#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
JAK3	3718	broad.mit.edu	37	19	17950419	17950419	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:17950419T>A	ENST00000527670.1	-	9	1337	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000458235.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	436	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.G436G(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAAGGAAGGTTCCTGTGGGGC	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		2	Substitution - coding silent(2)	p.G436G(2)	prostate(2)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1306-1308)ggA>ggT		Janus kinase 3							34.0	31.0	32.0					19																	17950419		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950419T>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1308A>T	19.37:g.17950419T>A						JAK3_ENST00000527670.1_Silent_p.G436G|JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR	p.G436G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1407	-			436			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1308A>T	CCDS12366.1																																																																																				0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	30	0	0	0	1	0	5	30				
ZSCAN1	284312	broad.mit.edu	37	19	58565060	58565060	+	Silent	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:58565060C>A	ENST00000282326.1	+	6	1115	c.868C>A	c.(868-870)Cgg>Agg	p.R290R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	290					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.R290R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGAGGTGGGCGGCCCTTCCA	0.652																																						ENST00000282326.1																			1	Substitution - coding silent(1)	p.R290R(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(868-870)Cgg>Agg		zinc finger and SCAN domain containing 1							62.0	60.0	61.0					19																	58565060		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565060C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.868C>A	19.37:g.58565060C>A							p.R290R	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1115	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	290					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.868C>A	CCDS12969.1																																																																																				0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		4	100	1	0	0.00024832	1	0.000256462	4	100				
EBF2	64641	broad.mit.edu	37	8	25745360	25745360	+	Missense_Mutation	SNP	C	C	T	rs199818972		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr8:25745360C>T	ENST00000520164.1	-	9	1417	c.880G>A	c.(880-882)Gag>Aag	p.E294K	EBF2_ENST00000535548.1_Missense_Mutation_p.E25K|EBF2_ENST00000408929.3_Missense_Mutation_p.E146K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	294	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E294K(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGCTTACCTCGCTCCATACA	0.463																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			2	Substitution - Missense(2)	p.E294K(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(880-882)Gag>Aag		early B-cell factor 2		C	LYS/GLU	0,3976		0,0,1988	100.0	94.0	96.0		880	6.1	1.0	8		96	1,8389		0,1,4194	no	missense	EBF2	NM_022659.2	56	0,1,6182	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	294/576	25745360	1,12365	1988	4195	6183	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25745360C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.880G>A	8.37:g.25745360C>T	ENSP00000430241:p.Glu294Lys					EBF2_ENST00000535548.1_Missense_Mutation_p.E25K|EBF2_ENST00000408929.3_Missense_Mutation_p.E146K	p.E294K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	9	1417	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	294			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.880G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722706	0.89298	0.0	1.19E-4	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76316	-1.01;-1.01;0.94	6.08	6.08	0.98989	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.82630	2.6	0.80722	D	1	P	0.40282	0.711	B	0.35470	0.203	T	0.82311	-0.0520	10	0.52906	T	0.07	-1.4851	20.6634	0.99662	0.0:1.0:0.0:0.0	.	294	Q9HAK2	COE2_HUMAN	K	294;146;25	ENSP00000430241:E294K;ENSP00000386178:E146K;ENSP00000437909:E25K	ENSP00000386178:E146K	E	-	1	0	EBF2	25801277	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAG		0.463	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		37	58	0	0	0	1	0	37	58				
CRB1	23418	broad.mit.edu	37	1	197313415	197313415	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:197313415A>G	ENST00000367400.3	+	3	792	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	219	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V219V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAAAGGTGTAAACTGTGAAT	0.398																																						ENST00000367400.3																			1	Substitution - coding silent(1)	p.V219V(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(655-657)gtA>gtG		crumbs homolog 1 (Drosophila)							153.0	156.0	155.0					1																	197313415		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313415A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.657A>G	1.37:g.197313415A>G						CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000538660.1_Silent_p.V219V	p.V219V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			3	792	+			219			EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.657A>G	CCDS1390.1																																																																																				0.398	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	397	0	0	0	1	0	6	397				
EML1	2009	broad.mit.edu	37	14	100405575	100405575	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:100405575G>A	ENST00000262233.6	+	21	2372	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	EML1_ENST00000327921.9_Missense_Mutation_p.V733I|EML1_ENST00000334192.4_Missense_Mutation_p.V764I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	745	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.V764I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCAATGCCGTCTGTCGGGC	0.562																																						ENST00000262233.6																			1	Substitution - Missense(1)	p.V764I(1)	prostate(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2233-2235)Gtc>Atc		echinoderm microtubule associated protein like 1							124.0	110.0	115.0					14																	100405575		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405575G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2233G>A	14.37:g.100405575G>A	ENSP00000262233:p.Val745Ile					EML1_ENST00000334192.4_Missense_Mutation_p.V764I|EML1_ENST00000327921.9_Missense_Mutation_p.V733I	p.V745I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2372	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	745					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2233G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974659	0.34848	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.20738	2.05;2.05;2.05	4.56	2.67	0.31697	.	0.208970	0.42053	D	0.000761	T	0.21801	0.0525	M	0.68952	2.095	0.46499	D	0.999071	B;B;B	0.22851	0.008;0.076;0.001	B;B;B	0.21151	0.005;0.033;0.003	T	0.06588	-1.0818	10	0.52906	T	0.07	-15.228	9.1438	0.36919	0.2434:0.0:0.7566:0.0	.	733;745;764	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	I	733;745;764;764	ENSP00000327384:V733I;ENSP00000262233:V745I;ENSP00000334314:V764I	ENSP00000262233:V745I	V	+	1	0	EML1	99475328	1.000000	0.71417	0.356000	0.25785	0.438000	0.31896	3.852000	0.55934	1.032000	0.39892	0.561000	0.74099	GTC		0.562	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		36	99	0	0	0	1	0	36	99				
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.R455H(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1363-1365)cGt>cAt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95.0	86.0	89.0					5																	153078545		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078545G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1364G>A	5.37:g.153078545G>A	ENSP00000285900:p.Arg455His					GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	p.R455H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1707	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	455					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1364G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045356	0.75846	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.67;1.67;1.09;1.67;1.67;1.67;1.09	5.44	4.58	0.56647	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117144	0.64402	D	0.000015	T	0.42810	0.1219	L	0.37507	1.11	0.40583	D	0.98141	D;D;B;D;P;B	0.54207	0.965;0.965;0.334;0.965;0.897;0.09	P;P;B;P;B;B	0.52109	0.69;0.69;0.105;0.69;0.439;0.042	T	0.43556	-0.9384	10	0.87932	D	0	.	9.5797	0.39479	0.1592:0.0:0.8408:0.0	.	465;465;375;465;455;455	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	455;455;375;409;455;386;386;465;465	ENSP00000285900:R455H;ENSP00000427920:R375H;ENSP00000339343:R455H;ENSP00000427864:R386H;ENSP00000442108:R386H;ENSP00000428994:R465H;ENSP00000415569:R465H	ENSP00000285900:R455H	R	+	2	0	GRIA1	153058738	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.664000	0.37439	1.300000	0.44818	-0.136000	0.14681	CGT		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			33	75	0	0	0	1	0	33	75				
