#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HIVEP3	59269	broad.mit.edu	37	1	42047570	42047570	+	Missense_Mutation	SNP	G	G	A	rs141506685	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:42047570G>A	ENST00000372583.1	-	4	3784	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R967C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R967C|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R967C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	967	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R967C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTTTGGGGCGCATGTCAGAT	0.612																																						uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2899-2901)CGC>TGC		human immunodeficiency virus type I enhancer		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55.0	59.0	58.0		2899,2899	5.0	0.9	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	967/2406,967/2407	42047570	2,13004	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047570G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2899C>T	1.37:g.42047570G>A	ENSP00000361664:p.Arg967Cys					HIVEP3_uc001cha.3_Missense_Mutation_p.R967C|HIVEP3_uc001cgy.2_RNA	p.R967C	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4112	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	967			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2899C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964085	0.53507	4.54E-4	0.0	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.01	5.01	0.66863	.	0.129433	0.36002	N	0.002849	T	0.53916	0.1826	L	0.29908	0.895	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	P;P	0.57776	0.827;0.676	T	0.57740	-0.7759	10	0.66056	D	0.02	-14.5458	18.1057	0.89519	0.0:0.0:1.0:0.0	.	967;967	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	967	ENSP00000361665:R967C;ENSP00000361664:R967C;ENSP00000247584:R967C;ENSP00000410828:R967C	ENSP00000247584:R967C	R	-	1	0	HIVEP3	41820157	1.000000	0.71417	0.920000	0.36463	0.010000	0.07245	9.595000	0.98260	2.598000	0.87819	0.462000	0.41574	CGC		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	110	0	0	0	0	4	110				
IPO13	9670	broad.mit.edu	37	1	44433123	44433123	+	Missense_Mutation	SNP	G	G	A	rs372139269		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:44433123G>A	ENST00000372343.3	+	19	3412	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DPH2_ENST00000412950.2_5'Flank|IPO13_ENST00000372339.3_Missense_Mutation_p.R135H|DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000255108.3_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	917					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTCTGCCCGCCTCAGCCCT	0.617																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(2749-2751)CGC>CAC		importin 13			HIS/ARG	0,4406		0,0,2203	34.0	36.0	35.0		2750	3.8	1.0	1		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO13	NM_014652.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	917/964	44433123	1,13005	2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44433123G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2750G>A	1.37:g.44433123G>A	ENSP00000361418:p.Arg917His					IPO13_uc001cky.2_Missense_Mutation_p.R135H	p.R917H	NM_014652	NP_055467	O94829	IPO13_HUMAN			19	3545	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	917					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2750G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971138	0.53614	0.0	1.16E-4	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.72	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.43152	1.355	0.80722	D	1	P;B	0.36683	0.565;0.066	B;B	0.18263	0.021;0.01	T	0.35276	-0.9795	9	0.33940	T	0.23	-9.3926	14.5222	0.67859	0.0:0.148:0.852:0.0	.	135;917	Q5T4X2;O94829	.;IPO13_HUMAN	H	917;135	.	ENSP00000361414:R135H	R	+	2	0	IPO13	44205710	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.703000	0.84585	0.910000	0.36722	0.450000	0.29827	CGC		0.617	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		8	55	0	0	0	0	8	55				
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	T	rs142170860		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:152188024C>T	ENST00000368801.2	-	3	6156	c.6081G>A	c.(6079-6081)tcG>tcA	p.S2027S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		49156	0.0		0.0	False		,,,				2504	0.0					uc001ezt.1		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	skin(2)|ovary(1)	3						c.(6079-6081)TCG>TCA		hornerin		C		0,4316		0,0,2158	348.0	495.0	444.0		6081	-6.8	0.0	1	dbSNP_134	444	1,8323		0,1,4161	no	coding-synonymous	HRNR	NM_001009931.1		0,1,6319	TT,TC,CC		0.012,0.0,0.0079		2027/2851	152188024	1,12639	2158	4162	6320	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188024C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6081G>A	1.37:g.152188024C>T							p.S2027S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6157	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2027			22		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6081G>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		56	618	0	0	0	0	56	618				
SPTA1	6708	broad.mit.edu	37	1	158621162	158621162	+	Missense_Mutation	SNP	G	G	A	rs374770895	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:158621162G>A	ENST00000368147.4	-	24	3652	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1158					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTACCTGCCGGATTTGAGCT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		19604	0.0		0.0	False		,,,				2504	0.002					uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3472-3474)CGG>TGG		spectrin, alpha, erythrocytic 1		G	TRP/ARG	0,3754		0,0,1877	193.0	192.0	192.0		3472	4.7	0.0	1		192	1,8217		0,1,4108	no	missense	SPTA1	NM_003126.2	101	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1158/2420	158621162	1,11971	1877	4109	5986	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158621162G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3472C>T	1.37:g.158621162G>A	ENSP00000357129:p.Arg1158Trp						p.R1158W	NM_003126	NP_003117	P02549	SPTA1_HUMAN			24	3671	-	all_hematologic(112;0.0378)		1158			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3472C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560515	0.65538	0.0	1.22E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	4.66	4.66	0.58398	.	.	.	.	.	T	0.50377	0.1612	L	0.46157	1.445	0.32447	N	0.545961	D	0.69078	0.997	P	0.62382	0.901	T	0.52631	-0.8550	9	0.87932	D	0	.	15.4488	0.75257	0.0:0.0:1.0:0.0	.	1158	P02549	SPTA1_HUMAN	W	1158	ENSP00000357130:R1158W;ENSP00000357129:R1158W	ENSP00000357129:R1158W	R	-	1	2	SPTA1	156887786	0.615000	0.27026	0.038000	0.18304	0.400000	0.30750	4.048000	0.57390	2.572000	0.86782	0.655000	0.94253	CGG		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	194	0	0	0	0	21	194				
USH2A	7399	broad.mit.edu	37	1	215847770	215847770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:215847770G>A	ENST00000307340.3	-	63	13869	c.13483C>T	c.(13483-13485)Cgt>Tgt	p.R4495C	USH2A_ENST00000366943.2_Missense_Mutation_p.R4495C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4495	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCACGATAGCGTGTT	0.458										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13483-13485)CGT>TGT		usherin isoform B							144.0	141.0	142.0					1																	215847770		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847770G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13483C>T	1.37:g.215847770G>A	ENSP00000305941:p.Arg4495Cys	HNSCC(13;0.011)					p.R4495C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13870	-			4495			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13483C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115611	0.37339	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	4.22	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.188196	0.25698	U	0.028893	T	0.41282	0.1152	L	0.32530	0.975	0.33571	D	0.598559	B	0.32160	0.358	B	0.19148	0.024	T	0.59883	-0.7370	10	0.66056	D	0.02	.	16.9605	0.86271	0.0:0.0:1.0:0.0	.	4495	O75445	USH2A_HUMAN	C	4495	ENSP00000305941:R4495C;ENSP00000355910:R4495C	ENSP00000305941:R4495C	R	-	1	0	USH2A	213914393	1.000000	0.71417	0.146000	0.22360	0.234000	0.25298	7.583000	0.82559	2.055000	0.61198	0.467000	0.42956	CGT		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		28	165	0	0	0	0	28	165				
PLCE1	51196	broad.mit.edu	37	10	96014690	96014690	+	Silent	SNP	C	C	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr10:96014690C>A	ENST00000371380.3	+	10	3673	c.3438C>A	c.(3436-3438)tcC>tcA	p.S1146S	PLCE1_ENST00000371375.1_Silent_p.S838S|PLCE1_ENST00000371385.3_Silent_p.S838S|PLCE1_ENST00000260766.3_Silent_p.S1146S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1146					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCTCCCTTCCAGAAGAGCCC	0.532																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(3436-3438)TCC>TCA		phospholipase C, epsilon 1 isoform 1							177.0	175.0	176.0					10																	96014690		1900	4132	6032	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96014690C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3438C>A	10.37:g.96014690C>A						PLCE1_uc010qnx.1_Silent_p.S1146S|PLCE1_uc001kjm.2_Silent_p.S838S	p.S1146S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			11	4072	+		Colorectal(252;0.0458)	1146					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.3438C>A	CCDS41552.1																																																																																				0.532	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		21	200	1	0	2.71e-06	3.31e-06	21	200				
MUC5B	727897	broad.mit.edu	37	11	1262890	1262890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:1262890C>T	ENST00000529681.1	+	31	4838	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MUC5B_ENST00000447027.1_Missense_Mutation_p.R1597W|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1594	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTACAGGATCCGGGTCCTCTG	0.637																																						uc009ycr.1		NA																	0					0						c.(6859-6861)CGG>TGG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							23.0	30.0	28.0					11																	1262890		2128	4224	6352	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262890C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4780C>T	11.37:g.1262890C>T	ENSP00000436812:p.Arg1594Trp					MUC5B_uc001ltb.2_Missense_Mutation_p.R1597W	p.R2287W	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	6985	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1594			7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6859C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	14.52	2.560198	0.45590	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25912	1.77;1.77	4.05	1.88	0.25563	.	.	.	.	.	T	0.57799	0.2078	M	0.90922	3.16	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.52465	-0.8572	9	0.87932	D	0	.	12.9827	0.58572	0.4608:0.5392:0.0:0.0	.	2287;1597	A7Y9J9;E9PBJ0	.;.	W	1594;1597;1595;1664	ENSP00000436812:R1594W;ENSP00000415793:R1597W	ENSP00000343037:R1595W	R	+	1	2	MUC5B	1219466	0.000000	0.05858	0.005000	0.12908	0.418000	0.31294	-0.271000	0.08572	0.749000	0.32854	0.306000	0.20318	CGG		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	27	0	0	0	0	4	27				
ZNF215	7762	broad.mit.edu	37	11	6977595	6977595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:6977595C>T	ENST00000278319.5	+	7	1975	c.1387C>T	c.(1387-1389)Caa>Taa	p.Q463*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.Q463*|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	463					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAATTTCTATCAATGTGTTAA	0.398																																						uc001mey.2		NA																	0					0						c.(1387-1389)CAA>TAA		zinc finger protein 215							86.0	89.0	88.0					11																	6977595		2201	4296	6497	SO:0001587	stop_gained	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977595C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1387C>T	11.37:g.6977595C>T	ENSP00000278319:p.Gln463*					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.Q225*|ZNF215_uc001mez.1_Intron	p.Q463*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1975	+			463			C2H2-type 3.		Q96C84	Nonsense_Mutation	SNP	ENST00000278319.5	37	c.1387C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	c	27.1	4.798473	0.90538	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	.	.	.	4.75	0.626	0.17670	.	0.527872	0.15944	N	0.237066	.	.	.	.	.	.	0.37276	D	0.907607	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-5.9967	2.8404	0.05527	0.0863:0.2955:0.3158:0.3024	.	.	.	.	X	463	.	ENSP00000278319:Q463X	Q	+	1	0	ZNF215	6934171	0.000000	0.05858	0.958000	0.39756	0.159000	0.22180	-1.850000	0.01670	0.281000	0.22233	-0.204000	0.12730	CAA		0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			5	65	0	0	0	0	5	65				
