#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HFM1	164045	broad.mit.edu	37	1	91859787	91859787	+	Silent	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:91859787G>A	ENST00000370425.3	-	4	455	c.357C>T	c.(355-357)ggC>ggT	p.G119G	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	119					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTCAGCTTGCCAGCAATAT	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(355-357)ggC>ggT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							105.0	100.0	102.0					1																	91859787		2203	4300	6503	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859787G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.357C>T	1.37:g.91859787G>A			Somatic				HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.G119G	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	455	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	119					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.357C>T	CCDS30769.2																																																																																				0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	70	8	70	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155732049	155732049	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:155732049C>T	ENST00000368331.1	-	23	4891	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N	GON4L_ENST00000437809.1_Missense_Mutation_p.D1615N|GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCGAGAATGTCCTCATCATAC	0.552																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4843-4845)Gac>Aac		gon-4-like (C. elegans)							71.0	69.0	69.0					1																	155732049		2022	4180	6202	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155732049C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4843G>A	1.37:g.155732049C>T	ENSP00000357315:p.Asp1615Asn		Somatic				GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N	p.D1615N	NM_001282856.1	NP_001269785.1	WXS	Illumina GAIIx	Phase_I	Q3T8J9	GON4L_HUMAN			23	4965	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1615					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4843G>A		.	.	.	.	.	.	.	.	.	.	C	11.04	1.521621	0.27211	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10668	2.85;2.85;2.85	5.13	4.23	0.50019	.	0.190934	0.45606	N	0.000342	T	0.01661	0.0053	N	0.04508	-0.205	0.34584	D	0.714812	B;B;B	0.21606	0.058;0.003;0.005	B;B;B	0.16722	0.007;0.007;0.016	T	0.41875	-0.9484	10	0.34782	T	0.22	.	8.2895	0.31950	0.0:0.7601:0.0:0.2399	.	811;1615;1615	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	N	1615	ENSP00000396117:D1615N;ENSP00000357315:D1615N;ENSP00000271883:D1615N	ENSP00000271883:D1615N	D	-	1	0	GON4L	153998673	0.895000	0.30542	1.000000	0.80357	0.826000	0.46750	0.701000	0.25616	1.396000	0.46663	0.305000	0.20034	GAC		0.552	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		3	25	3	25	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149192703	149192703	+	Silent	SNP	C	C	G	rs201638815	byFrequency	TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr3:149192703C>G	ENST00000305354.4	+	1	943	c.39C>G	c.(37-39)acC>acG	p.T13T		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	13					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGGGGGGACCCTCATTCCCC	0.527																																						ENST00000305354.4																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9						c.(37-39)acC>acG		transmembrane 4 L six family member 4							72.0	74.0	73.0					3																	149192703		1914	4118	6032	SO:0001819	synonymous_variant	7104					integral to membrane		g.chr3:149192703C>G		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.39C>G	3.37:g.149192703C>G			Somatic					p.T13T	NM_004617.3	NP_004608.1	WXS	Illumina GAIIx	Phase_I	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	943	+			13					B2RDA4	Silent	SNP	ENST00000305354.4	37	c.39C>G	CCDS46932.1																																																																																				0.527	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			3	36	3	36	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39978175	39978175	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr4:39978175T>C	ENST00000303538.8	-	2	562	c.23A>G	c.(22-24)aAg>aGg	p.K8R	PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGGCAGGCTTGGGCTGCGC	0.587											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(22-24)aAg>aGg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							74.0	86.0	82.0					4																	39978175		1984	4153	6137	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39978175T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.23A>G	4.37:g.39978175T>C	ENSP00000303427:p.Lys8Arg		Somatic	OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R	p.K8R	NM_001100399.1	NP_001093869.1	WXS	Illumina GAIIx	Phase_I	Q29RF7	PDS5A_HUMAN			2	562	-			8						Missense_Mutation	SNP	ENST00000303538.8	37	c.23A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396938	0.83120	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	4.0	4.0	0.46444	.	0.708725	0.12033	U	0.505778	T	0.36799	0.0980	N	0.08118	0	0.39811	D	0.972709	B;B	0.13594	0.003;0.008	B;B	0.11329	0.002;0.006	T	0.14868	-1.0457	8	.	.	.	-6.0951	13.1	0.59214	0.0:0.0:0.0:1.0	.	8;8	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	R	8	.	.	K	-	2	0	PDS5A	39654570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.490000	0.60319	1.690000	0.51089	0.482000	0.46254	AAG		0.587	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		6	68	6	68	---	---	---	---
