.0	1.16E-4	ENSG00000151320	ENST00000280979;ENST00000557272	T;T	0.34472	1.36;1.36	5.28	5.28	0.74379	.	0.307523	0.31624	N	0.007325	T	0.23727	0.0574	N	0.11427	0.14	0.33541	D	0.594937	D	0.63046	0.992	P	0.44518	0.452	T	0.32455	-0.9906	10	0.54805	T	0.06	-4.4189	12.6082	0.56535	0.0763:0.0:0.9237:0.0	.	1182	Q13023	AKAP6_HUMAN	I	1182	ENSP00000280979:V1182I;ENSP00000451247:V1182I	ENSP00000280979:V1182I	V	+	1	0	AKAP6	32312806	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	4.073000	0.57570	2.639000	0.89480	0.591000	0.81541	GTC		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	60	0	0	0	1	0	8	60				
GCM2	9247	broad.mit.edu	37	6	10877387	10877387	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:10877387C>T	ENST00000379491.4	-	2	476	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability). {ECO:0000269|PubMed:20190276, ECO:0000269|Ref.3}.		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGTTTCAGCCGTGCCTTGTC	0.562																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(328-330)cGg>cAg		glial cells missing homolog 2 (Drosophila)							82.0	78.0	79.0					6																	10877387		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877387C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.329G>A	6.37:g.10877387C>T	ENSP00000368805:p.Arg110Gln					RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.R110Q	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			2	476	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	110		R -> W (in FIH; abolishes DNA binding ability).			D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.329G>A	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341139	0.95783	.	.	ENSG00000124827	ENST00000379491	T	0.80480	-1.38	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89693	0.3899	10	0.87932	D	0	-21.0508	19.8215	0.96599	0.0:1.0:0.0:0.0	.	110	O75603	GCM2_HUMAN	Q	110	ENSP00000368805:R110Q	ENSP00000368805:R110Q	R	-	2	0	GCM2	10985373	0.995000	0.38212	0.069000	0.20011	0.869000	0.49853	7.570000	0.82390	2.679000	0.91253	0.650000	0.86243	CGG		0.562	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			5	101	0	0	0	1	0	5	101				
PCDHGC4	56098	broad.mit.edu	37	5	140866238	140866238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr5:140866238C>T	ENST00000306593.1	+	1	1498	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGAATCGAGATGTATC	0.527																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1498-1500)Cga>Tga									108.0	110.0	109.0					5																	140866238		2203	4300	6503	SO:0001587	stop_gained	56098							g.chr5:140866238C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1498C>T	5.37:g.140866238C>T	ENSP00000306918:p.Arg500*					PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.R500*	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1498	+								Q495T2|Q9Y5C3	Nonsense_Mutation	SNP	ENST00000306593.1	37	c.1498C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448212	0.84101	.	.	ENSG00000242419	ENST00000306593	.	.	.	5.41	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.3742	0.16156	0.138:0.5217:0.2672:0.0731	.	.	.	.	X	500	.	ENSP00000306918:R500X	R	+	1	2	PCDHGC4	140846422	0.071000	0.21146	0.999000	0.59377	0.740000	0.42216	0.567000	0.23608	0.616000	0.30141	0.467000	0.42956	CGA		0.527	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	158	0	0	0	1	0	11	158				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	47	0	0	0	1	0	5	47				
FZD8	8325	broad.mit.edu	37	10	35929680	35929680	+	Silent	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:35929680A>G	ENST00000374694.1	-	1	682	c.678T>C	c.(676-678)gcT>gcC	p.A226A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	226					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCAGGGAGCCGCGCCGC	0.791																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(676-678)gcT>gcC		frizzled family receptor 8							6.0	8.0	7.0					10																	35929680		1874	3849	5723	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929680A>G	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.678T>C	10.37:g.35929680A>G							p.A226A	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	682	-			226						Silent	SNP	ENST00000374694.1	37	c.678T>C	CCDS7192.1																																																																																				0.791	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	11	0	0	0	1	0	3	11				