FSHB	2488	broad.mit.edu	37	11	30255210	30255210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:30255210G>A	ENST00000417547.1	+	3	292	c.253G>A	c.(253-255)Gct>Act	p.A85T	FSHB_ENST00000254122.3_Missense_Mutation_p.A85T|FSHB_ENST00000533718.1_Missense_Mutation_p.A85T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	85					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GCCCGGCTGTGCTCACCATGC	0.527																																						uc001msl.2		NA																	0				ovary(3)	3						c.(253-255)GCT>ACT		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						112.0	93.0	100.0					11																	30255210		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30255210G>A		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.253G>A	11.37:g.30255210G>A	ENSP00000416606:p.Ala85Thr					FSHB_uc001msm.2_Missense_Mutation_p.A85T|FSHB_uc001msn.2_Missense_Mutation_p.A85T	p.A85T	NM_000510	NP_000501	P01225	FSHB_HUMAN			3	322	+			85					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.253G>A	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309932	0.81247	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.90844	-2.74;-2.74;-2.74	6.17	6.17	0.99709	Cystine knot (1);	0.119666	0.56097	D	0.000028	D	0.91523	0.7323	M	0.76002	2.32	0.48185	D	0.999601	B	0.11235	0.004	B	0.18263	0.021	D	0.86515	0.1812	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	85	P01225	FSHB_HUMAN	T	85	ENSP00000254122:A85T;ENSP00000416606:A85T;ENSP00000433424:A85T	ENSP00000254122:A85T	A	+	1	0	FSHB	30211786	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.123000	0.57917	2.941000	0.99782	0.655000	0.94253	GCT		0.527	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		6	63	0	0	0	0	6	63				
OR1S1	219959	broad.mit.edu	37	11	57982768	57982768	+	Missense_Mutation	SNP	C	C	A	rs201200340	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:57982768C>A	ENST00000309433.6	+	1	552	c.552C>A	c.(550-552)caC>caA	p.H184Q		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGTAACCACAACACTCTCC	0.438																																						uc010rkc.1		NA																	0				breast(1)	1						c.(550-552)CAC>CAA		olfactory receptor, family 1, subfamily S,							209.0	170.0	183.0					11																	57982768		2201	4290	6491	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982768C>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.552C>A	11.37:g.57982768C>A	ENSP00000311688:p.His184Gln						p.H184Q	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	552	+		Breast(21;0.0589)	184			Extracellular (Potential).		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.552C>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.479115	0.01035	.	.	ENSG00000172774	ENST00000309433	T	0.00063	8.78	3.45	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	1.510670	0.03785	N	0.261901	T	0.00109	0.0003	N	0.17838	0.53	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.23368	-1.0190	10	0.52906	T	0.07	.	5.4618	0.16622	0.0:0.4742:0.2659:0.2598	.	184	Q8NH92	OR1S1_HUMAN	Q	184	ENSP00000311688:H184Q	ENSP00000311688:H184Q	H	+	3	2	OR1S1	57739344	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.499000	0.00450	-0.524000	0.06400	-0.361000	0.07541	CAC		0.438	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		35	117	1	0	1.22e-17	1.53e-17	35	117				
MEN1	4221	broad.mit.edu	37	11	64572117	64572117	+	Nonsense_Mutation	SNP	G	G	A	rs386833403		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:64572117G>A	ENST00000337652.1	-	10	2040	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*	MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q513*|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q508*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q508*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q473*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q453*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q508*|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q513*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	513					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACTGCACCCTGGCCGGTGCCC	0.736			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NA	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	GRCh37	CM003682|CM067696	MEN1	M		c.(1537-1539)CAG>TAG		menin isoform 1							10.0	11.0	10.0					11																	64572117		2188	4258	6446	SO:0001587	stop_gained	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572117G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1537C>T	11.37:g.64572117G>A	ENSP00000337088:p.Gln513*					MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q473*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q508*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q508*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q513*	p.Q513*	NM_130800	NP_570712	O00255	MEN1_HUMAN			10	1610	-			513					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.1537C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460274	0.63401	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	.	.	.	4.07	4.07	0.47477	.	0.266314	0.30611	N	0.009250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-26.6823	12.5473	0.56208	0.0:0.0:1.0:0.0	.	.	.	.	X	453;473;508;508;508;513;513;513;513;513	.	ENSP00000308975:Q508X	Q	-	1	0	MEN1	64328693	0.257000	0.24022	0.110000	0.21437	0.128000	0.20619	2.310000	0.43708	2.222000	0.72286	0.400000	0.26472	CAG		0.736	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			3	32	0	0	0	0	3	32				
NCKAP5L	57701	broad.mit.edu	37	12	50191005	50191005	+	Missense_Mutation	SNP	C	C	A	rs78047311		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:50191005C>A	ENST00000335999.6	-	8	839	c.638G>T	c.(637-639)cGg>cTg	p.R213L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	209	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTGGAGGCCGCCAGGGGGT	0.667																																						uc009zlk.2		NA																	0				central_nervous_system(1)	1						c.(637-639)CGG>CTG		NCK-associated protein 5-like							20.0	24.0	22.0					12																	50191005		1886	4109	5995	SO:0001583	missense	57701							g.chr12:50191005C>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.638G>T	12.37:g.50191005C>A	ENSP00000337998:p.Arg213Leu					NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	p.R213L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	840	-			209			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.638G>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	c	12.09	1.832587	0.32421	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.50813	0.73	3.75	-3.69	0.04450	.	.	.	.	.	T	0.19765	0.0475	N	0.02539	-0.55	0.19945	N	0.999941	B	0.27594	0.182	B	0.33254	0.16	T	0.29731	-1.0002	9	0.27082	T	0.32	-0.0219	6.2174	0.20663	0.0:0.4546:0.1218:0.4236	.	209	E2QRB5	.	L	213;209	ENSP00000337998:R213L	ENSP00000337998:R213L	R	-	2	0	NCKAP5L	48477272	0.000000	0.05858	0.715000	0.30552	0.918000	0.54935	-1.213000	0.02991	-1.012000	0.03387	-0.355000	0.07637	CGG		0.667	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		5	55	1	0	1.24e-05	1.51e-05	5	55				
C12orf56	115749	broad.mit.edu	37	12	64661051	64661051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:64661051G>A	ENST00000543942.2	-	13	2407	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P434L|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	594										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTGCAAGGCTGGCATGTGAAT	0.353																																						uc001ssa.3		NA																	0					0						c.(1300-1302)CCA>CTA		hypothetical protein LOC115749							58.0	55.0	56.0					12																	64661051		1835	4070	5905	SO:0001583	missense	115749							g.chr12:64661051G>A		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1781C>T	12.37:g.64661051G>A	ENSP00000446101:p.Pro594Leu					uc001srx.2_Intron|C12orf56_uc001sry.2_Missense_Mutation_p.P176L|C12orf56_uc001srz.2_Missense_Mutation_p.P76L	p.P434L	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	11	1301	-			597						Missense_Mutation	SNP	ENST00000543942.2	37	c.1301C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.939036	0.73557	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.16	5.16	0.70880	.	0.304727	0.32231	N	0.006392	T	0.77698	0.4169	M	0.73598	2.24	0.42835	D	0.994036	D;D	0.89917	0.979;1.0	P;D	0.87578	0.801;0.998	T	0.78188	-0.2301	8	.	.	.	-1.514	14.0181	0.64536	0.0:0.0:1.0:0.0	.	434;597	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	L	434;595;597	.	.	P	-	2	0	C12orf56	62947318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.546000	0.45778	2.693000	0.91896	0.561000	0.74099	CCA		0.353	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		4	17	0	0	0	0	4	17				
SRSF9	8683	broad.mit.edu	37	12	120901793	120901793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:120901793G>A	ENST00000229390.3	-	3	665	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A161V(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTACGCAGGGCATATTCCAT	0.488																																						uc001tyi.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(481-483)GCC>GTC		splicing factor, arginine/serine-rich 9							271.0	232.0	245.0					12																	120901793		2203	4300	6503	SO:0001583	missense	8683				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	g.chr12:120901793G>A	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.482C>T	12.37:g.120901793G>A	ENSP00000229390:p.Ala161Val						p.A161V	NM_003769	NP_003760	Q13242	SRSF9_HUMAN			3	628	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		161			RRM 2.		Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	c.482C>T	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077968	0.94000	.	.	ENSG00000111786	ENST00000229390	T	0.35973	1.28	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.056779	0.64402	D	0.000002	T	0.71995	0.3406	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78321	-0.2249	10	0.72032	D	0.01	.	19.9227	0.97093	0.0:0.0:1.0:0.0	.	161	Q13242	SRSF9_HUMAN	V	161	ENSP00000229390:A161V	ENSP00000229390:A161V	A	-	2	0	SRSF9	119386176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.833000	0.92089	2.879000	0.98667	0.650000	0.86243	GCC		0.488	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		5	192	0	0	0	0	5	192				
NUPL1	9818	broad.mit.edu	37	13	25875965	25875965	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:25875965C>T	ENST00000381736.3	+	1	304	c.54C>T	c.(52-54)gcC>gcT	p.A18A	RP11-271M24.2_ENST00000568856.2_lincRNA|NUPL1_ENST00000463407.1_Silent_p.A18A|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Silent_p.A18A	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	18	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCACCGTGGCCGCCGGCGGGA	0.667																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NA																	0					0						c.(52-54)GCC>GCT		nucleoporin like 1 isoform a							28.0	31.0	30.0					13																	25875965		2201	4297	6498	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25875965C>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.54C>T	13.37:g.25875965C>T						NUPL1_uc001uqg.1_Silent_p.A18A|NUPL1_uc001uqj.2_Silent_p.A18A	p.A18A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	1	300	+		Lung SC(185;0.0225)|Breast(139;0.0351)	18			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.54C>T	CCDS9314.1																																																																																				0.667	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			4	34	0	0	0	0	4	34				
GPC5	2262	broad.mit.edu	37	13	92346021	92346021	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:92346021C>T	ENST00000377067.3	+	3	1278	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	302					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGGAAGAACTCTCGGATGCAA	0.493																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(904-906)CTC>CTT		glypican 5 precursor							144.0	133.0	137.0					13																	92346021		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92346021C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.906C>T	13.37:g.92346021C>T							p.L302L	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1272	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	302					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.906C>T	CCDS9468.1																																																																																				0.493	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		17	76	0	0	0	0	17	76				
OR4N2	390429	broad.mit.edu	37	14	20296100	20296100	+	Missense_Mutation	SNP	C	C	T	rs546678160		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:20296100C>T	ENST00000315947.1	+	1	493	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	OR4N2_ENST00000568211.1_Missense_Mutation_p.R165C	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCATCCTCCGCTTGCCTTT	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		25753	0.001		0.0	False		,,,				2504	0.0					uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(493-495)CGC>TGC		olfactory receptor, family 4, subfamily N,							118.0	126.0	123.0					14																	20296100		2203	4297	6500	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296100C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.493C>T	14.37:g.20296100C>T	ENSP00000319601:p.Arg165Cys						p.R165C	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	493	+	all_cancers(95;0.00108)		165			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.493C>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	8.732	0.916897	0.17907	.	.	ENSG00000176294	ENST00000315947	T	0.00188	8.59	4.52	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.130327	0.35646	N	0.003078	T	0.00178	0.0005	L	0.51422	1.61	0.09310	N	1	B	0.18863	0.031	B	0.21546	0.035	T	0.31530	-0.9940	10	0.59425	D	0.04	-0.9952	8.9451	0.35753	0.1654:0.6733:0.1612:0.0	.	165	Q8NGD1	OR4N2_HUMAN	C	165	ENSP00000319601:R165C	ENSP00000319601:R165C	R	+	1	0	OR4N2	19365940	0.000000	0.05858	0.174000	0.22961	0.769000	0.43574	-1.213000	0.02991	1.194000	0.43101	0.585000	0.79938	CGC		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			14	239	0	0	0	0	14	239				
