#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
CDR2	1039	broad.mit.edu	37	16	22361098	22361098	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:22361098C>T	ENST00000268383.2	-	3	572	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	89						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTGCTGTGACGTCTAATTGT	0.423																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(265-267)Gtc>Atc		cerebellar degeneration-related protein 2, 62kDa							195.0	170.0	179.0					16																	22361098		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22361098C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.265G>A	16.37:g.22361098C>T	ENSP00000268383:p.Val89Ile						p.V89I	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	3	572	-			89					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.265G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718728	0.30503	.	.	ENSG00000140743	ENST00000268383	T	0.29917	1.55	5.95	-0.41	0.12374	.	0.609667	0.17898	N	0.158294	T	0.20536	0.0494	L	0.35542	1.07	0.31264	N	0.692601	B	0.15719	0.014	B	0.12156	0.007	T	0.14755	-1.0461	10	0.36615	T	0.2	-10.1694	10.032	0.42107	0.0:0.5447:0.0:0.4553	.	89	Q01850	CDR2_HUMAN	I	89	ENSP00000268383:V89I	ENSP00000268383:V89I	V	-	1	0	CDR2	22268599	0.978000	0.34361	0.151000	0.22473	0.879000	0.50718	0.395000	0.20850	-0.052000	0.13311	-0.136000	0.14681	GTC		0.423	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			17	219	0	0	0	1	0	17	219				
CENPF	1063	broad.mit.edu	37	1	214818125	214818125	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:214818125A>T	ENST00000366955.3	+	13	5380	c.5212A>T	c.(5212-5214)Aaa>Taa	p.K1738*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1834					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGGGAAGATAAAACCCAGGG	0.448																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5212-5214)Aaa>Taa		centromere protein F, 350/400kDa							42.0	43.0	43.0					1																	214818125		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818125A>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5212A>T	1.37:g.214818125A>T	ENSP00000355922:p.Lys1738*						p.K1738*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5380	+			1834					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.5212A>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	44	10.948013	0.99493	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.04	1.41	0.22369	.	0.581143	0.14373	N	0.323697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4458	0.21875	0.7288:0.132:0.1392:0.0	.	.	.	.	X	1738	.	ENSP00000355922:K1738X	K	+	1	0	CENPF	212884748	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.219000	0.17641	0.073000	0.16731	0.496000	0.49642	AAA		0.448	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		21	32	0	0	0	1	0	21	32				
UTP23	84294	broad.mit.edu	37	8	117778967	117778967	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:117778967G>A	ENST00000309822.2	+	1	226	c.125G>A	c.(124-126)cGc>cAc	p.R42H	UTP23_ENST00000517820.1_Missense_Mutation_p.R42H|UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|EIF3H_ENST00000276682.4_5'Flank	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	42					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTGCGGGGCCGCATCCAGCTG	0.677											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(124-126)cGc>cAc		UTP23, small subunit (SSU) processome component, homolog (yeast)							15.0	15.0	15.0					8																	117778967		2198	4293	6491	SO:0001583	missense	84294				rRNA processing	nucleolus		g.chr8:117778967G>A		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.125G>A	8.37:g.117778967G>A	ENSP00000308332:p.Arg42His		OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1483	UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|UTP23_ENST00000517820.1_Missense_Mutation_p.R42H	p.R42H	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			1	226	+			42					B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	c.125G>A	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989921	0.74589	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000517820	T	0.23147	1.92	5.45	5.45	0.79879	.	0.051630	0.64402	D	0.000001	T	0.19565	0.0470	L	0.39245	1.2	0.80722	D	1	B	0.20052	0.041	B	0.09377	0.004	T	0.07443	-1.0772	10	0.72032	D	0.01	-7.4053	6.5682	0.22523	0.2031:0.0:0.7969:0.0	.	42	Q9BRU9	UTP23_HUMAN	H	42	ENSP00000308332:R42H	ENSP00000308332:R42H	R	+	2	0	UTP23	117848148	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.623000	0.74238	2.833000	0.97629	0.585000	0.79938	CGC		0.677	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		3	21	0	0	0	1	0	3	21				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	55	0	0	0	1	0	3	55				
MT4	84560	broad.mit.edu	37	16	56602775	56602775	+	Silent	SNP	G	G	A	rs202143391		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:56602775G>A	ENST00000219162.3	+	3	200	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	40					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						GCTGCCCCCCGGGCTGTGCCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17924	0.0		0.001	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(118-120)ccG>ccA		metallothionein 4							109.0	119.0	116.0					16																	56602775		2192	4298	6490	SO:0001819	synonymous_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602775G>A	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.120G>A	16.37:g.56602775G>A							p.P40P	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	200	+			40					Q14DA1	Silent	SNP	ENST00000219162.3	37	c.120G>A	CCDS42165.1																																																																																				0.607	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		104	134	0	0	0	1	0	104	134				
CDK11B	984	broad.mit.edu	37	1	1573136	1573136	+	Silent	SNP	G	G	A	rs17434073	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:1573136G>A	ENST00000407249.3	-	14	1460	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000340677.5_Silent_p.I474I			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1459-1461)atC>atT		cyclin-dependent kinase 11B							334.0	296.0	309.0					1																	1573136		2114	4211	6325	SO:0001819	synonymous_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1573136G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1461C>T	1.37:g.1573136G>A						CDK11B_ENST00000340677.5_Silent_p.I474I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000317673.7_Silent_p.I485I	p.I487I			P21127	CD11B_HUMAN			14	1460	-			497			Protein kinase.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Silent	SNP	ENST00000407249.3	37	c.1461C>T																																																																																					0.617	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		4	186	0	0	0	1	0	4	186				
