#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
SPON1	10418	broad.mit.edu	37	11	14278191	14278191	+	RNA	SNP	A	A	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr11:14278191A>T	ENST00000310358.7	+	0	1797							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.N420I(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GTACCTGACAATGTCGATGAT	0.418																																					p.M421L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1261T	11						.						156.0	151.0	152.0					11																	14278191		1874	4103	5977	14234767			10418	exon10			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14278191A>T			14234767	NM_006108	A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37		.	.	.	.	.	.	.	.	.	.	A	13.76	2.332023	0.41297	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	.	.	.	0.52501	D	0.999955	P	0.39748	0.686	B	0.36335	0.222	T	0.56866	-0.7908	7	0.33141	T	0.24	.	14.3757	0.66874	1.0:0.0:0.0:0.0	.	421	Q9HCB6	SPON1_HUMAN	I	420	.	ENSP00000309297:N420I	N	+	2	0	SPON1	14234767	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	4.752000	0.62176	2.279000	0.76181	0.533000	0.62120	AAT		0.418	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584	
MRGPRX1	259249	broad.mit.edu	37	11	18955712	18955712	+	Missense_Mutation	SNP	C	C	T	rs202061081		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr11:18955712C>T	ENST00000302797.3	-	1	844	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	207					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R207Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGTATCTTCCGGGATCCACA	0.498																																					p.R207Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620A	11						.	C	GLN/ARG	0,4388		0,0,2194	104.0	89.0	94.0		620	-2.3	0.0	11		94	2,8570		0,2,4284	no	missense	MRGPRX1	NM_147199.3	43	0,2,6478	TT,TC,CC		0.0233,0.0,0.0154	benign	207/323	18955712	2,12958	2194	4286	6480	18912288	SO:0001583	missense	259249	exon1				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.620G>A	11.37:g.18955712C>T	ENSP00000305766:p.Arg207Gln		18912288	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.629	-0.818091	0.02776	0.0	2.33E-4	ENSG00000170255	ENST00000302797	T	0.43294	0.95	2.28	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	1.116930	0.06879	N	0.802250	T	0.16981	0.0408	N	0.02854	-0.475	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.24764	-1.0151	10	0.17369	T	0.5	.	7.7996	0.29166	0.0:0.3329:0.0:0.6671	.	207	Q96LB2	MRGX1_HUMAN	Q	207	ENSP00000305766:R207Q	ENSP00000305766:R207Q	R	-	2	0	MRGPRX1	18912288	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.475000	0.06599	-0.623000	0.05618	0.491000	0.48974	CGG		0.498	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
OR52J3	119679	broad.mit.edu	37	11	5068577	5068577	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr11:5068577C>G	ENST00000380370.1	+	1	822	c.822C>G	c.(820-822)caC>caG	p.H274Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H274Q(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTACATTCACATTCTTGTTG	0.433																																					p.H274Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C822G	11						.						185.0	167.0	173.0					11																	5068577		2201	4298	6499	5025153	SO:0001583	missense	119679	exon1			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.822C>G	11.37:g.5068577C>G	ENSP00000369728:p.His274Gln		5025153	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206971	0.22205	.	.	ENSG00000205495	ENST00000380370	T	0.00051	8.81	4.19	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.00384	0.0012	M	0.83223	2.63	0.28293	N	0.923441	D	0.67145	0.996	D	0.75020	0.985	T	0.33854	-0.9852	10	0.87932	D	0	.	4.6387	0.12538	0.1787:0.6052:0.0:0.216	.	274	Q8NH60	O52J3_HUMAN	Q	274	ENSP00000369728:H274Q	ENSP00000369728:H274Q	H	+	3	2	OR52J3	5025153	0.001000	0.12720	0.996000	0.52242	0.116000	0.19942	-0.638000	0.05452	0.960000	0.38005	0.655000	0.94253	CAC		0.433	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916	
PAX6	5080	broad.mit.edu	37	11	31812352	31812352	+	Silent	SNP	C	C	T	rs369447790		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr11:31812352C>T	ENST00000379132.3	-	11	1369	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	PAX6_ENST00000379111.2_Silent_p.S363S|PAX6_ENST00000379115.4_Silent_p.S377S|PAX6_ENST00000241001.8_Silent_p.S363S|PAX6_ENST00000379123.5_Silent_p.S363S|PAX6_ENST00000419022.1_Silent_p.S377S|PAX6_ENST00000379107.2_Silent_p.S377S|PAX6_ENST00000379129.2_Silent_p.S377S			P26367	PAX6_HUMAN	paired box 6	363	Pro/Ser/Thr-rich.		S -> P (in PETAN). {ECO:0000269|PubMed:12721955}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S377S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCCCATTCACCGAAGGGCTGG	0.572									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.S363S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1089A	11						.	T	,,	1,4403	2.1+/-5.4	0,1,2201	98.0	86.0	90.0		1089,1089,1131	-2.0	1.0	11		90	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PAX6	NM_000280.3,NM_001127612.1,NM_001604.4	,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,	363/423,363/423,377/437	31812352	1,13001	2202	4299	6501	31768928	SO:0001819	synonymous_variant	5080	exon12	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1089G>A	11.37:g.31812352C>T			31768928	NM_001127612	Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	CCDS31451.1																																																																																				0.572	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