BARX2	8538	broad.mit.edu	37	11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:129312807A>G	ENST00000281437.4	+	3	662	c.566A>G	c.(565-567)aAg>aGg	p.K189R	BARX2_ENST00000531946.1_Missense_Mutation_p.K67R|BARX2_ENST00000526127.1_Missense_Mutation_p.K44R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	189					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.K189R(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ATGAAATGGAAGAAAATGGTA	0.498																																						ENST00000281437.4																			1	Substitution - Missense(1)	p.K189R(1)	prostate(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(565-567)aAg>aGg		BARX homeobox 2							138.0	123.0	128.0					11																	129312807		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129312807A>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.566A>G	11.37:g.129312807A>G	ENSP00000281437:p.Lys189Arg					BARX2_ENST00000531946.1_Missense_Mutation_p.K67R|BARX2_ENST00000526127.1_Missense_Mutation_p.K44R	p.K189R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	3	662	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	189					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.566A>G	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801801	0.90538	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.97209	-4.29;-4.29;-4.29	5.47	5.47	0.80525	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	L	0.53780	1.695	0.50813	D	0.99989	D	0.76494	0.999	D	0.83275	0.996	D	0.97280	0.9917	10	0.34782	T	0.22	.	14.3869	0.66949	1.0:0.0:0.0:0.0	.	189	Q9UMQ3	BARX2_HUMAN	R	189;44;67	ENSP00000281437:K189R;ENSP00000451113:K44R;ENSP00000450418:K67R	ENSP00000281437:K189R	K	+	2	0	BARX2	128818017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.065000	0.61736	0.533000	0.62120	AAG		0.498	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		7	125	0	0	0	1	0	7	125				
HYPK	25764	broad.mit.edu	37	15	44094002	44094002	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr15:44094002T>G	ENST00000406925.1	+	5	4499	c.388T>G	c.(388-390)Tga>Gga	p.*130G	SERINC4_ENST00000249714.3_5'Flank|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G|SERINC4_ENST00000319327.6_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CCTAACCAACTGATGCGTGCT	0.413																																						ENST00000406925.1																			0											c.(388-390)Tga>Gga		huntingtin interacting protein K							75.0	69.0	71.0					15																	44094002		2198	4298	6496	SO:0001578	stop_lost	25764							g.chr15:44094002T>G	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.388T>G	15.37:g.44094002T>G	ENSP00000384474:p.*130Glyext*11					SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G|SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR	p.*130G						GBM - Glioblastoma multiforme(94;8.1e-07)	5	4499	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Nonstop_Mutation	SNP	ENST00000406925.1	37	c.388T>G	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.379180	0.95945	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	.	.	.	G	130	.	.	X	+	1	0	C15orf63	41881294	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.824000	0.86668	2.241000	0.73720	0.533000	0.62120	TGA		0.413	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		31	92	0	0	0	1	0	31	92				
FERMT2	10979	broad.mit.edu	37	14	53385917	53385917	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:53385917G>T	ENST00000395631.2	-	3	531	c.315C>A	c.(313-315)aaC>aaA	p.N105K	FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K			Q96AC1	FERM2_HUMAN	fermitin family member 2	105					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.N105K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CATACTTCATGTTGGGAAGCT	0.398																																						ENST00000395631.2																		ERO1L/FERMT2(2)	1	Substitution - Missense(1)	p.N105K(1)	prostate(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(313-315)aaC>aaA		fermitin family member 2							125.0	117.0	120.0					14																	53385917		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53385917G>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.315C>A	14.37:g.53385917G>T	ENSP00000378993:p.Asn105Lys					FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K	p.N105K			Q96AC1	FERM2_HUMAN			3	531	-	Breast(41;0.0342)		105					B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.315C>A	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424070	0.83667	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;2.81;2.81	5.71	4.82	0.62117	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	L	0.60067	1.865	0.80722	D	1	D;D;P	0.62365	0.991;0.974;0.955	D;D;P	0.65323	0.931;0.934;0.904	D	0.86438	0.1765	10	0.87932	D	0	.	14.7282	0.69360	0.0695:0.0:0.9305:0.0	.	105;105;105	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	K	105;105;47;105;105;105;61;105	ENSP00000378993:N105K;ENSP00000340391:N105K;ENSP00000450741:N47K;ENSP00000342858:N105K;ENSP00000451084:N105K;ENSP00000382243:N105K;ENSP00000452472:N61K;ENSP00000450506:N105K	ENSP00000340391:N105K	N	-	3	2	FERMT2	52455667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.700000	0.68318	1.430000	0.47334	-0.145000	0.13849	AAC		0.398	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		6	288	1	0	5.9392e-07	1	6.4512e-07	6	288				
PAPPA2	60676	broad.mit.edu	37	1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A	rs199980590		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:176762740G>A	ENST00000367662.3	+	20	6229	c.5065G>A	c.(5065-5067)Gtg>Atg	p.V1689M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1689	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1689M(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTGACCCCGTGATGCTACC	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0					ENST00000367662.3																			2	Substitution - Missense(2)	p.V1689M(2)	upper_aerodigestive_tract(1)|prostate(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5065-5067)Gtg>Atg		pappalysin 2							181.0	179.0	180.0					1																	176762740		1982	4162	6144	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762740G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5065G>A	1.37:g.176762740G>A	ENSP00000356634:p.Val1689Met						p.V1689M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6229	+			1689			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5065G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243919	0.58995	.	.	ENSG00000116183	ENST00000367662	T	0.02216	4.39	5.17	5.17	0.71159	.	0.136470	0.48767	D	0.000161	T	0.11965	0.0291	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00173	-1.1957	10	0.66056	D	0.02	-13.812	15.5755	0.76380	0.0:0.0:1.0:0.0	.	1689	Q9BXP8	PAPP2_HUMAN	M	1689	ENSP00000356634:V1689M	ENSP00000356634:V1689M	V	+	1	0	PAPPA2	175029363	1.000000	0.71417	0.039000	0.18376	0.573000	0.36030	6.833000	0.75334	2.404000	0.81709	0.655000	0.94253	GTG		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	133	0	0	0	1	0	4	133				
LRP1B	53353	broad.mit.edu	37	2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:141473639A>C	ENST00000389484.3	-	37	6897	c.5926T>G	c.(5926-5928)Tta>Gta	p.L1976V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1976					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1976V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.L1976V(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5926-5928)Tta>Gta		low density lipoprotein receptor-related protein 1B							116.0	122.0	120.0					2																	141473639		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473639A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5926T>G	2.37:g.141473639A>C	ENSP00000374135:p.Leu1976Val	TSP Lung(27;0.18)					p.L1976V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6897	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1976					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5926T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510617	0.27036	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88664	-2.41	5.13	3.98	0.46160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.52532	U	0.000075	T	0.73265	0.3565	N	0.05534	-0.03	0.38983	D	0.958989	B	0.15719	0.014	B	0.17722	0.019	T	0.61973	-0.6952	10	0.15952	T	0.53	.	5.7537	0.18160	0.7074:0.1416:0.1509:0.0	.	1976	Q9NZR2	LRP1B_HUMAN	V	1976;1914	ENSP00000374135:L1976V	ENSP00000374135:L1976V	L	-	1	2	LRP1B	141190109	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.827000	0.39102	0.805000	0.34159	-0.263000	0.10527	TTA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		92	216	0	0	0	1	0	92	216				
CATSPERD	257062	broad.mit.edu	37	19	5768180	5768180	+	Splice_Site	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:5768180A>C	ENST00000381624.3	+	18	1622	c.1561A>C	c.(1561-1563)Aaa>Caa	p.K521Q	CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	521					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.K521Q(1)									TGCTTGCAGCAAAGTTTCCGC	0.537																																						ENST00000381624.3																			1	Substitution - Missense(1)	p.K521Q(1)	prostate(1)								c.e18-1		catsper channel auxiliary subunit delta							80.0	78.0	79.0					19																	5768180		2049	4184	6233	SO:0001630	splice_region_variant	257062					integral to membrane		g.chr19:5768180A>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1560-1A>C	19.37:g.5768180A>C						CATSPERD_ENST00000381614.2_Splice_Site_p.K179_splice|CATSPERD_ENST00000309164.7_3'UTR	p.K521_splice	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			18	1622	+			521					Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37	c.1559_splice	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	9.643	1.139406	0.21205	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.24151	1.87;1.87	3.44	-1.2	0.09554	.	1.341520	0.05524	N	0.562664	T	0.21590	0.0520	L	0.47190	1.495	0.09310	N	1	B;P	0.35272	0.358;0.493	B;B	0.32864	0.154;0.107	T	0.30416	-0.9979	10	0.49607	T	0.09	-4.726	6.7767	0.23624	0.6431:0.0:0.3569:0.0	.	447;521	B7WNK5;Q86XM0	.;TM146_HUMAN	Q	447;521;179;192;190	ENSP00000371037:K521Q;ENSP00000371027:K179Q	ENSP00000310546:K192Q	K	+	1	0	TMEM146	5719180	0.010000	0.17322	0.005000	0.12908	0.008000	0.06430	0.061000	0.14366	-0.229000	0.09854	0.449000	0.29647	AAA		0.537	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	Missense_Mutation	39	104	0	0	0	1	0	39	104				
