#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HERC2	8924	broad.mit.edu	37	15	28441638	28441638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr15:28441638C>A	ENST00000261609.7	-	51	8197	c.8089G>T	c.(8089-8091)Gag>Tag	p.E2697*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTACCAACTCCATTTCTGAT	0.408																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(8089-8091)Gag>Tag		HECT and RLD domain containing E3 ubiquitin protein ligase 2							107.0	106.0	106.0					15																	28441638		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28441638C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8089G>T	15.37:g.28441638C>A	ENSP00000261609:p.Glu2697*		Somatic					p.E2697*	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	51	8197	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2697						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.8089G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	48	14.590650	0.99802	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.3	5.3	0.74995	.	0.120957	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3101	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	X	2697	.	ENSP00000261609:E2697X	E	-	1	0	HERC2	26115233	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.776000	0.85560	2.649000	0.89929	0.484000	0.47621	GAG		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		54	49	1	0	1.72039e-30	1	2.21193e-30	54	49				
FLG2	388698	broad.mit.edu	37	1	152328447	152328447	+	Silent	SNP	G	G	A	rs138495442	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:152328447G>A	ENST00000388718.5	-	3	1887	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	605	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTCCAAAGCCAGAGGATT	0.517																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1813-1815)ggC>ggT		filaggrin family member 2		G		2,4404		0,2,2201	183.0	235.0	217.0		1815	-0.6	0.0	1	dbSNP_134	217	8,8590	5.0+/-18.6	0,8,4291	no	coding-synonymous	FLG2	NM_001014342.2		0,10,6492	AA,AG,GG		0.093,0.0454,0.0769		605/2392	152328447	10,12994	2203	4299	6502	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328447G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1815C>T	1.37:g.152328447G>A			Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G605G	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1887	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		605			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1815C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	216	0	0	0	1	0	4	216				
TOP2B	7155	broad.mit.edu	37	3	25665189	25665189	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:25665189C>A	ENST00000264331.4	-	21	2543	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	TOP2B_ENST00000435706.2_Missense_Mutation_p.K843N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	848					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATAAAGGAACTTAAGGAGGT	0.388																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2527-2529)aaG>aaT		topoisomerase (DNA) II beta 180kDa							69.0	62.0	64.0					3																	25665189		1853	4091	5944	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665189C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2544G>T	3.37:g.25665189C>A	ENSP00000264331:p.Lys848Asn		Somatic				TOP2B_ENST00000264331.4_Missense_Mutation_p.K848N	p.K843N			WXS	Illumina GAIIx	Phase_I	Q02880	TOP2B_HUMAN			21	2730	-			848					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2529G>T		.	.	.	.	.	.	.	.	.	.	C	12.04	1.817903	0.32145	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44881	0.91;0.91	5.43	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.16016	0.355	0.80722	D	1	B	0.14438	0.01	B	0.21360	0.034	T	0.05402	-1.0887	10	0.21014	T	0.42	-11.3882	10.7836	0.46393	0.0:0.6438:0.0:0.3562	.	843	Q02880-2	.	N	843;848;843	ENSP00000396704:K843N;ENSP00000264331:K848N	ENSP00000264331:K848N	K	-	3	2	TOP2B	25640193	0.999000	0.42202	0.998000	0.56505	0.965000	0.64279	0.698000	0.25571	0.028000	0.15324	0.557000	0.71058	AAG		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				3	26	1	0	6.4e-05	1	7.2e-05	3	26				
ATP2A3	489	broad.mit.edu	37	17	3833685	3833685	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:3833685C>T	ENST00000352011.3	-	18	2708	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	885					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACAGTCGATGCCGGCAAAGAG	0.612																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2653-2655)gGc>gAc		ATPase, Ca++ transporting, ubiquitous							99.0	76.0	84.0					17																	3833685		2203	4299	6502	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3833685C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2654G>A	17.37:g.3833685C>T	ENSP00000301387:p.Gly885Asp		Somatic				ATP2A3_ENST00000352011.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D	p.G885D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	WXS	Illumina GAIIx	Phase_I	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	18	2804	-			885					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2654G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	6.993	0.553332	0.13374	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	3.78	1.37	0.22104	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.379891	0.28736	N	0.014319	T	0.82254	0.4997	L	0.45470	1.425	0.54753	D	0.999982	B;B;B;B;B;B	0.12013	0.0;0.0;0.0;0.005;0.002;0.001	B;B;B;B;B;B	0.13407	0.001;0.004;0.006;0.009;0.009;0.009	T	0.72030	-0.4413	10	0.30854	T	0.27	.	8.1506	0.31139	0.0:0.7576:0.0:0.2424	.	885;885;885;885;885;885	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	885;69;885;885;885;885;885;885	ENSP00000380236:G885D;ENSP00000380232:G69D;ENSP00000301387:G885D;ENSP00000353072:G885D;ENSP00000380234:G885D;ENSP00000312577:G885D;ENSP00000380229:G885D	ENSP00000312577:G885D	G	-	2	0	ATP2A3	3780434	0.019000	0.18553	0.016000	0.15963	0.077000	0.17291	1.418000	0.34782	0.357000	0.24183	0.467000	0.42956	GGC		0.612	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		3	26	0	0	0	1	0	3	26				
