#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ASB17	127247	broad.mit.edu	37	1	76397748	76397748	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr1:76397748A>T	ENST00000284142.6	-	1	368	c.229T>A	c.(229-231)Tca>Aca	p.S77T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	77					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.S77T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CGGTATCCTGATTTTTCCACA	0.383																																							uc001dhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)TCA>ACA		ankyrin repeat and SOCS box-containing 17							133.0	122.0	126.0					1																	76397748		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397748A>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.229T>A	1.37:g.76397748A>T	ENSP00000284142:p.Ser77Thr					ASB17_uc001dhf.1_RNA	p.S77T	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	369	-			77					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.229T>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544126	0.45280	.	.	ENSG00000154007	ENST00000284142	T	0.34275	1.37	6.08	4.9	0.64082	.	0.154637	0.30630	N	0.009204	T	0.09686	0.0238	N	0.14661	0.345	0.32052	N	0.596789	B	0.15141	0.012	B	0.12837	0.008	T	0.08743	-1.0707	10	0.41790	T	0.15	.	8.9309	0.35670	0.8347:0.0:0.0:0.1653	.	77	Q8WXJ9	ASB17_HUMAN	T	77	ENSP00000284142:S77T	ENSP00000284142:S77T	S	-	1	0	ASB17	76170336	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.538000	0.36094	2.330000	0.79161	0.533000	0.62120	TCA		0.383	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		27	71	0	0	0	0.003954	0	27	71				
LYST	1130	broad.mit.edu	37	1	235950598	235950598	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr1:235950598G>A	ENST00000389794.3	-	14	4938	c.4764C>T	c.(4762-4764)ctC>ctT	p.L1588L	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.L1588L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1588					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L1588L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTGCTTGGGAGGAAAATAT	0.423																																							uc001hxj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4762-4764)CTC>CTT		lysosomal trafficking regulator							204.0	200.0	201.0					1																	235950598		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950598G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4764C>T	1.37:g.235950598G>A						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.L1588L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4939	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1588			WD 2.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4764C>T	CCDS31062.1																																																																																				0.423	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			45	148	0	0	0	0.013114	0	45	148				
SFMBT2	57713	broad.mit.edu	37	10	7409719	7409719	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr10:7409719C>T	ENST00000361972.4	-	4	418	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	SFMBT2_ENST00000397160.3_Missense_Mutation_p.G110S|SFMBT2_ENST00000379711.2_Missense_Mutation_p.G110S|SFMBT2_ENST00000397167.1_Missense_Mutation_p.G110S|SFMBT2_ENST00000379713.3_Missense_Mutation_p.G110S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	110					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.G110S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCCCGTAACCGCAGTAGCGC	0.572																																							uc009xio.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(328-330)GGT>AGT		Scm-like with four mbt domains 2							82.0	78.0	80.0					10																	7409719		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409719C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.328G>A	10.37:g.7409719C>T	ENSP00000355109:p.Gly110Ser					SFMBT2_uc001ijn.1_Missense_Mutation_p.G110S|SFMBT2_uc010qay.1_Missense_Mutation_p.G110S|SFMBT2_uc001ijo.1_Missense_Mutation_p.G110S	p.G110S	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	419	-			110			MBT 1.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.328G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466604	0.96257	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.55930	0.49;0.49;0.49;1.15;1.15	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80054	-0.1543	10	0.72032	D	0.01	.	17.8186	0.88643	0.0:1.0:0.0:0.0	.	110;110	Q5T981;Q5VUG0	.;SMBT2_HUMAN	S	110	ENSP00000355109:G110S;ENSP00000380353:G110S;ENSP00000369035:G110S;ENSP00000369033:G110S;ENSP00000380346:G110S	ENSP00000355109:G110S	G	-	1	0	SFMBT2	7449725	1.000000	0.71417	0.962000	0.40283	0.966000	0.64601	7.637000	0.83313	2.371000	0.80710	0.305000	0.20034	GGT		0.572	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		4	25	0	0	0	0.009096	0	4	25				
LOXL4	84171	broad.mit.edu	37	10	100011426	100011426	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr10:100011426C>G	ENST00000260702.3	-	13	2135	c.1985G>C	c.(1984-1986)gGa>gCa	p.G662A	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	662	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.G662A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TCCCTGTTCTCCAAAGTTGGC	0.527																																							uc001kpa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1984-1986)GGA>GCA		lysyl oxidase-like 4 precursor							93.0	78.0	83.0					10																	100011426		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100011426C>G	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1985G>C	10.37:g.100011426C>G	ENSP00000260702:p.Gly662Ala						p.G662A	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	13	2136	-		Colorectal(252;0.234)	662			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1985G>C	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716703	0.89205	.	.	ENSG00000138131	ENST00000260702	T	0.38240	1.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.92649	3.33	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	T	0.76473	-0.2946	10	0.62326	D	0.03	.	17.5752	0.87946	0.0:1.0:0.0:0.0	.	662	Q96JB6	LOXL4_HUMAN	A	662	ENSP00000260702:G662A	ENSP00000260702:G662A	G	-	2	0	LOXL4	100001416	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.759000	0.85235	2.412000	0.81896	0.655000	0.94253	GGA		0.527	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		3	56	0	0	0	0.004672	0	3	56				
DCDC1	341019	broad.mit.edu	37	11	31312327	31312327	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr11:31312327C>T	ENST00000452803.1	-	7	1028	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	DCDC1_ENST00000597505.1_Missense_Mutation_p.R276Q	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	276					intracellular signal transduction (GO:0035556)			p.R276Q(1)|p.R276L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTGGTTTTCCGTCTTTTGAT	0.378																																							uc001msv.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(826-828)CGG>CAG		doublecortin domain containing 1							92.0	91.0	92.0					11																	31312327		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312327C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.827G>A	11.37:g.31312327C>T	ENSP00000389792:p.Arg276Gln					DCDC1_uc001msu.1_Intron	p.R276Q	NM_181807	NP_861523	P59894	DCDC1_HUMAN			7	1029	-	Lung SC(675;0.225)		276					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.827G>A	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	9.049	0.991631	0.18966	.	.	ENSG00000188682	ENST00000452803	T	0.31510	1.49	5.36	-5.26	0.02772	.	0.731524	0.11624	N	0.545494	T	0.12603	0.0306	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28964	-1.0027	10	0.19147	T	0.46	-2.0528	14.2039	0.65721	0.0:0.2993:0.0:0.7007	.	276	P59894	DCDC1_HUMAN	Q	276	ENSP00000389792:R276Q	ENSP00000389792:R276Q	R	-	2	0	DCDC1	31268903	0.252000	0.23972	0.335000	0.25508	0.983000	0.72400	-0.577000	0.05847	-1.642000	0.01521	-0.137000	0.14449	CGG		0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		9	73	0	0	0	0.006214	0	9	73				
DAGLA	747	broad.mit.edu	37	11	61508792	61508792	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr11:61508792G>A	ENST00000257215.5	+	19	2258	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	714					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P714P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGGAGCTGCCGACTGCAGACC	0.642																																							uc001nsa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2140-2142)CCG>CCA		neural stem cell-derived dendrite regulator							43.0	38.0	40.0					11																	61508792		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61508792G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2142G>A	11.37:g.61508792G>A							p.P714P	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2253	+			714			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2142G>A	CCDS31578.1																																																																																				0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		9	30	0	0	0	0.008291	0	9	30				
FKBP2	2286	broad.mit.edu	37	11	64011314	64011314	+	Splice_Site	SNP	G	G	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr11:64011314G>T	ENST00000394540.3	+	5	803	c.333G>T	c.(331-333)ggG>ggT	p.G111G	FKBP2_ENST00000449942.2_Splice_Site_p.G111G|RP11-783K16.5_ENST00000544553.1_RNA|FKBP2_ENST00000309366.4_Splice_Site_p.G111G	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	111	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G111G(1)		endometrium(2)|lung(3)	5						CTTCAACAGGGTATGGAGAGC	0.562																																							uc001nyy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(331-333)GGG>GGT		FK506 binding protein 2, 13kDa precursor							123.0	122.0	122.0					11																	64011314		2201	4297	6498	SO:0001630	splice_region_variant	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64011314G>T	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.332-1G>T	11.37:g.64011314G>T						FKBP2_uc010rnh.1_Silent_p.G111G|FKBP2_uc001nyz.2_Silent_p.G111G	p.G111G	NM_004470	NP_004461	P26885	FKBP2_HUMAN			5	529	+			111			PPIase FKBP-type.		Q5BJH9|Q9BTS7	Silent	SNP	ENST00000394540.3	37	c.333G>T	CCDS8063.1																																																																																				0.562	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2	NM_004470	Silent	32	134	1	0	3.86903e-22	0.013726	5.40436e-22	32	134				
NRXN2	9379	broad.mit.edu	37	11	64434911	64434911	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr11:64434911G>A	ENST00000377551.1	-	8	1820	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	NRXN2_ENST00000265459.6_Missense_Mutation_p.R537W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R506W|NRXN2_ENST00000409571.1_Missense_Mutation_p.R530W			Q9P2S2	NRX2A_HUMAN	neurexin 2	537	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.R537W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCCCAGCCCGCCGGCCCTGG	0.657																																							uc001oar.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1609-1611)CGG>TGG		neurexin 2 isoform alpha-1 precursor							41.0	45.0	44.0					11																	64434911		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64434911G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1609C>T	11.37:g.64434911G>A	ENSP00000366774:p.Arg537Trp					NRXN2_uc001oas.2_Missense_Mutation_p.R506W|NRXN2_uc001oaq.2_Missense_Mutation_p.R204W	p.R537W	NM_015080	NP_055895	P58401	NRX2B_HUMAN			10	2048	-			128			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1609C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676437	0.67928	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.63	2.65	0.31530	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.445392	0.14837	U	0.295538	T	0.75831	0.3903	L	0.32530	0.975	0.31276	N	0.691207	D;D;D	0.61080	0.987;0.989;0.961	P;P;B	0.57776	0.827;0.773;0.443	T	0.74124	-0.3766	10	0.87932	D	0	.	7.0995	0.25330	0.0966:0.0:0.7294:0.1741	.	506;537;283	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	W	537;506;537;506;530	ENSP00000366774:R537W;ENSP00000366782:R506W;ENSP00000265459:R537W;ENSP00000386416:R530W	ENSP00000265459:R537W	R	-	1	2	NRXN2	64191487	0.931000	0.31567	0.999000	0.59377	0.688000	0.40055	1.565000	0.36386	2.392000	0.81423	0.462000	0.41574	CGG		0.657	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	69	0	0	0	0.010729	0	11	69				