ATP10B	23120	broad.mit.edu	37	5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:159992774C>G	ENST00000327245.5	-	26	4918	c.4072G>C	c.(4072-4074)Gtc>Ctc	p.V1358L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1358					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1358L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCGGGGACAGGGGCAGGC	0.517																																						ENST00000327245.5																			1	Substitution - Missense(1)	p.V1358L(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4072-4074)Gtc>Ctc		ATPase, class V, type 10B							117.0	124.0	122.0					5																	159992774		1875	4115	5990	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992774C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4072G>C	5.37:g.159992774C>G	ENSP00000313600:p.Val1358Leu						p.V1358L	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	4918	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1358					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4072G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	5.426	0.263667	0.10294	.	.	ENSG00000118322	ENST00000327245	T	0.38887	1.11	5.33	-0.59	0.11679	.	1.157530	0.06381	N	0.715206	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21211	-1.0252	9	.	.	.	.	5.1522	0.15015	0.1445:0.4896:0.0:0.3659	.	1358	O94823	AT10B_HUMAN	L	1358	ENSP00000313600:V1358L	.	V	-	1	0	ATP10B	159925352	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.422000	0.07043	-0.027000	0.13873	0.644000	0.83932	GTC		0.517	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		58	234	0	0	0	1	0	58	234				
IKBKAP	8518	broad.mit.edu	37	9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:111662626C>T	ENST00000374647.5	-	19	2351	c.2044G>A	c.(2044-2046)Gtg>Atg	p.V682M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	682					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.V682M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATGGGACACATGATTGCTG	0.458																																						ENST00000374647.5																			1	Substitution - Missense(1)	p.V682M(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2044-2046)Gtg>Atg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							139.0	106.0	117.0					9																	111662626		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111662626C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2044G>A	9.37:g.111662626C>T	ENSP00000363779:p.Val682Met					IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	p.V682M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			19	2351	-			682					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2044G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473353	0.43942	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26957	1.7;1.7	5.24	1.24	0.21308	.	0.855094	0.10870	N	0.625089	T	0.14141	0.0342	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.27262	-1.0079	10	0.46703	T	0.11	-0.0159	7.9156	0.29816	0.0:0.5575:0.0:0.4425	.	682	O95163	ELP1_HUMAN	M	682;333	ENSP00000363779:V682M;ENSP00000439367:V333M	ENSP00000363779:V682M	V	-	1	0	IKBKAP	110702447	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	-0.361000	0.07612	0.026000	0.15269	0.655000	0.94253	GTG		0.458	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			22	108	0	0	0	1	0	22	108				
OR10G9	219870	broad.mit.edu	37	11	123893785	123893785	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123893785C>T	ENST00000375024.1	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D22D(2)|p.D22E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587																																						ENST00000375024.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.D22D(2)|p.D22E(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 9							203.0	192.0	196.0					11																	123893785		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893785C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.66C>T	11.37:g.123893785C>T							p.D22D	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22						Silent	SNP	ENST00000375024.1	37	c.66C>T	CCDS31703.1																																																																																				0.587	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		18	416	0	0	0	1	0	18	416				
RYBP	23429	broad.mit.edu	37	3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:72428496T>C	ENST00000477973.2	-	2	505	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K169R(2)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		ACTTTCTCCTTCTTCTCCTTT	0.408																																						ENST00000477973.1																			2	Substitution - Missense(2)	p.K169R(2)	prostate(2)	prostate(1)|upper_aerodigestive_tract(1)	2						c.(505-507)gAa>gGa		RING1 and YY1 binding protein							152.0	146.0	148.0					3																	72428496		1846	4090	5936	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428496T>C	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.506A>G	3.37:g.72428496T>C	ENSP00000419494:p.Glu169Gly						p.E169G	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	505	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0			Interaction with E4TF1B.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.506A>G		.	.	.	.	.	.	.	.	.	.	T	21.3	4.134719	0.77662	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.63367	0.2505	L	0.48642	1.525	.	.	.	.	.	.	.	.	.	T	0.64499	-0.6393	4	.	.	.	-25.1796	15.9749	0.80054	0.0:0.0:0.0:1.0	.	.	.	.	G	169	.	.	E	-	2	0	RYBP	72511186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.276000	0.72601	2.239000	0.73571	0.533000	0.62120	GAA		0.408	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		65	193	0	0	0	1	0	65	193				
FAM53C	51307	broad.mit.edu	37	5	137681219	137681219	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:137681219G>A	ENST00000239906.5	+	4	1270	c.842G>A	c.(841-843)cGc>cAc	p.R281H	FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T|FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	281								p.R281H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGATGCCCGCAAAACTGGG	0.642																																						ENST00000239906.5																			1	Substitution - Missense(1)	p.R281H(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(841-843)cGc>cAc		family with sequence similarity 53, member C							48.0	58.0	54.0					5																	137681219		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681219G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.842G>A	5.37:g.137681219G>A	ENSP00000239906:p.Arg281His					FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T|FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H	p.R281H	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1270	+			281					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.842G>A	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342235|2.342235	0.41498|0.41498	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.52526|0.51574	0.66|0.7;0.7	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.058156	.|0.64402	.|D	.|0.000005	T|T	0.66489|0.66489	0.2794|0.2794	L|L	0.58101|0.58101	1.795|1.795	0.23391|0.23391	N|N	0.997779|0.997779	P|D	0.51791|0.89917	0.948|1.0	B|D	0.42771|0.72075	0.397|0.976	T|T	0.60219|0.60219	-0.7306|-0.7306	9|10	0.49607|0.87932	T|D	0.09|0	-9.4647|-9.4647	18.4386|18.4386	0.90656|0.90656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91|281	D6RE00|Q9NYF3	.|FA53C_HUMAN	T|H	91|281	ENSP00000425154:A91T|ENSP00000403705:R281H;ENSP00000239906:R281H	ENSP00000425154:A91T|ENSP00000239906:R281H	A|R	+|+	1|2	0|0	FAM53C|FAM53C	137709118|137709118	0.965000|0.965000	0.33210|0.33210	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.118000|2.118000	0.41949|0.41949	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.642	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		4	171	0	0	0	1	0	4	171				
OR10G7	390265	broad.mit.edu	37	11	123909643	123909643	+	Silent	SNP	G	G	A	rs370886031		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123909643G>A	ENST00000330487.5	-	1	74	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D22D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGGGCGTCCAGCCCTG	0.562																																						ENST00000330487.5																			1	Substitution - coding silent(1)	p.D22D(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 7							96.0	92.0	93.0					11																	123909643		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909643G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.66C>T	11.37:g.123909643G>A							p.D22D	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	74	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.66C>T	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	129	0	0	0	1	0	12	129				
DOCK3	1795	broad.mit.edu	37	3	51102013	51102013	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51102013G>A	ENST00000266037.9	+	6	473	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	150					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L150L(2)|p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGTGCGCCTGGACTGGGGTA	0.463																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.L150L(2)|p.L139L(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(448-450)ctG>ctA		dedicator of cytokinesis 3							82.0	85.0	84.0					3																	51102013		1954	4164	6118	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51102013G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.450G>A	3.37:g.51102013G>A							p.L150L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	473	+			150					O15017	Silent	SNP	ENST00000266037.9	37	c.450G>A	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		26	123	0	0	0	1	0	26	123				