TMEM44	93109	broad.mit.edu	37	3	194346636	194346636	+	Silent	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:194346636C>T	ENST00000392432.2	-	3	553	c.348G>A	c.(346-348)aaG>aaA	p.K116K	TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K|TMEM44_ENST00000473092.1_Silent_p.K116K|TMEM44_ENST00000381975.3_Silent_p.K116K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	116						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAATTAGACTTGAATTTGG	0.468																																						ENST00000392432.2																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8						c.(346-348)aaG>aaA		transmembrane protein 44							208.0	192.0	197.0					3																	194346636		2203	4300	6503	SO:0001819	synonymous_variant	93109					integral to membrane		g.chr3:194346636C>T	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.348G>A	3.37:g.194346636C>T			Somatic				TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000473092.1_Silent_p.K116K	p.K116K	NM_001166305.1	NP_001159777.1	WXS	Illumina GAIIx	Phase_I	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	3	553	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		116					A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.348G>A	CCDS54699.1																																																																																				0.468	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		49	10	0	0	0	1	0	49	10				
SIGLEC1	6614	broad.mit.edu	37	20	3674277	3674277	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr20:3674277C>T	ENST00000344754.4	-	13	3324	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1109	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGGTCCACACAAGGCAGGTC	0.652																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3325-3327)Gtg>Atg		sialic acid binding Ig-like lectin 1, sialoadhesin							71.0	49.0	57.0					20																	3674277		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674277C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3325G>A	20.37:g.3674277C>T	ENSP00000341141:p.Val1109Met		Somatic				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	p.V1109M	NM_023068.3	NP_075556.1	WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			13	3324	-			1109			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3325G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822182	0.71028	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13901	2.55;2.55	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.206543	0.24314	N	0.039618	T	0.45498	0.1345	M	0.88842	2.985	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.46091	-0.9216	10	0.72032	D	0.01	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	1109;1109	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	1109	ENSP00000341141:V1109M;ENSP00000202578:V1109M	ENSP00000202578:V1109M	V	-	1	0	SIGLEC1	3622277	0.106000	0.21978	0.061000	0.19648	0.941000	0.58515	2.243000	0.43115	2.612000	0.88384	0.655000	0.94253	GTG		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		12	12	0	0	0	1	0	12	12				
CDC40	51362	broad.mit.edu	37	6	110540993	110540993	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr6:110540993G>A	ENST00000368932.1	+	13	1362	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I			O60508	PRP17_HUMAN	cell division cycle 40	421					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTGGGAGCTGTCAACACCAT	0.408																																						ENST00000368932.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1261-1263)Gtc>Atc		cell division cycle 40							211.0	190.0	197.0					6																	110540993		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110540993G>A	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1261G>A	6.37:g.110540993G>A	ENSP00000357928:p.Val421Ile		Somatic				CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I	p.V421I			WXS	Illumina GAIIx	Phase_I	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	13	1362	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	421					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1261G>A	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057298	0.93846	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.41573	1.285	0.80722	D	1	P	0.41848	0.763	P	0.55999	0.789	T	0.64063	-0.6495	10	0.34782	T	0.22	-6.1007	19.43	0.94760	0.0:0.0:1.0:0.0	.	421	O60508	PRP17_HUMAN	I	421	ENSP00000357928:V421I;ENSP00000357929:V421I;ENSP00000357926:V421I;ENSP00000304370:V421I	ENSP00000304370:V421I	V	+	1	0	CDC40	110647686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.589000	0.87451	0.591000	0.81541	GTC		0.408	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		26	77	0	0	0	1	0	26	77				
CHML	1122	broad.mit.edu	37	1	241797963	241797963	+	Missense_Mutation	SNP	C	C	T	rs200203736		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:241797963C>T	ENST00000366553.1	-	1	1269	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	369					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTGCCAAACCGTCCGAGACA	0.418																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1105-1107)cGg>cAg		choroideremia-like (Rab escort protein 2)		C	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	95.0	96.0	96.0		1106,	3.1	0.8	1		96	0,8598		0,0,4299	yes	missense,intron	CHML,OPN3	NM_001821.3,NM_014322.2	43,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	369/657,	241797963	1,13003	2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797963C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1106G>A	1.37:g.241797963C>T	ENSP00000355511:p.Arg369Gln		Somatic				OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	p.R369Q	NM_001821.3	NP_001812.2	WXS	Illumina GAIIx	Phase_I	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1269	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	369					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1106G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362737	0.61403	2.27E-4	0.0	ENSG00000203668	ENST00000366553	D	0.88124	-2.34	4.96	3.1	0.35709	.	0.187243	0.47852	U	0.000213	D	0.87309	0.6145	.	.	.	0.48452	D	0.999651	D	0.60160	0.987	P	0.49683	0.619	D	0.87755	0.2594	9	0.87932	D	0	-2.4762	9.5703	0.39425	0.0:0.8242:0.0:0.1758	.	369	P26374	RAE2_HUMAN	Q	369	ENSP00000355511:R369Q	ENSP00000355511:R369Q	R	-	2	0	CHML	239864586	1.000000	0.71417	0.847000	0.33407	0.840000	0.47671	3.008000	0.49544	1.469000	0.48083	0.655000	0.94253	CGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		15	38	0	0	0	1	0	15	38				