MYH7	4625	broad.mit.edu	37	14	23891477	23891477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:23891477G>A	ENST00000355349.3	-	25	3319	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1053					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCTTCCGCTTCGCTCGC	0.582																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(3157-3159)CGG>TGG		myosin, heavy chain 7, cardiac muscle, beta							138.0	110.0	120.0					14																	23891477		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23891477G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3157C>T	14.37:g.23891477G>A	ENSP00000347507:p.Arg1053Trp						p.R1053W	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	25	3263	-	all_cancers(95;2.54e-05)		1053			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3157C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404281	0.62288	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95377	-3.69	4.64	-0.873	0.10635	.	.	.	.	.	D	0.98469	0.9490	H	0.97516	4.02	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.99727	1.1011	9	0.87932	D	0	.	17.6545	0.88174	0.0:0.0:0.1923:0.8077	.	1053	P12883	MYH7_HUMAN	W	1053	ENSP00000347507:R1053W	ENSP00000347507:R1053W	R	-	1	2	MYH7	22961317	1.000000	0.71417	0.987000	0.45799	0.860000	0.49131	2.458000	0.45014	-0.242000	0.09667	-1.028000	0.02416	CGG		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	61	0	0	0	0	9	61				
PRKCH	5583	broad.mit.edu	37	14	61952305	61952305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:61952305G>A	ENST00000332981.5	+	10	1749	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	PRKCH_ENST00000555082.1_Missense_Mutation_p.R294Q	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GATGAAGCACGAGCTCGCTTC	0.433																																					Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1363-1365)CGA>CAA		protein kinase C, eta							261.0	250.0	254.0					14																	61952305		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61952305G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1364G>A	14.37:g.61952305G>A	ENSP00000329127:p.Arg455Gln					PRKCH_uc010tsa.1_Missense_Mutation_p.R294Q|PRKCH_uc010tsb.1_Missense_Mutation_p.R23Q	p.R455Q	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	10	1669	+			455			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1364G>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128474	0.94473	.	.	ENSG00000027075	ENST00000555185;ENST00000332981;ENST00000555082	T;T;T	0.63913	-0.07;-0.07;-0.07	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.64371	0.2592	N	0.10629	0.01	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.70274	-0.4917	10	0.51188	T	0.08	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	455	P24723	KPCL_HUMAN	Q	23;455;294	ENSP00000451871:R23Q;ENSP00000329127:R455Q;ENSP00000450981:R294Q	ENSP00000329127:R455Q	R	+	2	0	PRKCH	61022058	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CGA		0.433	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		40	215	0	0	0	0	40	215				
ABCD4	5826	broad.mit.edu	37	14	74757040	74757040	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:74757040C>T	ENST00000356924.4	-	12	1424	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	ABCD4_ENST00000298816.7_Silent_p.K323K|ABCD4_ENST00000557554.1_5'Flank|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	427	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCAAGGAGGTCTTGCCAGTGC	0.627											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(1279-1281)AAG>AAA		ATP-binding cassette, sub-family D, member 4							108.0	111.0	110.0					14																	74757040		2203	4300	6503	SO:0001819	synonymous_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74757040C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1281G>A	14.37:g.74757040C>T			OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1155	ABCD4_uc001xps.2_Silent_p.K268K|ABCD4_uc001xpt.2_Silent_p.K268K|ABCD4_uc010tur.1_Silent_p.K323K|ABCD4_uc001xpu.2_Silent_p.K164K	p.K427K	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	12	1433	-			427			ABC transporter.|ATP (Potential).		A8K5L7|Q6IAQ0|Q96E75	Silent	SNP	ENST00000356924.4	37	c.1281G>A	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303903	0.23736	.	.	ENSG00000119688	ENST00000556517	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.65863	0.2732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62770	-0.6784	4	.	.	.	.	13.4611	0.61227	0.0:0.9288:0.0:0.0712	.	.	.	.	K	39	.	.	R	-	2	0	ABCD4	73826793	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.899000	0.48679	2.786000	0.95864	0.561000	0.74099	AGA		0.627	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		26	128	0	0	0	0	26	128				
CASC5	57082	broad.mit.edu	37	15	40954309	40954309	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:40954309C>T	ENST00000346991.5	+	27	7342	c.6952C>T	c.(6952-6954)Ctg>Ttg	p.L2318L	CASC5_ENST00000399668.2_Silent_p.L2292L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2318					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAAAGTGCCACTGGAGAACAA	0.433																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(6952-6954)CTG>TTG		cancer susceptibility candidate 5 isoform 1							203.0	187.0	192.0					15																	40954309		1925	4139	6064	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40954309C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6952C>T	15.37:g.40954309C>T						CASC5_uc010bbt.1_Silent_p.L2292L	p.L2318L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	27	7113	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2318					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.6952C>T	CCDS42023.1																																																																																				0.433	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		17	84	0	0	0	0	17	84				
ABHD2	11057	broad.mit.edu	37	15	89698752	89698752	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:89698752C>T	ENST00000352732.5	+	5	1045	c.525C>T	c.(523-525)cgC>cgT	p.R175R	ABHD2_ENST00000565973.1_Silent_p.R175R|ABHD2_ENST00000355100.3_Silent_p.R175R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	175					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTCGCCACGCATGTTCACCT	0.483																																					Colon(11;252 417 24570 33239 41878)	uc002bnj.2		NA																	0				ovary(1)|lung(1)	2						c.(523-525)CGC>CGT		alpha/beta hydrolase domain containing protein							129.0	111.0	117.0					15																	89698752		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89698752C>T	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.525C>T	15.37:g.89698752C>T						ABHD2_uc002bnk.2_Silent_p.R175R	p.R175R	NM_007011	NP_008942	P08910	ABHD2_HUMAN			10	1442	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		175					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.525C>T	CCDS10348.1																																																																																				0.483	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			27	96	0	0	0	0	27	96				
TP53	7157	broad.mit.edu	37	17	7578503	7578503	+	Missense_Mutation	SNP	C	C	T	rs587782620		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:7578503C>T	ENST00000269305.4	-	5	616	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TP53_ENST00000420246.2_Missense_Mutation_p.V143M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000359597.4_Missense_Mutation_p.V143M|TP53_ENST00000413465.2_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACAGCTGCACAGGGCAGGTC	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	p.V143M(16)|p.V143A(14)|p.0?(7)|p.V143E(4)|p.V143L(4)|p.V143V(2)|p.V143fs*27(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	haematopoietic_and_lymphoid_tissue(8)|breast(6)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|lung(3)|ovary(3)|salivary_gland(2)|large_intestine(2)|oesophagus(2)|cervix(1)|stomach(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(427-429)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							56.0	56.0	56.0					17																	7578503		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578503C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.427G>A	17.37:g.7578503C>T	ENSP00000269305:p.Val143Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V143M|TP53_uc002gih.2_Missense_Mutation_p.V143M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V11M|TP53_uc010cng.1_Missense_Mutation_p.V11M|TP53_uc002gii.1_Missense_Mutation_p.V11M|TP53_uc010cnh.1_Missense_Mutation_p.V143M|TP53_uc010cni.1_Missense_Mutation_p.V143M|TP53_uc002gij.2_Missense_Mutation_p.V143M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V50M|TP53_uc002gio.2_Missense_Mutation_p.V11M|TP53_uc010vug.1_Missense_Mutation_p.V104M	p.V143M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	621	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.427G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235817	0.39498	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99684	0.9881	M	0.76328	2.33	0.43018	D	0.994566	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.995;0.994;0.985;0.994;0.998;0.998;0.995	D	0.98175	1.0454	10	0.87932	D	0	-32.0412	7.6505	0.28346	0.1615:0.7548:0.0:0.0837	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143M;ENSP00000352610:V143M;ENSP00000269305:V143M;ENSP00000398846:V143M;ENSP00000391127:V143M;ENSP00000391478:V143M;ENSP00000425104:V11M;ENSP00000423862:V50M;ENSP00000424104:V143M	ENSP00000269305:V143M	V	-	1	0	TP53	7519228	0.854000	0.29725	0.596000	0.28811	0.011000	0.07611	1.561000	0.36342	1.448000	0.47680	0.655000	0.94253	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	46	0	0	0	0	10	46				
TBC1D3B	414059	broad.mit.edu	37	17	34497333	34497333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:34497333C>T	ENST00000454519.3	-	9	732	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TBC1D3B_ENST00000398801.3_Missense_Mutation_p.A195T|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	195	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGAACAAGGCGGCGATGTGG	0.602																																						uc002hky.2		NA																	0					0						c.(583-585)GCC>ACC		TBC1 domain family, member 3B							13.0	11.0	11.0					17																	34497333		1150	2365	3515	SO:0001583	missense	414059					intracellular	Rab GTPase activator activity	g.chr17:34497333C>T	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.583G>A	17.37:g.34497333C>T	ENSP00000390852:p.Ala195Thr					uc002khr.2_5'Flank|uc002hlc.2_5'Flank	p.A195T	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	9	733	-		Breast(25;0.102)|Ovarian(249;0.17)	195			Rab-GAP TBC.		A8K892	Missense_Mutation	SNP	ENST00000454519.3	37	c.583G>A	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.427386	0.43122	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.29917	1.55;1.55	.	.	.	Rab-GAP/TBC domain (4);	0.064415	0.64402	U	0.000009	T	0.35008	0.0917	M	0.78637	2.42	0.38365	D	0.944712	P	0.51791	0.948	P	0.44673	0.457	T	0.41627	-0.9498	8	0.72032	D	0.01	.	.	.	.	.	195	A6NDS4	TBC3B_HUMAN	T	195	ENSP00000381781:A195T;ENSP00000390852:A195T	ENSP00000340678:A195T	A	-	1	0	TBC1D3B	31521446	0.999000	0.42202	0.005000	0.12908	0.005000	0.04900	2.960000	0.49161	0.172000	0.19760	0.175000	0.17021	GCC		0.602	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		12	191	0	0	0	0	12	191				
GRIN2C	2905	broad.mit.edu	37	17	72851194	72851194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:72851194G>A	ENST00000293190.5	-	2	184	c.38C>T	c.(37-39)tCg>tTg	p.S13L	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.S13L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	13					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCGAAGAGCGAGGTGAGCAA	0.682																																						uc002jlt.1		NA																	0				ovary(2)|breast(2)	4						c.(37-39)TCG>TTG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						13.0	17.0	16.0					17																	72851194		2160	4235	6395	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72851194G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.38C>T	17.37:g.72851194G>A	ENSP00000293190:p.Ser13Leu					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S13L|GRIN2C_uc002jlv.1_Missense_Mutation_p.S13L	p.S13L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			2	194	-	all_lung(278;0.172)|Lung NSC(278;0.207)		13					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.38C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103724	0.06967	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.10005	2.92	4.49	1.3	0.21679	.	0.379751	0.19389	N	0.115444	T	0.06142	0.0159	L	0.41236	1.265	0.21527	N	0.999653	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.44892	-0.9298	10	0.02654	T	1	.	4.387	0.11321	0.2291:0.3561:0.4147:0.0	.	13;47;13	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	L	13;47	ENSP00000293190:S13L	ENSP00000293190:S13L	S	-	2	0	GRIN2C	70362789	0.154000	0.22792	0.207000	0.23584	0.034000	0.12701	0.587000	0.23909	0.139000	0.18822	-1.161000	0.01788	TCG		0.682	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			12	35	0	0	0	0	12	35				