HDAC3	8841	broad.mit.edu	37	5	141005259	141005259	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr5:141005259G>A	ENST00000305264.3	-	13	1131	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	HDAC3_ENST00000469207.1_Intron|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	351					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACCTGGCGTGAGTTCTGATT	0.498																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(1051-1053)tCa>tTa		histone deacetylase 3	Vorinostat(DB02546)						114.0	107.0	109.0					5																	141005259		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005259G>A	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.1052C>T	5.37:g.141005259G>A	ENSP00000302967:p.Ser351Leu		Somatic				AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_Intron	p.S351L	NM_003883.3	NP_003874.2	WXS	Illumina GAIIx	Phase_I	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1131	-			351					D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.1052C>T	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378737	0.95945	.	.	ENSG00000171720	ENST00000305264	T	0.73047	-0.71	5.43	5.43	0.79202	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.85099	2.735	0.80722	D	1	P	0.41624	0.757	B	0.41813	0.367	T	0.82404	-0.0474	10	0.87932	D	0	-7.9809	19.0206	0.92912	0.0:0.0:1.0:0.0	.	351	O15379	HDAC3_HUMAN	L	351	ENSP00000302967:S351L	ENSP00000302967:S351L	S	-	2	0	HDAC3	140985443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.419000	0.97397	2.824000	0.97209	0.655000	0.94253	TCA		0.498	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		7	43	7	43	---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30515194	30515194	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr6:30515194G>A	ENST00000376621.3	-	9	2183	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	405	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGGGGGTAAGAAAG	0.562																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1213-1215)Ccc>Tcc		guanine nucleotide binding protein-like 1							173.0	173.0	173.0					6																	30515194		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30515194G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1213C>T	6.37:g.30515194G>A	ENSP00000365806:p.Pro405Ser		Somatic					p.P405S	NM_005275.3	NP_005266.2	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			9	2183	-			405			G.		B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.1213C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561233	0.45590	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.15139	2.45	5.19	5.19	0.71726	GTP-binding domain, HSR1-related (1);	0.113676	0.64402	D	0.000013	T	0.05686	0.0149	N	0.17901	0.54	0.58432	D	0.999998	B;P;P	0.40398	0.127;0.716;0.716	B;B;B	0.35039	0.173;0.194;0.194	T	0.35475	-0.9787	10	0.25751	T	0.34	-32.1178	17.6326	0.88113	0.0:0.0:1.0:0.0	.	403;202;405	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	S	405;227;202	ENSP00000365806:P405S	ENSP00000365806:P405S	P	-	1	0	GNL1	30623173	1.000000	0.71417	0.907000	0.35723	0.479000	0.33129	6.435000	0.73412	2.698000	0.92095	0.561000	0.74099	CCC		0.562	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			21	197	21	197	---	---	---	---
C9orf9	11092	broad.mit.edu	37	9	135765348	135765348	+	3'UTR	SNP	C	C	T	rs2231412		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr9:135765348C>T	ENST00000372136.3	+	0	2466				C9orf9_ENST00000350499.6_Missense_Mutation_p.T167M|C9orf9_ENST00000356311.5_3'UTR			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9							cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCACAGGGGACGACTTAGCTT	0.448																																						ENST00000350499.6																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(499-501)aCg>aTg		chromosome 9 open reading frame 9		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	337.0	313.0	321.0		500	3.5	1.0	9	dbSNP_98	321	0,8600		0,0,4300	no	missense	C9orf9	NM_018956.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	167/169	135765348	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	11092							g.chr9:135765348C>T		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.*1350C>T	9.37:g.135765348C>T			Somatic				C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR	p.T167M	NM_018956.3	NP_061829.3	WXS	Illumina GAIIx	Phase_I	Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	5	654	+			0					Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37	c.500C>T		.	.	.	.	.	.	.	.	.	.	C	14.44	2.536793	0.45176	2.27E-4	0.0	ENSG00000165698	ENST00000350499	T	0.46063	0.88	5.39	3.49	0.39957	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.27149	N	0.961464	P	0.45348	0.856	B	0.36885	0.235	T	0.23547	-1.0185	8	0.72032	D	0.01	.	5.7927	0.18369	0.1936:0.7101:0.0:0.0963	rs2231412;rs2231412	167	Q96E40-2	.	M	167	ENSP00000298546:T167M	ENSP00000298546:T167M	T	+	2	0	C9orf9	134755169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.781000	0.26774	1.204000	0.43247	0.462000	0.41574	ACG		0.448	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		21	303	21	303	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57864213	57864213	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:57864213C>T	ENST00000228682.2	+	12	1781	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	GLI1_ENST00000543426.1_Missense_Mutation_p.P436S|GLI1_ENST00000546141.1_Missense_Mutation_p.P523S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	564					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTGGCCTCTCCTTTCCCCCC	0.647																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1690-1692)Cct>Tct		GLI family zinc finger 1							59.0	60.0	60.0					12																	57864213		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864213C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1690C>T	12.37:g.57864213C>T	ENSP00000228682:p.Pro564Ser		Somatic				GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S	p.P564S	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1781	+			564					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1690C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430113	0.62844	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.15372	2.51;2.43;2.53;2.53	3.86	3.86	0.44501	.	0.000000	0.45867	D	0.000332	T	0.34542	0.0901	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.05321	-1.0892	10	0.46703	T	0.11	.	