BBS10	79738	broad.mit.edu	37	12	76740459	76740459	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr12:76740459T>C	ENST00000393262.3	-	2	1389	c.1306A>G	c.(1306-1308)Acc>Gcc	p.T436A		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	436					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.T436A(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGGTCATTGGTTTGTGTCATG	0.368									Bardet-Biedl syndrome																														uc001syd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1306-1308)ACC>GCC		Bardet-Biedl syndrome 10							90.0	94.0	93.0					12																	76740459		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740459T>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1306A>G	12.37:g.76740459T>C	ENSP00000376946:p.Thr436Ala						p.T436A	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	1390	-			436					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1306A>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.945816	0.00475	.	.	ENSG00000179941	ENST00000393262	D	0.85088	-1.94	5.11	-6.48	0.01896	.	1.046770	0.07538	N	0.913287	T	0.68026	0.2956	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61549	-0.7040	10	0.02654	T	1	6.3518	15.1504	0.72692	0.0:0.3034:0.0:0.6966	.	436	Q8TAM1	BBS10_HUMAN	A	436	ENSP00000376946:T436A	ENSP00000376946:T436A	T	-	1	0	BBS10	75264590	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.080000	0.01368	-1.322000	0.02278	-1.151000	0.01829	ACC		0.368	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		3	166	0	0	0	0.004672	0	3	166				
ST8SIA2	8128	broad.mit.edu	37	15	92981770	92981770	+	Missense_Mutation	SNP	G	G	A	rs181334978		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr15:92981770G>A	ENST00000268164.3	+	4	715	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V139M	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	160					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.V160M(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TTGTGCCATCGTGGGCAACTC	0.582																																							uc002bra.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GTG>ATG		ST8 alpha-N-acetyl-neuraminide		G	MET/VAL	0,4396		0,0,2198	71.0	65.0	67.0		478	5.0	1.0	15		67	1,8595	1.2+/-3.3	0,1,4297	no	missense	ST8SIA2	NM_006011.3	21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	160/376	92981770	1,12991	2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981770G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.478G>A	15.37:g.92981770G>A	ENSP00000268164:p.Val160Met					ST8SIA2_uc002brb.2_Missense_Mutation_p.V139M	p.V160M	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	633	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		160			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.478G>A	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620682	0.87460	0.0	1.16E-4	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.61040	0.14;0.14;0.14	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.89133	0.3511	10	0.87932	D	0	-3.6014	18.3792	0.90444	0.0:0.0:1.0:0.0	.	139;160	C6G488;Q92186	.;SIA8B_HUMAN	M	160;139;117	ENSP00000268164:V160M;ENSP00000437382:V139M;ENSP00000450851:V117M	ENSP00000268164:V160M	V	+	1	0	ST8SIA2	90782774	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.182000	0.94881	2.332000	0.79248	0.563000	0.77884	GTG		0.582	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		4	64	0	0	0	0.009096	0	4	64				
GRIN2A	2903	broad.mit.edu	37	16	9857312	9857312	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:9857312G>A	ENST00000396573.2	-	14	4398	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.S1363S|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1363					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1363S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGGTTATCGGAGGTGTGGT	0.557																																							uc002czo.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4087-4089)TCC>TCT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						72.0	68.0	69.0					16																	9857312		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857312G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4089C>T	16.37:g.9857312G>A						GRIN2A_uc010uym.1_Silent_p.S1363S|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	p.S1363S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4637	-			1363			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.4089C>T	CCDS10539.1																																																																																				0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			19	81	0	0	0	0.007413	0	19	81				
TEKT5	146279	broad.mit.edu	37	16	10788536	10788536	+	Silent	SNP	C	C	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:10788536C>A	ENST00000283025.2	-	1	266	c.195G>T	c.(193-195)ccG>ccT	p.P65P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	65						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.P65P(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCTCTCGTCCGGGCAGGTCT	0.612																																							uc002czz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(193-195)CCG>CCT		tektin 5							86.0	97.0	93.0					16																	10788536		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788536C>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.195G>T	16.37:g.10788536C>A							p.P65P	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	267	-			65					A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.195G>T	CCDS10542.1																																																																																				0.612	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		21	91	1	0	1.96895e-08	0.00278	2.62526e-08	21	91				
SALL1	6299	broad.mit.edu	37	16	51171227	51171227	+	Silent	SNP	G	G	A	rs145423593	byFrequency	TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:51171227G>A	ENST00000251020.4	-	3	3804	c.3771C>T	c.(3769-3771)aaC>aaT	p.N1257N	SALL1_ENST00000440970.1_Silent_p.N1160N|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.N80N	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1257					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N1257N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGATGCCACCGTTCTGAATGA	0.577																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(3769-3771)AAC>AAT		sal-like 1 isoform a		G	,	1,4395	2.1+/-5.4	0,1,2197	86.0	77.0	80.0		3480,3771	-11.1	0.3	16	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	1160/1228,1257/1325	51171227	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171227G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3771C>T	16.37:g.51171227G>A						SALL1_uc010vgr.1_Silent_p.N1160N|SALL1_uc010cbv.2_Silent_p.N109N	p.N1257N	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3802	-		all_cancers(37;0.0322)	1257					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3771C>T	CCDS10747.1																																																																																				0.577	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	87	0	0	0	0.00308	0	6	87				
SALL1	6299	broad.mit.edu	37	16	51173150	51173150	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:51173150G>A	ENST00000251020.4	-	2	3016	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	SALL1_ENST00000440970.1_Missense_Mutation_p.R898W|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	995					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R995W(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATTTACCCCGGTCTCTAAAA	0.433																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(3)	8						c.(2983-2985)CGG>TGG		sal-like 1 isoform a							50.0	52.0	51.0					16																	51173150		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173150G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2983C>T	16.37:g.51173150G>A	ENSP00000251020:p.Arg995Trp					SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron	p.R995W	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3014	-		all_cancers(37;0.0322)	995					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2983C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193867	0.58017	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09350	3.0;2.99	5.6	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01102	-1.1451	10	0.72032	D	0.01	.	13.8215	0.63322	0.0:0.0:0.6655:0.3345	.	995	Q9NSC2	SALL1_HUMAN	W	995;898;959	ENSP00000251020:R995W;ENSP00000407914:R898W	ENSP00000251020:R995W	R	-	1	2	SALL1	49730651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.411000	0.66386	1.333000	0.45449	0.557000	0.71058	CGG		0.433	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	85	0	0	0	0.001168	0	6	85				
ESRP2	80004	broad.mit.edu	37	16	68266596	68266596	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:68266596G>A	ENST00000565858.1	-	7	821	c.735C>T	c.(733-735)ccC>ccT	p.P245P	ESRP2_ENST00000473183.2_Intron	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	245					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TGCTGCTGTAGGGGCAGGGCA	0.587																																							uc010cfa.1		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.(733-735)CCC>CCT		RNA binding motif protein 35B							134.0	121.0	125.0					16																	68266596		2198	4300	6498	SO:0001819	synonymous_variant	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68266596G>A	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.735C>T	16.37:g.68266596G>A						ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Intron	p.P245P	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			7	923	-			245					Q8N6H8|Q8WZ15|Q9H6I4	Silent	SNP	ENST00000565858.1	37	c.735C>T																																																																																					0.587	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		24	113	0	0	0	0.00278	0	24	113				
CNTNAP4	85445	broad.mit.edu	37	16	76486488	76486488	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:76486488C>A	ENST00000476707.1	+	7	1303	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D336E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D312E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D384E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	385					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.D384E(1)|p.D312E(1)|p.D360E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CACTGCCAGACTTCTCTGGAG	0.438																																							uc002feu.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1153-1155)GAC>GAA		cell recognition protein CASPR4 isoform 1							100.0	99.0	100.0					16																	76486488		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486488C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1164C>A	16.37:g.76486488C>A	ENSP00000417628:p.Asp388Glu					CNTNAP4_uc002fev.1_Missense_Mutation_p.D249E|CNTNAP4_uc010chb.1_Missense_Mutation_p.D312E|CNTNAP4_uc002fex.1_Missense_Mutation_p.D388E|CNTNAP4_uc002few.2_Missense_Mutation_p.D360E	p.D385E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			10	1540	+			385			Extracellular (Potential).		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1155C>A		.	.	.	.	.	.	.	.	.	.	C	7.614	0.675424	0.14841	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.52	0.0948	0.14482	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.355250	0.20258	N	0.095939	T	0.60932	0.2307	.	.	.	0.09310	N	1	B;B;B;B	0.14012	0.004;0.001;0.004;0.009	B;B;B;B	0.16722	0.016;0.01;0.003;0.015	T	0.53056	-0.8492	9	0.87932	D	0	.	0.836	0.01140	0.3193:0.2817:0.2082:0.1908	.	312;388;360;385	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	384;336;312;388	ENSP00000306893:D384E;ENSP00000439733:D336E;ENSP00000418741:D312E;ENSP00000417628:D388E	ENSP00000306893:D384E	D	+	3	2	CNTNAP4	75043989	0.000000	0.05858	0.005000	0.12908	0.307000	0.27823	-0.435000	0.06931	-0.076000	0.12775	-0.140000	0.14226	GAC		0.438	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		11	155	1	0	3.86212e-05	0.008291	4.65571e-05	11	155				