NETO1	81832	broad.mit.edu	37	18	70532113	70532113	+	Silent	SNP	T	T	C			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr18:70532113T>C	ENST00000327305.6	-	3	807	c.150A>G	c.(148-150)ggA>ggG	p.G50G	NETO1_ENST00000583169.1_Silent_p.G50G|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Silent_p.G49G|NETO1_ENST00000397929.1_Silent_p.G49G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	50	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAAAGATACCTCCCTCTGCAT	0.423																																						uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(148-150)GGA>GGG		neuropilin- and tolloid-like protein 1 isoform 3							122.0	111.0	115.0					18																	70532113		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532113T>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.150A>G	18.37:g.70532113T>C						NETO1_uc002lkx.1_Silent_p.G49G|NETO1_uc002lky.1_Silent_p.G50G|NETO1_uc002lkz.2_Silent_p.G49G	p.G50G	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	3	434	-		Esophageal squamous(42;0.129)	50			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.150A>G	CCDS12000.1																																																																																				0.423	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		8	40	0	0	0	0	8	40				
MED16	10025	broad.mit.edu	37	19	873494	873494	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:873494C>G	ENST00000589119.1	-	10	1859	c.1860G>C	c.(1858-1860)tgG>tgC	p.W620C	MED16_ENST00000269814.4_Missense_Mutation_p.W620C|MED16_ENST00000325464.1_Missense_Mutation_p.W620C|MED16_ENST00000312090.6_Missense_Mutation_p.W620C|MED16_ENST00000395808.3_Missense_Mutation_p.W620C|MED16_ENST00000606828.1_5'Flank			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	620					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCCCACCCACTGCAAGA	0.597																																						uc002lqd.1		NA																	0					0						c.(1858-1860)TGG>TGC		mediator complex subunit 16							118.0	89.0	99.0					19																	873494		2202	4296	6498	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:873494C>G	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1860G>C	19.37:g.873494C>G	ENSP00000464810:p.Trp620Cys					MED16_uc010drw.1_Missense_Mutation_p.W445C|MED16_uc002lqe.2_Missense_Mutation_p.W609C|MED16_uc002lqf.2_Missense_Mutation_p.W609C|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.W540C|MED16_uc010xfx.1_Missense_Mutation_p.W465C|MED16_uc010xfy.1_Missense_Mutation_p.W197C	p.W620C	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	2011	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	620					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1860G>C	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.166097	0.78339	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000424039	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.999;0.998;0.999	D	0.95350	0.8446	10	0.72032	D	0.01	-19.0695	16.295	0.82765	0.0:1.0:0.0:0.0	.	620;620;620;620;620	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	C	620	ENSP00000325612:W620C;ENSP00000308528:W620C;ENSP00000379153:W620C;ENSP00000269814:W620C	ENSP00000269814:W620C	W	-	3	0	MED16	824494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.185000	0.77714	2.075000	0.62263	0.556000	0.70494	TGG		0.597	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		4	84	0	0	0	0	4	84				
BEST2	54831	broad.mit.edu	37	19	12866479	12866479	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:12866479C>T	ENST00000549706.1	+	7	1089	c.765C>T	c.(763-765)cgC>cgT	p.R255R	BEST2_ENST00000553030.1_Silent_p.R255R|BEST2_ENST00000042931.1_Silent_p.R255R			Q8NFU1	BEST2_HUMAN	bestrophin 2	255					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCATTGGTCGCCAGTTCCTGG	0.607																																						uc002mux.2		NA																	0				ovary(1)|pancreas(1)	2						c.(763-765)CGC>CGT		vitelliform macular dystrophy 2-like 1							98.0	100.0	99.0					19																	12866479		2032	4223	6255	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12866479C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.765C>T	19.37:g.12866479C>T							p.R255R	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			6	765	+			255			Extracellular (Potential).		Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.765C>T	CCDS42506.1																																																																																				0.607	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		16	88	0	0	0	0	16	88				
MEGF8	1954	broad.mit.edu	37	19	42847639	42847639	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42847639G>A	ENST00000251268.6	+	9	1524	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	MEGF8_ENST00000334370.4_Silent_p.A508A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	508					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCGAGCAGCGCCTCCCAGTG	0.642																																						uc002otl.3		NA																	0				ovary(1)	1						c.(1522-1524)GCG>GCA		multiple EGF-like-domains 8							62.0	54.0	57.0					19																	42847639		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42847639G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1524G>A	19.37:g.42847639G>A						MEGF8_uc002otm.3_Silent_p.A49A	p.A508A	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			9	2159	+		Prostate(69;0.00682)	508			Extracellular (Potential).|Kelch 5.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.1524G>A																																																																																					0.642	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	59	0	0	0	0	7	59				
LIPE	3991	broad.mit.edu	37	19	42914528	42914528	+	Silent	SNP	G	G	C	rs151324837	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42914528G>C	ENST00000244289.4	-	2	1626	c.1350C>G	c.(1348-1350)acC>acG	p.T450T	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	450					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGAAGTCGGCGGTGAGCCCCT	0.667																																						uc002otr.2		NA																	0				ovary(1)|breast(1)	2						c.(1348-1350)ACC>ACG		hormone-sensitive lipase							31.0	32.0	31.0					19																	42914528		2202	4300	6502	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42914528G>C	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1350C>G	19.37:g.42914528G>C						uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.T195T	p.T450T	NM_005357	NP_005348	Q05469	LIPS_HUMAN			2	1627	-		Prostate(69;0.00682)	450					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1350C>G	CCDS12607.1																																																																																				0.667	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		3	26	0	0	0	0	3	26				
MARK4	57787	broad.mit.edu	37	19	45762439	45762439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:45762439G>A	ENST00000262891.4	+	2	575	c.244G>A	c.(244-246)Ggt>Agt	p.G82S	MARK4_ENST00000300843.4_Missense_Mutation_p.G82S	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CATCCTCACTGGTCGGGAGGT	0.617																																						uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(244-246)GGT>AGT		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							37.0	33.0	34.0					19																	45762439		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45762439G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.244G>A	19.37:g.45762439G>A	ENSP00000262891:p.Gly82Ser					MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.G82S	p.G82S			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	249	+		all_neural(266;0.224)|Ovarian(192;0.231)	82			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.244G>A	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553377	0.86127	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.32753	1.44;1.44	4.3	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071627	0.53938	N	0.000053	T	0.47116	0.1428	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.44513	-0.9323	10	0.66056	D	0.02	.	10.2266	0.43229	0.0985:0.0:0.9015:0.0	.	82;82	Q96L34;Q96L34-2	MARK4_HUMAN;.	S	82	ENSP00000262891:G82S;ENSP00000300843:G82S	ENSP00000262891:G82S	G	+	1	0	MARK4	50454279	1.000000	0.71417	0.824000	0.32777	0.978000	0.69477	9.234000	0.95347	1.181000	0.42912	0.555000	0.69702	GGT		0.617	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		3	27	0	0	0	0	3	27				
MYH14	79784	broad.mit.edu	37	19	50805052	50805052	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:50805052C>T	ENST00000596571.1	+	37	5481	c.5481C>T	c.(5479-5481)gcC>gcT	p.A1827A	MYH14_ENST00000425460.1_Silent_p.A1835A|MYH14_ENST00000440075.2_Silent_p.A1868A|MYH14_ENST00000598205.1_Silent_p.A1835A|MYH14_ENST00000262269.8_Silent_p.A1868A|MYH14_ENST00000376970.2_Silent_p.A1860A|MYH14_ENST00000601313.1_Silent_p.A1868A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1827					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGCCCGTGCCCGCCACAAGA	0.637																																						uc002prr.1		NA																	0				central_nervous_system(1)	1						c.(5479-5481)GCC>GCT		myosin, heavy chain 14 isoform 2							33.0	39.0	37.0					19																	50805052		2086	4207	6293	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50805052C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5481C>T	19.37:g.50805052C>T						MYH14_uc010enu.1_Silent_p.A1868A|MYH14_uc002prq.1_Silent_p.A1835A|MYH14_uc010ycb.1_Silent_p.A178A|MYH14_uc002prs.1_Silent_p.A178A	p.A1827A	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	38	5528	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1827			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.5481C>T	CCDS59411.1																																																																																				0.637	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		6	33	0	0	0	0	6	33				
DNAAF3	352909	broad.mit.edu	37	19	55670685	55670685	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:55670685G>A	ENST00000524407.2	-	12	1404	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.P119S|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000391720.4_Silent_p.S504S|DNAAF3_ENST00000587789.2_5'UTR|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.S524S|DNAAF3_ENST00000455045.1_Silent_p.S403S|TNNI3_ENST00000344887.5_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	457					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CTGATTCCTGGGACTTGCAGA	0.612																																						uc002qji.1		NA																	0					0						c.(1369-1371)TCC>TCT		RecName: Full=UPF0470 protein C19orf51;							39.0	44.0	42.0					19																	55670685		1978	4163	6141	SO:0001819	synonymous_variant	352909							g.chr19:55670685G>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1371C>T	19.37:g.55670685G>A						TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Silent_p.S272S|C19orf51_uc002qjj.1_Silent_p.S504S|C19orf51_uc002qjk.1_Silent_p.S403S|C19orf51_uc002qjl.1_Silent_p.S524S	p.S457S			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1405	-			457					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.1371C>T	CCDS59422.1																																																																																				0.612	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		9	51	0	0	0	0	9	51				
BAZ2B	29994	broad.mit.edu	37	2	160206265	160206265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:160206265G>A	ENST00000392783.2	-	28	5312	c.4817C>T	c.(4816-4818)gCt>gTt	p.A1606V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1570V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1572V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1506V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGGATTCTGAGCAGAAGATCC	0.423																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(4816-4818)GCT>GTT		bromodomain adjacent to zinc finger domain, 2B							95.0	91.0	92.0					2																	160206265		1976	4160	6136	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206265G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4817C>T	2.37:g.160206265G>A	ENSP00000376534:p.Ala1606Val					BAZ2B_uc002uap.2_Missense_Mutation_p.A1570V	p.A1606V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	5169	-			1606					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4817C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638145	0.29157	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.60797	0.26;0.23;0.26;0.16	5.59	3.78	0.43462	.	0.445392	0.16113	N	0.229017	T	0.39145	0.1067	N	0.20685	0.6	0.20975	N	0.999812	B;B	0.16396	0.0;0.017	B;B	0.12156	0.001;0.007	T	0.20207	-1.0282	10	0.25106	T	0.35	0.0122	8.8502	0.35194	0.23:0.0:0.77:0.0	.	1570;1606	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1570;1606;1572;1506	ENSP00000376533:A1570V;ENSP00000376534:A1606V;ENSP00000348087:A1572V;ENSP00000339670:A1506V	ENSP00000339670:A1506V	A	-	2	0	BAZ2B	159914511	0.677000	0.27577	0.949000	0.38748	0.991000	0.79684	1.427000	0.34881	0.701000	0.31803	0.655000	0.94253	GCT		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	62	0	0	0	0	3	62				