GRK1	6011	broad.mit.edu	37	13	114322035	114322035	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr13:114322035G>A	ENST00000335678.6	+	1	566	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	112	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GACCATCCTGGCCCAGTACCT	0.602																																						ENST00000335678.6																			0				ovary(2)	2						c.(334-336)Gcc>Acc		G protein-coupled receptor kinase 1							43.0	48.0	47.0					13																	114322035		2008	4167	6175	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114322035G>A			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.334G>A	13.37:g.114322035G>A	ENSP00000334876:p.Ala112Thr						p.A112T	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		1	566	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	112			N-terminal.|RGS.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.334G>A		.	.	.	.	.	.	.	.	.	.	G	5.465	0.270883	0.10349	.	.	ENSG00000185974	ENST00000335678	T	0.02301	4.35	5.25	4.4	0.53042	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.455332	0.25109	N	0.033065	T	0.01387	0.0045	.	.	.	0.27887	N	0.939453	P	0.38300	0.626	B	0.31290	0.127	T	0.48625	-0.9019	9	0.16896	T	0.51	-19.6286	7.9573	0.30051	0.1832:0.0:0.8168:0.0	.	112	Q15835	RK_HUMAN	T	112	ENSP00000334876:A112T	ENSP00000334876:A112T	A	+	1	0	GRK1	113370036	0.928000	0.31464	0.989000	0.46669	0.635000	0.38103	0.950000	0.29122	1.207000	0.43291	0.561000	0.74099	GCC		0.602	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		14	49	0	0	0	1	0	14	49				
DUOX2	50506	broad.mit.edu	37	15	45391947	45391947	+	Nonsense_Mutation	SNP	G	G	A	rs531536885		TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr15:45391947G>A	ENST00000603300.1	-	25	3530	c.3328C>T	c.(3328-3330)Cga>Tga	p.R1110*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.R1110*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1110	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AAAGTCTCTCGCAGGAAGGTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		22469	0.0		0.0	False		,,,				2504	0.001					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3328-3330)Cga>Tga		dual oxidase 2							129.0	117.0	121.0					15																	45391947		2198	4298	6496	SO:0001587	stop_gained	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45391947G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3328C>T	15.37:g.45391947G>A	ENSP00000475084:p.Arg1110*					DUOX2_ENST00000603300.1_Nonsense_Mutation_p.R1110*	p.R1110*			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	25	3713	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1110			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	c.3328C>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	45	11.371985	0.99553	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.6	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4803	14.718	0.69284	0.0:0.0:0.8478:0.1522	.	.	.	.	X	1110	.	ENSP00000373691:R1110X	R	-	1	2	DUOX2	43179239	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.569000	0.53827	1.349000	0.45751	0.563000	0.77884	CGA		0.572	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		7	97	0	0	0	1	0	7	97				
LOC401127	401127	broad.mit.edu	37	4	39482384	39482384	+	RNA	SNP	A	A	G	rs10009841	byFrequency	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr4:39482384A>G	ENST00000513652.1	+	0	412																											GTCAGATTCTAACCTTTTTGT	0.438													A|||	293	0.0585064	0.143	0.0403	5008	,	,		21648	0.0		0.0706	False		,,,				2504	0.0051					ENST00000513652.1																			0																																																			401127							g.chr4:39482384A>G																													4.37:g.39482384A>G														0	412	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.438	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			4	59	0	0	0	1	0	4	59				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	48	0	0	0	1	0	5	48				
FZD9	8326	broad.mit.edu	37	7	72849938	72849938	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:72849938T>C	ENST00000344575.3	+	1	1830	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	534					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCAAGACTTTCCAGACCTGG	0.662																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1600-1602)tTc>tCc		frizzled family receptor 9							37.0	43.0	41.0					7																	72849938		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849938T>C	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1601T>C	7.37:g.72849938T>C	ENSP00000345785:p.Phe534Ser						p.F534S	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1830	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	534						Missense_Mutation	SNP	ENST00000344575.3	37	c.1601T>C	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617307	0.46736	.	.	ENSG00000188763	ENST00000344575	D	0.81908	-1.55	5.25	4.08	0.47627	GPCR, family 2-like (1);	0.081041	0.51477	U	0.000092	T	0.78349	0.4269	L	0.34521	1.04	0.39430	D	0.967063	B	0.33883	0.43	B	0.40602	0.334	T	0.78349	-0.2238	10	0.87932	D	0	.	11.5202	0.50546	0.0:0.0:0.1504:0.8496	.	534	O00144	FZD9_HUMAN	S	534	ENSP00000345785:F534S	ENSP00000345785:F534S	F	+	2	0	FZD9	72487874	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.290000	0.72712	0.815000	0.34398	-0.313000	0.08912	TTC		0.662	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			6	79	0	0	0	1	0	6	79				