OR5M3	219482	broad.mit.edu	37	11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	rs142752109		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr11:56237921C>T	ENST00000312240.2	-	1	93	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R18H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398																																					p.R18H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53A	11						.	C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	79.0	69.0	72.0		53	-10.0	0.0	11	dbSNP_134	72	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR5M3	NM_001004742.2	29	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	benign	18/308	56237921	2,12990	2201	4295	6496	55994497	SO:0001583	missense	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.53G>A	11.37:g.56237921C>T	ENSP00000312208:p.Arg18His		55994497	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891453	0.02491	2.27E-4	1.16E-4	ENSG00000174937	ENST00000312240	T	0.01084	5.36	5.0	-10.0	0.00425	.	1.480890	0.04545	N	0.388897	T	0.00815	0.0027	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40646	-0.9552	10	0.27785	T	0.31	3.2324	13.3653	0.60680	0.0:0.1922:0.139:0.6688	.	18	Q8NGP4	OR5M3_HUMAN	H	18	ENSP00000312208:R18H	ENSP00000312208:R18H	R	-	2	0	OR5M3	55994497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.692000	0.00017	-3.524000	0.00147	-1.708000	0.00717	CGT		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
PEX5	5830	broad.mit.edu	37	12	7343093	7343094	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:7343093_7343094insC	ENST00000455147.2	+	3	700_701	c.120_121insC	c.(121-123)cccfs	p.P41fs	PEX5_ENST00000545220.1_Intron|RP11-273B20.3_ENST00000543061.1_RNA|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266563.5_Frame_Shift_Ins_p.P41fs|PEX5_ENST00000266564.3_Frame_Shift_Ins_p.P41fs|PEX5_ENST00000434354.2_Frame_Shift_Ins_p.P41fs|PEX5_ENST00000412720.2_Frame_Shift_Ins_p.P62fs|PEX5_ENST00000420616.2_Frame_Shift_Ins_p.P41fs	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	41					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.G43fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CTGGCCCCTGGCCCCCCGGAGC	0.658																																					p.W40fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.120_121insC	12						.																																			7234361	SO:0001589	frameshift_variant	5830	exon2			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.126dupC	12.37:g.7343099_7343099dupC	ENSP00000400647:p.Pro41fs		7234360	NM_001131023	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Frame_Shift_Ins	INS	ENST00000455147.2	37	CCDS44823.1																																																																																				0.658	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
CUX2	23316	broad.mit.edu	37	12	111776095	111776095	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:111776095C>T	ENST00000261726.6	+	20	3356	c.3202C>T	c.(3202-3204)Cgg>Tgg	p.R1068W	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1068					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R1068W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCAGGGCAGCGGCTGTTTGG	0.627																																					p.R1068W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3202T	12						.						44.0	50.0	48.0					12																	111776095		1946	4140	6086	110260478	SO:0001583	missense	23316	exon20			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3202C>T	12.37:g.111776095C>T	ENSP00000261726:p.Arg1068Trp		110260478	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652173	0.88056	.	.	ENSG00000111249	ENST00000261726	T	0.53857	0.6	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76961	-0.2765	10	0.87932	D	0	-31.6474	13.9403	0.64050	0.1518:0.8482:0.0:0.0	.	1068	O14529	CUX2_HUMAN	W	1068	ENSP00000261726:R1068W	ENSP00000261726:R1068W	R	+	1	2	CUX2	110260478	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.031000	0.49728	2.495000	0.84180	0.655000	0.94253	CGG		0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
