#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
FAM188A	80013	broad.mit.edu	37	10	15883458	15883458	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:15883458G>A	ENST00000277632.3	-	4	596	c.376C>T	c.(376-378)Cct>Tct	p.P126S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	126					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACTCTGCAGGACTCCCAGAA	0.348																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(376-378)Cct>Tct		family with sequence similarity 188, member A							89.0	85.0	87.0					10																	15883458		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15883458G>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.376C>T	10.37:g.15883458G>A	ENSP00000277632:p.Pro126Ser					FAM188A_ENST00000477891.1_5'UTR	p.P126S	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			4	596	-			126					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.376C>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552885	0.45487	.	.	ENSG00000148481	ENST00000277632	T	0.29655	1.56	5.5	5.5	0.81552	.	0.325020	0.38381	N	0.001720	T	0.31071	0.0785	L	0.47716	1.5	0.80722	D	1	B	0.30851	0.297	B	0.32211	0.142	T	0.05037	-1.0910	10	0.16896	T	0.51	-7.5283	19.7538	0.96281	0.0:0.0:1.0:0.0	.	126	Q9H8M7	F188A_HUMAN	S	126	ENSP00000277632:P126S	ENSP00000277632:P126S	P	-	1	0	FAM188A	15923464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.739000	0.93911	0.561000	0.74099	CCT		0.348	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		5	36	0	0	0	1	0	5	36				
MAP4K5	11183	broad.mit.edu	37	14	50904710	50904710	+	Silent	SNP	G	G	C	rs540339833		TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr14:50904710G>C	ENST00000013125.4	-	24	2043	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	575	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGTGAGAGTAGAGCTGAAAGG	0.348																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1723-1725)ctC>ctG		mitogen-activated protein kinase kinase kinase kinase 5							97.0	90.0	92.0					14																	50904710		1801	4064	5865	SO:0001819	synonymous_variant	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50904710G>C	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1725C>G	14.37:g.50904710G>C							p.L575L	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			24	2043	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		575			CNH.		Q8IYF6	Silent	SNP	ENST00000013125.4	37	c.1725C>G																																																																																					0.348	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		3	39	0	0	0	1	0	3	39				
MEPE	56955	broad.mit.edu	37	4	88767438	88767438	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr4:88767438C>A	ENST00000424957.3	+	4	1491	c.1418C>A	c.(1417-1419)cCc>cAc	p.P473H	MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H|MEPE_ENST00000497649.2_Missense_Mutation_p.P449H|MEPE_ENST00000395102.4_Missense_Mutation_p.P504H	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	473					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CATTATGTACCCCACAGACAA	0.413																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1345-1347)cCc>cAc		matrix extracellular phosphoglycoprotein							72.0	72.0	72.0					4																	88767438		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767438C>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1418C>A	4.37:g.88767438C>A	ENSP00000416984:p.Pro473His					MEPE_ENST00000395102.4_Missense_Mutation_p.P504H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.P473H|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H	p.P449H			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1724	+		Hepatocellular(203;0.114)	473					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1346C>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	9.749	1.167077	0.21621	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.89;0.88	4.28	2.36	0.29203	.	0.554981	0.15099	N	0.280660	T	0.33673	0.0871	L	0.56396	1.775	0.09310	N	1	P	0.39883	0.693	B	0.32393	0.145	T	0.19386	-1.0307	10	0.52906	T	0.07	0.0636	9.0641	0.36453	0.393:0.607:0.0:0.0	.	473	Q9NQ76	MEPE_HUMAN	H	473;504;449;360;473	ENSP00000416984:P473H;ENSP00000378534:P504H;ENSP00000422747:P449H;ENSP00000443491:P360H;ENSP00000354341:P473H	ENSP00000354341:P473H	P	+	2	0	MEPE	88986462	0.000000	0.05858	0.060000	0.19600	0.018000	0.09664	0.169000	0.16641	0.940000	0.37473	0.563000	0.77884	CCC		0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			6	45	1	0	3.59834e-05	1	3.95817e-05	6	45				
AGBL1	123624	broad.mit.edu	37	15	86810268	86810268	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr15:86810268T>G	ENST00000441037.2	+	12	1756	c.1661T>G	c.(1660-1662)tTt>tGt	p.F554C	AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	554					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTCCAAATTTGAGTCAGGA	0.408																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1660-1662)tTt>tGt		ATP/GTP binding protein-like 1							89.0	81.0	83.0					15																	86810268		1910	4116	6026	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86810268T>G	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1661T>G	15.37:g.86810268T>G	ENSP00000413001:p.Phe554Cys					AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C	p.F554C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			12	1756	+			554					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1661T>G	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481694	0.63849	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.35421	1.31;1.31	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	H	0.97291	3.975	0.47407	D	0.99941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.83584	0.0119	10	0.87932	D	0	-15.5317	14.4553	0.67413	0.0:0.0:0.0:1.0	.	253;285;554	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	C	583;554;285	ENSP00000397173:F554C;ENSP00000373949:F285C	ENSP00000373949:F285C	F	+	2	0	AGBL1	84611272	1.000000	0.71417	0.989000	0.46669	0.528000	0.34623	6.754000	0.74909	2.004000	0.58718	0.533000	0.62120	TTT		0.408	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	1	0	0	0	1	0	4	1				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	44	0	0	0	1	0	3	44				