ADAMTS18	170692	broad.mit.edu	37	16	77398246	77398246	+	Missense_Mutation	SNP	G	G	C	rs533765867		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr16:77398246G>C	ENST00000282849.5	-	5	1229	c.811C>G	c.(811-813)Cta>Gta	p.L271V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	271					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L271V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCAAACCTTAGATAGGTGTCC	0.468																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(811-813)CTA>GTA		ADAM metallopeptidase with thrombospondin type 1							64.0	62.0	63.0					16																	77398246		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77398246G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.811C>G	16.37:g.77398246G>C	ENSP00000282849:p.Leu271Val					ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	p.L271V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			5	1230	-			271					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.811C>G	CCDS10926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.020|8.020	0.759392|0.759392	0.15846|0.15846	.|.	.|.	ENSG00000140873|ENSG00000140873	ENST00000282849|ENST00000449265	T|T	0.59502|0.12465	0.26|2.68	5.17|5.17	1.98|1.98	0.26296|0.26296	.|.	0.251738|.	0.32852|.	N|.	0.005578|.	T|T	0.09291|0.09291	0.0229|0.0229	N|N	0.16743|0.16743	0.435|0.435	0.30622|0.30622	N|N	0.758383|0.758383	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.18871|0.18871	-1.0323|-1.0323	10|7	0.13470|0.87932	T|D	0.59|0	.|.	4.1815|4.1815	0.10378|0.10378	0.0884:0.3937:0.3699:0.148|0.0884:0.3937:0.3699:0.148	.|.	271|.	Q8TE60|.	ATS18_HUMAN|.	V|C	271|272	ENSP00000282849:L271V|ENSP00000392540:S272C	ENSP00000282849:L271V|ENSP00000392540:S272C	L|S	-|-	1|2	2|0	ADAMTS18|ADAMTS18	75955747|75955747	0.881000|0.881000	0.30235|0.30235	0.922000|0.922000	0.36590|0.36590	0.996000|0.996000	0.88848|0.88848	0.632000|0.632000	0.24583|0.24583	0.751000|0.751000	0.32900|0.32900	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	78	0	0	0	0.009096	0	4	78				
OR1E1	8387	broad.mit.edu	37	17	3301440	3301440	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr17:3301440C>T	ENST00000322608.2	-	1	264	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	89					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D89N(1)		endometrium(3)|large_intestine(2)|lung(5)	10						ATGGATGGGTCCTGGTTCTGC	0.507																																							uc002fvj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAC>AAC		olfactory receptor, family 1, subfamily E,							138.0	118.0	125.0					17																	3301440		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301440C>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.265G>A	17.37:g.3301440C>T	ENSP00000313384:p.Asp89Asn						p.D89N	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	265	-			89			Extracellular (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.265G>A	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.179384	0.01633	.	.	ENSG00000180016	ENST00000322608	T	0.01981	4.52	4.41	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	1.282280	0.05124	N	0.491225	T	0.01940	0.0061	N	0.13371	0.34	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35276	-0.9795	10	0.23302	T	0.38	.	7.8241	0.29305	0.0:0.8328:0.0:0.1672	.	89	P30953	OR1E1_HUMAN	N	89	ENSP00000313384:D89N	ENSP00000313384:D89N	D	-	1	0	OR1E1	3248190	0.000000	0.05858	0.674000	0.29902	0.014000	0.08584	-1.040000	0.03546	2.287000	0.76781	0.655000	0.94253	GAC		0.507	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		7	46	0	0	0	0.00308	0	7	46				
DYNLL2	140735	broad.mit.edu	37	17	56166633	56166633	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr17:56166633C>T	ENST00000579991.2	+	3	541	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	88					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|synaptic target recognition (GO:0008039)|transport (GO:0006810)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)|myosin complex (GO:0016459)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)	p.S88L(1)		lung(3)	3						CTCTTCAAGTCAGGCTAGGTG	0.532																																							uc010wnn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(262-264)TCA>TTA		dynein, light chain, LC8-type 2							121.0	127.0	125.0					17																	56166633		2203	4300	6503	SO:0001583	missense	140735				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity	g.chr17:56166633C>T	AF112997	CCDS11601.1	17q23.2	2009-11-18				ENSG00000264364		"""Cytoplasmic dyneins"""	24596	protein-coding gene	gene with protein product	"""radial spoke 22 homolog (Chlamydomonas)"""	608942				16260502	Standard	NM_080677		Approved	MGC17810, Dlc2, DNCL1B, RSPH22	uc010wnn.1	Q96FJ2		ENST00000579991.2:c.263C>T	17.37:g.56166633C>T	ENSP00000477310:p.Ser88Leu						p.S88L	NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN			3	537	+			88					B2R5B4	Missense_Mutation	SNP	ENST00000579991.2	37	c.263C>T	CCDS11601.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.780791	0.90195	.	.	ENSG00000121083	ENST00000240343	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	.	.	.	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.83898	0.0288	8	0.87932	D	0	.	18.9191	0.92518	0.0:1.0:0.0:0.0	.	88	Q96FJ2	DYL2_HUMAN	L	88	.	ENSP00000240343:S88L	S	+	2	0	DYNLL2	53521632	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.395000	0.79876	2.778000	0.95560	0.655000	0.94253	TCA		0.532	DYNLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443338.2	NM_080677		6	68	0	0	0	0.001168	0	6	68				
SDK2	54549	broad.mit.edu	37	17	71346817	71346817	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr17:71346817G>T	ENST00000392650.3	-	42	5871	c.5871C>A	c.(5869-5871)agC>agA	p.S1957R	SDK2_ENST00000388726.3_Missense_Mutation_p.S1938R|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1957					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S1957R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGTACTTCTTGCTCTGGCCCC	0.547																																							uc010dfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5869-5871)AGC>AGA		sidekick 2							106.0	97.0	100.0					17																	71346817		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71346817G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5871C>A	17.37:g.71346817G>T	ENSP00000376421:p.Ser1957Arg					SDK2_uc002jjt.3_Missense_Mutation_p.S1097R	p.S1957R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			42	5871	-			1957			Cytoplasmic (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5871C>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045922	0.75846	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61158	0.13;0.14;1.46	5.35	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.61218	1.895	0.52501	D	0.999954	P;P	0.50943	0.79;0.94	B;P	0.46452	0.318;0.517	T	0.66424	-0.5927	10	0.72032	D	0.01	.	14.0471	0.64712	0.0728:0.0:0.9272:0.0	.	1957;1938	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	R	1581;1957;1938;1114;1957;298	ENSP00000376421:S1957R;ENSP00000373378:S1938R;ENSP00000407098:S1114R	ENSP00000324967:S1957R	S	-	3	2	SDK2	68858412	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.701000	0.61810	1.260000	0.44134	-0.140000	0.14226	AGC		0.547	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		11	48	1	0	2.80697e-09	0.010729	3.80021e-09	11	48				
MAP2K7	5609	broad.mit.edu	37	19	7975197	7975197	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr19:7975197G>A	ENST00000397979.3	+	4	440	c.386G>A	c.(385-387)gGc>gAc	p.G129D	MAP2K7_ENST00000397981.3_Missense_Mutation_p.G129D|MAP2K7_ENST00000545011.1_Missense_Mutation_p.G171D|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G145D	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.G129D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ATGGGCAGCGGCACCTGCGGC	0.672																																							uc002mit.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(385-387)GGC>GAC		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						32.0	39.0	37.0					19																	7975197		2044	4179	6223	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975197G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.386G>A	19.37:g.7975197G>A	ENSP00000381066:p.Gly129Asp					MAP2K7_uc002miv.2_Missense_Mutation_p.G129D|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G129D|MAP2K7_uc010dvv.2_Missense_Mutation_p.G4D	p.G129D	NM_145185	NP_660186	O14733	MP2K7_HUMAN			4	451	+			129			Protein kinase.|ATP (By similarity).		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.386G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122216	0.94429	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.31	5.31	0.75309	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	0.85682	D	0.000000	D	0.99086	0.9686	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98897	1.0775	10	0.87932	D	0	-11.5741	16.4609	0.84044	0.0:0.0:1.0:0.0	.	129;129	O14733-4;O14733	.;MP2K7_HUMAN	D	129;145;171;145;129	ENSP00000381068:G129D;ENSP00000381070:G145D;ENSP00000443946:G171D;ENSP00000381066:G129D	ENSP00000381066:G129D	G	+	2	0	MAP2K7	7881197	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	7.565000	0.82337	2.502000	0.84385	0.561000	0.74099	GGC		0.672	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	18	0	0	0	0.009096	0	3	18				
EPS15L1	58513	broad.mit.edu	37	19	16548580	16548580	+	Splice_Site	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr19:16548580C>T	ENST00000248070.6	-	5	449		c.e5+1		EPS15L1_ENST00000455140.2_Splice_Site|EPS15L1_ENST00000535753.2_Splice_Site|EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000594975.1_Splice_Site|EPS15L1_ENST00000597937.1_Splice_Site	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1						endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGGACACTCACAAATTTAGGC	0.443																																							uc002ndz.1		NA																	1	Unknown(1)		lung(1)	ovary(3)|skin(2)	5						c.e5+1		epidermal growth factor receptor pathway							113.0	99.0	104.0					19																	16548580		2203	4300	6503	SO:0001630	splice_region_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16548580C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.309+1G>A	19.37:g.16548580C>T						EPS15L1_uc002ndx.2_Splice_Site_p.F103_splice|EPS15L1_uc002ndy.2_Splice_Site|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc010xpf.1_Splice_Site_p.F6_splice|EPS15L1_uc002nea.1_Splice_Site_p.F103_splice|EPS15L1_uc010eah.1_Splice_Site_p.F103_splice|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Splice_Site_p.F103_splice	p.F103_splice	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			5	315	-								A2RRF3|A5PL29|B4DKA3	Splice_Site	SNP	ENST00000248070.6	37	c.309_splice	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066057	0.55539	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3571	0.87340	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15L1	16409580	1.000000	0.71417	0.982000	0.44146	0.331000	0.28603	7.641000	0.83368	2.342000	0.79632	0.561000	0.74099	.		0.443	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	Intron	13	57	0	0	0	0.003163	0	13	57				
GPATCH1	55094	broad.mit.edu	37	19	33584407	33584407	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr19:33584407A>G	ENST00000170564.2	+	4	751	c.437A>G	c.(436-438)gAc>gGc	p.D146G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	146					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D146G(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTCCTTGATGACCTCATAACG	0.478																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(436-438)GAC>GGC		G patch domain containing 1							151.0	137.0	141.0					19																	33584407		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33584407A>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.437A>G	19.37:g.33584407A>G	ENSP00000170564:p.Asp146Gly						p.D146G	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			4	751	+	Esophageal squamous(110;0.137)		146					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.437A>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125705	0.37533	.	.	ENSG00000076650	ENST00000170564	T	0.28895	1.59	5.39	5.39	0.77823	.	0.046252	0.85682	D	0.000000	T	0.22898	0.0553	N	0.19112	0.55	0.80722	D	1	B	0.33583	0.418	B	0.34590	0.186	T	0.05954	-1.0854	10	0.38643	T	0.18	-21.8519	14.6042	0.68466	1.0:0.0:0.0:0.0	.	146	Q9BRR8	GPTC1_HUMAN	G	146	ENSP00000170564:D146G	ENSP00000170564:D146G	D	+	2	0	GPATCH1	38276247	1.000000	0.71417	0.992000	0.48379	0.181000	0.23173	7.880000	0.87243	2.054000	0.61138	0.455000	0.32223	GAC		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	166	0	0	0	0.009096	0	3	166				