NAP1L1	4673	broad.mit.edu	37	12	76446996	76446996	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:76446996G>A	ENST00000261182.8	-	10	1391	c.905C>T	c.(904-906)gCc>gTc	p.A302V	NAP1L1_ENST00000547773.1_Missense_Mutation_p.A239V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A261V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A302V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A302V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A302V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A234V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A260V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A313V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	302					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A302V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCAGGAGGGGCAAAAAAGTT	0.328																																						ENST00000261182.8																			1	Substitution - Missense(1)	p.A302V(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(904-906)gCc>gTc		nucleosome assembly protein 1-like 1							97.0	97.0	97.0					12																	76446996		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76446996G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.905C>T	12.37:g.76446996G>A	ENSP00000261182:p.Ala302Val					NAP1L1_ENST00000535020.2_Missense_Mutation_p.A302V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A234V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A261V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A313V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A302V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A239V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A302V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A260V	p.A302V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			10	1391	-		Colorectal(145;0.09)	302					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.905C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319754	0.60524	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.92	4.98	0.66077	.	0.348482	0.31963	N	0.006784	T	0.27697	0.0681	L	0.42686	1.345	0.27306	N	0.957443	B;B;B;B;B;B;B	0.28933	0.228;0.022;0.142;0.108;0.026;0.021;0.011	B;B;B;B;B;B;B	0.35813	0.211;0.079;0.211;0.102;0.051;0.038;0.063	T	0.24657	-1.0154	10	0.72032	D	0.01	.	13.9941	0.64386	0.0:0.314:0.686:0.0	.	302;260;313;302;234;239;302	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	V	302;296;302;234;239;119;260;302;302;119;313;261	ENSP00000261182:A302V;ENSP00000450236:A296V;ENSP00000376947:A302V;ENSP00000409795:A234V;ENSP00000448167:A239V;ENSP00000437507:A119V;ENSP00000444759:A260V;ENSP00000445008:A302V;ENSP00000447793:A302V;ENSP00000448007:A119V;ENSP00000447196:A313V;ENSP00000449649:A261V	ENSP00000261182:A302V	A	-	2	0	NAP1L1	74733263	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.676000	0.54612	2.828000	0.97474	0.650000	0.86243	GCC		0.328	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		5	197	0	0	0	1	0	5	197				
CUL3	8452	broad.mit.edu	37	2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:225379456T>C	ENST00000264414.4	-	4	750	c.412A>G	c.(412-414)Aac>Gac	p.N138D	CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	138					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.N138D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGTAGACGTTCTCCACATTA	0.338																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.N138D(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(412-414)Aac>Gac		cullin 3							135.0	114.0	121.0					2																	225379456		2202	4300	6502	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225379456T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.412A>G	2.37:g.225379456T>C	ENSP00000264414:p.Asn138Asp					CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000432260.2_5'UTR	p.N138D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	750	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	138					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.412A>G	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.651387|4.651387	0.88056|0.88056	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T|T;T;T;T	0.76316|0.28069	-1.01|1.63;1.63;1.63;1.63	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28267|0.28267	0.0698|0.0698	N|N	0.25286|0.25286	0.73|0.73	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.47762	.|0.9;0.863;0.863	.|B;P;P	.|0.46685	.|0.39;0.524;0.524	T|T	0.02333|0.02333	-1.1175|-1.1175	7|10	0.30854|0.22706	T|T	0.27|0.39	.|.	16.6245|16.6245	0.84952|0.84952	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|72;116;138	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	G|D	158|138;72;114;114	ENSP00000400935:E158G|ENSP00000264414:N138D;ENSP00000343601:N72D;ENSP00000387200:N114D;ENSP00000386525:N114D	ENSP00000400935:E158G|ENSP00000264414:N138D	E|N	-|-	2|1	0|0	CUL3|CUL3	225087700|225087700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.040000|8.040000	0.89188|0.89188	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.338	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			27	79	0	0	0	1	0	27	79				
COL6A5	256076	broad.mit.edu	37	3	130189738	130189738	+	Missense_Mutation	SNP	G	G	A	rs200982668		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:130189738G>A	ENST00000432398.2	+	39	7995	c.7501G>A	c.(7501-7503)Gaa>Aaa	p.E2501K	COL6A5_ENST00000265379.6_Missense_Mutation_p.E2501K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2501	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E2501K(2)|p.E540K(2)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATCCCACCGAAGATATGAA	0.428																																						ENST00000265379.6																			4	Substitution - Missense(4)	p.E2501K(2)|p.E540K(2)	prostate(2)|pancreas(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7501-7503)Gaa>Aaa		collagen, type VI, alpha 5		G	LYS/GLU	3,3781		0,3,1889	82.0	80.0	81.0		7501	-6.1	0.0	3		81	0,8248		0,0,4124	yes	missense	COL6A5	NM_153264.5	56	0,3,6013	AA,AG,GG		0.0,0.0793,0.0249	benign	2501/2527	130189738	3,12029	1892	4124	6016	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130189738G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7501G>A	3.37:g.130189738G>A	ENSP00000390895:p.Glu2501Lys					COL6A5_ENST00000432398.2_Missense_Mutation_p.E2501K	p.E2501K			A8TX70	CO6A5_HUMAN			39	7995	+			2501			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7501G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.622|3.622	-0.077284|-0.077284	0.07184|0.07184	7.93E-4|7.93E-4	0.0|0.0	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88741|.	-2.32;-2.42;-0.87;-0.71|.	5.35|5.35	-6.05|-6.05	0.02172|0.02172	.|.	1.426660|.	0.04442|.	N|.	0.371131|.	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.35475|0.35475	-0.9787|-0.9787	10|5	0.06494|.	T|.	0.89|.	.|.	8.3196|8.3196	0.32121|0.32121	0.4391:0.1056:0.4553:0.0|0.4391:0.1056:0.4553:0.0	.|.	2501;2501|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|Q	2501;2501;444;336|752	ENSP00000390895:E2501K;ENSP00000265379:E2501K;ENSP00000362250:E444K;ENSP00000424968:E336K|.	ENSP00000265379:E2501K|.	E|R	+|+	1|2	0|0	COL6A5|COL6A5	131672428|131672428	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.133000|0.133000	0.20885|0.20885	-0.373000|-0.373000	0.07494|0.07494	-1.229000|-1.229000	0.02564|0.02564	-2.209000|-2.209000	0.00301|0.00301	GAA|CGA		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	39	0	0	0	1	0	10	39				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	15	0	0	0	1	0	3	15				
KMT2A	4297	broad.mit.edu	37	11	118343971	118343971	+	Silent	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:118343971T>C	ENST00000389506.5	+	3	2097	c.2097T>C	c.(2095-2097)gcT>gcC	p.A699A	KMT2A_ENST00000354520.4_Silent_p.A699A|KMT2A_ENST00000534358.1_Silent_p.A699A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	699					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.A699A(2)									TTCTGAGAGCTCCAAGATTTA	0.453																																						ENST00000534358.1																			2	Substitution - coding silent(2)	p.A699A(2)	prostate(2)								c.(2095-2097)gcT>gcC		lysine (K)-specific methyltransferase 2A							55.0	55.0	55.0					11																	118343971		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118343971T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2097T>C	11.37:g.118343971T>C						KMT2A_ENST00000389506.5_Silent_p.A699A|KMT2A_ENST00000354520.4_Silent_p.A699A	p.A699A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2120	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.2097T>C	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		33	124	0	0	0	1	0	33	124				
CDKL3	51265	broad.mit.edu	37	5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:133634385C>T	ENST00000265334.4	-	13	1854	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	579					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.C579Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCCCTCGCAATGGCCATC	0.348																																						ENST00000265334.4																			1	Substitution - Missense(1)	p.C579Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(1735-1737)tGc>tAc		cyclin-dependent kinase-like 3							115.0	111.0	112.0					5																	133634385		1568	3582	5150	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133634385C>T	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1736G>A	5.37:g.133634385C>T	ENSP00000265334:p.Cys579Tyr					CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron	p.C579Y	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1854	-			579					D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.1736G>A	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052195	0.36181	.	.	ENSG00000006837	ENST00000265334	T	0.78595	-1.19	5.65	1.76	0.24704	.	0.318283	0.27856	N	0.017573	T	0.60209	0.2251	L	0.27053	0.805	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.51545	-0.8692	10	0.59425	D	0.04	-33.4788	4.1156	0.10079	0.3485:0.4775:0.0:0.1739	.	579	Q8IVW4	CDKL3_HUMAN	Y	579	ENSP00000265334:C579Y	ENSP00000265334:C579Y	C	-	2	0	CDKL3	133662284	1.000000	0.71417	0.739000	0.30968	0.888000	0.51559	1.306000	0.33505	0.283000	0.22279	-0.362000	0.07510	TGC		0.348	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		37	125	0	0	0	1	0	37	125				