CUL4A	8451	broad.mit.edu	37	13	113888241	113888241	+	Silent	SNP	T	T	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr13:113888241T>C	ENST00000375440.4	+	7	790	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	CUL4A_ENST00000451881.1_Silent_p.L136L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000326335.4_Silent_p.L136L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	236					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACTGAAATTTTTGGAAGAGAC	0.403																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(406-408)Ttg>Ctg		cullin 4A							123.0	118.0	120.0					13																	113888241		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113888241T>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.706T>C	13.37:g.113888241T>C						CUL4A_ENST00000375440.4_Silent_p.L236L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000326335.4_Silent_p.L136L	p.L136L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		7	655	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	236					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.406T>C	CCDS41908.1																																																																																				0.403	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		5	46	0	0	0	1	0	5	46				
ZFPM2	23414	broad.mit.edu	37	8	106815687	106815687	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr8:106815687T>C	ENST00000407775.2	+	8	3627	c.3377T>C	c.(3376-3378)aTc>aCc	p.I1126T	ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1126					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTATGTGATATCCAGTTCAAC	0.418																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(3376-3378)aTc>aCc		zinc finger protein, FOG family member 2							39.0	39.0	39.0					8																	106815687		1884	4107	5991	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815687T>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3377T>C	8.37:g.106815687T>C	ENSP00000384179:p.Ile1126Thr					ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000509144.2_RNA	p.I1126T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3627	+			1126					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3377T>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977155	0.53720	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61992	-0.6948	10	0.51188	T	0.08	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	1126	Q8WW38	FOG2_HUMAN	T	1126;994;994;857	ENSP00000384179:I1126T;ENSP00000430757:I994T;ENSP00000428720:I994T;ENSP00000367733:I857T	ENSP00000367733:I857T	I	+	2	0	ZFPM2	106884863	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.224000	0.72417	0.528000	0.53228	ATC		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	19	0	0	0	1	0	3	19				
CFAP44	55779	broad.mit.edu	37	3	113145101	113145101	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr3:113145101C>A	ENST00000295868.2	-	4	439	c.277G>T	c.(277-279)Gct>Tct	p.A93S	WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A93S	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCTTCCACAGCTGGAGCAGGG	0.398																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(277-279)Gct>Tct		WD repeat domain 52							113.0	116.0	115.0					3																	113145101		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113145101C>A																												ENST00000295868.2:c.277G>T	3.37:g.113145101C>A	ENSP00000295868:p.Ala93Ser					WDR52_ENST00000295868.2_Missense_Mutation_p.A93S|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	p.A93S	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			4	343	-			93						Missense_Mutation	SNP	ENST00000295868.2	37	c.277G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133221	0.21041	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.44083	2.85;0.93	5.24	-0.59	0.11679	.	.	.	.	.	T	0.27384	0.0672	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.22941	-1.0202	9	0.20046	T	0.44	.	12.8912	0.58071	0.1111:0.3345:0.5545:0.0	.	93	Q96MT7	WDR52_HUMAN	S	93	ENSP00000377428:A93S;ENSP00000295868:A93S	ENSP00000295868:A93S	A	-	1	0	WDR52	114627791	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.164000	0.09983	-0.108000	0.12066	-0.188000	0.12872	GCT		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			4	84	1	0	0.00909568	1	0.00952881	4	84				