15.7645	0.78114	0.0:1.0:0.0:0.0	.	564	P08151	GLI1_HUMAN	S	436;564;523;523	ENSP00000437607:P436S;ENSP00000228682:P564S;ENSP00000441006:P523S;ENSP00000434408:P523S	ENSP00000228682:P564S	P	+	1	0	GLI1	56150480	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	5.356000	0.66052	2.436000	0.82500	0.491000	0.48974	CCT		0.647	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		5	42	5	42	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46554093	46554093	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr13:46554093A>C	ENST00000242848.4	-	11	2115	c.1767T>G	c.(1765-1767)aaT>aaG	p.N589K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	589	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATAGTTGCTATTACTACTGT	0.383																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1765-1767)aaT>aaG		zinc finger CCCH-type containing 13							129.0	110.0	117.0					13																	46554093		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46554093A>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1767T>G	13.37:g.46554093A>C	ENSP00000242848:p.Asn589Lys		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K	p.N589K			WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2115	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	589			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1767T>G		.	.	.	.	.	.	.	.	.	.	A	12.46	1.945521	0.34377	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.28666	2.62;1.6	5.52	4.35	0.52113	.	0.358239	0.26975	N	0.021554	T	0.13286	0.0322	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.08411	-1.0723	10	0.08837	T	0.75	.	8.0314	0.30467	0.8422:0.0:0.1578:0.0	.	589;589	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	K	589;589;405	ENSP00000242848:N589K;ENSP00000282007:N589K	ENSP00000242848:N589K	N	-	3	2	ZC3H13	45452094	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.246000	0.51414	0.949000	0.37715	0.528000	0.53228	AAT		0.383	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	58	4	58	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003250	42003250	+	Nonsense_Mutation	SNP	C	C	G			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr15:42003250C>G	ENST00000570161.1	+	7	2787	c.2787C>G	c.(2785-2787)taC>taG	p.Y929*	MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000219905.7_Nonsense_Mutation_p.Y929*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAGAAATACTCTCATGTGA	0.378																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2785-2787)taC>taG		MGA, MAX dimerization protein							144.0	141.0	142.0					15																	42003250		1869	4112	5981	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003250C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2787C>G	15.37:g.42003250C>G	ENSP00000457035:p.Tyr929*		Somatic				MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*	p.Y929*	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2968	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	929					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.2787C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	37	6.051819	0.97236	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.84	-6.25	0.02039	.	1.098990	0.06789	N	0.786718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	5.9871	0.19440	0.3916:0.1545:0.0:0.4538	.	.	.	.	X	929	.	ENSP00000219905:Y929X	Y	+	3	2	MGA	39790542	0.000000	0.05858	0.005000	0.12908	0.818000	0.46254	-1.633000	0.02022	-0.710000	0.05001	0.655000	0.94253	TAC		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		12	100	12	100	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64199185	64199186	+	Splice_Site	INS	-	-	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:64199185_64199186insT	ENST00000261234.6	+	5	1072		c.e5+1		TMEM5_ENST00000537373.1_Splice_Site	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5							integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CAAGAGAACAGTAAGTTCTATG	0.347																																						ENST00000537373.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.e5+1		transmembrane protein 5																																				SO:0001630	splice_region_variant	10329					integral to plasma membrane		g.chr12:64199185_64199186insT	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.914+1->T	12.37:g.64199186_64199186dupT			Somatic				TMEM5_ENST00000261234.6_Splice_Site		NM_001278237.1	NP_001265166.1	WXS	Illumina GAIIx	Phase_I	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	5	1082	+		Myeloproliferative disorder(1001;0.0255)						A8K017|Q6PKD6	Splice_Site	INS	ENST00000261234.6	37		CCDS8966.1																																																																																				0.347	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254	Intron	7	82	7	82	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677872	37677873	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr19:37677872_37677873insT	ENST00000532828.2	-	5	817_818	c.566_567insA	c.(565-567)aatfs	p.N189fs	ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCACATTCATTGCACTTATA	0.376																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(565-567)aatfs		zinc finger protein 585B																																				SO:0001589	frameshift_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677872_37677873insT	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.567dupA	19.37:g.37677874_37677874dupT	ENSP00000433773:p.Asn189fs		Somatic				ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|CTC-454I21.3_ENST00000585860.2_Intron	p.N189fs	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	817_818	-			189					Q8IZD3|Q96JW6	Frame_Shift_Ins	INS	ENST00000532828.2	37	c.566_567insA	CCDS12500.1																																																																																				0.376	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		15	165	15	165	---	---	---	---