BCL11A	53335	broad.mit.edu	37	2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:60773250C>T	ENST00000335712.6	-	2	468	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	81	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.V81M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTATCCACAGCTTTTTCT	0.483			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - Missense(3)	p.V81M(3)	prostate(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(241-243)Gtg>Atg		B-cell CLL/lymphoma 11A (zinc finger protein)							159.0	154.0	155.0					2																	60773250		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60773250C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.241G>A	2.37:g.60773250C>T	ENSP00000338774:p.Val81Met					BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M	p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		2	468	-			81			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.241G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962189	0.34659	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08370	3.1;3.39;3.4;3.32	5.78	5.78	0.91487	.	0.192650	0.34700	N	0.003758	T	0.10637	0.0260	L	0.28274	0.84	0.80722	D	1	P;B;B;B;P;B	0.48503	0.712;0.435;0.189;0.005;0.911;0.005	B;B;B;B;P;B	0.45506	0.198;0.3;0.16;0.007;0.483;0.019	T	0.12426	-1.0548	10	0.32370	T	0.25	-3.0404	20.0165	0.97478	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	M	81;81;117;81;81;81	ENSP00000349300:V81M;ENSP00000438303:V81M;ENSP00000338774:V81M;ENSP00000351307:V81M	ENSP00000338774:V81M	V	-	1	0	BCL11A	60626754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.434000	0.52841	2.736000	0.93811	0.557000	0.71058	GTG		0.483	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		5	133	0	0	0	1	0	5	133				
ZSCAN32	54925	broad.mit.edu	37	16	3440104	3440104	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr16:3440104T>A	ENST00000396852.4	-	5	964	c.657A>T	c.(655-657)gtA>gtT	p.V219V	ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	219	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V7V(1)									GACAGAGGGATACAGCTCTGT	0.582																																						ENST00000396852.4																			1	Substitution - coding silent(1)	p.V7V(1)	prostate(1)								c.(655-657)gtA>gtT		zinc finger and SCAN domain containing 32							78.0	56.0	63.0					16																	3440104		2197	4300	6497	SO:0001819	synonymous_variant	54925							g.chr16:3440104T>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.657A>T	16.37:g.3440104T>A						ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Silent_p.V7V|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000304926.3_Silent_p.V7V	p.V219V							5	964	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37	c.657A>T																																																																																					0.582	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		13	39	0	0	0	1	0	13	39				
MT-CO1	4512	broad.mit.edu	37	M	7026	7026	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrM:7026G>A	ENST00000361624.2	+	1	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	375					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ACTACGTTGTAGCTCACTTCC	0.448																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1123-1125)Gcc>Acc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:7026G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1123G>A	M.37:g.7026G>A	ENSP00000354499:p.Ala375Thr						p.375_375insT							1	1123	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1123G>A																																																																																					0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	2	0	0	0	1	0	4	2				
FAM189B	10712	broad.mit.edu	37	1	155218031	155218031	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:155218031G>A	ENST00000361361.2	-	11	2152	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	FAM189B_ENST00000368368.3_Missense_Mutation_p.A530V|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.A452V	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	548						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.A548V(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTGACCGGGCACGTAGCAA	0.627																																						ENST00000361361.2																			1	Substitution - Missense(1)	p.A548V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1642-1644)gCc>gTc		family with sequence similarity 189, member B							20.0	26.0	24.0					1																	155218031		2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155218031G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1643C>T	1.37:g.155218031G>A	ENSP00000354958:p.Ala548Val					FAM189B_ENST00000368368.3_Missense_Mutation_p.A530V|FAM189B_ENST00000350210.2_Missense_Mutation_p.A452V	p.A548V	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN			11	2152	-			548					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1643C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343660	0.61073	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.4	4.4	0.53042	.	0.509560	0.19341	N	0.116643	T	0.03136	0.0092	N	0.08118	0	0.28881	N	0.894393	D;D;D;D	0.76494	0.999;0.993;0.996;0.993	D;D;D;D	0.80764	0.994;0.956;0.98;0.956	T	0.45160	-0.9280	10	0.66056	D	0.02	.	12.7254	0.57168	0.0:0.0:1.0:0.0	.	313;530;452;548	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	V	452;530;548;231;270	ENSP00000307128:A452V;ENSP00000357352:A530V;ENSP00000354958:A548V;ENSP00000427011:A270V	ENSP00000323164:A231V	A	-	2	0	FAM189B	153484655	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	4.242000	0.58714	2.453000	0.82957	0.549000	0.68633	GCC		0.627	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		3	48	0	0	0	1	0	3	48				
TSKS	60385	broad.mit.edu	37	19	50248602	50248602	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:50248602C>T	ENST00000246801.3	-	7	1126	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	TSKS_ENST00000358830.3_Silent_p.V148V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	348					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.V348V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCTTCCTGCACCGCCCCCT	0.706																																						ENST00000246801.3																			1	Substitution - coding silent(1)	p.V348V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1042-1044)gtG>gtA		testis-specific serine kinase substrate							11.0	12.0	12.0					19																	50248602		2195	4273	6468	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50248602C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1044G>A	19.37:g.50248602C>T						TSKS_ENST00000358830.3_Silent_p.V148V	p.V348V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	7	1126	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	348					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1044G>A	CCDS12780.1																																																																																				0.706	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	8	0	0	0	1	0	3	8				
ZNF521	25925	broad.mit.edu	37	18	22804338	22804338	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr18:22804338G>A	ENST00000361524.3	-	4	3692	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S	ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S|ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1182					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGATTCTGGGCATTGGTGAT	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3544-3546)Ccc>Tcc		zinc finger protein 521							138.0	133.0	135.0					18																	22804338		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804338G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3544C>T	18.37:g.22804338G>A	ENSP00000354794:p.Pro1182Ser					ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S	p.P1182S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3692	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1182					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3544C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545980	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.22336	3.09;1.96	5.98	5.98	0.97165	.	0.055326	0.85682	D	0.000000	T	0.25044	0.0608	L	0.32530	0.975	0.48632	D	0.999684	P	0.45827	0.867	P	0.45639	0.488	T	0.00282	-1.1850	10	0.32370	T	0.25	-32.5297	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1182	Q96K83	ZN521_HUMAN	S	1182;1216;1182	ENSP00000354794:P1182S;ENSP00000382352:P1182S	ENSP00000354794:P1182S	P	-	1	0	ZNF521	21058336	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.171000	0.71926	2.835000	0.97688	0.650000	0.86243	CCC		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	191	0	0	0	1	0	4	191				
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101984G>A	ENST00000266037.9	+	6	444	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E130K(1)|p.E141K(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453																																						ENST00000266037.9																			2	Substitution - Missense(2)	p.E130K(1)|p.E141K(1)	lung(2)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(421-423)Gag>Aag		dedicator of cytokinesis 3							93.0	96.0	95.0					3																	51101984		1982	4180	6162	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51101984G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.421G>A	3.37:g.51101984G>A	ENSP00000266037:p.Glu141Lys						p.E141K	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	444	+			141					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.421G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091471	0.94149	.	.	ENSG00000088538	ENST00000266037	T	0.60040	0.22	5.88	5.88	0.94601	.	0.045251	0.85682	D	0.000000	T	0.54175	0.1842	L	0.45581	1.43	0.80722	D	1	P	0.41420	0.749	B	0.38500	0.275	T	0.49679	-0.8914	10	0.27082	T	0.32	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	141	Q8IZD9	DOCK3_HUMAN	K	141	ENSP00000266037:E141K	ENSP00000266037:E141K	E	+	1	0	DOCK3	51077024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.788000	0.95919	0.650000	0.86243	GAG		0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		28	120	0	0	0	1	0	28	120				