MUC17	140453	broad.mit.edu	37	7	100677606	100677606	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:100677606G>T	ENST00000306151.4	+	3	2973	c.2909G>T	c.(2908-2910)gGt>gTt	p.G970V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	970	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTACCAGCATA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2908-2910)gGt>gTt		mucin 17, cell surface associated							347.0	323.0	331.0					7																	100677606		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677606G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2909G>T	7.37:g.100677606G>T	ENSP00000302716:p.Gly970Val						p.G970V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2973	+	Lung NSC(181;0.136)|all_lung(186;0.182)		970			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2909G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.794651	0.00617	.	.	ENSG00000169876	ENST00000306151	T	0.03607	3.87	1.08	-2.17	0.07059	.	.	.	.	.	T	0.01976	0.0062	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43556	-0.9384	9	0.25751	T	0.34	.	3.1768	0.06571	0.2552:0.0:0.2595:0.4853	.	970	Q685J3	MUC17_HUMAN	V	970	ENSP00000302716:G970V	ENSP00000302716:G970V	G	+	2	0	MUC17	100464326	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.806000	0.00758	-2.587000	0.00458	-1.550000	0.00899	GGT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		17	477	1	0	1.5739e-10	1	1.6471e-10	17	477				
PSG8	440533	broad.mit.edu	37	19	43359859	43359859	+	5'Flank	SNP	T	T	G	rs10469289	byFrequency	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:43359859T>G	ENST00000401467.2	-	0	0				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGCTGTCCTTCCTCCTTCTG	0.592													.|||	537	0.107228	0.0809	0.2205	5008	,	,		17090	0.003		0.1501	False		,,,				2504	0.1258					ENST00000597171.1																			0																																																	SO:0001631	upstream_gene_variant	653492							g.chr19:43359859T>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118		19.37:g.43359859T>G	Exception_encountered							NR_026824.1						0	11	-								A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	ENST00000401467.2	37																																																																																						0.592	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1			4	69	0	0	0	1	0	4	69				
UQCR10	29796	broad.mit.edu	37	22	30163555	30163555	+	Intron	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr22:30163555C>T	ENST00000330029.6	+	1	180				ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Silent_p.I56I	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CCTGTGCCATCCCTGACCTTG	0.592																																						ENST00000401406.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(166-168)atC>atT		ubiquinol-cytochrome c reductase, complex III subunit X							30.0	33.0	32.0					22																	30163555		1971	4143	6114	SO:0001627	intron_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163555C>T	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.150+18C>T	22.37:g.30163555C>T						UQCR10_ENST00000330029.6_Intron	p.I56I			Q9UDW1	QCR9_HUMAN			1	193	+			0					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.168C>T	CCDS46680.1																																																																																				0.592	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		5	29	0	0	0	1	0	5	29				
MOG	4340	broad.mit.edu	37	6	29640669	29640669	+	IGR	SNP	G	G	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:29640669G>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.L387I|ZFP57_ENST00000376883.1_Missense_Mutation_p.L387I|ZFP57_ENST00000488757.1_Missense_Mutation_p.L407I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGCTCTGTGAGGTGGGCCTTC	0.502																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(1159-1161)Ctc>Atc		ZFP57 zinc finger protein							254.0	277.0	269.0					6																	29640669		1289	2577	3866	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640669G>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640669G>T						ZFP57_ENST00000376881.3_Missense_Mutation_p.L387I|ZFP57_ENST00000488757.1_Missense_Mutation_p.L407I	p.L387I			Q9NU63	ZFP57_HUMAN			6	1570	-			323					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1159C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670041	0.29693	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.28666	1.6;1.6;1.6	4.83	-5.37	0.02681	.	1.275570	0.05817	N	0.615040	T	0.06462	0.0166	L	0.37630	1.12	0.19300	N	0.999978	B;B	0.23806	0.091;0.091	B;B	0.20955	0.032;0.018	T	0.34551	-0.9824	10	0.72032	D	0.01	-2.4997	0.018	0.00002	0.3024:0.213:0.1844:0.3002	.	407;387	Q9NU63-3;Q9NU63-2	.;.	I	407;387;387	ENSP00000418259:L407I;ENSP00000366078:L387I;ENSP00000366080:L387I	ENSP00000366078:L387I	L	-	1	0	ZFP57	29748648	0.451000	0.25705	0.031000	0.17742	0.041000	0.13682	0.025000	0.13577	-0.802000	0.04421	0.563000	0.77884	CTC		0.502	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		31	380	1	0	1.06801e-11	1	1.1443e-11	31	380				