ZNF519	162655	broad.mit.edu	37	18	14106297	14106297	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr18:14106297A>G	ENST00000590202.1	-	3	394	c.242T>C	c.(241-243)tTa>tCa	p.L81S	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	81					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTTTTTCCATAAGCATATATT	0.353																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(241-243)tTa>tCa		zinc finger protein 519							70.0	69.0	70.0					18																	14106297		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14106297A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.242T>C	18.37:g.14106297A>G	ENSP00000464872:p.Leu81Ser					ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.L81S	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	394	-			81						Missense_Mutation	SNP	ENST00000590202.1	37	c.242T>C	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	A	2.389	-0.340312	0.05243	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.328	-0.656	0.11436	.	.	.	.	.	T	0.33294	0.0858	L	0.60455	1.87	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.28870	-1.0030	8	0.54805	T	0.06	.	3.3913	0.07290	0.6526:0.0:0.0:0.3474	.	81	Q8TB69	ZN519_HUMAN	S	81	.	ENSP00000307908:L81S	L	-	2	0	ZNF519	14096297	0.001000	0.12720	0.000000	0.03702	0.417000	0.31264	0.336000	0.19823	-0.921000	0.03794	0.076000	0.15429	TTA		0.353	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		17	19	0	0	0	1	0	17	19				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	284802							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	67	0	0	0	1	0	4	67				
MORN4	118812	broad.mit.edu	37	10	99376082	99376082	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:99376082A>C	ENST00000307450.6	-	5	542	c.379T>G	c.(379-381)Tgt>Ggt	p.C127G	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000335628.3_Missense_Mutation_p.C185G|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	127										large_intestine(1)|lung(1)|stomach(2)	4						ATGGCAGAACACTTCTCACGT	0.542																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(553-555)Tgt>Ggt		MORN repeat containing 4							63.0	60.0	61.0					10																	99376082		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376082A>C	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.379T>G	10.37:g.99376082A>C	ENSP00000307636:p.Cys127Gly					PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.C127G	p.C185G			Q8NDC4	MORN4_HUMAN			4	552	-			127					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.553T>G	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678305	0.47886	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.58652	0.71;0.32	5.03	5.03	0.67393	.	0.048373	0.85682	D	0.000000	T	0.69833	0.3155	M	0.63843	1.955	0.80722	D	1	D;P	0.71674	0.998;0.601	D;B	0.64237	0.923;0.08	T	0.67643	-0.5618	10	0.28530	T	0.3	-13.2655	14.9245	0.70866	1.0:0.0:0.0:0.0	.	185;127	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	G	127;127;185	ENSP00000307636:C127G;ENSP00000335498:C185G	ENSP00000307636:C127G	C	-	1	0	MORN4	99366072	1.000000	0.71417	0.996000	0.52242	0.746000	0.42486	3.067000	0.50010	2.119000	0.64992	0.459000	0.35465	TGT		0.542	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		9	17	0	0	0	1	0	9	17				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	79	0	0	0	1	0	4	79				
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			644619							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		9	23						9	23	---	---	---	---
MED25	81857	broad.mit.edu	37	19	50338834	50338834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr19:50338834delA	ENST00000312865.6	+	15	1771	c.1718delA	c.(1717-1719)gagfs	p.E573fs	MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	573	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCATTCTGGAGGACCAAGCC	0.667																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1717-1719)ggfs		mediator complex subunit 25							8.0	9.0	9.0					19																	50338834		2168	4258	6426	SO:0001589	frameshift_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50338834delA	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1718delA	19.37:g.50338834delA	ENSP00000326767:p.Glu573fs					MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs	p.E573fs	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	15	1771	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	573			Interaction with RARA.|Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Frame_Shift_Del	DEL	ENST00000312865.6	37	c.1718delA	CCDS33075.1																																																																																				0.667	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		2	4						2	4	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-	rs398124305		TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(16-21)ctg>c		membrane-bound transcription factor peptidase, site 2				318,3361		136,29,17,1421,490						2.4	1.0			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del	p.LV6del			O43462	MBTP2_HUMAN			1	98_100	+			6					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	5						3	5	---	---	---	---
PCYT1B	9468	broad.mit.edu	37	X	24637194	24637195	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:24637194_24637195delGT	ENST00000379144.2	-	2	254_255	c.124_125delAC	c.(124-126)actfs	p.T42fs	PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.T24fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	42					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCAGGTGCAGTCAGGGTCTAG	0.48																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(70-72)tfs		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)																																			SO:0001589	frameshift_variant	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24637194_24637195delGT	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.124_125delAC	X.37:g.24637194_24637195delGT	ENSP00000368439:p.Thr42fs					PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.T42fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs	p.T24fs	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			2	114_115	-			42					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Frame_Shift_Del	DEL	ENST00000379144.2	37	c.70_71delAC	CCDS14213.1																																																																																				0.480	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		10	2						10	2	---	---	---	---