SNX12	29934	broad.mit.edu	37	X	70280884	70280884	+	Silent	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:70280884C>A	ENST00000374274.3	-	4	587	c.471G>T	c.(469-471)ccG>ccT	p.P157P	SNX12_ENST00000276105.3_Silent_p.P153P|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	157					intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.P157P(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCACCTTCCCCGGGACGTAGT	0.512																																						ENST00000374274.3																			1	Substitution - coding silent(1)	p.P157P(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(469-471)ccG>ccT		sorting nexin 12							87.0	65.0	72.0					X																	70280884		2203	4300	6503	SO:0001819	synonymous_variant	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70280884C>A	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.471G>T	X.37:g.70280884C>A						SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Silent_p.P153P	p.P157P	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN			4	587	-	Renal(35;0.156)		157					F8W8K5|Q8WUG9	Silent	SNP	ENST00000374274.3	37	c.471G>T	CCDS14405.1																																																																																				0.512	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		3	22	1	0	1	1	1	3	22				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	122	0	0	0	1	0	7	122				
LDLR	3949	broad.mit.edu	37	19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T	rs373371572		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:11227612C>T	ENST00000558518.1	+	12	1970	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	595					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R595W(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CGGGGGCAACCGGAAGACCAT	0.542																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			2	Substitution - Missense(1)|Unknown(1)	p.R595W(1)|p.?(1)	prostate(1)|lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM014579	LDLR	M		c.(1783-1785)Cgg>Tgg		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	230.0	205.0	214.0		1783,1783,1660,1279,1420,1402	3.2	1.0	19		214	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	595/861,595/859,554/820,427/693,474/740,468/683	11227612	1,13005	2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11227612C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1783C>T	19.37:g.11227612C>T	ENSP00000454071:p.Arg595Trp					LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W	p.R595W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	12	1970	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	595					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1783C>T	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543341	0.45280	0.0	1.16E-4	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97665	-4.48;-4.48;-4.48	5.48	3.24	0.37175	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000027	D	0.98814	0.9600	H	0.96777	3.88	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0;1.0	D	0.98914	1.0781	10	0.87932	D	0	.	11.1964	0.48715	0.5654:0.4346:0.0:0.0	.	427;468;474;554;607;595	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	W	595;468;554;427	ENSP00000437639:R468W;ENSP00000440520:R554W;ENSP00000397829:R427W	ENSP00000252444:R595W	R	+	1	2	LDLR	11088612	0.287000	0.24315	0.989000	0.46669	0.082000	0.17680	0.818000	0.27295	1.283000	0.44513	0.462000	0.41574	CGG		0.542	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			73	342	0	0	0	1	0	73	342				
DOCK3	1795	broad.mit.edu	37	3	51101986	51101986	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101986G>A	ENST00000266037.9	+	6	446	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E141E(2)|p.E130E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGCGGGAGGTTAAGCGGC	0.453																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.E141E(2)|p.E130E(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(421-423)gaG>gaA		dedicator of cytokinesis 3							93.0	96.0	95.0					3																	51101986		1982	4181	6163	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51101986G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.423G>A	3.37:g.51101986G>A							p.E141E	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	446	+			141					O15017	Silent	SNP	ENST00000266037.9	37	c.423G>A	CCDS46835.1																																																																																				0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		27	122	0	0	0	1	0	27	122				
RNPEPL1	57140	broad.mit.edu	37	2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	rs193086300		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:241516387C>T	ENST00000270357.4	+	10	1764	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	391					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R391W(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17545	0.0		0.001	False		,,,				2504	0.0					ENST00000270357.3																			1	Substitution - Missense(1)	p.R391W(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1171-1173)Cgg>Tgg		arginyl aminopeptidase (aminopeptidase B)-like 1							72.0	68.0	70.0					2																	241516387		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516387C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1171C>T	2.37:g.241516387C>T	ENSP00000270357:p.Arg391Trp					RNPEPL1_ENST00000464550.1_3'UTR	p.R391W	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	10	1764	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	391					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.1171C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.4	4.734145	0.89482	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.46063	0.88;0.88	4.73	4.73	0.59995	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66052	-0.6019	10	0.52906	T	0.07	-11.76	15.1567	0.72749	0.0:1.0:0.0:0.0	.	297;391	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	W	391;144	ENSP00000270357:R391W;ENSP00000403319:R144W	ENSP00000270357:R391W	R	+	1	2	RNPEPL1	241165060	0.998000	0.40836	0.985000	0.45067	0.838000	0.47535	3.322000	0.52007	2.167000	0.68274	0.591000	0.81541	CGG		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		4	111	0	0	0	1	0	4	111				
KDM4C	23081	broad.mit.edu	37	9	7169914	7169914	+	Intron	SNP	G	G	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:7169914G>C	ENST00000381309.3	+	21	3559				KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.L1006F|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.L1006F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GATGCCACTTGGGGACCTGCC	0.448																																						ENST00000381306.3																			1	Substitution - Missense(1)	p.L1006F(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3016-3018)ttG>ttC		lysine (K)-specific demethylase 4C							57.0	49.0	52.0					9																	7169914		2203	4300	6503	SO:0001627	intron_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7169914G>C	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2994+24G>C	9.37:g.7169914G>C						KDM4C_ENST00000381309.3_Intron|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron	p.L1006F	NM_001146694.1	NP_001140166.1	Q9H3R0	KDM4C_HUMAN			21	3583	+			0					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.3018G>C	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384088	0.25031	.	.	ENSG00000107077	ENST00000381306	T	0.17528	2.27	4.11	-0.0991	0.13625	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.09310	N	0.999996	B	0.32467	0.372	B	0.32533	0.147	T	0.34800	-0.9814	7	.	.	.	.	6.5193	0.22266	0.4789:0.0:0.5211:0.0	.	1006	Q9H3R0-2	.	F	1006	ENSP00000370707:L1006F	.	L	+	3	2	KDM4C	7159914	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-3.337000	0.00507	-0.122000	0.11766	0.467000	0.42956	TTG		0.448	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		12	53	0	0	0	1	0	12	53				
TRPM6	140803	broad.mit.edu	37	9	77427337	77427337	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:77427337C>T	ENST00000360774.1	-	12	1558	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	TRPM6_ENST00000376871.3_Missense_Mutation_p.E441K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E441K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E441K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E436K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E436K|TRPM6_ENST00000451710.3_Missense_Mutation_p.E441K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	441					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E441K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGCTTGTTCCAGGGCATCA	0.363																																						ENST00000451710.3																			1	Substitution - Missense(1)	p.E441K(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1321-1323)Gaa>Aaa		transient receptor potential cation channel, subfamily M, member 6							81.0	75.0	77.0					9																	77427337		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77427337C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1321G>A	9.37:g.77427337C>T	ENSP00000354006:p.Glu441Lys					TRPM6_ENST00000360774.1_Missense_Mutation_p.E441K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E436K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E441K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E441K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E441K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E436K	p.E441K			Q9BX84	TRPM6_HUMAN			12	1558	-			441					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1321G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990262	0.93106	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.997;0.999;0.99	T	0.81261	-0.1013	10	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	441;441;441;436	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	K	441;441;441;441;436;436;441;104;104	ENSP00000354006:E441K;ENSP00000407341:E441K;ENSP00000366068:E441K;ENSP00000366067:E441K;ENSP00000396672:E436K;ENSP00000354962:E436K;ENSP00000366060:E441K	ENSP00000309693:E104K	E	-	1	0	TRPM6	76617157	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA		0.363	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		51	91	0	0	0	1	0	51	91				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	57	0	0	0	1	0	4	57				