HRC	3270	broad.mit.edu	37	19	49657720	49657720	+	Missense_Mutation	SNP	C	C	G	rs569932130|rs534731199	byFrequency	TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr19:49657720C>G	ENST00000252825.4	-	1	961	c.775G>C	c.(775-777)Gat>Cat	p.D259H	HRC_ENST00000595625.1_Missense_Mutation_p.D259H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	259	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.D259H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		Acatcatcatcatcatcatca	0.488																																					Melanoma(37;75 1097 24567 25669 30645)	Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GAT>CAT		histidine rich calcium binding protein							150.0	111.0	124.0					19																	49657720		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657720C>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.775G>C	19.37:g.49657720C>G	ENSP00000252825:p.Asp259His						p.D259H	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	962	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	259			4 X tandem repeats, acidic.|Asp-rich (acidic).|1-2.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.775G>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421779	0.43020	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.38887	1.11	3.15	1.86	0.25419	.	.	.	.	.	T	0.53769	0.1817	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.34329	-0.9833	9	0.66056	D	0.02	-2.0192	9.7476	0.40457	0.0:0.72:0.28:0.0	.	259	P23327	SRCH_HUMAN	H	259;229	ENSP00000252825:D259H	ENSP00000252825:D259H	D	-	1	0	HRC	54349532	0.003000	0.15002	0.018000	0.16275	0.236000	0.25371	0.980000	0.29513	1.486000	0.48398	0.456000	0.33151	GAT		0.488	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		4	34	0	0	0	0.009096	0	4	34				
GRHL1	29841	broad.mit.edu	37	2	10130834	10130834	+	Missense_Mutation	SNP	G	G	A	rs548450490		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:10130834G>A	ENST00000324907.9	+	10	1416	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q	GRHL1_ENST00000324883.5_Missense_Mutation_p.R238Q|GRHL1_ENST00000405379.2_Missense_Mutation_p.R427Q	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	427					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R427Q(1)|p.R238Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGAGCTGAGCGGAAAATCAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		17588	0.0		0.0	False		,,,				2504	0.001						uc002raa.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1279-1281)CGG>CAG		grainyhead-like 1							98.0	84.0	89.0					2																	10130834		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10130834G>A	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1280G>A	2.37:g.10130834G>A	ENSP00000324693:p.Arg427Gln					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.R238Q|GRHL1_uc010yjb.1_Missense_Mutation_p.R276Q	p.R427Q	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	10	1451	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		427					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1280G>A	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600537	0.87055	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.50277	0.75;0.75;0.75	5.76	5.76	0.90799	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81780	-0.0776	10	0.87932	D	0	-2.5604	19.9574	0.97228	0.0:0.0:1.0:0.0	.	238;427	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	Q	427;238;427	ENSP00000384209:R427Q;ENSP00000324494:R238Q;ENSP00000324693:R427Q	ENSP00000324494:R238Q	R	+	2	0	GRHL1	10048285	1.000000	0.71417	0.999000	0.59377	0.463000	0.32649	8.905000	0.92613	2.715000	0.92844	0.561000	0.74099	CGG		0.423	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		6	18	0	0	0	0.001168	0	6	18				
NT5C1B	93034	broad.mit.edu	37	2	18766072	18766072	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:18766072C>T	ENST00000359846.2	-	5	688	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R204Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R204Q|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R144Q	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	204					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.R204Q(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGTGCTGCGCCGGGAGCCAGG	0.711																																							uc002rcz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(610-612)CGG>CAG		5' nucleotidase, cytosolic IB isoform 1							17.0	20.0	19.0					2																	18766072		2196	4286	6482	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18766072C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.611G>A	2.37:g.18766072C>T	ENSP00000352904:p.Arg204Gln					NT5C1B_uc002rcy.2_Missense_Mutation_p.R204Q|NT5C1B_uc010exr.2_Missense_Mutation_p.R146Q|NT5C1B_uc010yju.1_Missense_Mutation_p.R144Q|NT5C1B_uc002rda.2_Missense_Mutation_p.R144Q|NT5C1B_uc010yjv.1_Missense_Mutation_p.R221Q|NT5C1B_uc010yjw.1_Missense_Mutation_p.R187Q|NT5C1B_uc010exs.2_Missense_Mutation_p.R206Q|NT5C1B_uc002rdb.1_5'UTR	p.R204Q	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	715	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	204					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.611G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746348	0.69418	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89552	-2.53	4.21	3.23	0.37069	.	4.551020	0.00567	N	0.000296	D	0.91998	0.7465	L	0.32530	0.975	0.22412	N	0.999122	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.962;0.999;0.999;0.999	D;D;P;D;B;D;P;D	0.79784	0.922;0.922;0.884;0.922;0.267;0.946;0.884;0.993	T	0.81769	-0.0781	10	0.51188	T	0.08	-42.7444	11.2361	0.48942	0.0:0.8129:0.187:0.0	.	187;221;144;187;146;144;204;204	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Q	204;146;144;204	ENSP00000412639:R146Q	ENSP00000305979:R144Q	R	-	2	0	NT5C1B-RDH14;NT5C1B	18629553	0.080000	0.21391	0.806000	0.32338	0.057000	0.15508	0.865000	0.27940	2.284000	0.76573	0.462000	0.41574	CGG		0.711	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			8	27	0	0	0	0.004482	0	8	27				
CEBPZ	10153	broad.mit.edu	37	2	37454813	37454813	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:37454813A>G	ENST00000234170.5	-	2	1668	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	508					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I508T(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CAGTGTGTCAATCTGCTCCCT	0.378																																							uc002rpz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1522-1524)ATT>ACT		CCAAT/enhancer binding protein zeta							101.0	95.0	97.0					2																	37454813		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454813A>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1523T>C	2.37:g.37454813A>G	ENSP00000234170:p.Ile508Thr						p.I508T	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			2	1553	-		all_hematologic(82;0.21)	508					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1523T>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	A	9.732	1.162536	0.21538	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.14640	2.49	5.71	5.71	0.89125	Armadillo-type fold (1);	0.364516	0.28398	N	0.015497	T	0.18759	0.0450	M	0.64404	1.975	0.35959	D	0.83443	B	0.23540	0.087	B	0.18263	0.021	T	0.06807	-1.0806	10	0.66056	D	0.02	.	15.9827	0.80125	1.0:0.0:0.0:0.0	.	508	Q03701	CEBPZ_HUMAN	T	508	ENSP00000234170:I508T	ENSP00000234170:I508T	I	-	2	0	CEBPZ	37308317	1.000000	0.71417	0.920000	0.36463	0.092000	0.18411	8.752000	0.91632	2.176000	0.68965	0.477000	0.44152	ATT		0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		15	57	0	0	0	0.00245	0	15	57				
CCT7	10574	broad.mit.edu	37	2	73467659	73467659	+	Silent	SNP	C	C	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:73467659C>A	ENST00000258091.5	+	3	396	c.255C>A	c.(253-255)tcC>tcA	p.S85S	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_Silent_p.S41S|CCT7_ENST00000537131.1_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	85					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.S85S(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TTGCCAAATCCCAAGATGCTG	0.373																																							uc002siz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)TCC>TCA		chaperonin containing TCP1, subunit 7 isoform a							89.0	84.0	86.0					2																	73467659		1859	4111	5970	SO:0001819	synonymous_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73467659C>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.255C>A	2.37:g.73467659C>A						CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Silent_p.S41S|CCT7_uc010feu.2_Silent_p.S85S|CCT7_uc010yrg.1_Intron|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	p.S85S	NM_006429	NP_006420	Q99832	TCPH_HUMAN			3	357	+			85					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	c.255C>A	CCDS46336.1																																																																																				0.373	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			6	48	1	0	3.59834e-05	0.001168	4.39797e-05	6	48				
ST6GAL2	84620	broad.mit.edu	37	2	107460326	107460326	+	Silent	SNP	A	A	G	rs201319234	byFrequency	TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:107460326A>G	ENST00000409382.3	-	2	718	c.108T>C	c.(106-108)gcT>gcC	p.A36A	ST6GAL2_ENST00000361686.4_Silent_p.A36A|ST6GAL2_ENST00000409087.3_Silent_p.A36A|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	36					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.A36A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTACAGGCTCAGCGGGGTTGC	0.582																																							uc002tdq.2		NA																	1	Substitution - coding silent(1)	p.A36T(1)	lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(106-108)GCT>GCC		ST6 beta-galactosamide							29.0	36.0	33.0					2																	107460326		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460326A>G	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.108T>C	2.37:g.107460326A>G						ST6GAL2_uc002tdr.2_Silent_p.A36A|ST6GAL2_uc002tds.3_Silent_p.A36A	p.A36A	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	227	-			36			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.108T>C	CCDS2073.1																																																																																				0.582	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		4	65	0	0	0	0.000602	0	4	65				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		3	26	0	0	0	0.004672	0	3	26				
SCN7A	6332	broad.mit.edu	37	2	167327178	167327178	+	Missense_Mutation	SNP	G	G	A	rs201965369		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:167327178G>A	ENST00000409855.1	-	6	737	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	204					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T204M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGTTTGAAGCGTTGGAATGAA	0.299																																							uc002udu.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(610-612)ACG>ATG		sodium channel, voltage-gated, type VII, alpha							42.0	42.0	42.0					2																	167327178		1798	4059	5857	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167327178G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.611C>T	2.37:g.167327178G>A	ENSP00000386796:p.Thr204Met					SCN7A_uc010fpm.1_RNA	p.T204M	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			6	738	-			204			Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.611C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	9.062	0.994820	0.19043	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98437	-4.93;-4.93;-4.93	4.62	-4.47	0.03525	Ion transport (1);	0.842297	0.10546	N	0.662079	D	0.90920	0.7146	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.84042	0.0365	10	0.38643	T	0.18	.	6.4322	0.21803	0.1928:0.0:0.4486:0.3585	.	204	Q01118	SCN7A_HUMAN	M	204	ENSP00000386796:T204M;ENSP00000413699:T204M;ENSP00000403846:T204M	ENSP00000259060:T204M	T	-	2	0	SCN7A	167035424	0.443000	0.25641	0.000000	0.03702	0.062000	0.15995	0.378000	0.20569	-0.874000	0.04027	-1.534000	0.00916	ACG		0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	34	0	0	0	0.004482	0	6	34				