IQGAP3	128239	broad.mit.edu	37	1	156542309	156542309	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:156542309C>T	ENST00000361170.2	-	1	23	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	5					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCCGCTGCTCTCCTCTCC	0.662																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(13-15)Gca>Aca		IQ motif containing GTPase activating protein 3							129.0	137.0	135.0					1																	156542309		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156542309C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.13G>A	1.37:g.156542309C>T	ENSP00000354451:p.Ala5Thr						p.A5T	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			1	23	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		5					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.13G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437406	0.43224	.	.	ENSG00000183856	ENST00000361170	T	0.02446	4.29	4.03	-1.9	0.07665	.	1.183380	0.06226	N	0.687702	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47497	-0.9113	10	0.25751	T	0.34	6.3119	4.2738	0.10799	0.0:0.3606:0.175:0.4644	.	5	Q86VI3	IQGA3_HUMAN	T	5	ENSP00000354451:A5T	ENSP00000354451:A5T	A	-	1	0	IQGAP3	154808933	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.079000	0.11357	-0.011000	0.14247	0.563000	0.77884	GCA		0.662	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		10	231	0	0	0	1	0	10	231				
ZNF616	90317	broad.mit.edu	37	19	52619793	52619793	+	Silent	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:52619793A>G	ENST00000600228.1	-	4	885	c.624T>C	c.(622-624)acT>acC	p.T208T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTTTCTCTGTAGTATGTATCC	0.398																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(622-624)acT>acC		zinc finger protein 616							147.0	143.0	144.0					19																	52619793		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619793A>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.624T>C	19.37:g.52619793A>G						ZNF616_ENST00000330123.5_3'UTR	p.T208T	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	885	-			208					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.624T>C	CCDS33090.1																																																																																				0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		7	162	0	0	0	1	0	7	162				
SLC46A3	283537	broad.mit.edu	37	13	29287531	29287531	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr13:29287531C>T	ENST00000266943.6	-	3	715	c.346G>A	c.(346-348)Gtt>Att	p.V116I	SLC46A3_ENST00000380814.4_Missense_Mutation_p.V116I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	116					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGCCAAACGCTGGTTGCA	0.413																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(346-348)Gtt>Att		solute carrier family 46, member 3							69.0	63.0	65.0					13																	29287531		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29287531C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.346G>A	13.37:g.29287531C>T	ENSP00000266943:p.Val116Ile					SLC46A3_ENST00000380814.4_Missense_Mutation_p.V116I	p.V116I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	715	-		Lung SC(185;0.0367)	116					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.346G>A	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637504	0.14386	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80304	-1.36;-1.36	6.17	-11.4	0.00090	Major facilitator superfamily domain, general substrate transporter (1);	1.732370	0.02293	N	0.070477	T	0.57446	0.2054	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.24882	0.113;0.001;0.001	B;B;B	0.17722	0.019;0.001;0.001	T	0.49634	-0.8919	10	0.15066	T	0.55	-0.6521	14.4196	0.67175	0.0:0.1423:0.0674:0.7903	.	41;116;116	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	I	116	ENSP00000266943:V116I;ENSP00000370192:V116I	ENSP00000266943:V116I	V	-	1	0	SLC46A3	28185531	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	-3.081000	0.00613	-2.383000	0.00592	-0.345000	0.07892	GTT		0.413	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		6	64	0	0	0	1	0	6	64				