PLCXD2	257068	broad.mit.edu	37	3	111426940	111426940	+	Missense_Mutation	SNP	C	C	T	rs199703580		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:111426940C>T	ENST00000477665.1	+	2	655	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R111C	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	111	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R111C(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGCTGGGATCCGCTACTTTGA	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18232	0.0		0.0	False		,,,				2504	0.0					ENST00000393934.3																			1	Substitution - Missense(1)	p.R111C(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(331-333)Cgc>Tgc		phosphatidylinositol-specific phospholipase C, X domain containing 2							107.0	103.0	105.0					3																	111426940		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426940C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.331C>T	3.37:g.111426940C>T	ENSP00000420686:p.Arg111Cys					PLCXD2_ENST00000477665.1_Missense_Mutation_p.R111C	p.R111C	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	901	+			111			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.331C>T	CCDS54619.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.1	4.796940	0.90453	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	D;D	0.81499	-1.5;-1.5	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	D	0.93259	0.7852	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.94689	0.7872	9	0.87932	D	0	-18.8101	17.8364	0.88699	0.0:1.0:0.0:0.0	.	21;111;111	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	C	111;111;21	ENSP00000377511:R111C;ENSP00000420686:R111C	ENSP00000377511:R111C	R	+	1	0	PLCXD2	112909630	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.445000	0.80570	2.884000	0.98904	0.655000	0.94253	CGC		0.512	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		31	147	0	0	0	1	0	31	147				
SPIC	121599	broad.mit.edu	37	12	101876611	101876611	+	Silent	SNP	A	A	G	rs554489172		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:101876611A>G	ENST00000551346.1	+	5	411	c.252A>G	c.(250-252)caA>caG	p.Q84Q	SPIC_ENST00000299272.5_Silent_p.Q84Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	84					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q84Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATATTCATCAATCTCTGCAGA	0.403													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18572	0.0		0.0	False		,,,				2504	0.0					ENST00000551346.1																			1	Substitution - coding silent(1)	p.Q84Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(250-252)caA>caG		Spi-C transcription factor (Spi-1/PU.1 related)							139.0	150.0	146.0					12																	101876611		2203	4298	6501	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876611A>G	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.252A>G	12.37:g.101876611A>G						SPIC_ENST00000299272.5_Silent_p.Q84Q	p.Q84Q			Q8N5J4	SPIC_HUMAN			5	411	+			84						Silent	SNP	ENST00000551346.1	37	c.252A>G	CCDS9082.1																																																																																				0.403	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		131	332	0	0	0	1	0	131	332				
WDR38	401551	broad.mit.edu	37	9	127618187	127618187	+	Missense_Mutation	SNP	C	C	A	rs200022041		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:127618187C>A	ENST00000373574.1	+	4	411	c.355C>A	c.(355-357)Cag>Aag	p.Q119K		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	119					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q119K(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACTCGAGACAGCTGGCATC	0.622											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373574.1																			1	Substitution - Missense(1)	p.Q119K(1)	prostate(1)	breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(355-357)Cag>Aag		WD repeat domain 38							91.0	101.0	98.0					9																	127618187		2134	4253	6387	SO:0001583	missense	401551							g.chr9:127618187C>A		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.355C>A	9.37:g.127618187C>A	ENSP00000362677:p.Gln119Lys		OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1558		p.Q119K	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			4	411	+			119					A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.355C>A	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177693	0.21787	.	.	ENSG00000136918	ENST00000373574	T	0.59638	0.25	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.550372	0.17260	N	0.180821	T	0.29061	0.0722	N	0.02842	-0.48	0.23113	N	0.998279	P;P;P;P	0.35033	0.481;0.481;0.481;0.481	B;B;B;B	0.33042	0.157;0.157;0.157;0.157	T	0.07966	-1.0745	10	0.29301	T	0.29	.	8.1121	0.30920	0.0:0.8916:0.0:0.1084	.	119;119;108;119	B9EK65;B7ZW23;B7ZW24;Q5JTN6	.;.;.;WDR38_HUMAN	K	119	ENSP00000362677:Q119K	ENSP00000362677:Q119K	Q	+	1	0	WDR38	126658008	0.814000	0.29104	0.872000	0.34217	0.603000	0.37013	1.566000	0.36396	2.255000	0.74692	0.462000	0.41574	CAG		0.622	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		4	139	1	0	0.00024832	1	0.000256462	4	139				
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						ENST00000528896.2																			1	Substitution - coding silent(1)	p.P999P(1)	prostate(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2995-2997)ccT>ccC		KIAA0100							110.0	106.0	107.0					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G						RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P	p.P999P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	3071	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		4	223	0	0	0	1	0	4	223				
CACNA1E	777	broad.mit.edu	37	1	181725167	181725167	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:181725167C>T	ENST00000367573.2	+	29	4065	c.4065C>T	c.(4063-4065)taC>taT	p.Y1355Y	CACNA1E_ENST00000357570.5_Silent_p.Y1306Y|CACNA1E_ENST00000358338.5_Silent_p.Y1287Y|CACNA1E_ENST00000526775.1_Silent_p.Y1336Y|CACNA1E_ENST00000367567.4_Silent_p.Y962Y|CACNA1E_ENST00000360108.3_Silent_p.Y1336Y|CACNA1E_ENST00000367570.1_Silent_p.Y1355Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1355					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.Y1355Y(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTCCACTACGACAACATTA	0.493																																						ENST00000526775.1																			1	Substitution - coding silent(1)	p.Y1355Y(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4006-4008)taC>taT		calcium channel, voltage-dependent, R type, alpha 1E subunit							87.0	88.0	87.0					1																	181725167		2023	4188	6211	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181725167C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4065C>T	1.37:g.181725167C>T						CACNA1E_ENST00000357570.5_Silent_p.Y1306Y|CACNA1E_ENST00000358338.5_Silent_p.Y1287Y|CACNA1E_ENST00000367573.2_Silent_p.Y1355Y|CACNA1E_ENST00000367570.1_Silent_p.Y1355Y|CACNA1E_ENST00000360108.3_Silent_p.Y1336Y|CACNA1E_ENST00000367567.4_Silent_p.Y962Y	p.Y1336Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			28	4173	+			1355					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4008C>T	CCDS55664.1																																																																																				0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		18	56	0	0	0	1	0	18	56				
ZAN	7455	broad.mit.edu	37	7	100345786	100345786	+	RNA	SNP	G	G	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr7:100345786G>T	ENST00000348028.3	+	0	1215				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K350N(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTTTGGAAAGACCCCAGAGC	0.597																																						ENST00000542585.1																			3	Substitution - Missense(3)	p.K350N(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							66.0	68.0	67.0					7																	100345786		1972	4164	6136			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345786G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345786G>T						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1198	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	16.81	3.226473	0.58668	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02216	4.39;4.39;4.39	4.72	-2.72	0.05968	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.087150	0.02417	N	0.082171	T	0.01627	0.0052	N	0.16307	0.4	0.09310	N	0.999999	B;B	0.18166	0.021;0.026	B;B	0.13407	0.005;0.009	T	0.45425	-0.9262	10	0.41790	T	0.15	.	1.1946	0.01872	0.1848:0.1301:0.2656:0.4195	.	350;350	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	350	ENSP00000445943:K350N;ENSP00000445091:K350N;ENSP00000444427:K350N	ENSP00000423579:K350N	K	+	3	2	ZAN	100183722	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	0.185000	0.16958	-0.686000	0.05170	0.555000	0.69702	AAG		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		12	59	1	0	0.000219431	1	0.000234308	12	59				