TTN	7273	broad.mit.edu	37	2	179584290	179584290	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:179584290G>C	ENST00000591111.1	-	80	23202	c.22978C>G	c.(22978-22980)Cat>Gat	p.H7660D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.H7977D|TTN_ENST00000342992.6_Missense_Mutation_p.H6733D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 58.				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)	p.H6733D(1)		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)			CCAGAAACATGGACGGATACA	0.398																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	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.(20197-20199)CAT>GAT		titin isoform N2-A							178.0	173.0	175.0					2																	179584290		1864	4092	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584290G>C	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.22978C>G	2.37:g.179584290G>C	ENSP00000465570:p.His7660Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H3394D	p.H6733D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	20421	-			7660					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.20197C>G		.	.	.	.	.	.	.	.	.	.	G	8.847	0.943693	0.18281	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43875	0.1267	N	0.05012	-0.13	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38908	-0.9639	9	0.87932	D	0	.	14.9536	0.71094	0.0:0.2486:0.7514:0.0	.	7660	Q8WZ42	TITIN_HUMAN	D	6733	ENSP00000343764:H6733D	ENSP00000343764:H6733D	H	-	1	0	TTN	179292535	0.973000	0.33851	1.000000	0.80357	0.960000	0.62799	2.237000	0.43061	2.894000	0.99253	0.655000	0.94253	CAT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	254	0	0	0	0.007291	0	28	254				
MYEOV2	150678	broad.mit.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr2:241073371C>A	ENST00000607357.1	-	2	133	c.115G>T	c.(115-117)Gtt>Ttt	p.V39F	MYEOV2_ENST00000307266.3_Missense_Mutation_p.V70F|MYEOV2_ENST00000489698.1_5'UTR	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483																																							uc010zof.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GTT>TTT		hypothetical protein LOC150678 isoform 2							127.0	130.0	129.0					2																	241073371		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073371C>A	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.115G>T	2.37:g.241073371C>A	ENSP00000475979:p.Val39Phe					MYEOV2_uc002vyu.1_Missense_Mutation_p.V70F	p.V39F	NM_001163424	NP_001156896	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	161	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	39					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.115G>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.968818	0.74131	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.59169	0.2174	.	.	.	0.80722	D	1	P;P	0.38800	0.52;0.648	B;P	0.45377	0.419;0.478	T	0.61515	-0.7047	8	0.62326	D	0.03	-4.0557	10.5952	0.45333	0.0:0.9036:0.0:0.0963	.	39;70	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	F	70;60	.	ENSP00000304147:V70F	V	-	1	0	MYEOV2	240722044	1.000000	0.71417	0.472000	0.27241	0.971000	0.66376	6.092000	0.71414	1.042000	0.40150	0.650000	0.86243	GTT		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		41	103	1	0	6.48837e-15	0.010771	8.9215e-15	41	103				
BRD1	23774	broad.mit.edu	37	22	50216780	50216780	+	Silent	SNP	T	T	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr22:50216780T>G	ENST00000216267.8	-	1	1672	c.1186A>C	c.(1186-1188)Agg>Cgg	p.R396R	BRD1_ENST00000404760.1_Silent_p.R396R|BRD1_ENST00000542442.1_Silent_p.R35R|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000457780.2_Silent_p.R396R|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.R396R	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	396					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R396R(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCAGAGGCCTCCGGGTGCAG	0.532																																							uc003biv.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1186-1188)AGG>CGG		bromodomain containing protein 1							114.0	136.0	129.0					22																	50216780		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216780T>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1186A>C	22.37:g.50216780T>G						BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.R396R|BRD1_uc011arh.1_Silent_p.R396R|BRD1_uc003biu.3_Silent_p.R396R	p.R396R	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1673	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	396					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1186A>C	CCDS14080.1																																																																																				0.532	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		5	209	0	0	0	0.001168	0	5	209				
SPATA16	83893	broad.mit.edu	37	3	172835183	172835183	+	Silent	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr3:172835183A>G	ENST00000351008.3	-	2	522	c.339T>C	c.(337-339)ccT>ccC	p.P113P		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.P113P(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGGGATGTGAGGCAGAGGCA	0.413																																							uc003fin.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(337-339)CCT>CCC		spermatogenesis associated 16							416.0	379.0	391.0					3																	172835183		2203	4300	6503	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835183A>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.339T>C	3.37:g.172835183A>G							p.P113P	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	497	-	Ovarian(172;0.00319)|Breast(254;0.197)		113					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.339T>C	CCDS3221.1																																																																																				0.413	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		3	131	0	0	0	0.004672	0	3	131				
FRAS1	80144	broad.mit.edu	37	4	79410160	79410160	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr4:79410160G>T	ENST00000264895.6	+	59	9324	c.8884G>T	c.(8884-8886)Gct>Tct	p.A2962S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2958	Calx-beta 4.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.A2963S(1)|p.A2962S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGCCATTCCGCTCAGGTCAT	0.502																																							uc003hlb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(8884-8886)GCT>TCT		Fraser syndrome 1							102.0	97.0	99.0					4																	79410160		1949	4142	6091	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79410160G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8884G>T	4.37:g.79410160G>T	ENSP00000264895:p.Ala2962Ser						p.A2962S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			59	9324	+			2957			Calx-beta 4.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8884G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.89|19.89	3.911068|3.911068	0.72983|0.72983	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.66280|.	-0.2|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86948|0.86948	0.6056|0.6056	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89376|0.89376	0.3678|0.3678	10|5	0.87932|.	D|.	0|.	.|.	19.8579|19.8579	0.96771|0.96771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2962|.	E9PHH6|.	.|.	S|L	2962|1190	ENSP00000264895:A2962S|.	ENSP00000264895:A2962S|.	A|R	+|+	1|2	0|0	FRAS1|FRAS1	79629184|79629184	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.004000|0.004000	0.04260|0.04260	9.334000|9.334000	0.96470|0.96470	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.502	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	50	1	0	7.48243e-07	0.006214	9.68314e-07	10	50				
ANK2	287	broad.mit.edu	37	4	114170985	114170985	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr4:114170985G>T	ENST00000357077.4	+	10	1010	c.957G>T	c.(955-957)ttG>ttT	p.L319F	ANK2_ENST00000264366.6_Missense_Mutation_p.L319F|ANK2_ENST00000394537.3_Missense_Mutation_p.L319F|ANK2_ENST00000506722.1_Missense_Mutation_p.L298F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	319					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L319F(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACTTCTGTTGGAACGGGGTG	0.453																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(955-957)TTG>TTT		ankyrin 2 isoform 1							98.0	92.0	94.0					4																	114170985		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114170985G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.957G>T	4.37:g.114170985G>T	ENSP00000349588:p.Leu319Phe					ANK2_uc003ibd.3_Missense_Mutation_p.L298F|ANK2_uc003ibf.3_Missense_Mutation_p.L319F|ANK2_uc003ibc.2_Missense_Mutation_p.L295F|ANK2_uc011cgb.1_Missense_Mutation_p.L334F	p.L319F	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	10	1057	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	319			ANK 9.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.957G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157600	0.78114	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.73469	-0.75;2.16;2.16;2.16;-0.67;2.16;2.16	5.81	4.79	0.61399	Ankyrin repeat-containing domain (3);	0.000000	0.43919	D	0.000506	D	0.85843	0.5791	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.86975	0.2100	10	0.87932	D	0	.	10.5593	0.45135	0.0767:0.0:0.7883:0.135	.	319;319;319;298;298	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	F	298;298;298;334;319;319;319;298	ENSP00000423799:L298F;ENSP00000421011:L298F;ENSP00000421067:L298F;ENSP00000424722:L334F;ENSP00000378044:L319F;ENSP00000349588:L319F;ENSP00000264366:L319F	ENSP00000264366:L319F	L	+	3	2	ANK2	114390434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.604000	0.67626	2.751000	0.94390	0.555000	0.69702	TTG		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		17	57	1	0	1.15919e-05	0.008871	1.43674e-05	17	57				
NPY1R	4886	broad.mit.edu	37	4	164247318	164247318	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr4:164247318G>A	ENST00000296533.2	-	2	920	c.389C>T	c.(388-390)tCt>tTt	p.S130F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	130					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.S130F(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAACCAGAGAGAAAATGGA	0.423																																							uc003iqm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(388-390)TCT>TTT		neuropeptide Y receptor Y1							143.0	126.0	132.0					4																	164247318		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247318G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.389C>T	4.37:g.164247318G>A	ENSP00000354652:p.Ser130Phe					NPY1R_uc011cjj.1_Intron	p.S130F	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	655	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	130			Helical; Name=3; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.389C>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423691	0.83559	.	.	ENSG00000164128	ENST00000296533	T	0.36699	1.24	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69525	-0.5122	10	0.87932	D	0	.	20.1512	0.98086	0.0:0.0:1.0:0.0	.	130	P25929	NPY1R_HUMAN	F	130	ENSP00000354652:S130F	ENSP00000354652:S130F	S	-	2	0	NPY1R	164466768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.771000	0.95319	0.655000	0.94253	TCT		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	61	0	0	0	0.003163	0	13	61				
ADCY2	108	broad.mit.edu	37	5	7706887	7706887	+	Silent	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr5:7706887C>T	ENST00000338316.4	+	8	1229	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.I200I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	380					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I380I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGTTGATATCAACATGCGCG	0.463																																							uc003jdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1138-1140)ATC>ATT		adenylate cyclase 2							270.0	238.0	249.0					5																	7706887		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706887C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1140C>T	5.37:g.7706887C>T						ADCY2_uc011cmo.1_Silent_p.I200I	p.I380I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			8	1207	+			380			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1140C>T	CCDS3872.2																																																																																				0.463	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		16	242	0	0	0	0.00499	0	16	242				