MARCH4	57574	broad.mit.edu	37	2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:217234886C>T	ENST00000273067.4	-	1	1864	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	33						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(97-99)cGc>cAc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							17.0	20.0	19.0					2																	217234886		2201	4296	6497	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234886C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.98G>A	2.37:g.217234886C>T	ENSP00000273067:p.Arg33His						p.R33H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1864	-		Renal(323;0.0854)	33					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.98G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683169	0.68157	.	.	ENSG00000144583	ENST00000273067	T	0.21191	2.02	5.24	3.46	0.39613	.	0.478369	0.24472	N	0.038224	T	0.15609	0.0376	L	0.29908	0.895	0.50813	D	0.999898	B	0.12013	0.005	B	0.09377	0.004	T	0.04242	-1.0966	10	0.87932	D	0	-19.621	9.9721	0.41761	0.0:0.7738:0.0:0.2262	.	33	Q9P2E8	MARH4_HUMAN	H	33	ENSP00000273067:R33H	ENSP00000273067:R33H	R	-	2	0	MARCH4	216943131	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.162000	0.58177	0.799000	0.34018	-0.229000	0.12294	CGC		0.632	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		3	9	0	0	0	1	0	3	9				
THOC2	57187	broad.mit.edu	37	X	122759892	122759892	+	Silent	SNP	T	T	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chrX:122759892T>C	ENST00000245838.8	-	25	2959	c.2928A>G	c.(2926-2928)aaA>aaG	p.K976K	THOC2_ENST00000491737.1_Silent_p.K861K|THOC2_ENST00000355725.4_Silent_p.K976K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	976					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTGTAGAAATTTTGTGATGG	0.343																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2926-2928)aaA>aaG		THO complex 2							76.0	64.0	68.0					X																	122759892		1799	4067	5866	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122759892T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2928A>G	X.37:g.122759892T>C						THOC2_ENST00000491737.1_Silent_p.K861K|THOC2_ENST00000355725.4_Silent_p.K976K	p.K976K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			25	2959	-			976					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.2928A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	7.936	0.741713	0.15642	.	.	ENSG00000125676	ENST00000438358	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.63663	0.2530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63028	-0.6728	4	.	.	.	-17.8901	11.138	0.48386	0.0:0.0744:0.0:0.9256	.	.	.	.	V	49	.	.	I	-	1	0	THOC2	122587573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	1.965000	0.57142	0.486000	0.48141	ATT		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			7	57	0	0	0	1	0	7	57				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	36	0	0	0	1	0	5	36				
PTCHD2	57540	broad.mit.edu	37	1	11561829	11561829	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:11561829C>T	ENST00000294484.6	+	2	918	c.780C>T	c.(778-780)cgC>cgT	p.R260R	PTCHD2_ENST00000389575.3_Silent_p.R260R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	260					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTACTCGCGCGCCTATGTGA	0.682																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(778-780)cgC>cgT		patched domain containing 2							10.0	11.0	11.0					1																	11561829		1969	4128	6097	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561829C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.780C>T	1.37:g.11561829C>T						PTCHD2_ENST00000389575.3_Silent_p.R260R	p.R260R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	918	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	260					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.780C>T	CCDS41247.1																																																																																				0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		3	18	0	0	0	1	0	3	18				
ALOX5	240	broad.mit.edu	37	10	45924084	45924084	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:45924084G>A	ENST00000374391.2	+	7	906	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ALOX5_ENST00000542434.1_Missense_Mutation_p.V285M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	285	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CATTTTCATCGTGGACTTTGA	0.532																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(853-855)Gtg>Atg		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						90.0	80.0	84.0					10																	45924084		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45924084G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.853G>A	10.37:g.45924084G>A	ENSP00000363512:p.Val285Met					ALOX5_ENST00000542434.1_Missense_Mutation_p.V285M	p.V285M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			7	906	+		Lung SC(717;0.0257)	285			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.853G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524658	0.85600	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.77877	-1.13;-1.13	5.28	5.28	0.74379	Lipoxygenase, C-terminal (3);	0.186274	0.45867	D	0.000337	D	0.86581	0.5967	M	0.69523	2.12	0.52501	D	0.99995	D;D;D	0.89917	0.999;0.996;1.0	D;P;P	0.66602	0.945;0.803;0.892	D	0.87931	0.2710	10	0.72032	D	0.01	-25.7592	16.4137	0.83727	0.0:0.0:1.0:0.0	.	