PDZK1	5174	broad.mit.edu	37	1	145761247	145761247	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:145761247G>A	ENST00000344770.2	+	7	1133	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	354					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)	p.A354T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGAGGCTCCAGCTCCTACTCC	0.428																																						ENST00000344770.2																			1	Substitution - Missense(1)	p.A354T(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7						c.(1060-1062)Gct>Act		PDZ domain containing 1							36.0	39.0	38.0					1																	145761247		1522	3185	4707	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145761247G>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1060G>A	1.37:g.145761247G>A	ENSP00000342143:p.Ala354Thr					PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		7	1133	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		354					B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.1060G>A	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566378	0.13560	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.17854	2.25;2.25;2.25	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.301944	0.24703	U	0.036298	T	0.05547	0.0146	L	0.50333	1.59	0.09310	N	1	B;B	0.30709	0.291;0.018	B;B	0.26202	0.067;0.016	T	0.24799	-1.0150	10	0.13853	T	0.58	-10.7122	10.1183	0.42605	0.0913:0.0:0.9087:0.0	.	243;354	E7EU02;Q5T2W1	.;NHRF3_HUMAN	T	354;243;354	ENSP00000394485:A354T;ENSP00000403422:A243T;ENSP00000342143:A354T	ENSP00000342143:A354T	A	+	1	0	PDZK1	144472604	0.948000	0.32251	0.034000	0.17996	0.256000	0.26092	4.212000	0.58514	2.536000	0.85505	0.585000	0.79938	GCT		0.428	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		38	43	0	0	0	1	0	38	43				
KLHL8	57563	broad.mit.edu	37	4	88106791	88106791	+	Missense_Mutation	SNP	T	T	C	rs201977013		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:88106791T>C	ENST00000273963.5	-	3	718	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	126	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCGTGAAGAATAGACAAACTT	0.423																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(376-378)tAt>tGt		kelch-like family member 8							80.0	79.0	79.0					4																	88106791		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88106791T>C	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.377A>G	4.37:g.88106791T>C	ENSP00000273963:p.Tyr126Cys					KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron	p.Y126C	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	3	718	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	126			BTB.		Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.377A>G	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230598	0.79688	.	.	ENSG00000145332	ENST00000273963;ENST00000512111	D;D	0.89343	-2.5;-2.5	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.109040	0.64402	D	0.000004	D	0.96775	0.8947	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98314	1.0525	10	0.87932	D	0	.	16.0555	0.80801	0.0:0.0:0.0:1.0	.	126	Q9P2G9	KLHL8_HUMAN	C	126	ENSP00000273963:Y126C;ENSP00000424131:Y126C	ENSP00000273963:Y126C	Y	-	2	0	KLHL8	88325815	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.989000	0.88205	2.185000	0.69588	0.528000	0.53228	TAT		0.423	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			35	46	0	0	0	1	0	35	46				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			5	62	0	0	0	1	0	5	62				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	55	0	0	0	1	0	3	55				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	73	0	0	0	1	0	3	73				
CPSF1	29894	broad.mit.edu	37	8	145626338	145626338	+	Silent	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:145626338G>A	ENST00000349769.3	-	6	613	c.519C>T	c.(517-519)caC>caT	p.H173H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	173					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGAGCCCCTCGTGCTCCTCAG	0.721																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(517-519)caC>caT		cleavage and polyadenylation specific factor 1, 160kDa							26.0	28.0	27.0					8																	145626338		2202	4300	6502	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626338G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.519C>T	8.37:g.145626338G>A							p.H173H	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		6	613	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		173					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.519C>T	CCDS34966.1																																																																																				0.721	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		9	13	0	0	0	1	0	9	13				
DISP1	84976	broad.mit.edu	37	1	223179138	223179138	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:223179138T>G	ENST00000284476.6	+	8	4563	c.4399T>G	c.(4399-4401)Tta>Gta	p.L1467V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1467					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTAATCATTTAATGGGGGA	0.433																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4399-4401)Tta>Gta		dispatched homolog 1 (Drosophila)							75.0	76.0	76.0					1																	223179138		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223179138T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4399T>G	1.37:g.223179138T>G	ENSP00000284476:p.Leu1467Val						p.L1467V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4563	+			1467					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4399T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439221	0.25900	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.52	-3.0	0.05480	.	1.556380	0.03391	N	0.201937	T	0.77791	0.4183	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64681	-0.6350	10	0.15499	T	0.54	0.0872	1.4606	0.02394	0.222:0.3236:0.1151:0.3393	.	1467	Q96F81	DISP1_HUMAN	V	1467	ENSP00000284476:L1467V	ENSP00000284476:L1467V	L	+	1	2	DISP1	221245761	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	0.006000	0.13152	-0.435000	0.07264	-0.250000	0.11733	TTA		0.433	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		20	40	0	0	0	1	0	20	40				
FRMD6	122786	broad.mit.edu	37	14	52188776	52188776	+	Silent	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:52188776G>A	ENST00000344768.5	+	12	1666	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	FRMD6_ENST00000356218.4_Silent_p.S482S|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000395718.2_Silent_p.S482S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000553556.1_Silent_p.S132S			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	490					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGCTCATGTCGCGGAAGCTGA	0.483																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1444-1446)tcG>tcA		FERM domain containing 6							100.0	95.0	96.0					14																	52188776		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188776G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1470G>A	14.37:g.52188776G>A						FRMD6_ENST00000553556.1_Silent_p.S132S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000344768.5_Silent_p.S490S|FRMD6_ENST00000356218.4_Silent_p.S482S	p.S482S	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1731	+	all_epithelial(31;0.0163)|Breast(41;0.089)		490					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1446G>A	CCDS58318.1																																																																																				0.483	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		41	35	0	0	0	1	0	41	35				