EVX2	344191	broad.mit.edu	37	2	176947144	176947144	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:176947144G>A	ENST00000308618.4	-	2	597	c.461C>T	c.(460-462)aCg>aTg	p.T154M		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	154					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCCGACGTCGTGGTGCCGGC	0.711																																						uc010zeu.1		NA																	0				ovary(2)	2						c.(460-462)ACG>ATG		even-skipped homeobox 2							18.0	20.0	19.0					2																	176947144		1941	3906	5847	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947144G>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.461C>T	2.37:g.176947144G>A	ENSP00000312385:p.Thr154Met						p.T154M	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	647	-			154						Missense_Mutation	SNP	ENST00000308618.4	37	c.461C>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320320	0.81469	.	.	ENSG00000174279	ENST00000308618	D	0.91996	-2.95	4.72	4.72	0.59763	.	0.385762	0.28889	N	0.013814	D	0.90386	0.6991	L	0.39898	1.24	0.51233	D	0.999917	D	0.61697	0.99	P	0.47299	0.543	D	0.89999	0.4113	10	0.37606	T	0.19	-30.7018	17.8636	0.88789	0.0:0.0:1.0:0.0	.	154	Q03828	EVX2_HUMAN	M	154	ENSP00000312385:T154M	ENSP00000312385:T154M	T	-	2	0	EVX2	176655390	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.439000	0.59968	2.465000	0.83290	0.655000	0.94253	ACG		0.711	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	30	0	0	0	0	4	30				
TTN	7273	broad.mit.edu	37	2	179411521	179411521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:179411521C>T	ENST00000591111.1	-	291	89935	c.89711G>A	c.(89710-89712)cGt>cAt	p.R29904H	TTN_ENST00000342992.6_Missense_Mutation_p.R28977H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22672H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31545H|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22605H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22480H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29904	Fibronectin type-III 118. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGGCTTACGCTCTATGAT	0.498																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86929-86931)CGT>CAT		titin isoform N2-A							84.0	85.0	85.0					2																	179411521		2105	4232	6337	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411521C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89711G>A	2.37:g.179411521C>T	ENSP00000465570:p.Arg29904His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22672H|TTN_uc010zfi.1_Missense_Mutation_p.R22605H|TTN_uc010zfj.1_Missense_Mutation_p.R22480H	p.R28977H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	87154	-			29904					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86930G>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.964956	0.74131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76328	0.3972	M	0.79693	2.465	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.98;0.98;0.989	T	0.77466	-0.2577	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	22480;22605;22672;29904	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28977;22480;22672;22605;22477	ENSP00000343764:R28977H;ENSP00000434586:R22480H;ENSP00000340554:R22672H;ENSP00000352154:R22605H	ENSP00000340554:R22672H	R	-	2	0	TTN	179119767	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.074000	0.71253	2.854000	0.98071	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	59	0	0	0	0	12	59				
DNMT3B	1789	broad.mit.edu	37	20	31385069	31385069	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:31385069G>T	ENST00000328111.2	+	14	1775	c.1454G>T	c.(1453-1455)cGa>cTa	p.R485L	DNMT3B_ENST00000443239.3_Missense_Mutation_p.R423L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R477L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R389L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R465L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R465L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R465L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	485	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCGAGGGCCGAGAGCTGCTG	0.587																																						uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(1453-1455)CGA>CTA		DNA cytosine-5 methyltransferase 3 beta isoform							86.0	87.0	87.0					20																	31385069		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385069G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1454G>T	20.37:g.31385069G>T	ENSP00000328547:p.Arg485Leu					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R465L|DNMT3B_uc002wye.2_Missense_Mutation_p.R465L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R423L|DNMT3B_uc010zua.1_Missense_Mutation_p.R389L|DNMT3B_uc002wyf.2_Missense_Mutation_p.R477L|DNMT3B_uc002wyg.2_Missense_Mutation_p.R184L	p.R485L	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			14	1775	+			485			PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1454G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453613	0.26161	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.43	4.48	0.54585	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.187258	0.46145	D	0.000304	D	0.96355	0.8811	L	0.52364	1.645	0.58432	D	0.999999	B;B;B;B;B;B;P	0.39759	0.013;0.026;0.001;0.087;0.045;0.087;0.687	B;B;B;B;B;B;B	0.35073	0.004;0.004;0.002;0.017;0.017;0.017;0.195	D	0.95118	0.8244	10	0.44086	T	0.13	-4.0033	10.0823	0.42397	0.1711:0.0:0.8289:0.0	.	389;423;184;477;465;465;485	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	485;465;465;423;389;465;477	ENSP00000328547:R485L;ENSP00000313397:R465L;ENSP00000337764:R465L;ENSP00000403169:R423L;ENSP00000412305:R389L;ENSP00000345105:R465L;ENSP00000201963:R477L	ENSP00000201963:R477L	R	+	2	0	DNMT3B	30848730	0.272000	0.24172	0.864000	0.33941	0.332000	0.28634	2.950000	0.49081	1.431000	0.47355	-0.140000	0.14226	CGA		0.587	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		16	117	1	0	1.36e-06	1.68e-06	16	117				
ZMYND8	23613	broad.mit.edu	37	20	45839455	45839455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:45839455G>A	ENST00000311275.7	-	22	3765	c.3512C>T	c.(3511-3513)aCg>aTg	p.T1171M	ZMYND8_ENST00000352431.2_Missense_Mutation_p.T1145M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T1090M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T1171M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.T1039M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T1120M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T1153M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T1226M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T1173M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T1199M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T1219M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T1119M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T1121M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1171	Interacts with PRKCB1.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGGCTCTTCGTGCTGGTACT	0.542																																						uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3511-3513)ACG>ATG		zinc finger, MYND-type containing 8 isoform b							189.0	168.0	175.0					20																	45839455		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45839455G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3512C>T	20.37:g.45839455G>A	ENSP00000312237:p.Thr1171Met					ZMYND8_uc010ghq.1_Nonsense_Mutation_p.R808*|ZMYND8_uc010ghr.1_Missense_Mutation_p.T1101M|ZMYND8_uc002xst.1_Missense_Mutation_p.T1053M|ZMYND8_uc002xsu.1_Missense_Mutation_p.T1072M|ZMYND8_uc002xsv.1_Missense_Mutation_p.T1099M|ZMYND8_uc002xsw.1_Missense_Mutation_p.T905M|ZMYND8_uc002xsx.1_Missense_Mutation_p.T877M|ZMYND8_uc002xsy.1_Missense_Mutation_p.T1128M|ZMYND8_uc002xsz.1_Missense_Mutation_p.T1090M|ZMYND8_uc010zxy.1_Missense_Mutation_p.T1226M|ZMYND8_uc002xtb.1_Missense_Mutation_p.T1173M|ZMYND8_uc002xss.2_Missense_Mutation_p.T1171M|ZMYND8_uc010zxz.1_Missense_Mutation_p.T1039M|ZMYND8_uc002xtc.1_Missense_Mutation_p.T1145M|ZMYND8_uc002xtd.1_Missense_Mutation_p.T1120M|ZMYND8_uc002xte.1_Missense_Mutation_p.T1153M|ZMYND8_uc010zya.1_Missense_Mutation_p.T1199M|ZMYND8_uc002xtf.1_Missense_Mutation_p.T1219M|ZMYND8_uc002xsr.1_Missense_Mutation_p.T270M	p.T1171M	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		22	3766	-			1171			Interacts with PRKCB1.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3512C>T		.	.	.	.	.	.	.	.	.	.	G	8.464	0.855933	0.17106	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D	0.90955	-1.9;-1.75;-1.89;-1.8;-1.86;-1.8;-1.79;-2.76;-1.82;-1.96;-1.88	5.0	4.03	0.46877	.	0.615937	0.14623	N	0.308319	D	0.91690	0.7373	L	0.36672	1.1	0.09310	N	1	P;D;P;D;D;B;P;D;D;P;P;D;D;B;D	0.76494	0.606;0.983;0.809;0.97;0.987;0.423;0.928;0.987;0.972;0.953;0.953;0.964;0.999;0.298;0.964	B;P;B;P;P;B;B;P;B;P;P;B;D;B;B	0.68039	0.062;0.73;0.313;0.73;0.821;0.185;0.429;0.821;0.433;0.564;0.564;0.354;0.955;0.09;0.354	D	0.83868	0.0272	10	0.87932	D	0	-0.0078	10.7073	0.45962	0.0:0.1432:0.708:0.1488	.	1039;1226;1121;1219;1153;1120;1145;1173;1171;1090;1148;1119;1092;1073;1171	B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	M	1120;1171;1039;1154;1220;1145;1171;1226;1199;1090;1173;1121;1119	ENSP00000354166:T1120M;ENSP00000312237:T1171M;ENSP00000392964:T1039M;ENSP00000335537:T1145M;ENSP00000379577:T1171M;ENSP00000439800:T1226M;ENSP00000348246:T1199M;ENSP00000396725:T1090M;ENSP00000418210:T1173M;ENSP00000361093:T1121M;ENSP00000443086:T1119M	ENSP00000262975:T1154M	T	-	2	0	ZMYND8	45272862	0.701000	0.27806	0.006000	0.13384	0.003000	0.03518	3.738000	0.55067	1.209000	0.43321	-0.302000	0.09304	ACG		0.542	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		10	89	0	0	0	0	10	89				
HIC2	23119	broad.mit.edu	37	22	21799898	21799898	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:21799898C>T	ENST00000443632.2	+	2	1086	c.714C>T	c.(712-714)agC>agT	p.S238S	HIC2_ENST00000407598.2_Silent_p.S238S|HIC2_ENST00000407464.2_Silent_p.S238S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	238					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACGGGAGCAGCGGGGGCTGCG	0.697																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NA																	0				skin(1)	1						c.(712-714)AGC>AGT		hypermethylated in cancer 2							11.0	15.0	14.0					22																	21799898		2183	4273	6456	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799898C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.714C>T	22.37:g.21799898C>T						HIC2_uc002zus.3_Silent_p.S238S	p.S238S	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	944	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	238					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.714C>T	CCDS13789.1																																																																																				0.697	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			6	34	0	0	0	0	6	34				
GGT1	2678	broad.mit.edu	37	22	24982181	24982181	+	Intron	SNP	C	C	T	rs111248278	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:24982181C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Silent_p.L207L	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGAGGCGGGGCAGCGCCCACA	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17484	0.0		0.0	False		,,,				2504	0.0					uc003aaq.2		NA																	0					0						c.(619-621)CTG>CTA		hypothetical protein LOC388886		C	,	2,4346		0,2,2172	61.0	75.0	70.0		,621	1.6	1.0	22	dbSNP_132	70	0,8540		0,0,4270	no	intron,coding-synonymous	GGT1,C22orf36	NM_013430.2,NM_207644.2	,	0,2,6442	TT,TC,CC		0.0,0.046,0.0155	,	,207/316	24982181	2,12886	2174	4270	6444	SO:0001627	intron_variant	388886							g.chr22:24982181C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2405C>T	22.37:g.24982181C>T						GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	p.L207L	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN			4	650	-			207			LRR 2.		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.621G>A	CCDS42992.1																																																																																				0.652	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		27	95	0	0	0	0	27	95				