285;285;285	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	M	285	ENSP00000437634:V285M;ENSP00000363512:V285M	ENSP00000363512:V285M	V	+	1	0	ALOX5	45244090	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	9.798000	0.99111	2.470000	0.83445	0.655000	0.94253	GTG		0.532	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			4	45	0	0	0	1	0	4	45				
DOCK5	80005	broad.mit.edu	37	8	25203031	25203031	+	Silent	SNP	C	C	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr8:25203031C>A	ENST00000276440.7	+	26	2702	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	886					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGACCAGCTCAGCGGCCAGT	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2656-2658)ctC>ctA		dedicator of cytokinesis 5							128.0	111.0	117.0					8																	25203031		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25203031C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2658C>A	8.37:g.25203031C>A							p.L886L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	26	2702	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	886					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2658C>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077445	0.20227	.	.	ENSG00000147459	ENST00000444569	.	.	.	6.17	4.36	0.52297	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50825	-0.8782	4	.	.	.	.	4.8892	0.13719	0.2364:0.4435:0.2533:0.0669	.	.	.	.	K	658	.	.	Q	+	1	0	DOCK5	25258948	0.909000	0.30893	1.000000	0.80357	0.981000	0.71138	-0.033000	0.12246	0.894000	0.36317	0.655000	0.94253	CAG		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	138	1	0	2.7689e-08	1	2.83183e-08	6	138				
DBT	1629	broad.mit.edu	37	1	100684276	100684276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:100684276G>A	ENST00000370132.4	-	5	474	c.461C>T	c.(460-462)cCt>cTt	p.P154L	DBT_ENST00000370131.3_Missense_Mutation_p.P154L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	154					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGACACTGCAGGAGTTTCAAC	0.373																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(460-462)cCt>cTt		dihydrolipoamide branched chain transacylase E2							150.0	148.0	149.0					1																	100684276		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100684276G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.461C>T	1.37:g.100684276G>A	ENSP00000359151:p.Pro154Leu					DBT_ENST00000370131.3_Missense_Mutation_p.P154L	p.P154L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	474	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	154					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.461C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919270	0.73098	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.39229	1.21;1.09	5.85	5.85	0.93711	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	N	0.08118	0	0.80722	D	1	P	0.39022	0.655	B	0.42495	0.389	T	0.23368	-1.0190	10	0.66056	D	0.02	-10.8476	20.1612	0.98133	0.0:0.0:1.0:0.0	.	154	P11182	ODB2_HUMAN	L	154	ENSP00000359151:P154L;ENSP00000359150:P154L	ENSP00000359150:P154L	P	-	2	0	DBT	100456864	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	9.016000	0.93645	2.766000	0.95052	0.643000	0.83706	CCT		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		8	171	0	0	0	1	0	8	171				
ANKAR	150709	broad.mit.edu	37	2	190584538	190584538	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:190584538A>G	ENST00000520309.1	+	11	2553	c.2465A>G	c.(2464-2466)tAt>tGt	p.Y822C	ANKAR_ENST00000281412.6_Splice_Site_p.Y586C|ANKAR_ENST00000431575.2_Splice_Site_p.Y751C|ANKAR_ENST00000313581.4_Splice_Site_p.Y822C|ANKAR_ENST00000438402.2_Splice_Site_p.Y822C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	822						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTGCCAAATATGTAAGTTCC	0.343																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.e11+1		ankyrin and armadillo repeat containing							85.0	74.0	78.0					2																	190584538		2203	4300	6503	SO:0001630	splice_region_variant	150709					integral to membrane	binding	g.chr2:190584538A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2466+1A>G	2.37:g.190584538A>G						ANKAR_ENST00000438402.2_Splice_Site_p.Y822_splice|ANKAR_ENST00000431575.2_Splice_Site_p.Y751_splice|ANKAR_ENST00000313581.4_Splice_Site_p.Y822_splice|ANKAR_ENST00000281412.6_Splice_Site_p.Y586_splice	p.Y822_splice	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		11	2553	+			822					Q3ZCS6|Q4G0M2|Q6ZU02	Splice_Site	SNP	ENST00000520309.1	37	c.2466_splice	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283030	0.23392	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.78	2.34	0.29019	.	