CYLD	1540	broad.mit.edu	37	16	50788282	50788282	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:50788282G>T	ENST00000427738.3	+	4	1065	c.860G>T	c.(859-861)aGt>aTt	p.S287I	CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000540145.1_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I|CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	287	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGCTTTGTAGTTTTGCGTGT	0.308			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(859-861)aGt>aTt		cylindromatosis (turban tumor syndrome)							161.0	149.0	152.0					16																	50788282		1846	4093	5939	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788282G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.860G>T	16.37:g.50788282G>T	ENSP00000392025:p.Ser287Ile		Somatic				CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000427738.3_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I	p.S287I			WXS	Illumina GAIIx	Phase_I	Q9NQC7	CYLD_HUMAN			6	1275	+		all_cancers(37;0.0156)	287			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.860G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916209	0.52546	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.98	5.98	0.97165	Cytoskeleton-associated protein, Gly-rich domain (3);	0.042476	0.85682	D	0.000000	T	0.22898	0.0553	L	0.38175	1.15	0.53688	D	0.999972	P;P;P;P	0.39352	0.669;0.617;0.617;0.669	B;B;B;B	0.38106	0.265;0.173;0.173;0.265	T	0.00787	-1.1566	10	0.51188	T	0.08	-17.329	20.4447	0.99122	0.0:0.0:1.0:0.0	.	287;287;287;287	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	I	287	ENSP00000445447:S287I;ENSP00000308928:S287I;ENSP00000392025:S287I;ENSP00000381574:S287I	ENSP00000308928:S287I	S	+	2	0	CYLD	49345783	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.808000	0.75206	2.834000	0.97654	0.655000	0.94253	AGT		0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			3	49	1	0	1	1	1	3	49				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	64	0	0	0	1	0	4	64				
SPARCL1	8404	broad.mit.edu	37	4	88414959	88414959	+	Silent	SNP	C	C	T	rs145736129		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr4:88414959C>T	ENST00000282470.6	-	4	1463	c.993G>A	c.(991-993)acG>acA	p.T331T	SPARCL1_ENST00000418378.1_Silent_p.T331T|SPARCL1_ENST00000503414.1_Silent_p.T206T	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	331					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GATTTCTGGGCGTGGTATTAC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20511	0.001		0.0	False		,,,				2504	0.0					ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(991-993)acG>acA		SPARC-like 1 (hevin)		C	,	0,4406		0,0,2203	191.0	159.0	170.0		993,993	1.4	0.0	4	dbSNP_134	170	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous	SPARCL1	NM_001128310.1,NM_004684.4	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	331/665,331/665	88414959	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414959C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.993G>A	4.37:g.88414959C>T			Somatic				SPARCL1_ENST00000282470.6_Silent_p.T331T|SPARCL1_ENST00000503414.1_Silent_p.T206T	p.T331T	NM_001128310.1	NP_001121782.1	WXS	Illumina GAIIx	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1564	-			331					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.993G>A	CCDS3622.1																																																																																				0.483	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			63	49	0	0	0	1	0	63	49				
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1054-1056)ccA>ccC		GRB2-associated binding protein 2							44.0	51.0	49.0					11																	77937662		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937662T>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G			Somatic				GAB2_ENST00000340149.2_Silent_p.P314P	p.P352P	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1141	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		352					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1056A>C	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		5	38	0	0	0	1	0	5	38				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T			Somatic					p.C432C	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	77	0	0	0	1	0	4	77				
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587																																						ENST00000330070.4																			2	Substitution - coding silent(2)	p.P335P(2)	lung(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1003-1005)ccT>ccC		homeobox B2							80.0	83.0	82.0					17																	46620496		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620496A>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.1005T>C	17.37:g.46620496A>G			Somatic				HOXB2_ENST00000504772.3_5'UTR	p.P335P	NM_002145.3	NP_002136.1	WXS	Illumina GAIIx	Phase_I	P14652	HXB2_HUMAN			2	2172	-			335					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.1005T>C	CCDS11527.1																																																																																				0.587	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			4	276	0	0	0	1	0	4	276				