KIFC3	3801	broad.mit.edu	37	16	57798074	57798074	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:57798074C>T	ENST00000379655.4	-	12	1855	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	533	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTACGTCTTGCCGGCGCCCGT	0.597																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1597-1599)gGc>gAc		kinesin family member C3							74.0	65.0	68.0					16																	57798074		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57798074C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1598G>A	16.37:g.57798074C>T	ENSP00000368976:p.Gly533Asp					KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D	p.G533D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1855	-		all_neural(199;0.224)	533			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1598G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	c	16.33	3.092787	0.56075	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.02	4.07	0.47477	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	H	0.99545	4.62	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97106	0.9801	10	0.87932	D	0	.	12.0794	0.53662	0.0:0.9164:0.0:0.0836	.	555;475;391;431;238;533;394	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	D	533;533;394;555;431;391;475	ENSP00000368976:G533D;ENSP00000401696:G533D;ENSP00000396399:G394D;ENSP00000442008:G555D;ENSP00000438805:G431D;ENSP00000444012:G391D;ENSP00000444884:G475D	ENSP00000368976:G533D	G	-	2	0	KIFC3	56355575	1.000000	0.71417	0.995000	0.50966	0.035000	0.12851	7.781000	0.85668	1.121000	0.41925	0.552000	0.68991	GGC		0.597	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		3	49	0	0	0	1	0	3	49				
UBR4	23352	broad.mit.edu	37	1	19439194	19439194	+	Silent	SNP	G	G	A	rs148095267		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:19439194G>A	ENST00000375254.3	-	78	11652	c.11625C>T	c.(11623-11625)tgC>tgT	p.C3875C	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375267.2_Silent_p.C3875C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3875					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCGAGGCGCAGCCATAGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.0		0.001	False		,,,				2504	0.0					ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11623-11625)tgC>tgT		ubiquitin protein ligase E3 component n-recognin 4		G		0,4406		0,0,2203	193.0	185.0	187.0		11625	-5.3	0.9	1	dbSNP_134	187	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UBR4	NM_020765.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		3875/5184	19439194	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19439194G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11625C>T	1.37:g.19439194G>A						UBR4_ENST00000375254.3_Silent_p.C3875C|UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375218.3_3'UTR	p.C3875C			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	78	11628	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3875					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.11625C>T	CCDS189.1																																																																																				0.612	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	172	0	0	0	1	0	8	172				
TDRD1	56165	broad.mit.edu	37	10	115964540	115964540	+	Silent	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:115964540T>C	ENST00000369280.1	+	10	1645	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000251864.2_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	395					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GCAGTGATTGTATCAAAGCTA	0.398																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1183-1185)tgT>tgC		tudor domain containing 1							102.0	92.0	96.0					10																	115964540		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115964540T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1185T>C	10.37:g.115964540T>C						TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000369280.1_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C	p.C395C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	10	1338	+		Colorectal(252;0.172)|Breast(234;0.188)	395					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.1185T>C																																																																																					0.398	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			25	10	0	0	0	1	0	25	10				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	72	0	0	0	1	0	4	72				
AAGAB	79719	broad.mit.edu	37	15	67529108	67529108	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr15:67529108C>T	ENST00000261880.5	-	2	228	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	AAGAB_ENST00000561452.1_De_novo_Start_InFrame|AAGAB_ENST00000542650.1_De_novo_Start_InFrame	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	42					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TAAAATCTCACAGCATCATTG	0.343																																						ENST00000261880.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(124-126)Gtg>Atg		alpha- and gamma-adaptin binding protein							96.0	87.0	90.0					15																	67529108		1863	4096	5959	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67529108C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.124G>A	15.37:g.67529108C>T	ENSP00000261880:p.Val42Met					AAGAB_ENST00000542650.1_De_novo_Start_InFrame|AAGAB_ENST00000561452.1_De_novo_Start_InFrame	p.V42M	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			2	228	-			42					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.124G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707028	0.89018	.	.	ENSG00000103591	ENST00000261880	D	0.81499	-1.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	L	0.59912	1.85	0.80722	D	1	D	0.62365	0.991	P	0.59643	0.861	D	0.86710	0.1935	10	0.54805	T	0.06	-19.6985	19.884	0.96908	0.0:1.0:0.0:0.0	.	42	Q6PD74	AAGAB_HUMAN	M	42	ENSP00000261880:V42M	ENSP00000261880:V42M	V	-	1	0	AAGAB	65316162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.850000	0.75420	2.782000	0.95742	0.655000	0.94253	GTG		0.343	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		15	30	0	0	0	1	0	15	30				
ZNF485	220992	broad.mit.edu	37	10	44112341	44112341	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:44112341A>G	ENST00000361807.3	+	5	1044	c.850A>G	c.(850-852)Act>Gct	p.T284A	ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A|ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGATAATTCAACTGTGTTGGA	0.403																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(850-852)Act>Gct		zinc finger protein 485							80.0	86.0	84.0					10																	44112341		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112341A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.850A>G	10.37:g.44112341A>G	ENSP00000354694:p.Thr284Ala					ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A	p.T284A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1044	+			284					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.850A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	0.927	-0.714082	0.03206	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07216	3.21;3.21;3.21	2.19	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	N	0.21545	0.675	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.46233	-0.9206	9	0.17832	T	0.49	.	4.8524	0.13543	0.8077:0.0:0.1923:0.0	.	284	Q8NCK3	ZN485_HUMAN	A	284;193;284	ENSP00000354694:T284A;ENSP00000363560:T193A;ENSP00000363558:T284A	ENSP00000354694:T284A	T	+	1	0	ZNF485	43432347	0.000000	0.05858	0.151000	0.22473	0.933000	0.57130	-1.241000	0.02911	0.291000	0.22468	0.260000	0.18958	ACT		0.403	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		22	37	0	0	0	1	0	22	37				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	64	0	0	0	1	0	33	64				