0.843346	0.10401	N	0.679203	T	0.18676	0.0448	N	0.19112	0.55	0.27882	N	0.939645	.	.	.	.	.	.	T	0.26677	-1.0096	8	0.38643	T	0.18	-2.1858	2.7499	0.05277	0.6219:0.1512:0.0815:0.1454	.	.	.	.	C	822;822;822;751;586	ENSP00000427882:Y822C;ENSP00000313513:Y822C;ENSP00000397243:Y822C;ENSP00000393043:Y751C;ENSP00000281412:Y586C	ENSP00000281412:Y586C	Y	+	2	0	ANKAR	190292783	0.150000	0.22732	0.795000	0.32087	0.293000	0.27360	0.701000	0.25616	0.392000	0.25172	-0.313000	0.08912	TAT		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	Missense_Mutation	4	41	0	0	0	1	0	4	41				
MTHFD1L	25902	broad.mit.edu	37	6	151336665	151336665	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:151336665G>A	ENST00000367321.3	+	24	2696	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	808	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGACACCCGCGCTGAGATTGA	0.473																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2422-2424)Gct>Act		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							166.0	149.0	155.0					6																	151336665		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151336665G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2422G>A	6.37:g.151336665G>A	ENSP00000356290:p.Ala808Thr						p.A808T	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	24	2696	+		Ovarian(120;0.128)	808			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2422G>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190005	0.94923	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.24538	1.85;1.85	5.98	5.98	0.97165	.	0.048523	0.85682	D	0.000000	T	0.54431	0.1858	M	0.87328	2.875	0.80722	D	1	D;P;D	0.89917	1.0;0.725;1.0	D;B;D	0.91635	0.995;0.379;0.999	T	0.59461	-0.7450	10	0.72032	D	0.01	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	809;563;808	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	808;39	ENSP00000356290:A808T;ENSP00000395158:A39T	ENSP00000356290:A808T	A	+	1	0	MTHFD1L	151378358	1.000000	0.71417	0.260000	0.24451	0.928000	0.56348	9.312000	0.96287	2.843000	0.97960	0.585000	0.79938	GCT		0.473	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		9	124	0	0	0	1	0	9	124				
SCN8A	6334	broad.mit.edu	37	12	52145365	52145365	+	Silent	SNP	T	T	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr12:52145365T>A	ENST00000354534.6	+	14	2536	c.2358T>A	c.(2356-2358)gcT>gcA	p.A786A	SCN8A_ENST00000550891.1_Silent_p.A786A|SCN8A_ENST00000545061.1_Silent_p.A786A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	786					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATGTCTTGGCTGTAGGAAATC	0.423																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2356-2358)gcT>gcA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						119.0	109.0	112.0					12																	52145365		2010	4195	6205	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145365T>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2358T>A	12.37:g.52145365T>A						SCN8A_ENST00000545061.1_Silent_p.A786A|SCN8A_ENST00000550891.1_Silent_p.A786A	p.A786A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2536	+			786					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.2358T>A	CCDS44891.1																																																																																				0.423	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		10	67	0	0	0	1	0	10	67				
NEUROD1	4760	broad.mit.edu	37	2	182543278	182543278	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:182543278T>G	ENST00000295108.3	-	2	767	c.310A>C	c.(310-312)Atg>Ctg	p.M104L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTAGCCTTCATGCGTCTCAAT	0.547																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(310-312)Atg>Ctg		neuronal differentiation 1							114.0	101.0	105.0					2																	182543278		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543278T>G	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.310A>C	2.37:g.182543278T>G	ENSP00000295108:p.Met104Leu					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.M104L	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	767	-			104					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.310A>C	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175110	0.57692	.	.	ENSG00000162992	ENST00000295108	D	0.97811	-4.55	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	N	0.01289	-0.905	0.58432	D	0.999999	B	0.06786	0.001	B	0.17098	0.017	D	0.87457	0.2405	10	0.41790	T	0.15	-27.6168	15.6301	0.76899	0.0:0.0:0.0:1.0	.	104	Q13562	NDF1_HUMAN	L	104	ENSP00000295108:M104L	ENSP00000295108:M104L	M	-	1	0	NEUROD1	182251523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.702000	0.37836	2.367000	0.80283	0.528000	0.53228	ATG		0.547	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		5	69	0	0	0	1	0	5	69				