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:113105824C>T	ENST00000533760.1	+	13	1978	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	NCAM1_ENST00000316851.7_Missense_Mutation_p.A578V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	588	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.A587V(2)|p.A578V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587																																						ENST00000316851.7																			4	Substitution - Missense(4)	p.A587V(2)|p.A578V(2)	prostate(4)	breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1732-1734)gCg>gTg		neural cell adhesion molecule 1							27.0	31.0	29.0					11																	113105824		2012	4166	6178	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105824C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1379C>T	11.37:g.113105824C>T	ENSP00000473281:p.Ala460Val					NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V|NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000397957.4_3'UTR	p.A578V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1733	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	588			Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1733C>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418407	0.83559	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.69806	-0.43;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.83922	0.5359	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.84963	0.0878	9	0.87932	D	0	-35.8497	20.1336	0.98010	0.0:1.0:0.0:0.0	.	588;578;588;578	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	V	460;587;578;22	ENSP00000384055:A587V;ENSP00000318472:A578V	ENSP00000318472:A578V	A	+	2	0	NCAM1	112611034	1.000000	0.71417	0.985000	0.45067	0.079000	0.17450	7.629000	0.83207	2.767000	0.95098	0.591000	0.81541	GCG		0.587	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		9	15	0	0	0	1	0	9	15				
TPTE2P6	374491	broad.mit.edu	37	13	25169937	25169937	+	RNA	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr13:25169937A>C	ENST00000453498.1	+	0	1184				TPTE2P6_ENST00000440905.1_RNA																							AATCTTCCTAAATACTATGAC	0.264																																						ENST00000453498.1																			0																																																			0							g.chr13:25169937A>C																													13.37:g.25169937A>C														0	1184	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.264	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	18	0	0	0	1	0	3	18				
PSD2	84249	broad.mit.edu	37	5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C	rs549790303		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:139189047T>C	ENST00000274710.3	+	2	227	c.22T>C	c.(22-24)Tct>Cct	p.S8P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S8P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		19004	0.0		0.0	False		,,,				2504	0.001					ENST00000274710.3																			1	Substitution - Missense(1)	p.S8P(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(22-24)Tct>Cct		pleckstrin and Sec7 domain containing 2							15.0	18.0	17.0					5																	139189047		2203	4299	6502	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189047T>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.22T>C	5.37:g.139189047T>C	ENSP00000274710:p.Ser8Pro						p.S8P	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	227	+			8					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.22T>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948480	0.34377	.	.	ENSG00000146005	ENST00000274710	T	0.32753	1.44	4.64	-5.4	0.02656	.	0.491882	0.17387	N	0.176080	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11397	-1.0589	10	0.31617	T	0.26	.	0.2362	0.00186	0.2603:0.1757:0.2745:0.2895	.	8	Q9BQI7	PSD2_HUMAN	P	8	ENSP00000274710:S8P	ENSP00000274710:S8P	S	+	1	0	PSD2	139169231	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.610000	0.05716	-0.429000	0.05907	TCT		0.627	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		3	21	0	0	0	1	0	3	21				
TNKS1BP1	85456	broad.mit.edu	37	11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A898V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2692-2694)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							187.0	185.0	186.0					11																	57077492		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077492G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2693C>T	11.37:g.57077492G>A	ENSP00000437271:p.Ala898Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V	p.A898V			Q9C0C2	TB182_HUMAN			5	3004	-		all_epithelial(135;0.21)	898			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2693C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678909	0.29783	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34667	1.35;1.35	4.47	-3.24	0.05094	.	1.939410	0.03105	N	0.161631	T	0.27697	0.0681	L	0.29908	0.895	0.09310	N	0.999999	B	0.32829	0.386	B	0.28011	0.085	T	0.42241	-0.9463	10	0.59425	D	0.04	0.0096	11.9863	0.53149	0.0805:0.6124:0.3072:0.0	.	898	Q9C0C2	TB182_HUMAN	V	898	ENSP00000350990:A898V;ENSP00000437271:A898V	ENSP00000350990:A898V	A	-	2	0	TNKS1BP1	56834068	0.000000	0.05858	0.003000	0.11579	0.360000	0.29518	0.096000	0.15147	-0.334000	0.08463	0.462000	0.41574	GCC		0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		6	414	0	0	0	1	0	6	414				
CROCC	9696	broad.mit.edu	37	1	17185383	17185384	+	lincRNA	INS	-	-	C	rs112074527		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646				MIR3675_ENST00000583661.1_RNA																							ACTAAATTTTTAGTGCAATAAT	0.465																																						ENST00000414128.1																			0																																																			0							g.chr1:17185383_17185384insC																													1.37:g.17185383_17185384insC														0	646	+									RNA	INS	ENST00000414128.1	37																																																																																						0.465	RP11-108M9.2-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000006253.1			2	4						2	4	---	---	---	---
LOC101927787	101927787	broad.mit.edu	37	1	234786389	234786390	+	lincRNA	DEL	CA	CA	-	rs150700408		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:234786389_234786390delCA	ENST00000417805.1	+	0	217																											cacacacacgcacacacacaca	0.426																																						ENST00000417805.1																			0																																																			0							g.chr1:234786389_234786390delCA																													1.37:g.234786399_234786400delCA														0	217	+									RNA	DEL	ENST00000417805.1	37																																																																																						0.426	RP4-781K5.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092701.1			2	4						2	4	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	297						7	297	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	lincRNA	INS	-	-	TT	rs145057012|rs10622810|rs60637656		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr4:105918246_105918247insTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317																																						ENST00000506386.1																			0																																																			0							g.chr4:105918246_105918247insTT																													4.37:g.105918255_105918256dupTT														0	71	+									RNA	INS	ENST00000506386.1	37																																																																																						0.317	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			3	3						3	3	---	---	---	---
LOC101927314	101927314	broad.mit.edu	37	6	98715362	98715377	+	lincRNA	DEL	TCCTTCCTTCCTTCCT	TCCTTCCTTCCTTCCT	-	rs71015446|rs59041540|rs564598409	byFrequency	TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr6:98715362_98715377delTCCTTCCTTCCTTCCT	ENST00000607823.1	+	0	352																											AAAGAttctctccttccttccttccttccttccttc	0.375														1266	0.252796	0.3275	0.2824	5008	,	,		15575	0.1488		0.2167	False		,,,				2504	0.2751					ENST00000607823.1																			0																																																			0							g.chr6:98715362_98715377delTCCTTCCTTCCTTCCT																													6.37:g.98715362_98715377delTCCTTCCTTCCTTCCT														0	352	+									RNA	DEL	ENST00000607823.1	37																																																																																						0.375	RP11-436D23.1-003	KNOWN	not_organism_supported|basic	lincRNA	lincRNA	OTTHUMT00000471318.1			2	4						2	4	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57920425	57920425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:57920425delG	ENST00000355673.3	+	7	1853	c.1497delG	c.(1495-1497)ctgfs	p.L499fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	499	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCGAAGGACTGGGGATGGGGG	0.647																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1495-1497)ctfs		methyl-CpG binding domain protein 6							42.0	52.0	48.0					12																	57920425		2203	4300	6503	SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920425delG	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1497delG	12.37:g.57920425delG	ENSP00000347896:p.Leu499fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			7	1853	+			499			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.1497delG	CCDS8944.1																																																																																				0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			51	217						51	217	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		7	547						7	547	---	---	---	---
CTC-400I9.3	0	broad.mit.edu	37	19	31443058	31443059	+	lincRNA	INS	-	-	CTCC	rs144141390		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:31443058_31443059insCTCC	ENST00000587702.1	+	0	92																											tccctccctctctccctccctc	0.465																																						ENST00000587702.1																			0																																																			0							g.chr19:31443058_31443059insCTCC																													19.37:g.31443063_31443066dupCTCC														0	92	+									RNA	INS	ENST00000587702.1	37																																																																																						0.465	CTC-400I9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460487.1			3	3						3	3	---	---	---	---