HELB	92797	broad.mit.edu	37	12	66703572	66703572	+	Silent	SNP	T	T	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:66703572T>A	ENST00000247815.4	+	4	923	c.864T>A	c.(862-864)acT>acA	p.T288T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	288					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCTGATGACTGATTTGGAGA	0.383																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(862-864)acT>acA		helicase (DNA) B							160.0	156.0	157.0					12																	66703572		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703572T>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.864T>A	12.37:g.66703572T>A							p.T288T	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	923	+			288					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.864T>A	CCDS8976.1																																																																																				0.383	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			49	61	0	0	0	1	0	49	61				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	71	0	0	0	1	0	4	71				
CUL4B	8450	broad.mit.edu	37	X	119673128	119673128	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:119673128A>G	ENST00000404115.3	-	14	2191	c.1790T>C	c.(1789-1791)aTc>aCc	p.I597T	CUL4B_ENST00000371322.5_Missense_Mutation_p.I579T|CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	597					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTACCATAGATAAATCTAAA	0.289																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1735-1737)aTc>aCc		cullin 4B							48.0	42.0	44.0					X																	119673128		2195	4290	6485	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119673128A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1790T>C	X.37:g.119673128A>G	ENSP00000384109:p.Ile597Thr					CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T|CUL4B_ENST00000404115.3_Missense_Mutation_p.I597T	p.I579T	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			12	1797	-			597					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1736T>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131297	0.77549	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.77750	-1.12;-1.12;-1.12	5.69	5.69	0.88448	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91055	0.4881	9	.	.	.	-10.178	14.008	0.64478	1.0:0.0:0.0:0.0	.	401;597;579	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	T	579;584;597	ENSP00000360373:I579T;ENSP00000338919:I584T;ENSP00000384109:I597T	.	I	-	2	0	CUL4B	119557156	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.905000	0.55150	0.486000	0.48141	ATC		0.289	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		17	24	0	0	0	1	0	17	24				
SYT4	6860	broad.mit.edu	37	18	40850545	40850545	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr18:40850545T>C	ENST00000255224.3	-	4	1407	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	347	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGGTGCATTTCTTCACATGA	0.408																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1039-1041)Aaa>Gaa		synaptotagmin IV							104.0	106.0	105.0					18																	40850545		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850545T>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1039A>G	18.37:g.40850545T>C	ENSP00000255224:p.Lys347Glu					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	p.K347E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1407	-			347			C2 2.		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1039A>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258531	0.80246	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.70749	-0.51	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.75085	2.285	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.82108	-0.0620	10	0.87932	D	0	.	15.7524	0.77997	0.0:0.0:0.0:1.0	.	329;347	B4DEU3;Q9H2B2	.;SYT4_HUMAN	E	347;152	ENSP00000255224:K347E	ENSP00000255224:K347E	K	-	1	0	SYT4	39104543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.136000	0.66102	0.533000	0.62120	AAA		0.408	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		56	60	0	0	0	1	0	56	60				
NF1	4763	broad.mit.edu	37	17	29654516	29654516	+	Splice_Site	SNP	G	G	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:29654516G>C	ENST00000358273.4	+	38	5651		c.e38-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCACTTTCCAGGTTGGTTCTA	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e38-1		neurofibromin 1							36.0	33.0	34.0					17																	29654516		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654516G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5269-1G>C	17.37:g.29654516G>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	38	5651	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569541	0.86439	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5155	0.95162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26678642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.434000	0.97515	2.846000	0.97976	0.644000	0.83932	.		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	44	2	0	0	0	1	0	44	2				
FAM160A2	84067	broad.mit.edu	37	11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr11:6233023C>T	ENST00000449352.2	-	12	2895	c.2632G>A	c.(2632-2634)Gca>Aca	p.A878T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A892T			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627																																						ENST00000265978.4																			1	Substitution - Missense(1)	p.A892T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2674-2676)Gca>Aca		family with sequence similarity 160, member A2							77.0	88.0	84.0					11																	6233023		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6233023C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2632G>A	11.37:g.6233023C>T	ENSP00000416918:p.Ala878Thr					FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T|FAM160A2_ENST00000529360.1_5'UTR	p.A892T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			12	3032	-			878					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2674G>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699408	0.48307	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09255	3.0;3.0	5.29	4.38	0.52667	.	0.114837	0.64402	N	0.000019	T	0.12347	0.0300	L	0.53249	1.67	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.30716	0.119;0.008	T	0.05886	-1.0858	10	0.13470	T	0.59	3.2753	12.4312	0.55575	0.0:0.918:0.0:0.082	.	878;892	Q8N612;Q8N612-2	F16A2_HUMAN;.	T	878;892	ENSP00000416918:A878T;ENSP00000265978:A892T	ENSP00000265978:A892T	A	-	1	0	FAM160A2	6189599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.423000	0.66458	1.229000	0.43630	0.650000	0.86243	GCA		0.627	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		4	151	0	0	0	1	0	4	151				