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	lincRNA	DEL	AC	AC	-	rs371668571		TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475																																						ENST00000507444.1																			0																																																			401172							g.chr5:6337066_6337067delAC																													5.37:g.6337076_6337077delAC								NR_028351.1						0	143	-									RNA	DEL	ENST00000507444.1	37																																																																																						0.475	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			3	6						3	6	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		7	213						7	213	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579703	7579703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr17:7579703delA	ENST00000269305.4	-	3	282	c.93delT	c.(91-93)gttfs	p.V31fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V31fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	31	Interaction with HRMT1L2.|Transcription activation (acidic).		V -> I (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCTTACCAGAACGTTGTTTT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		10	Whole gene deletion(8)|Deletion - Frameshift(2)	p.0?(8)|p.P13fs*18(1)|p.L26fs*11(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(91-93)gtfs	Other conserved DNA damage response genes	tumor protein p53							42.0	43.0	42.0					17																	7579703		2202	4299	6501	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579703delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.93delT	17.37:g.7579703delA	ENSP00000269305:p.Val31fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V31fs	p.V31fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	225	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	31		V -> I (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.93delT	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	92						10	92	---	---	---	---
CBX3P2	645158	broad.mit.edu	37	18	2652677	2652678	+	RNA	DEL	AC	AC	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr18:2652677_2652678delAC	ENST00000579647.1	-	0	919_920				RNU6-340P_ENST00000364005.1_RNA	NR_033754.2				chromobox homolog 3 pseudogene 2																		CCTAGGTTTTACACACACACAC	0.342																																						ENST00000579647.1																			0																																																			645158							g.chr18:2652677_2652678delAC			18p11.32	2011-09-05				ENSG00000266405			42874	pseudogene	pseudogene							Standard	NR_033754		Approved		uc021ugl.1				18.37:g.2652687_2652688delAC								NR_033754.2						0	919_920	-									RNA	DEL	ENST00000579647.1	37																																																																																						0.342	CBX3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441602.1			3	6						3	6	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	42						7	42	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs113850871|rs144853314|rs10643219	byFrequency	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748														2999	0.598842	0.8986	0.572	5008	,	,		6768	0.2688		0.5169	False		,,,				2504	0.637					ENST00000325421.4																			1	Insertion - In frame(1)	p.G366_Q367insG(1)	upper_aerodigestive_tract(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)gca>gCGGca		zinc finger protein 579				1650,390		778,94,148						-1.7	0.9		dbSNP_132	2	2530,2524		968,594,965	no	coding	ZNF579	NM_152600.2		1746,688,1113	A1A1,A1R,RR		49.9406,19.1176,41.077				4180,2914				SO:0001652	inframe_insertion	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089908_56089909insCCG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1097_1098insCGG	19.37:g.56089908_56089909insCCG	ENSP00000320188:p.Gly366dup						p.366_366A>AA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1125_1126	-			366			Gly-rich.			In_Frame_Ins	INS	ENST00000325421.4	37	c.1097_1098insCGG	CCDS12927.1																																																																																				0.748	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		3	4						3	4	---	---	---	---