BASP1	10409	broad.mit.edu	37	5	17275411	17275411	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr5:17275411C>T	ENST00000322611.3	+	2	346	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	29					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A29V(2)		endometrium(1)|lung(8)	9						GCCGAGGGCGCGGCGACGGAA	0.627																																							uc003jfx.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(85-87)GCG>GTG		brain abundant, membrane attached signal protein							36.0	41.0	39.0					5																	17275411		2200	4295	6495	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275411C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.86C>T	5.37:g.17275411C>T	ENSP00000319281:p.Ala29Val						p.A29V	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	265	+			29					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.86C>T	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740309	0.30865	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.60672	0.17	4.57	4.57	0.56435	.	0.382752	0.20824	N	0.085008	T	0.58235	0.2108	L	0.50333	1.59	0.39005	D	0.959433	P	0.51351	0.944	P	0.45829	0.494	T	0.67799	-0.5577	10	0.87932	D	0	-0.6035	15.9387	0.79736	0.0:1.0:0.0:0.0	.	29	P80723	BASP1_HUMAN	V	29	ENSP00000319281:A29V	ENSP00000319281:A29V	A	+	2	0	BASP1	17328411	0.998000	0.40836	0.009000	0.14445	0.408000	0.30992	5.531000	0.67148	2.066000	0.61787	0.455000	0.32223	GCG		0.627	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			4	58	0	0	0	0.009096	0	4	58				
CDH10	1008	broad.mit.edu	37	5	24537504	24537504	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr5:24537504C>T	ENST00000264463.4	-	3	1018	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	171	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E171K(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGACATTTCGGGAACACTA	0.333										HNSCC(23;0.051)																													uc003jgr.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(511-513)GAA>AAA		cadherin 10, type 2 preproprotein							132.0	138.0	136.0					5																	24537504		2203	4299	6502	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537504C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.511G>A	5.37:g.24537504C>T	ENSP00000264463:p.Glu171Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E171K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	843	-			171			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.511G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718251	0.68844	.	.	ENSG00000040731	ENST00000264463	T	0.76316	-1.01	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	H	0.97465	4.01	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.94891	0.8048	10	0.87932	D	0	.	18.8595	0.92266	0.0:1.0:0.0:0.0	.	171	Q9Y6N8	CAD10_HUMAN	K	171	ENSP00000264463:E171K	ENSP00000264463:E171K	E	-	1	0	CDH10	24573261	1.000000	0.71417	0.994000	0.49952	0.113000	0.19764	7.818000	0.86416	2.701000	0.92244	0.557000	0.71058	GAA		0.333	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	198	0	0	0	0.00499	0	17	198				
ADAM19	8728	broad.mit.edu	37	5	156915310	156915310	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr5:156915310C>T	ENST00000517905.1	-	21	2557	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	ADAM19_ENST00000394020.1_Missense_Mutation_p.R840Q|ADAM19_ENST00000257527.4_Missense_Mutation_p.R838Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.R571Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R838Q(1)|p.R839Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAATTGGCCGGCTTGGAGG	0.572																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2512-2514)CGG>CAG		ADAM metallopeptidase domain 19 preproprotein							92.0	98.0	96.0					5																	156915310		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915310C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2513G>A	5.37:g.156915310C>T	ENSP00000428654:p.Arg838Gln					ADAM19_uc003lww.1_Missense_Mutation_p.R571Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R437Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R769Q	p.R838Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2577	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	838			Cytoplasmic (Potential).|SH3-binding (Potential).|SH3-binding (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2513G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.263816|4.263816	0.80358|0.80358	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.01745	.|4.66;4.74;4.77;4.72	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.07279|0.07279	0.0184|0.0184	L|L	0.41492|0.41492	1.28|1.28	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.995;0.988;0.997	T|T	0.23583|0.23583	-1.0184|-1.0184	5|10	.|0.59425	.|D	.|0.04	.|.	17.7358|17.7358	0.88392|0.88392	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|838;838;571	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	S|Q	409|571;838;840;838	.|ENSP00000414088:R571Q;ENSP00000257527:R838Q;ENSP00000377588:R840Q;ENSP00000428654:R838Q	.|ENSP00000257527:R838Q	G|R	-|-	1|2	0|0	ADAM19|ADAM19	156847888|156847888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.355000|0.355000	0.29361|0.29361	4.577000|4.577000	0.60922|0.60922	2.628000|2.628000	0.89032|0.89032	0.491000|0.491000	0.48974|0.48974	GGC|CGG		0.572	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		17	145	0	0	0	0.006122	0	17	145				
RARS	5917	broad.mit.edu	37	5	167922429	167922429	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr5:167922429A>G	ENST00000231572.3	+	6	743	c.689A>G	c.(688-690)tAt>tGt	p.Y230C	RARS_ENST00000538719.1_Missense_Mutation_p.Y24C	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	230					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.Y230C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTTGCAGGGTATGACGTGCTC	0.408																																							uc003lzx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(688-690)TAT>TGT		arginyl-tRNA synthetase							176.0	167.0	170.0					5																	167922429		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167922429A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.689A>G	5.37:g.167922429A>G	ENSP00000231572:p.Tyr230Cys					RARS_uc011deo.1_Missense_Mutation_p.Y24C	p.Y230C	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	6	730	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	230					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.689A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740627	0.69304	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.70164	-0.46;-0.24	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.131490	0.53938	D	0.000058	D	0.84061	0.5389	M	0.92923	3.36	0.53688	D	0.999971	D	0.59357	0.985	P	0.61275	0.886	D	0.88388	0.3006	10	0.87932	D	0	-7.8201	14.7993	0.69900	1.0:0.0:0.0:0.0	.	230	P54136	SYRC_HUMAN	C	230;24	ENSP00000231572:Y230C;ENSP00000439108:Y24C	ENSP00000231572:Y230C	Y	+	2	0	RARS	167855007	1.000000	0.71417	0.771000	0.31576	0.742000	0.42306	8.904000	0.92590	1.897000	0.54924	0.533000	0.62120	TAT		0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		7	168	0	0	0	0.001984	0	7	168				
SLC22A2	6582	broad.mit.edu	37	6	160679385	160679385	+	Silent	SNP	G	G	T	rs199912224		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr6:160679385G>T	ENST00000366953.3	-	1	663	c.405C>A	c.(403-405)atC>atA	p.I135I	SLC22A2_ENST00000366952.1_Silent_p.I114I|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	135					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.I135I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CCTCGGTGACGATGGACGAGC	0.617																																							uc003qtf.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(403-405)ATC>ATA		solute carrier family 22 member 2							59.0	67.0	64.0					6																	160679385		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679385G>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.405C>A	6.37:g.160679385G>T						SLC22A2_uc003qte.1_Silent_p.I135I|SLC22A2_uc003qth.1_Silent_p.I135I	p.I135I	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	575	-		Breast(66;0.000776)|Ovarian(120;0.0303)	135			Extracellular (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.405C>A	CCDS5276.1																																																																																				0.617	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		7	76	1	0	2.7689e-08	0.001984	3.63676e-08	7	76				
AKAP9	10142	broad.mit.edu	37	7	91645514	91645514	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr7:91645514G>A	ENST00000359028.2	+	12	3945	c.3720G>A	c.(3718-3720)gaG>gaA	p.E1240E	AKAP9_ENST00000358100.2_Silent_p.E1240E|AKAP9_ENST00000356239.3_Silent_p.E1228E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1240					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E1240E(1)|p.E1228E(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGACAAAGAGAATTCTGGTG	0.294			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(3682-3684)GAG>GAA		A-kinase anchor protein 9 isoform 2							57.0	58.0	58.0					7																	91645514		2201	4294	6495	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91645514G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3720G>A	7.37:g.91645514G>A						AKAP9_uc003ule.2_Silent_p.E1240E|AKAP9_uc003ulf.2_Silent_p.E1228E|AKAP9_uc003uli.2_Silent_p.E853E	p.E1228E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	3909	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1240					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.3684G>A																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	51	0	0	0	0.001168	0	6	51				
ACHE	43	broad.mit.edu	37	7	100491461	100491461	+	Silent	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr7:100491461G>A	ENST00000412389.1	-	1	548	c.393C>T	c.(391-393)aaC>aaT	p.N131N	ACHE_ENST00000419336.2_Silent_p.N131N|ACHE_ENST00000411582.1_Silent_p.N131N|ACHE_ENST00000241069.5_Silent_p.N131N|ACHE_ENST00000428317.1_Silent_p.N131N|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000302913.4_Silent_p.N131N			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	131					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.N131N(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GTGTCCACACGTTGAGGTACA	0.592																																							uc003uxd.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(391-393)AAC>AAT		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						130.0	118.0	122.0					7																	100491461		2203	4300	6503	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491461G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.393C>T	7.37:g.100491461G>A						ACHE_uc003uxe.2_Silent_p.N131N|ACHE_uc003uxf.2_Silent_p.N131N|ACHE_uc003uxg.2_Silent_p.N131N|ACHE_uc003uxh.2_Silent_p.N131N|ACHE_uc003uxi.2_Silent_p.N131N|ACHE_uc003uxj.1_Silent_p.N250N	p.N131N	NM_000665	NP_000656	P22303	ACES_HUMAN			1	549	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		131					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.393C>T	CCDS5709.1																																																																																				0.592	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		5	140	0	0	0	0.001168	0	5	140				