OSBPL2	9885	broad.mit.edu	37	20	60854344	60854344	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr20:60854344G>A	ENST00000313733.3	+	7	825	c.623G>A	c.(622-624)gGc>gAc	p.G208D	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	208					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGTTCTGGGGCAAAAGCGTG	0.587																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(622-624)gGc>gAc		oxysterol binding protein-like 2							100.0	81.0	87.0					20																	60854344		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60854344G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.623G>A	20.37:g.60854344G>A	ENSP00000316649:p.Gly208Asp					OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D	p.G208D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	825	+	Breast(26;7.76e-09)		208					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.623G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275400	0.95459	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951;ENST00000253000;ENST00000448156	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	H	0.98951	4.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.88718	0.3227	10	0.87932	D	0	-6.9448	18.0705	0.89404	0.0:0.0:1.0:0.0	.	116;196;208	E7ET92;Q9H1P3-2;Q9H1P3	.;.;OSBL2_HUMAN	D	196;208;116;79;77	ENSP00000350755:G196D;ENSP00000316649:G208D;ENSP00000397602:G116D;ENSP00000415751:G77D	ENSP00000253000:G79D	G	+	2	0	OSBPL2	60287739	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.677000	0.98645	2.418000	0.82041	0.561000	0.74099	GGC		0.587	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		3	45	0	0	0	1	0	3	45				
NCOR1	9611	broad.mit.edu	37	17	15971338	15971338	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:15971338C>T	ENST00000268712.3	-	32	4868	c.4611G>A	c.(4609-4611)ggG>ggA	p.G1537G	NCOR1_ENST00000395851.1_Silent_p.G1553G|NCOR1_ENST00000395857.3_Silent_p.G121G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1537	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGGTCCACCCCAGGCACTG	0.542																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4609-4611)ggG>ggA		nuclear receptor corepressor 1							89.0	79.0	83.0					17																	15971338		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971338C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4611G>A	17.37:g.15971338C>T						NCOR1_ENST00000395857.3_Silent_p.G121G|NCOR1_ENST00000395851.1_Silent_p.G1553G	p.G1537G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4868	-			1537			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4611G>A	CCDS11175.1																																																																																				0.542	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		22	36	0	0	0	1	0	22	36				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	73	0	0	0	1	0	4	73				
PRPF8	10594	broad.mit.edu	37	17	1582120	1582120	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:1582120C>T	ENST00000572621.1	-	11	1920	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	552					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTAGTCAAACGCAGAACTTC	0.493																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1654-1656)cGt>cAt		pre-mRNA processing factor 8							75.0	67.0	70.0					17																	1582120		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582120C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1655G>A	17.37:g.1582120C>T	ENSP00000460348:p.Arg552His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H	p.R552H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	11	1920	-			552					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1655G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424258	0.96111	.	.	ENSG00000174231	ENST00000304992	D	0.82619	-1.63	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.94385	3.53	0.80722	D	1	P	0.42375	0.778	P	0.45406	0.479	D	0.92221	0.5784	10	0.72032	D	0.01	-7.679	20.6439	0.99570	0.0:1.0:0.0:0.0	.	552	Q6P2Q9	PRP8_HUMAN	H	552	ENSP00000304350:R552H	ENSP00000304350:R552H	R	-	2	0	PRPF8	1528870	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.703000	0.84585	2.890000	0.99128	0.650000	0.86243	CGT		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			23	30	0	0	0	1	0	23	30				
LRCH1	23143	broad.mit.edu	37	13	47266679	47266679	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr13:47266679C>T	ENST00000389798.3	+	8	1220	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	LRCH1_ENST00000389797.3_Silent_p.D341D|LRCH1_ENST00000311191.6_Silent_p.D341D	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	341										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCCTTCTGACGAAGACACTG	0.413																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1021-1023)gaC>gaT		leucine-rich repeats and calponin homology (CH) domain containing 1							161.0	131.0	141.0					13																	47266679		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47266679C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1023C>T	13.37:g.47266679C>T						LRCH1_ENST00000389797.3_Silent_p.D341D|LRCH1_ENST00000389798.3_Silent_p.D341D	p.D341D	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1252	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	341					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.1023C>T	CCDS31972.1																																																																																				0.413	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		64	81	0	0	0	1	0	64	81				
ZNF560	147741	broad.mit.edu	37	19	9578508	9578508	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:9578508C>T	ENST00000301480.4	-	10	1328	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	372					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)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTTTTATCCCAATGTGGGT	0.403																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1114-1116)gGg>gAg		zinc finger protein 560							172.0	174.0	174.0					19																	9578508		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578508C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1115G>A	19.37:g.9578508C>T	ENSP00000301480:p.Gly372Glu						p.G372E	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1328	-			372					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1115G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685279	0.47991	.	.	ENSG00000198028	ENST00000301480	T	0.25749	1.78	2.02	-1.85	0.07784	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33000	0.0848	L	0.37466	1.105	0.29060	N	0.883982	D	0.89917	1.0	D	0.91635	0.999	T	0.27434	-1.0074	9	0.59425	D	0.04	.	5.2363	0.15448	0.3417:0.465:0.1933:0.0	.	372	Q96MR9	ZN560_HUMAN	E	372	ENSP00000301480:G372E	ENSP00000301480:G372E	G	-	2	0	ZNF560	9439508	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.694000	0.25512	-0.298000	0.08921	0.491000	0.48974	GGG		0.403	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		48	54	0	0	0	1	0	48	54				