CHL1	10752	broad.mit.edu	37	3	369940	369940	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:369940C>T	ENST00000256509.2	+	5	930	c.288C>T	c.(286-288)aaC>aaT	p.N96N	CHL1_ENST00000397491.2_Silent_p.N96N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGATCCCAAACGAGGGGCACA	0.388																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(286-288)AAC>AAT		cell adhesion molecule with homology to L1CAM							134.0	131.0	132.0					3																	369940		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:369940C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.288C>T	3.37:g.369940C>T						CHL1_uc003bot.2_Silent_p.N96N|CHL1_uc003bow.1_Silent_p.N96N|CHL1_uc011asi.1_Silent_p.N96N	p.N96N	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	5	559	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	96			Ig-like C2-type 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.288C>T	CCDS2556.1																																																																																				0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		14	80	0	0	0	0	14	80				
FGD5	152273	broad.mit.edu	37	3	14942543	14942543	+	Missense_Mutation	SNP	G	G	A	rs375051384		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:14942543G>A	ENST00000285046.5	+	9	3349	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R839H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1080	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCACAGACCGTGCCAACGAC	0.612																																						uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(3238-3240)CGT>CAT		FYVE, RhoGEF and PH domain containing 5		G	HIS/ARG	0,4238		0,0,2119	116.0	118.0	117.0		3239	2.2	0.2	3		117	4,8482		0,4,4239	no	missense	FGD5	NM_152536.3	29	0,4,6358	AA,AG,GG		0.0471,0.0,0.0314	possibly-damaging	1080/1463	14942543	4,12720	2119	4243	6362	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14942543G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3239G>A	3.37:g.14942543G>A	ENSP00000285046:p.Arg1080His					FGD5_uc011avk.1_Missense_Mutation_p.R1080H|FGD5_uc003bzd.2_Missense_Mutation_p.R158H	p.R1080H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			9	3349	+			1080			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3239G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	5.134	0.210312	0.09757	0.0	4.71E-4	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.62788	0.0;0.0	5.15	2.21	0.28008	Dbl homology (DH) domain (5);	0.255416	0.26038	N	0.026716	T	0.35480	0.0933	N	0.21097	0.63	0.25946	N	0.982814	B;B	0.32620	0.255;0.378	B;B	0.27500	0.08;0.08	T	0.36212	-0.9757	10	0.02654	T	1	-2.6434	6.7938	0.23715	0.3226:0.0:0.6774:0.0	.	839;1080	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	1080;839	ENSP00000285046:R1080H;ENSP00000445949:R839H	ENSP00000285046:R1080H	R	+	2	0	FGD5	14917547	0.567000	0.26626	0.204000	0.23530	0.999000	0.98932	0.947000	0.29082	0.132000	0.18615	0.591000	0.81541	CGT		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		22	101	0	0	0	0	22	101				
WDR49	151790	broad.mit.edu	37	3	167240197	167240197	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:167240197T>A	ENST00000308378.3	-	12	1929	c.1624A>T	c.(1624-1626)Aag>Tag	p.K542*	WDR49_ENST00000476376.1_Nonsense_Mutation_p.K367*|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAAATTTCCTTTTGAATCTCA	0.318																																						uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1624-1626)AAG>TAG		WD repeat domain 49							76.0	81.0	79.0					3																	167240197		2203	4299	6502	SO:0001587	stop_gained	151790							g.chr3:167240197T>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1624A>T	3.37:g.167240197T>A	ENSP00000311343:p.Lys542*					WDR49_uc003feu.1_Nonsense_Mutation_p.K367*|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.K542*	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			12	1930	-			542					Q8N297	Nonsense_Mutation	SNP	ENST00000308378.3	37	c.1624A>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.628880|3.628880	0.67015|0.67015	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000493061|ENST00000308378;ENST00000476376	.|.	.|.	.|.	5.23|5.23	2.09|2.09	0.27110|0.27110	.|.	1.347140|1.347140	0.04374|0.04374	N|N	0.359588|0.359588	T|.	0.21761|.	0.0524|.	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999987|0.999987	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49184|.	-0.8966|.	5|.	.|0.02654	.|T	.|1	.|.	4.0589|4.0589	0.09829|0.09829	0.0:0.5731:0.1927:0.2343|0.0:0.5731:0.1927:0.2343	.|.	.|.	.|.	.|.	N|X	113|542;367	.|.	.|ENSP00000311343:K542X	K|K	-|-	3|1	2|0	WDR49|WDR49	168722891|168722891	0.890000|0.890000	0.30428|0.30428	0.659000|0.659000	0.29680|0.29680	0.112000|0.112000	0.19704|0.19704	0.593000|0.593000	0.23999|0.23999	0.615000|0.615000	0.30124|0.30124	-0.248000|-0.248000	0.11899|0.11899	AAA|AAG		0.318	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		21	40	0	0	0	0	21	40				
ENPEP	2028	broad.mit.edu	37	4	111398075	111398075	+	Missense_Mutation	SNP	G	G	A	rs201187378		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:111398075G>A	ENST00000265162.5	+	1	847	c.505G>A	c.(505-507)Gtg>Atg	p.V169M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	169					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCAGGAGTACGTGGTGGTCGA	0.632																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(505-507)GTG>ATG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						90.0	101.0	97.0					4																	111398075		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398075G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.505G>A	4.37:g.111398075G>A	ENSP00000265162:p.Val169Met						p.V169M	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	847	+		Hepatocellular(203;0.217)	169			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.505G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	6.570	0.473500	0.12521	.	.	ENSG00000138792	ENST00000265162	T	0.04502	3.61	5.43	0.355	0.16069	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.396530	0.26072	N	0.026512	T	0.11067	0.0270	M	0.64080	1.96	0.31192	N	0.700809	D	0.71674	0.998	P	0.59487	0.858	T	0.05886	-1.0858	10	0.56958	D	0.05	.	5.826	0.18554	0.0693:0.4298:0.2875:0.2133	.	169	Q07075	AMPE_HUMAN	M	169	ENSP00000265162:V169M	ENSP00000265162:V169M	V	+	1	0	ENPEP	111617524	0.955000	0.32602	0.044000	0.18714	0.014000	0.08584	1.584000	0.36589	-0.283000	0.09115	-0.304000	0.09214	GTG		0.632	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			31	165	0	0	0	0	31	165				
RAPGEF2	9693	broad.mit.edu	37	4	160251524	160251524	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:160251524G>A	ENST00000264431.4	+	7	1277	c.858G>A	c.(856-858)gaG>gaA	p.E286E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	286	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGGTGGAAGAGCATTCAGTAG	0.378																																						uc003iqg.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(856-858)GAG>GAA		Rap guanine nucleotide exchange factor 2							134.0	126.0	129.0					4																	160251524		1871	4108	5979	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251524G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.858G>A	4.37:g.160251524G>A							p.E286E	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1168	+	all_hematologic(180;0.24)		286			N-terminal Ras-GEF.		D3DP27	Silent	SNP	ENST00000264431.4	37	c.858G>A	CCDS43277.1																																																																																				0.378	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		17	88	0	0	0	0	17	88				
HAND2	9464	broad.mit.edu	37	4	174449919	174449919	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:174449919G>A	ENST00000359562.4	-	1	1461	c.522C>T	c.(520-522)acC>acT	p.T174T	HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000507571.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	174					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTCACGTCGGTCTTCTTGA	0.627																																						uc003ith.1		NA																	0				skin(1)	1						c.(520-522)ACC>ACT		basic helix-loop-helix transcription factor							112.0	92.0	99.0					4																	174449919		2203	4300	6503	SO:0001819	synonymous_variant	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174449919G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.522C>T	4.37:g.174449919G>A						NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Nonsense_Mutation_p.R140*|HAND2_uc010ire.1_Silent_p.T174T	p.T174T	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1460	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	174					B6ECG9|O95300|O95301|P97833|Q494T1	Silent	SNP	ENST00000359562.4	37	c.522C>T	CCDS3819.1																																																																																				0.627	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			14	34	0	0	0	0	14	34				
HIST1H2BK	85236	broad.mit.edu	37	6	27114571	27114571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr6:27114571C>T	ENST00000356950.1	-	1	6	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.E3K|MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTCGCTGGTTCCGGCATGTTG	0.567																																						uc003nix.1		NA																	0					0						c.(7-9)GAA>AAA		histone cluster 1, H2bk							50.0	50.0	50.0					6																	27114571		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114571C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.7G>A	6.37:g.27114571C>T	ENSP00000349430:p.Glu3Lys					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.E3K	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	49	-			3					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.7G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574787	0.86542	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.17691	2.26;2.26	4.05	4.05	0.47172	.	.	.	.	.	T	0.13030	0.0316	M	0.77820	2.39	0.45676	D	0.998591	B	0.28760	0.221	B	0.22601	0.04	T	0.04128	-1.0975	9	0.56958	D	0.05	.	14.5252	0.67884	0.0:1.0:0.0:0.0	.	3	O60814	H2B1K_HUMAN	K	3	ENSP00000380100:E3K;ENSP00000349430:E3K	ENSP00000349430:E3K	E	-	1	0	HIST1H2BK	27222550	1.000000	0.71417	0.427000	0.26684	0.054000	0.15201	6.688000	0.74557	2.196000	0.70406	0.650000	0.86243	GAA		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		8	84	0	0	0	0	8	84				
EPDR1	54749	broad.mit.edu	37	7	37988614	37988614	+	Missense_Mutation	SNP	G	G	A	rs369217258		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:37988614G>A	ENST00000199448.4	+	2	821	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	EPDR1_ENST00000559325.1_Missense_Mutation_p.V268I|EPDR1_ENST00000425345.1_Missense_Mutation_p.V87I|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.V46I	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	148					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.V268I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCAGATCACCGTCCAGGAGTG	0.493																																						uc003tfp.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(802-804)GTC>ATC		ependymin related protein 1 precursor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	77.0	78.0	77.0		802	4.3	0.9	7		77	0,8600		0,0,4300	no	missense	EPDR1	NM_017549.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	268/345	37988614	1,13005	2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988614G>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.442G>A	7.37:g.37988614G>A	ENSP00000199448:p.Val148Ile					EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.V87I	p.V268I	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			2	821	+			148					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.802G>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647608	0.47258	2.27E-4	0.0	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	5.24	4.34	0.51931	.	0.128088	0.51477	D	0.000081	T	0.42177	0.1191	L	0.39397	1.21	0.80722	D	1	P;P	0.52692	0.65;0.955	B;B	0.41440	0.068;0.357	T	0.20472	-1.0274	9	0.23891	T	0.37	-23.7922	13.2514	0.60053	0.0797:0.0:0.9203:0.0	.	87;268	C9JYS3;A4D1W8	.;.	I	46;268;87	.	ENSP00000199448:V268I	V	+	1	0	EPDR1	37955139	1.000000	0.71417	0.950000	0.38849	0.320000	0.28249	7.807000	0.86032	2.729000	0.93468	0.655000	0.94253	GTC		0.493	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		7	85	0	0	0	0	7	85				
POM121	9883	broad.mit.edu	37	7	72418901	72418901	+	IGR	SNP	G	G	A	rs201837093		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:72418901G>A	ENST00000434423.2	+	0	3750				NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000395270.1_Silent_p.P964P|POM121_ENST00000446813.1_Silent_p.P964P			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AACACAGCCCGAGGAAGGGAC	0.488																																						uc010lam.1		NA																	0					0						c.(2890-2892)CCG>CCA		nuclear pore membrane protein 121		A		0,4396		0,0,2198	45.0	51.0	49.0			-0.4	0.0	7		49	1,8599	1.2+/-3.3	0,1,4299	no	near-gene-3				0,1,6497	AA,AG,GG		0.0116,0.0,0.0077			72418901	1,12995	2198	4300	6498	SO:0001628	intergenic_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72418901G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72418901G>A						NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_3'UTR|NSUN5P2_uc003twn.2_3'UTR|NSUN5P2_uc003two.2_3'UTR|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR	p.P964P	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			16	3933	+		Lung NSC(55;0.163)	1003			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2892G>A																																																																																					0.488	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			14	85	0	0	0	0	14	85				