CHRM2	1129	broad.mit.edu	37	7	136700046	136700046	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr7:136700046C>T	ENST00000445907.2	+	3	962	c.434C>T	c.(433-435)gCa>gTa	p.A145V	CHRM2_ENST00000320658.5_Missense_Mutation_p.A145V|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A145V|CHRM2_ENST00000401861.1_Missense_Mutation_p.A145V|CHRM2_ENST00000402486.3_Missense_Mutation_p.A145V|CHRM2_ENST00000397608.3_Missense_Mutation_p.A145V|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	145					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.A145V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATGATGATTGCAGCTGCCTGG	0.498																																							uc003vtf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(433-435)GCA>GTA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						70.0	70.0	70.0					7																	136700046		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700046C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.434C>T	7.37:g.136700046C>T	ENSP00000399745:p.Ala145Val					CHRM2_uc003vtg.1_Missense_Mutation_p.A145V|CHRM2_uc003vtj.1_Missense_Mutation_p.A145V|CHRM2_uc003vtk.1_Missense_Mutation_p.A145V|CHRM2_uc003vtl.1_Missense_Mutation_p.A145V|CHRM2_uc003vtm.1_Missense_Mutation_p.A145V|CHRM2_uc003vti.1_Missense_Mutation_p.A145V|CHRM2_uc003vto.1_Missense_Mutation_p.A145V|CHRM2_uc003vtn.1_Missense_Mutation_p.A145V|uc003vtp.1_Intron	p.A145V	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1057	+			145			Helical; Name=4; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.434C>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652865	0.88056	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	L	0.58101	1.795	0.80722	D	1	P	0.42757	0.789	P	0.52957	0.714	T	0.27088	-1.0084	10	0.27785	T	0.31	-8.2707	19.7244	0.96157	0.0:1.0:0.0:0.0	.	145	P08172	ACM2_HUMAN	V	145	ENSP00000399745:A145V;ENSP00000415386:A145V;ENSP00000319984:A145V;ENSP00000380733:A145V;ENSP00000384937:A145V;ENSP00000384401:A145V	ENSP00000319984:A145V	A	+	2	0	CHRM2	136350586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.954000	0.70298	2.659000	0.90383	0.655000	0.94253	GCA		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			5	173	0	0	0	0.001168	0	5	173				
KCNV2	169522	broad.mit.edu	37	9	2719006	2719006	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr9:2719006T>G	ENST00000382082.3	+	1	1505	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	423					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F423V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATGGGCATCTTCACTTTCTC	0.632																																							uc003zho.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1267-1269)TTC>GTC		potassium channel, subfamily V, member 2							76.0	66.0	70.0					9																	2719006		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2719006T>G	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1267T>G	9.37:g.2719006T>G	ENSP00000371514:p.Phe423Val						p.F423V	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1481	+			423			Helical; Name=Segment S5; (Potential).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.1267T>G	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.453466	0.26161	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.22	1.59	0.23543	Ion transport (1);	0.046625	0.85682	D	0.000000	D	0.95560	0.8557	N	0.13327	0.33	0.46222	D	0.998939	P	0.42584	0.784	P	0.51657	0.676	D	0.91286	0.5055	10	0.27785	T	0.31	.	9.1631	0.37035	0.0:0.2098:0.0:0.7902	.	423	Q8TDN2	KCNV2_HUMAN	V	423	ENSP00000371514:F423V	ENSP00000371514:F423V	F	+	1	0	KCNV2	2709006	1.000000	0.71417	0.486000	0.27416	0.606000	0.37113	2.916000	0.48813	0.020000	0.15106	-0.400000	0.06385	TTC		0.632	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	35	0	0	0	0.000602	0	5	35				
CORO2A	7464	broad.mit.edu	37	9	100893269	100893269	+	Missense_Mutation	SNP	C	C	G	rs369134629		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr9:100893269C>G	ENST00000343933.5	-	7	1095	c.838G>C	c.(838-840)Gcg>Ccg	p.A280P	CORO2A_ENST00000375077.4_Missense_Mutation_p.A280P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	280					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.A280P(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGGTGTCCGCGTCATAGAAG	0.652																																							uc004ayl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(838-840)GCG>CCG		coronin, actin binding protein, 2A							77.0	55.0	62.0					9																	100893269		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100893269C>G	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.838G>C	9.37:g.100893269C>G	ENSP00000343746:p.Ala280Pro					CORO2A_uc004aym.2_Missense_Mutation_p.A280P	p.A280P	NM_003389	NP_003380	Q92828	COR2A_HUMAN			7	1104	-		Acute lymphoblastic leukemia(62;0.0559)	280			WD 5.		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.838G>C	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931546	0.02359	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.28255	1.62;1.62	5.34	-4.89	0.03103	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.686916	0.16012	N	0.233745	T	0.06826	0.0174	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.31166	-0.9953	10	0.02654	T	1	0.0551	2.231	0.03996	0.504:0.1531:0.1887:0.1543	.	280	Q92828	COR2A_HUMAN	P	280	ENSP00000343746:A280P;ENSP00000364218:A280P	ENSP00000343746:A280P	A	-	1	0	CORO2A	99933090	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-0.614000	0.05604	-0.623000	0.05618	0.511000	0.50034	GCG		0.652	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		3	26	0	0	0	0.009096	0	3	26				
PTBP3	9991	broad.mit.edu	37	9	115092722	115092722	+	Splice_Site	SNP	T	T	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr9:115092722T>A	ENST00000374255.2	-	2	188	c.41A>T	c.(40-42)aAg>aTg	p.K14M	PTBP3_ENST00000458258.1_Intron|PTBP3_ENST00000374257.1_Intron|PTBP3_ENST00000343327.2_Intron|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000334318.6_Splice_Site_p.K14M			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	14					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K14M(1)									GATTCCTACCTTTAAACCGAC	0.289																																							uc004bfw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)AAG>ATG		ROD1 regulator of differentiation 1 isoform 1							64.0	63.0	64.0					9																	115092722		2199	4290	6489	SO:0001630	splice_region_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115092722T>A	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.42+1A>T	9.37:g.115092722T>A						ROD1_uc004bfv.2_Intron|ROD1_uc004bfx.2_Missense_Mutation_p.K14M|ROD1_uc011lwu.1_Intron|ROD1_uc004bfy.2_Intron|ROD1_uc004bfz.2_Intron	p.K14M	NM_005156	NP_005147	O95758	ROD1_HUMAN			2	228	-			14					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	c.41A>T	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921279	0.52653	.	.	ENSG00000119314	ENST00000334318;ENST00000374255;ENST00000450374	T;T	0.58797	0.31;0.34	5.51	5.51	0.81932	.	.	.	.	.	T	0.68485	0.3006	L	0.45352	1.415	0.80722	D	1	D;P	0.76494	0.999;0.848	D;P	0.79784	0.993;0.678	T	0.71384	-0.4609	9	0.87932	D	0	.	13.4288	0.61042	0.0:0.0:0.0:1.0	.	14;14	O95758-5;O95758	.;ROD1_HUMAN	M	14	ENSP00000334499:K14M;ENSP00000363373:K14M	ENSP00000334499:K14M	K	-	2	0	ROD1	114132543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.795000	0.62489	2.207000	0.71202	0.528000	0.53228	AAG		0.289	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		Missense_Mutation	13	62	0	0	0	0.00499	0	13	62				
CDK5RAP2	55755	broad.mit.edu	37	9	123298731	123298731	+	Missense_Mutation	SNP	C	C	T	rs367746734		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr9:123298731C>T	ENST00000349780.4	-	7	760	c.581G>A	c.(580-582)cGt>cAt	p.R194H	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R194H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R194H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R194H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	194					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R194H(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTTTCCAAACGCAACCGAAG	0.517																																							uc004bkf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(580-582)CGT>CAT		CDK5 regulatory subunit associated protein 2		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	125.0	106.0	112.0		581,581	2.5	0.9	9		112	0,8600		0,0,4300	no	missense,missense	CDK5RAP2	NM_001011649.1,NM_018249.4	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	194/1815,194/1894	123298731	2,13004	2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123298731C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.581G>A	9.37:g.123298731C>T	ENSP00000343818:p.Arg194His					CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R194H|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R194H|CDK5RAP2_uc004bki.2_5'UTR	p.R194H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			7	762	-			194					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.581G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276397	0.59649	4.54E-4	0.0	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.03717	3.93;3.83;3.93;3.84	5.39	2.55	0.30701	.	0.290799	0.30043	N	0.010546	T	0.02267	0.0070	N	0.08118	0	0.19575	N	0.999968	B;B;B	0.27823	0.004;0.19;0.003	B;B;B	0.32465	0.001;0.146;0.001	T	0.44498	-0.9324	10	0.45353	T	0.12	.	6.3461	0.21351	0.0:0.6373:0.0:0.3627	.	194;194;194	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	H	194;194;194;194;196	ENSP00000354065:R194H;ENSP00000352258:R194H;ENSP00000343818:R194H;ENSP00000353317:R194H	ENSP00000341695:R196H	R	-	2	0	CDK5RAP2	122338552	0.714000	0.27936	0.945000	0.38365	0.800000	0.45204	1.156000	0.31712	0.652000	0.30806	-0.259000	0.10710	CGT		0.517	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		8	65	0	0	0	0.00308	0	8	65				
SSNA1	8636	broad.mit.edu	37	9	140083651	140083651	+	Silent	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr9:140083651A>G	ENST00000322310.5	+	2	266	c.186A>G	c.(184-186)gcA>gcG	p.A62A	SSNA1_ENST00000459860.1_3'UTR|ANAPC2_ENST00000323927.2_5'Flank	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	62					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.A62A(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AGAACCTGGCACGCAAGATTG	0.647																																							uc004cls.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(184-186)GCA>GCG		nuclear autoantigen of 14 kDa							53.0	42.0	46.0					9																	140083651		2203	4300	6503	SO:0001819	synonymous_variant	8636				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus		g.chr9:140083651A>G	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.186A>G	9.37:g.140083651A>G						ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	p.A62A	NM_003731	NP_003722	O43805	SSNA1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)	2	311	+	all_cancers(76;0.0926)		62			Potential.		Q5VSG0|Q6FG70|Q9BVW8	Silent	SNP	ENST00000322310.5	37	c.186A>G	CCDS7034.1																																																																																				0.647	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1	NM_003731		5	24	0	0	0	0.001168	0	5	24				
RPS6KA3	6197	broad.mit.edu	37	X	20195194	20195194	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chrX:20195194A>G	ENST00000379565.3	-	11	1061	c.854T>C	c.(853-855)cTt>cCt	p.L285P	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L257P|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L256P|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L257P	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	285	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L285P(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TGGCATTCCAAGTTTGGCTCT	0.284																																							uc004czu.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(853-855)CTT>CCT		ribosomal protein S6 kinase, 90kDa, polypeptide							57.0	62.0	60.0					X																	20195194		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20195194A>G	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.854T>C	X.37:g.20195194A>G	ENSP00000368884:p.Leu285Pro					RPS6KA3_uc011mjk.1_Missense_Mutation_p.L256P|RPS6KA3_uc004czv.2_Missense_Mutation_p.L273P|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L257P|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L257P	p.L285P	NM_004586	NP_004577	P51812	KS6A3_HUMAN			11	854	-			285			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.854T>C	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364099	0.61513	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.54	5.54	0.83059	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	0.85682	D	0.000000	T	0.61751	0.2372	L	0.37630	1.12	0.80722	D	1	D;D;D;D	0.89917	0.993;0.997;1.0;0.998	P;P;D;P	0.79784	0.862;0.725;0.993;0.864	T	0.57820	-0.7745	10	0.24483	T	0.36	.	14.6987	0.69142	1.0:0.0:0.0:0.0	.	257;256;257;285	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	P	285;257;256;257	ENSP00000368884:L285P;ENSP00000440220:L257P;ENSP00000368865:L256P;ENSP00000444837:L257P	ENSP00000368865:L256P	L	-	2	0	RPS6KA3	20105115	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.257000	0.95545	1.852000	0.53769	0.417000	0.27973	CTT		0.284	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		45	154	0	0	0	0.01441	0	45	154				