NEBL	10529	broad.mit.edu	37	10	21098829	21098829	+	Splice_Site	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:21098829T>C	ENST00000377122.4	-	25	2915		c.e25-2		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGAGGTCTTTTGCCAAAA	0.393																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e25-2		nebulette							76.0	76.0	76.0					10																	21098829		2203	4300	6503	SO:0001630	splice_region_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21098829T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2519-2A>G	10.37:g.21098829T>C						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron		NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			25	2915	-								B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Splice_Site	SNP	ENST00000377122.4	37		CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798411	0.70567	.	.	ENSG00000078114	ENST00000377122	.	.	.	6.05	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0597	0.36427	0.0:0.0649:0.1258:0.8092	.	.	.	.	.	-1	.	.	.	-	.	.	NEBL	21138835	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.417000	0.80156	0.473000	0.27368	0.528000	0.53228	.		0.393	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	Intron	18	32	0	0	0	1	0	18	32				
BLVRB	645	broad.mit.edu	37	19	40953796	40953796	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:40953796C>T	ENST00000263368.4	-	5	772	c.621G>A	c.(619-621)taG>taA	p.*207*	BLVRB_ENST00000595483.1_Silent_p.*164*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537																																						ENST00000263368.4																			0				large_intestine(3)|lung(3)	6						c.(619-621)taG>taA		biliverdin reductase B (flavin reductase (NADPH))	NADH(DB00157)|Riboflavin(DB00140)						140.0	116.0	124.0					19																	40953796		2203	4300	6503	SO:0001819	synonymous_variant	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40953796C>T	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.621G>A	19.37:g.40953796C>T						BLVRB_ENST00000595483.1_Silent_p.*164*	p.*207*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	772	-			0					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	c.621G>A	CCDS33029.1																																																																																				0.537	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			15	52	0	0	0	1	0	15	52				
ACSL4	2182	broad.mit.edu	37	X	108902736	108902736	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:108902736G>T	ENST00000469796.2	-	15	2221	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K|ACSL4_ENST00000340800.2_Missense_Mutation_p.Q609K			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	609					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACATAGGACTGATCACTAAAA	0.323																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1825-1827)Cag>Aag		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						78.0	72.0	74.0					X																	108902736		2202	4300	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108902736G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1825C>A	X.37:g.108902736G>T	ENSP00000419171:p.Gln609Lys					ACSL4_ENST00000469796.2_Missense_Mutation_p.Q609K|ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K	p.Q609K	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			16	2329	-			609					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1825C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724499	0.15439	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10382	2.88;2.88;2.88	5.18	5.18	0.71444	.	0.176446	0.51477	D	0.000094	T	0.10208	0.0250	L	0.41906	1.305	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.08249	-1.0731	10	0.02654	T	1	-10.0998	18.1577	0.89699	0.0:0.0:1.0:0.0	.	609	O60488	ACSL4_HUMAN	K	568;609;609	ENSP00000262835:Q568K;ENSP00000419171:Q609K;ENSP00000339787:Q609K	ENSP00000339787:Q609K	Q	-	1	0	ACSL4	108789392	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.810000	0.99221	2.312000	0.78011	0.519000	0.50382	CAG		0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		39	67	1	0	3.21399e-22	1	3.27464e-22	39	67				
FKBP4	2288	broad.mit.edu	37	12	2909744	2909744	+	Splice_Site	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:2909744G>A	ENST00000001008.4	+	8	1219		c.e8+1		RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTGTAACAAGGTGAGGCCCCC	0.547																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.e8+1		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						35.0	32.0	33.0					12																	2909744		2203	4300	6503	SO:0001630	splice_region_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2909744G>A	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1032+1G>A	12.37:g.2909744G>A						RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA		NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		8	1219	+								D3DUQ1|Q9UCP1|Q9UCV7	Splice_Site	SNP	ENST00000001008.4	37		CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233692	0.79688	.	.	ENSG00000004478	ENST00000001008	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6606	0.88192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKBP4	2780005	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.314000	0.96306	2.493000	0.84123	0.561000	0.74099	.		0.547	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		Intron	29	31	0	0	0	1	0	29	31				
ADAMTS3	9508	broad.mit.edu	37	4	73280660	73280660	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:73280660T>A	ENST00000286657.4	-	4	569	c.533A>T	c.(532-534)gAg>gTg	p.E178V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	178					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGAAATACTCTTCATTATC	0.353																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(532-534)gAg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							133.0	133.0	133.0					4																	73280660		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280660T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.533A>T	4.37:g.73280660T>A	ENSP00000286657:p.Glu178Val						p.E178V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	569	-			178					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.533A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195600	0.78902	.	.	ENSG00000156140	ENST00000286657	T	0.07567	3.18	5.15	5.15	0.70609	Peptidase M12B, propeptide (1);	0.000000	0.64402	U	0.000015	T	0.26702	0.0653	M	0.67517	2.055	0.49798	D	0.999823	P	0.47350	0.894	D	0.65684	0.937	T	0.00559	-1.1671	10	0.87932	D	0	.	14.1513	0.65387	0.0:0.0:0.0:1.0	.	178	O15072	ATS3_HUMAN	V	178	ENSP00000286657:E178V	ENSP00000286657:E178V	E	-	2	0	ADAMTS3	73499524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.062000	0.76706	1.930000	0.55929	0.533000	0.62120	GAG		0.353	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			52	74	0	0	0	1	0	52	74				