ZNF777	27153	broad.mit.edu	37	7	149152729	149152729	+	Missense_Mutation	SNP	C	C	T	rs201615239	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:149152729C>T	ENST00000247930.4	-	2	708	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGAGTGAACGGGGGCTTCC	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		12825	0.0		0.002	False		,,,				2504	0.0					uc003wfv.2		NA																	0				skin(1)	1						c.(385-387)GTT>ATT		zinc finger protein 777							89.0	102.0	98.0					7																	149152729		1861	4093	5954	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152729C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.385G>A	7.37:g.149152729C>T	ENSP00000247930:p.Val129Ile						p.V129I	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	548	-	Melanoma(164;0.165)		129					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.385G>A	CCDS43675.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.332	-0.136544	0.06711	.	.	ENSG00000196453	ENST00000247930	T	0.04917	3.53	4.94	2.16	0.27623	.	0.185481	0.26307	N	0.025121	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.40572	-0.9556	10	0.52906	T	0.07	-16.5416	3.4549	0.07511	0.0948:0.1735:0.5599:0.1718	.	129	Q9ULD5-2	.	I	129	ENSP00000247930:V129I	ENSP00000247930:V129I	V	-	1	0	ZNF777	148783662	0.914000	0.31030	0.001000	0.08648	0.180000	0.23129	1.290000	0.33319	0.155000	0.19261	-1.474000	0.01003	GTT		0.617	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		23	174	0	0	0	0	23	174				
ZNF775	285971	broad.mit.edu	37	7	150094922	150094922	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:150094922C>T	ENST00000329630.5	+	3	1460	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C451C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAGTGCGGCAAGAGCT	0.731																																						uc003whf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)TGC>TGT		zinc finger protein 775							12.0	15.0	14.0					7																	150094922		2179	4280	6459	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094922C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1353C>T	7.37:g.150094922C>T						LOC728743_uc003whg.2_5'Flank	p.C451C	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1478	+	Ovarian(565;0.183)|Melanoma(164;0.226)		451			C2H2-type 9.		Q8IY24	Silent	SNP	ENST00000329630.5	37	c.1353C>T	CCDS43678.1																																																																																				0.731	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		5	14	0	0	0	0	5	14				
SLCO5A1	81796	broad.mit.edu	37	8	70585202	70585202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:70585202C>T	ENST00000260126.4	-	10	3155	c.2449G>A	c.(2449-2451)Gca>Aca	p.A817T	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A762T|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	817						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTCTGTGCTGCGCACTGGATC	0.617																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2449-2451)GCA>ACA		solute carrier organic anion transporter family,							71.0	71.0	71.0					8																	70585202		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585202C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2449G>A	8.37:g.70585202C>T	ENSP00000260126:p.Ala817Thr					SLCO5A1_uc010lzb.2_Missense_Mutation_p.A762T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.A817T	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	3156	-	Breast(64;0.0654)		817					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2449G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.474679	0.01044	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.38560	1.24;1.13	5.93	2.29	0.28610	.	0.632498	0.15538	N	0.257096	T	0.09949	0.0244	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35500	-0.9786	10	0.02654	T	1	.	5.7614	0.18203	0.1136:0.1873:0.0:0.6992	.	762;817	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	T	817;762	ENSP00000260126:A817T;ENSP00000431611:A762T	ENSP00000260126:A817T	A	-	1	0	SLCO5A1	70747756	0.736000	0.28164	0.016000	0.15963	0.427000	0.31564	-0.045000	0.12003	0.162000	0.19483	-0.768000	0.03414	GCA		0.617	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		11	79	0	0	0	0	11	79				
HNF4G	3174	broad.mit.edu	37	8	76471035	76471035	+	Splice_Site	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:76471035G>A	ENST00000354370.1	+	9	1015		c.e9-1		HNF4G_ENST00000396423.2_Splice_Site			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCTTTGTTAGATGCAAAAGG	0.353																																						uc003yaq.2		NA																	0				ovary(1)	1						c.e9-1		hepatocyte nuclear factor 4, gamma							52.0	51.0	51.0					8																	76471035		2203	4300	6503	SO:0001630	splice_region_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76471035G>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.746-1G>A	8.37:g.76471035G>A						HNF4G_uc003yar.2_Splice_Site_p.D286_splice	p.D249_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		9	1016	+	Breast(64;0.0448)							Q7Z2V9|Q9UH81|Q9UIS6	Splice_Site	SNP	ENST00000354370.1	37	c.746_splice		.	.	.	.	.	.	.	.	.	.	G	18.67	3.674678	0.67928	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6604	0.95864	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNF4G	76633590	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	9.807000	0.99171	2.648000	0.89879	0.655000	0.94253	.		0.353	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	Intron	13	28	0	0	0	0	13	28				
PLEC	5339	broad.mit.edu	37	8	144993755	144993755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:144993755C>T	ENST00000322810.4	-	32	10814	c.10645G>A	c.(10645-10647)Gcc>Acc	p.A3549T	PLEC_ENST00000354589.3_Missense_Mutation_p.A3412T|PLEC_ENST00000354958.2_Missense_Mutation_p.A3390T|PLEC_ENST00000436759.2_Missense_Mutation_p.A3439T|PLEC_ENST00000357649.2_Missense_Mutation_p.A3416T|PLEC_ENST00000398774.2_Missense_Mutation_p.A3380T|PLEC_ENST00000527096.1_Missense_Mutation_p.A3435T|PLEC_ENST00000356346.3_Missense_Mutation_p.A3398T|PLEC_ENST00000345136.3_Missense_Mutation_p.A3412T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3549	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTTCACGGCCTCGTGGACA	0.687																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10645-10647)GCC>ACC		plectin isoform 1							18.0	22.0	21.0					8																	144993755		1961	4133	6094	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993755C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10645G>A	8.37:g.144993755C>T	ENSP00000323856:p.Ala3549Thr					PLEC_uc003zab.1_Missense_Mutation_p.A3412T|PLEC_uc003zac.1_Missense_Mutation_p.A3416T|PLEC_uc003zad.2_Missense_Mutation_p.A3412T|PLEC_uc003zae.1_Missense_Mutation_p.A3380T|PLEC_uc003zag.1_Missense_Mutation_p.A3390T|PLEC_uc003zah.2_Missense_Mutation_p.A3398T|PLEC_uc003zaj.2_Missense_Mutation_p.A3439T	p.A3549T	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10815	-			3549			Plectin 13.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10645G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502056	0.26949	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.67	4.67	0.58626	.	0.000000	0.64402	U	0.000008	D	0.98937	0.9639	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.996;0.996;0.996;0.998;0.996;0.996;0.996;0.996	D	0.99537	1.0962	10	0.87932	D	0	.	17.3755	0.87391	0.0:1.0:0.0:0.0	.	3439;3398;3390;3549;3380;3412;3416;3412	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	3412;3416;3412;3380;3549;3390;3398;3439;3435	ENSP00000344848:A3412T;ENSP00000350277:A3416T;ENSP00000346602:A3412T;ENSP00000381756:A3380T;ENSP00000323856:A3549T;ENSP00000347044:A3390T;ENSP00000348702:A3398T;ENSP00000388180:A3439T;ENSP00000434583:A3435T	ENSP00000323856:A3549T	A	-	1	0	PLEC	145065743	1.000000	0.71417	0.921000	0.36526	0.011000	0.07611	5.867000	0.69597	2.416000	0.81992	0.448000	0.29417	GCC		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	38	0	0	0	0	13	38				
ZNF510	22869	broad.mit.edu	37	9	99521423	99521423	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:99521423C>T	ENST00000375231.1	-	6	2339	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF510_ENST00000223428.4_Silent_p.Q563Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTGAGTTTTCTGATGTTGAA	0.423																																						uc004awn.1		NA																	0					0						c.(1687-1689)CAG>CAA		zinc finger protein 510							94.0	95.0	95.0					9																	99521423		2203	4299	6502	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521423C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1689G>A	9.37:g.99521423C>T						ZNF510_uc004awo.1_Silent_p.Q563Q	p.Q563Q	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1878	-		Acute lymphoblastic leukemia(62;0.0527)	563			C2H2-type 7.		Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.1689G>A	CCDS35074.1																																																																																				0.423	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		9	120	0	0	0	0	9	120				
GOLGA2	2801	broad.mit.edu	37	9	131019939	131019939	+	Silent	SNP	G	G	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:131019939G>T	ENST00000421699.2	-	24	2590	c.2578C>A	c.(2578-2580)Cgg>Agg	p.R860R	GOLGA2_ENST00000609374.1_Silent_p.R848R|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	860					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCGGTGCCGCTCCTTCAGC	0.622																																						uc011maw.1		NA																	0				ovary(1)	1						c.(2578-2580)CGG>AGG		Golgi autoantigen, golgin subfamily a, 2							256.0	198.0	218.0					9																	131019939		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019939G>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2578C>A	9.37:g.131019939G>T						GOLGA2_uc010mxw.2_Silent_p.R183R|GOLGA2_uc004buh.2_Intron	p.R860R	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			24	2591	-			860			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2578C>A	CCDS6896.2																																																																																				0.622	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		19	202	1	0	1.34e-09	1.66e-09	19	202				
RAPGEF1	2889	broad.mit.edu	37	9	134458080	134458080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:134458080C>T	ENST00000372189.3	-	22	2989	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E974K|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E973K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	956	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCAGTACTCGGCCAGGCCC	0.657																																						uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(2866-2868)GAG>AAG		guanine nucleotide-releasing factor 2 isoform a							57.0	70.0	66.0					9																	134458080		2104	4214	6318	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134458080C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2866G>A	9.37:g.134458080C>T	ENSP00000361263:p.Glu956Lys					RAPGEF1_uc004cbb.2_Missense_Mutation_p.E974K	p.E956K	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	22	2996	-		Myeloproliferative disorder(178;0.204)	956			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.2866G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393626	0.96009	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.30714	1.52;1.52;1.52	4.93	4.93	0.64822	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.50311	-0.8843	10	0.49607	T	0.09	.	16.6966	0.85337	0.0:1.0:0.0:0.0	.	956;974	Q13905;Q13905-3	RPGF1_HUMAN;.	K	956;973;902;956;974;936;934;973	ENSP00000361269:E973K;ENSP00000361263:E956K;ENSP00000361264:E974K	ENSP00000266110:E956K	E	-	1	0	RAPGEF1	133447901	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	7.441000	0.80485	2.276000	0.75962	0.561000	0.74099	GAG		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		19	90	0	0	0	0	19	90				
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1393-1395)GCC>ACC		notch1 preproprotein							58.0	65.0	62.0					9																	139412252		2160	4236	6396	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412252C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1393G>A	9.37:g.139412252C>T	ENSP00000277541:p.Ala465Thr	HNSCC(8;0.001)					p.A465T	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1393	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	465			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1393G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434800	0.96150	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.81179	2.53	0.80722	D	1	D	0.61697	0.99	P	0.62813	0.907	D	0.96347	0.9255	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	465	P46531	NOTC1_HUMAN	T	465	ENSP00000277541:A465T	ENSP00000277541:A465T	A	-	1	0	NOTCH1	138532073	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	5.872000	0.69636	2.088000	0.63022	0.462000	0.41574	GCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		20	74	0	0	0	0	20	74				