MED14	9282	broad.mit.edu	37	X	40569230	40569230	+	Splice_Site	SNP	C	C	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chrX:40569230C>A	ENST00000324817.1	-	9	1292		c.e9+1			NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.?(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGATCTTTTACCTTCATGGCT	0.303																																							uc004dex.3		NA																	1	Unknown(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.e9+1		mediator complex subunit 14							36.0	33.0	34.0					X																	40569230		2203	4299	6502	SO:0001630	splice_region_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40569230C>A	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1173+1G>T	X.37:g.40569230C>A						MED14_uc010nhe.1_Splice_Site_p.K275_splice	p.K391_splice	NM_004229	NP_004220	O60244	MED14_HUMAN			9	1313	-								Q4KMR7|Q9UNB3	Splice_Site	SNP	ENST00000324817.1	37	c.1173_splice	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672325	0.67928	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3876	0.66956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED14	40454174	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.487000	0.81328	2.269000	0.75478	0.594000	0.82650	.		0.303	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	Intron	13	33	1	0	0.000151284	0.001855	0.000179906	13	33				
FAM120C	54954	broad.mit.edu	37	X	54209079	54209079	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chrX:54209079G>A	ENST00000375180.2	-	1	609	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	FAM120C_ENST00000328235.4_Missense_Mutation_p.R185C|FAM120C_ENST00000477084.1_Missense_Mutation_p.R185C|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185							poly(A) RNA binding (GO:0044822)	p.R185C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCACCGACGGCCCCACTCG	0.716																																							uc004dsz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(553-555)CGT>TGT		hypothetical protein LOC54954							17.0	13.0	15.0					X																	54209079		2156	4219	6375	SO:0001583	missense	54954							g.chrX:54209079G>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.553C>T	X.37:g.54209079G>A	ENSP00000364324:p.Arg185Cys					FAM120C_uc011moh.1_Missense_Mutation_p.R185C|FAM120C_uc004dta.2_Missense_Mutation_p.R185C	p.R185C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			1	636	-			185					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.553C>T	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.027168	0.75390	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.54071	0.59;0.59;0.59	3.38	3.38	0.38709	.	0.377447	0.24552	U	0.037560	T	0.54615	0.1869	L	0.27053	0.805	0.50039	D	0.999847	D;D;D	0.76494	0.999;0.987;0.999	P;P;P	0.59424	0.854;0.653;0.857	T	0.60657	-0.7220	10	0.72032	D	0.01	.	13.2908	0.60270	0.0:0.0:1.0:0.0	.	185;185;185	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	C	185	ENSP00000364324:R185C;ENSP00000329896:R185C;ENSP00000420718:R185C	ENSP00000329896:R185C	R	-	1	0	FAM120C	54225804	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	2.007000	0.40883	1.694000	0.51137	0.513000	0.50165	CGT		0.716	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	38	0	0	0	0.009096	0	4	38				
DCAF12L2	340578	broad.mit.edu	37	X	125298988	125298988	+	Missense_Mutation	SNP	C	C	T	rs374064147		TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chrX:125298988C>T	ENST00000360028.2	-	1	946	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R307Q			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	307								p.R307Q(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACATTCTCTCGGCAGTAGGG	0.607																																							uc004euk.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(919-921)CGA>CAA		DDB1 and CUL4 associated factor 12-like 2		C	GLN/ARG	0,3835		0,0,1632,571	101.0	104.0	103.0		920	3.8	1.0	X		103	2,6726		0,2,2426,1872	no	missense	DCAF12L2	NM_001013628.2	43	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	307/464	125298988	2,10561	2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298988C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.920G>A	X.37:g.125298988C>T	ENSP00000353128:p.Arg307Gln						p.R307Q	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	947	-			307					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.920G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	9.319	1.057639	0.19907	0.0	2.97E-4	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	4.71	3.84	0.44239	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.565745	0.13201	N	0.405979	T	0.45256	0.1333	L	0.37630	1.12	0.28641	N	0.90715	B	0.30709	0.291	B	0.17722	0.019	T	0.28299	-1.0048	10	0.15952	T	0.53	.	8.5627	0.33520	0.0:0.8864:0.0:0.1136	.	307	Q5VW00	DC122_HUMAN	Q	307	ENSP00000441489:R307Q;ENSP00000353128:R307Q	ENSP00000353128:R307Q	R	-	2	0	DCAF12L2	125126669	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	4.839000	0.62810	1.059000	0.40554	0.544000	0.68410	CGA		0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		23	245	0	0	0	0.003954	0	23	245				
F9	2158	broad.mit.edu	37	X	138630531	138630531	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chrX:138630531G>A	ENST00000218099.2	+	5	408	c.401G>A	c.(400-402)tGt>tAt	p.C134Y	F9_ENST00000394090.2_Missense_Mutation_p.C96Y|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	134	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> Y (in HEMB). {ECO:0000269|PubMed:12588353}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.C134Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GATGTAACATGTAACATTAAG	0.363																																							uc004fas.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CD930965|CM940487|CM940488|CM993338	F9	D|M		c.(400-402)TGT>TAT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						183.0	160.0	168.0					X																	138630531		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630531G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.401G>A	X.37:g.138630531G>A	ENSP00000218099:p.Cys134Tyr					F9_uc004fat.1_Missense_Mutation_p.C96Y	p.C134Y	NM_000133	NP_000124	P00740	FA9_HUMAN			5	430	+	Acute lymphoblastic leukemia(192;0.000127)		134		C -> Y (in HEMB).	EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.401G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020899	0.35606	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.99966	-10.09;-10.09	4.94	4.94	0.65067	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	H	0.98426	4.23	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.98012	1.0366	10	0.87932	D	0	.	14.8306	0.70146	0.0:0.0:1.0:0.0	.	96;134	Q5FBE1;P00740	.;FA9_HUMAN	Y	134;96	ENSP00000218099:C134Y;ENSP00000377650:C96Y	ENSP00000218099:C134Y	C	+	2	0	F9	138458197	1.000000	0.71417	0.233000	0.24025	0.134000	0.20937	7.037000	0.76531	2.174000	0.68829	0.544000	0.68410	TGT		0.363	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			9	234	0	0	0	0.006214	0	9	234				
GLIPR1	11010	broad.mit.edu	37	12	75884200	75884201	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr12:75884200_75884201insA	ENST00000266659.3	+	3	636_637	c.435_436insA	c.(436-438)agtfs	p.S146fs	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	146	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TTTGGGCAGATAGTTACAAAGT	0.386																																							uc001sxs.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(433-438)GATAGTfs		GLI pathogenesis-related 1 precursor																																				SO:0001589	frameshift_variant	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75884200_75884201insA	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.436dupA	12.37:g.75884201_75884201dupA	ENSP00000266659:p.Ser146fs					GLIPR1_uc009zsb.1_Frame_Shift_Ins_p.I169fs	p.D145fs	NM_006851	NP_006842	P48060	GLIP1_HUMAN			3	583_584	+			145_146					A7YET6|F8VUC2|Q15409|Q969K2	Frame_Shift_Ins	INS	ENST00000266659.3	37	c.435_436insA	CCDS9011.1																																																																																				0.386	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		14	104	NA	NA	NA	NA	NA	14	104	---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69129290	69129292	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr3:69129290_69129292delCTT	ENST00000361055.4	-	2	87_89	c.33_35delAAG	c.(31-36)agaagg>agg	p.11_12RR>R	UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	11					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CTCTATTCTCCTTCTTTTCTTCT	0.665																																							uc003dno.2		NA																	0				ovary(1)	1						c.(31-36)AGAAGG>AGG		ubiquitin-activating enzyme 3 isoform 1																																				SO:0001651	inframe_deletion	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69129290_69129292delCTT	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.33_35delAAG	3.37:g.69129293_69129295delCTT	ENSP00000354340:p.Arg13del					UBA3_uc003dnq.2_Intron|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	p.11_12RR>R	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	2	53_55	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	11_12					A6NLB5|A8K027|O76088|Q9NTU3	In_Frame_Del	DEL	ENST00000361055.4	37	c.33_35delAAG	CCDS2909.1																																																																																				0.665	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		18	57	NA	NA	NA	NA	NA	18	57	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43305942	43305954	+	Frame_Shift_Del	DEL	TTCTAGAAGCTGA	TTCTAGAAGCTGA	-			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	TTCTAGAAGCTGA	TTCTAGAAGCTGA	-	-	TTCTAGAAGCTGA	TTCTAGAAGCTGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr6:43305942_43305954delTTCTAGAAGCTGA	ENST00000361428.2	-	10	5859_5871	c.5782_5794delTCAGCTTCTAGAA	c.(5782-5796)tcagcttctagaactfs	p.SASRT1928fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1928					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TACCTAGAAGTTCTAGAAGCTGATTCTGGAGCT	0.413																																							uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(5782-5796)TCAGCTTCTAGAACTfs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305942_43305954delTTCTAGAAGCTGA	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5782_5794delTCAGCTTCTAGAA	6.37:g.43305942_43305954delTTCTAGAAGCTGA	ENSP00000354964:p.Ser1928fs					ZNF318_uc003ouw.2_Intron	p.S1928fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5860_5872	-			1928_1932					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.5782_5794delTCAGCTTCTAGAA	CCDS4895.2																																																																																				0.413	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		27	138	NA	NA	NA	NA	NA	27	138	---	---	---	---
CTAGE6	340307	broad.mit.edu	37	7	143453350	143453353	+	Frame_Shift_Del	DEL	CCAA	CCAA	-			TCGA-49-4512-01A-21D-1855-08	TCGA-49-4512-11A-01D-1855-08	CCAA	CCAA	-	-	CCAA	CCAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fa6a60f5-8949-4e01-9435-d3117601627f	f76ef845-8a03-4b61-b1b2-3f0b4ae5a759	g.chr7:143453350_143453353delCCAA	ENST00000470691.2	-	1	1436_1439	c.1399_1402delTTGG	c.(1399-1404)ttggcafs	p.LA467fs	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	467						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					GTCCGAGCTGCCAACCAATTATCA	0.348																																							uc003wdk.3		NA																	0					0						c.(1399-1404)TTGGCAfs		CTAGE family, member 6																																				SO:0001589	frameshift_variant	340307					integral to membrane		g.chr7:143453350_143453353delCCAA	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1399_1402delTTGG	7.37:g.143453354_143453357delCCAA	ENSP00000474388:p.Leu467fs					uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron	p.L467fs	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN			1	1491_1494	-	Melanoma(164;0.0903)		467_468			Potential.		A4FU29|Q3ZCM5	Frame_Shift_Del	DEL	ENST00000470691.2	37	c.1399_1402delTTGG																																																																																					0.348	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		13	172	NA	NA	NA	NA	NA	13	172	---	---	---	---