PMPCB	9512	broad.mit.edu	37	7	102952301	102952301	+	Silent	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr7:102952301T>C	ENST00000249269.4	+	11	1325	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	PMPCB_ENST00000420236.2_Silent_p.Y324Y|PMPCB_ENST00000428154.1_Silent_p.Y429Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	429					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTATGCTATAATAGAAGGA	0.343																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1285-1287)taT>taC		peptidase (mitochondrial processing) beta							84.0	86.0	85.0					7																	102952301		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102952301T>C	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1287T>C	7.37:g.102952301T>C						PMPCB_ENST00000420236.2_Silent_p.Y324Y|PMPCB_ENST00000428154.1_Silent_p.Y429Y	p.Y429Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			11	1325	+			429					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.1287T>C	CCDS5730.1																																																																																				0.343	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		5	47	0	0	0	1	0	5	47				
TTLL5	23093	broad.mit.edu	37	14	76259309	76259309	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:76259309G>A	ENST00000298832.9	+	27	3242	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1013					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAAAAAGAGGGAGAAGA	0.413																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3037-3039)Gag>Aag		tubulin tyrosine ligase-like family, member 5							92.0	80.0	84.0					14																	76259309		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76259309G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3037G>A	14.37:g.76259309G>A	ENSP00000298832:p.Glu1013Lys					TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K	p.E1013K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	27	3242	+			1013					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3037G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884211	0.72410	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.28454	3.56;3.84;1.61;1.62	5.68	5.68	0.88126	.	0.665828	0.16197	N	0.225125	T	0.32102	0.0818	L	0.29908	0.895	0.35393	D	0.790915	P;P;P;P	0.49559	0.688;0.925;0.804;0.561	B;P;B;B	0.47162	0.371;0.54;0.386;0.204	T	0.23048	-1.0199	10	0.32370	T	0.25	.	17.5718	0.87936	0.0:0.0:1.0:0.0	.	1028;87;564;1013	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	K	700;87;1028;1013;564;564;522	ENSP00000450713:E1028K;ENSP00000298832:E1013K;ENSP00000452524:E564K;ENSP00000451946:E522K	ENSP00000286653:E87K	E	+	1	0	TTLL5	75329062	1.000000	0.71417	0.963000	0.40424	0.789000	0.44602	5.867000	0.69597	2.687000	0.91594	0.563000	0.77884	GAG		0.413	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		22	28	0	0	0	1	0	22	28				
SAP30BP	29115	broad.mit.edu	37	17	73695883	73695883	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:73695883C>T	ENST00000584667.1	+	5	585	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAAGAGTTCGGAACATGTC	0.453																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(328-330)Cgg>Tgg		SAP30 binding protein							122.0	134.0	130.0					17																	73695883		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695883C>T	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.328C>T	17.37:g.73695883C>T	ENSP00000462116:p.Arg110Trp					SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W	p.R110W	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	585	+	all_cancers(13;6.42e-08)		110						Missense_Mutation	SNP	ENST00000584667.1	37	c.328C>T	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138735	0.56936	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.59436	1.845	0.80722	D	1	B;P	0.42908	0.01;0.793	B;B	0.31547	0.007;0.132	T	0.60642	-0.7223	9	0.62326	D	0.03	-12.5811	15.4254	0.75045	0.3276:0.6724:0.0:0.0	.	94;110	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	W	110;110;94	.	ENSP00000293208:R94W	R	+	1	2	SAP30BP	71207478	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.939000	0.40213	1.329000	0.45376	0.655000	0.94253	CGG		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		59	86	0	0	0	1	0	59	86				
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)taafs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR	p.*47fs			Q9UBY5	LPAR3_HUMAN			1	177_178	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		7	149						7	149	---	---	---	---
CTBP1	1487	broad.mit.edu	37	4	1232006	1232008	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:1232006_1232008delAGA	ENST00000290921.6	-	2	339_341	c.158_160delTCT	c.(157-162)ttctgc>tgc	p.F53del	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000510568.1_In_Frame_Del_p.F42del|CTBP1_ENST00000382952.3_In_Frame_Del_p.F42del	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	53	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCGCGTCGCAGAAGGCCACAGT	0.665																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(124-129)tgc>t		C-terminal binding protein 1																																				SO:0001651	inframe_deletion	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1232006_1232008delAGA	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.158_160delTCT	4.37:g.1232006_1232008delAGA	ENSP00000290921:p.Phe53del					CTBP1_ENST00000290921.6_In_Frame_Del_p.FC53del|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000382952.3_In_Frame_Del_p.FC42del	p.FC42del			Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	2	716_718	-			53			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	In_Frame_Del	DEL	ENST00000290921.6	37	c.125_127delTCT	CCDS3348.1																																																																																				0.665	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		38	61						38	61	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCCGCCAGTCCGCCGCCGCCGC	0.739																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(118-123)gga>gg		TBC1 domain family, member 9 (with GRAM domain)																																				SO:0001651	inframe_deletion	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141677078_141677080delCCG	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.120_122delCGG	4.37:g.141677087_141677089delCCG	ENSP00000411197:p.Gly41del						p.GG40del	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			1	194_196	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	40					A6H8U8|D3DNZ1|O94958	In_Frame_Del	DEL	ENST00000442267.2	37	c.120_122delCGG	CCDS47136.1																																																																																				0.739	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		3	6						3	6	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87865403	87865404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr6:87865403_87865404insT	ENST00000369577.3	+	1	137_138	c.94_95insT	c.