P2RY10	27334	broad.mit.edu	37	X	78217018	78217018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:78217018G>C	ENST00000171757.2	+	4	1281	c.1001G>C	c.(1000-1002)gGt>gCt	p.G334A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G334A	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AAGGAGAGTGGTTCATCAATG	0.418																																						uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1000-1002)GGT>GCT		G-protein coupled purinergic receptor P2Y10							87.0	83.0	84.0					X																	78217018		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78217018G>C	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.1001G>C	X.37:g.78217018G>C	ENSP00000171757:p.Gly334Ala					P2RY10_uc004edf.2_Missense_Mutation_p.G334A	p.G334A	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1370	+			334			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.1001G>C	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163263	0.21538	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.64618	-0.11;-0.11	4.89	4.89	0.63831	.	0.793338	0.11196	N	0.589398	T	0.44891	0.1315	N	0.14661	0.345	0.31618	N	0.650619	B	0.06786	0.001	B	0.10450	0.005	T	0.41770	-0.9490	10	0.17832	T	0.49	.	12.2121	0.54386	0.0:0.1686:0.8314:0.0	.	334	O00398	P2Y10_HUMAN	A	334	ENSP00000443138:G334A;ENSP00000171757:G334A	ENSP00000171757:G334A	G	+	2	0	P2RY10	78103674	0.998000	0.40836	0.999000	0.59377	0.779000	0.44077	2.759000	0.47573	2.254000	0.74563	0.597000	0.82753	GGT		0.418	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			18	133	0	0	0	0	18	133				
UBE2J2	118424	broad.mit.edu	37	1	1191442	1191443	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:1191442_1191443delAT	ENST00000349431.6	-	6	696_697	c.477_478delAT	c.(475-480)ttatttfs	p.L159fs	UBE2J2_ENST00000347370.2_Frame_Shift_Del_p.L107fs|UBE2J2_ENST00000339385.6_Frame_Shift_Del_p.L124fs|UBE2J2_ENST00000400929.2_Frame_Shift_Del_p.L107fs|UBE2J2_ENST00000360466.2_Frame_Shift_Del_p.L159fs|UBE2J2_ENST00000348298.7_Frame_Shift_Del_p.L107fs|UBE2J2_ENST00000400930.4_Frame_Shift_Del_p.L175fs|UBE2J2_ENST00000491779.1_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	159					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACTTCAGGAAATAATTCACAAA	0.401																																						uc001adn.2		NA																	0					0						c.(475-480)TTATTTfs		ubiquitin conjugating enzyme E2, J2 isoform 3																																				SO:0001589	frameshift_variant	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1191442_1191443delAT	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.477_478delAT	1.37:g.1191442_1191443delAT	ENSP00000305826:p.Leu159fs					UBE2J2_uc001adm.2_Frame_Shift_Del_p.L124fs|UBE2J2_uc001ado.2_Frame_Shift_Del_p.L175fs|UBE2J2_uc001adp.2_Frame_Shift_Del_p.L159fs|UBE2J2_uc001adq.2_Frame_Shift_Del_p.L107fs|UBE2J2_uc001adr.2_Frame_Shift_Del_p.L107fs|UBE2J2_uc001ads.2_Frame_Shift_Del_p.L107fs	p.L159fs	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	6	787_788	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	159_160			Cytoplasmic (Potential).		A8MYC7|Q504T9|Q96N26|Q96T84	Frame_Shift_Del	DEL	ENST00000349431.6	37	c.477_478delAT	CCDS14.1																																																																																				0.401	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		16	100	NA	NA	NA	NA	16	100	---	---	---	---
ODF2L	57489	broad.mit.edu	37	1	86850380	86850382	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:86850380_86850382delAAG	ENST00000359242.3	-	4	630_632	c.349_351delCTT	c.(349-351)cttdel	p.L117del	ODF2L_ENST00000317336.7_In_Frame_Del_p.L117del|ODF2L_ENST00000294678.2_In_Frame_Del_p.L117del|ODF2L_ENST00000370567.1_In_Frame_Del_p.L117del|ODF2L_ENST00000370566.3_In_Frame_Del_p.L117del|ODF2L_ENST00000394731.1_5'UTR	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	117						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCTCTTTCTAAGAAGATGTTCT	0.286																																						uc001dll.1		NA																	0				ovary(1)	1						c.(349-351)CTTdel		outer dense fiber of sperm tails 2-like isoform																																				SO:0001651	inframe_deletion	57489					centrosome		g.chr1:86850380_86850382delAAG		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.349_351delCTT	1.37:g.86850383_86850385delAAG	ENSP00000359600:p.Leu117del					ODF2L_uc001dlm.1_In_Frame_Del_p.L117del|ODF2L_uc001dln.2_In_Frame_Del_p.L117del|ODF2L_uc001dlo.2_5'UTR|ODF2L_uc001dlp.2_In_Frame_Del_p.L117del|ODF2L_uc010osg.1_In_Frame_Del_p.L117del|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	p.L117del	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	4	689_691	-			117					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	In_Frame_Del	DEL	ENST00000359242.3	37	c.349_351delCTT	CCDS41354.2																																																																																				0.286	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			7	73	NA	NA	NA	NA	7	73	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26217656	26217656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:26217656delC	ENST00000405154.2	+	3	528	c.329delC	c.(328-330)gctfs	p.A110fs	RASSF8_ENST00000541490.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000542865.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000282884.9_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000381352.3_Frame_Shift_Del_p.A110fs	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	110					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CCCCCCTTAGCTAAACTGAGG	0.468																																						uc001rgx.2		NA																	0					0						c.(328-330)GCTfs		Ras association (RalGDS/AF-6) domain family							75.0	79.0	78.0					12																	26217656		2203	4300	6503	SO:0001589	frameshift_variant	11228				signal transduction			g.chr12:26217656delC	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.329delC	12.37:g.26217656delC	ENSP00000384491:p.Ala110fs					RASSF8_uc001rgy.2_Frame_Shift_Del_p.A110fs|RASSF8_uc001rgz.2_Frame_Shift_Del_p.A110fs|RASSF8_uc009zjd.1_Frame_Shift_Del_p.A110fs|RASSF8_uc009zje.1_Frame_Shift_Del_p.A110fs	p.A110fs	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	550	+	Colorectal(261;0.0847)		110					A8K1Z0|O95647|Q5SCI2|Q76KB6	Frame_Shift_Del	DEL	ENST00000405154.2	37	c.329delC	CCDS53765.1																																																																																				0.468	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		12	122	NA	NA	NA	NA	12	122	---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33820638	33820638	+	Frame_Shift_Del	DEL	G	G	-	rs368074142		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:33820638delG	ENST00000238823.8	-	2	260	c.120delC	c.(118-120)cccfs	p.P40fs	FAM98A_ENST00000403368.1_Frame_Shift_Del_p.P40fs|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	40							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGGTAAACTCGGGGGAACTGG	0.448																																						uc002rpa.1		NA																	0				ovary(1)	1						c.(118-120)CCCfs		hypothetical protein LOC25940							101.0	104.0	103.0					2																	33820638		2203	4300	6503	SO:0001589	frameshift_variant	25940							g.chr2:33820638delG		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.120delC	2.37:g.33820638delG	ENSP00000238823:p.Pro40fs					FAM98A_uc010yne.1_5'UTR	p.P40fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			2	194	-	all_hematologic(175;0.115)		40					B2RNA2|Q9Y3Y6	Frame_Shift_Del	DEL	ENST00000238823.8	37	c.120delC	CCDS33179.1																																																																																				0.448	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		10	105	NA	NA	NA	NA	10	105	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55221819	55221831	+	Frame_Shift_Del	DEL	GTGCCACCTGCGT	GTGCCACCTGCGT	-	rs149840192|rs570790705|rs150549265		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:55221819_55221831delGTGCCACCTGCGT	ENST00000275493.2	+	7	1040_1052	c.863_875delGTGCCACCTGCGT	c.(862-876)ggtgccacctgcgtgfs	p.GATCV288fs	EGFR_ENST00000344576.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000420316.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.GATCV243fs|EGFR_ENST00000442591.1_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.GATCV235fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.GATCV288fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	288			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289T(3)|p.A289D(3)|p.V292L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACAGCTTTGGTGCCACCTGCGTGAAGAAGTGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		27	Substitution - Missense(27)	p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)|p.V292L(1)	central_nervous_system(27)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(862-876)GGTGCCACCTGCGTGfs		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221819_55221831delGTGCCACCTGCGT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.863_875delGTGCCACCTGCGT	7.37:g.55221819_55221831delGTGCCACCTGCGT	ENSP00000275493:p.Gly288fs	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Frame_Shift_Del_p.G288fs|EGFR_uc003tqi.2_Frame_Shift_Del_p.G288fs|EGFR_uc003tqj.2_Frame_Shift_Del_p.G288fs|EGFR_uc010kzg.1_Frame_Shift_Del_p.G243fs|EGFR_uc011kco.1_Frame_Shift_Del_p.G235fs|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.G288fs	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1109_1121	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		288_292			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Del	DEL	ENST00000275493.2	37	c.863_875delGTGCCACCTGCGT	CCDS5514.1																																																																																				0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		8	318	NA	NA	NA	NA	8	318	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e36-1		fibrocystin L precursor																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)					p.G1465_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4498	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37	c.4394_splice	CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	9	119	NA	NA	NA	NA	9	119	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139824126	139824127	+	In_Frame_Ins	INS	-	-	GGTGGA	rs548885226	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:139824126_139824127insGGTGGA	ENST00000303045.6	-	9	1810_1811	c.1364_1365insTCCACC	c.(1363-1365)ccc>ccTCCACCc	p.455_455P>PPP	COL22A1_ENST00000435777.1_In_Frame_Ins_p.455_455P>PPP	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	455	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTGGGGTGGGGGTGGAGGTGG	0.599										HNSCC(7;0.00092)				22	0.00439297	0.0008	0.013	5008	,	,		8677	0.0		0.0119	False		,,,				2504	0.0					uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1363-1365)CCC>CCTCCACCC		collagen, type XXII, alpha 1				10,4142		2,6,2068						-2.7	0.0			16	104,7944		5,94,3925	no	coding	COL22A1	NM_152888.1		7,100,5993	A1A1,A1R,RR		1.2922,0.2408,0.9344				114,12086				SO:0001652	inframe_insertion	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824126_139824127insGGTGGA	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1359_1364dupTCCACC	8.37:g.139824127_139824132dupGGTGGA	ENSP00000303153:p.ProPro457dup	HNSCC(7;0.00092)					p.455_455P>PPP	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1811_1812	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		455			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	In_Frame_Ins	INS	ENST00000303045.6	37	c.1364_1365insTCCACC	CCDS6376.1																																																																																				0.599	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	6	NA	NA	NA	NA	3	6	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54263432	54263434	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:54263432_54263434delCAC	ENST00000375159.2	-	19	4564_4566	c.4565_4567delGTG	c.(4564-4569)agtgat>aat	p.1522_1523SD>N	WNK3_ENST00000375169.3_In_Frame_Del_p.1475_1476SD>N|WNK3_ENST00000354646.2_In_Frame_Del_p.1522_1523SD>N			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1522					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATTCATCATCACTGCTCATTGG	0.433																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(4423-4428)AGTGAT>AAT		WNK lysine deficient protein kinase 3 isoform 2																																				SO:0001651	inframe_deletion	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54263432_54263434delCAC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4565_4567delGTG	X.37:g.54263432_54263434delCAC	ENSP00000364301:p.Ser1522_Asp1523delinsAsn					WNK3_uc004dtc.1_In_Frame_Del_p.1522_1523SD>N	p.1475_1476SD>N	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			20	4863_4865	-			1475_1476					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	In_Frame_Del	DEL	ENST00000375159.2	37	c.4424_4426delGTG	CCDS14357.1																																																																																				0.433	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		34	240	NA	NA	NA	NA	34	240	---	---	---	---