ARID2	196528	broad.mit.edu	37	12	46287220	46287220	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr12:46287220G>A	ENST00000334344.6	+	19	5337	c.5165G>A	c.(5164-5166)gGc>gAc	p.G1722D	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D|ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1722					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTGTAGGGGGCACAAGCTCA	0.483			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5164-5166)gGc>gAc		AT rich interactive domain 2 (ARID, RFX-like)							71.0	60.0	64.0					12																	46287220		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287220G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5165G>A	12.37:g.46287220G>A	ENSP00000335044:p.Gly1722Asp		Somatic				ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D|ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR	p.G1722D	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	19	5337	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1722					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5165G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910338	0.52439	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.32272	1.46	5.4	5.4	0.78164	.	0.187530	0.48286	D	0.000183	T	0.26521	0.0648	L	0.29908	0.895	0.41564	D	0.988649	B;B;B	0.34290	0.447;0.447;0.242	B;B;B	0.36244	0.22;0.147;0.054	T	0.06427	-1.0827	10	0.49607	T	0.09	-1.9611	14.718	0.69284	0.0:0.2665:0.7335:0.0	.	1722;1332;1722	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	D	1722;839;839;1573;1332;330	ENSP00000335044:G1722D	ENSP00000335044:G1722D	G	+	2	0	ARID2	44573487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.618000	0.54188	2.536000	0.85505	0.591000	0.81541	GGC		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		3	29	0	0	0	1	0	3	29				
DHTKD1	55526	broad.mit.edu	37	10	12160871	12160871	+	Silent	SNP	G	G	A	rs143353830	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr10:12160871G>A	ENST00000263035.4	+	15	2588	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	842					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCCCCTTCCCGTTGGATTCTT	0.443																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2524-2526)ccG>ccA		dehydrogenase E1 and transketolase domain containing 1		G		3,4403	6.2+/-15.9	0,3,2200	144.0	140.0	142.0		2526	-10.1	0.0	10	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	DHTKD1	NM_018706.5		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		842/920	12160871	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160871G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2526G>A	10.37:g.12160871G>A			Somatic					p.P842P	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2588	+		Renal(717;0.228)	842					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2526G>A	CCDS7087.1																																																																																				0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	106	0	0	0	1	0	4	106				
CNOT1	23019	broad.mit.edu	37	16	58610395	58610395	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:58610395C>A	ENST00000317147.5	-	14	2008	c.1676G>T	c.(1675-1677)cGa>cTa	p.R559L	CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L|CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	559					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAAGTATTCGAGACAATTT	0.478																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1675-1677)cGa>cTa		CCR4-NOT transcription complex, subunit 1							187.0	141.0	156.0					16																	58610395		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58610395C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1676G>T	16.37:g.58610395C>A	ENSP00000320949:p.Arg559Leu		Somatic				CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L|CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L	p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	14	2008	-			559					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1676G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	37	6.308562	0.97462	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.17054	2.3;2.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.979;0.997;0.999	T	0.61978	-0.6951	9	.	.	.	11.9105	19.9986	0.97401	0.0:1.0:0.0:0.0	.	559;559;559	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	559	ENSP00000320949:R559L;ENSP00000413113:R559L	.	R	-	2	0	CNOT1	57167896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	CGA		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		3	71	1	0	1	1	1	3	71				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	55	0	0	0	1	0	4	55				
BAP1	8314	broad.mit.edu	37	3	52437899	52437899	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437899delT	ENST00000460680.1	-	13	1733	c.1262delA	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCTGTTCCCTTCCCCTTATA	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1261-1263)aagfs		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							77.0	81.0	80.0					3																	52437899		2203	4300	6503	SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437899delT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1262delA	3.37:g.52437899delT	ENSP00000417132:p.Lys421fs		Somatic				BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	p.K421fs	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1733	-			421					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1262delA	CCDS2853.1																																																																																				0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			38	11						38	11	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2640)tcctca>tca		zinc finger CCCH-type containing 3																																				SO:0001651	inframe_deletion	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522387_144522389delGAG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del		Somatic					p.879_880SS>S	NM_015117.2	NP_055932.2	WXS	Illumina GAIIx	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2668_2670	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	ENST00000262577.5	37	c.2637_2639delCTC	CCDS6402.1																																																																																				0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		4	8						4	8	---	---	---	---