(94-96)ctgfs	p.L32fs	ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.L32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.L32fs|RP11-393I2.4_ENST00000606274.1_RNA	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	32						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTCCAGGAGCTGGAGCTACAG	0.703																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(94-96)ggafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87865403_87865404insT	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.95dupT	6.37:g.87865404_87865404dupT	ENSP00000358590:p.Leu32fs					ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.G32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.G32fs	p.G32fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	1	137_138	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	32					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	ENST00000369577.3	37	c.94_95insT	CCDS47457.1																																																																																				0.703	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	5						6	5	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128255832	128255833	+	RNA	INS	-	-	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr7:128255832_128255833insT	ENST00000605862.1	+	0	758																											TATAGAAATGATTTTTTTTTTC	0.282																																						ENST00000605862.1																			0																																																			0							g.chr7:128255832_128255833insT																													7.37:g.128255842_128255842dupT														0	758	+									RNA	INS	ENST00000605862.1	37																																																																																						0.282	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			2	4						2	4	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		8	123						8	123	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136648690	136648691	+	Frame_Shift_Ins	INS	-	-	TG	rs202226819		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr9:136648690_136648691insTG	ENST00000371850.3	-	19	1688_1689	c.1657_1658insCA	c.(1657-1659)atgfs	p.M553fs	VAV2_ENST00000371851.1_Frame_Shift_Ins_p.M543fs|VAV2_ENST00000406606.3_Frame_Shift_Ins_p.M543fs	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	553					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTGGTACACATGTATCCCTGG	0.629																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1627-1629)gtgfs		vav 2 guanine nucleotide exchange factor																																				SO:0001589	frameshift_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136648690_136648691insTG		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1656_1657dupCA	9.37:g.136648691_136648692dupTG	ENSP00000360916:p.Met553fs					VAV2_ENST00000406606.3_Frame_Shift_Ins_p.V543fs|VAV2_ENST00000371850.3_Frame_Shift_Ins_p.V553fs	p.V543fs			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	17	1952_1953	-			553					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Frame_Shift_Ins	INS	ENST00000371850.3	37	c.1627_1628insCA	CCDS48053.1																																																																																				0.629	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			11	43						11	43	---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13534788	13534788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:13534788delT	ENST00000396900.2	-	5	659	c.660delA	c.(658-660)aaafs	p.K220fs	BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs|BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000341083.3_Frame_Shift_Del_p.K168fs			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	220	Poly-Lys.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGGGGGCACTTTTTTCTTTT	0.458																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(502-504)aafs		BEN domain containing 7							77.0	81.0	80.0					10																	13534788		2203	4300	6503	SO:0001589	frameshift_variant	222389						protein binding	g.chr10:13534788delT	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.660delA	10.37:g.13534788delT	ENSP00000380108:p.Lys220fs					BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000396900.2_Frame_Shift_Del_p.K220fs|BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs	p.K168fs	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			5	800	-			220					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Frame_Shift_Del	DEL	ENST00000396900.2	37	c.504delA																																																																																					0.458	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		51	75						51	75	---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31091567	31091569	+	In_Frame_Del	DEL	CAG	CAG	-	rs535387543		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:31091567_31091569delCAG	ENST00000458591.2	+	1	250_252	c.23_25delCAG	c.(22-27)acagca>aca	p.A13del	SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000544052.2_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcggcagcgacagcagcagcagc	0.645																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(22-27)aca>a		sec1 family domain containing 1			,	103,19,3358		7,0,89,1,17,1626					,		0.0			33	6,57,6801		1,0,4,1,55,3371	no	utr-5,codingComplex	SCFD1	NM_182835.1,NM_016106.2	,	8,0,93,2,72,4997	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9178,3.5057,1.7885	,	,		109,76,10159				SO:0001651	inframe_deletion	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31091567_31091569delCAG	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.23_25delCAG	14.37:g.31091576_31091578delCAG	ENSP00000390783:p.Ala13del					SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR	p.TA8del	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	1	250_252	+	Hepatocellular(127;0.0877)		8			Poly-Ala.		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	In_Frame_Del	DEL	ENST00000458591.2	37	c.23_25delCAG	CCDS9639.1																																																																																				0.645	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	5						4	5	---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58991096	58991096	+	Splice_Site	DEL	T	T	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:58991096delT	ENST00000594369.1	+	5	1093		c.e5+2		ZNF446_ENST00000596341.1_Splice_Site|ZNF446_ENST00000335841.4_Intron	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTCCCTGGGTGAGGACCAGC	0.677																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.e5+2		zinc finger protein 446							66.0	61.0	63.0					19																	58991096		2203	4300	6503	SO:0001630	splice_region_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991096delT		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.712+2T>-	19.37:g.58991096delT						ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site				Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	5	2932	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)							Splice_Site	DEL	ENST00000594369.1	37		CCDS12982.1																																																																																				0.677	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908	Intron	2	4						2	4	---	---	---	---