RNFT2	84900	broad.mit.edu	37	12	117271725	117271725	+	Silent	SNP	C	C	T	rs578175959		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:117271725C>T	ENST00000257575.4	+	8	1244	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RNFT2_ENST00000407967.3_Silent_p.I337I|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.I337I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	337						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I337I(1)|p.I247I(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGGTCCTGATCGTTCTCTACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10613	0.0		0.0	False		,,,				2504	0.0				p.I337I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1011T	12						.						64.0	51.0	55.0					12																	117271725		2203	4300	6503	115756108	SO:0001819	synonymous_variant	84900	exon8			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1011C>T	12.37:g.117271725C>T			115756108	NM_032814	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																				0.607	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
AKAP3	10566	broad.mit.edu	37	12	4736221	4736221	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:4736221T>G	ENST00000545990.2	-	5	2371	c.1847A>C	c.(1846-1848)aAg>aCg	p.K616T	AKAP3_ENST00000228850.1_Missense_Mutation_p.K616T|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	616					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.K616T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCGGCACCTTGGGTTCAGG	0.488																																					p.K616T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1847C	12						.						64.0	63.0	63.0					12																	4736221		2203	4300	6503	4606482	SO:0001583	missense	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1847A>C	12.37:g.4736221T>G	ENSP00000440994:p.Lys616Thr		4606482	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413315	0.25465	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08896	3.04;3.04	5.87	5.87	0.94306	A-kinase anchor 110kDa, C-terminal (1);	0.471361	0.21606	N	0.071876	T	0.17280	0.0415	M	0.68317	2.08	0.09310	N	1	D	0.58268	0.982	P	0.52159	0.691	T	0.18398	-1.0338	10	0.49607	T	0.09	-10.3983	9.5312	0.39196	0.1568:0.0:0.0:0.8432	.	616	O75969	AKAP3_HUMAN	T	616	ENSP00000228850:K616T;ENSP00000440994:K616T	ENSP00000228850:K616T	K	-	2	0	AKAP3	4606482	0.947000	0.32204	0.602000	0.28890	0.048000	0.14542	1.802000	0.38853	2.242000	0.73789	0.533000	0.62120	AAG		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
KRT6B	3854	broad.mit.edu	37	12	52844355	52844355	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:52844355A>G	ENST00000252252.3	-	2	637	c.590T>C	c.(589-591)cTg>cCg	p.L197P		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	197	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTCCTGCAGCAGGGTCCACTT	0.552																																					p.L197P												.	.	0			c.T590C	12						.						70.0	78.0	75.0					12																	52844355		2203	4297	6500	51130622	SO:0001583	missense	3854	exon2			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.590T>C	12.37:g.52844355A>G	ENSP00000252252:p.Leu197Pro		51130622	NM_005555	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361157	0.61403	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75477	-0.94	2.91	1.76	0.24704	Filament (1);	0.000000	0.44688	D	0.000440	D	0.89993	0.6876	H	0.98849	4.35	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.89002	0.3422	10	0.87932	D	0	.	8.355	0.32324	0.9003:0.0:0.0997:0.0	.	197	P04259	K2C6B_HUMAN	P	197	ENSP00000252252:L197P	ENSP00000252252:L197P	L	-	2	0	KRT6B	51130622	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.031000	0.64134	0.532000	0.28657	0.373000	0.22412	CTG		0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555	
TMEM132B	114795	broad.mit.edu	37	12	126138477	126138477	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr12:126138477C>T	ENST00000299308.3	+	9	2466	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R332C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	820						integral component of membrane (GO:0016021)		p.R820C(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCCATAGAGCGCGAAGGAAA	0.498																																					p.R820C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2458T	12						.						68.0	70.0	69.0					12																	126138477		2004	4154	6158	124704430	SO:0001583	missense	114795	exon9			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2458C>T	12.37:g.126138477C>T	ENSP00000299308:p.Arg820Cys		124704430	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175204	0.38413	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10477	3.66;2.87	5.54	4.57	0.56435	.	0.432951	0.20730	N	0.086728	T	0.18635	0.0447	L	0.42245	1.32	0.49687	D	0.999811	D	0.71674	0.998	P	0.56700	0.804	T	0.00141	-1.1998	10	0.62326	D	0.03	.	11.0837	0.48074	0.4098:0.5902:0.0:0.0	.	820	Q14DG7	T132B_HUMAN	C	820;332	ENSP00000299308:R820C;ENSP00000440436:R332C	ENSP00000299308:R820C	R	+	1	0	TMEM132B	124704430	1.000000	0.71417	0.895000	0.35142	0.914000	0.54420	2.368000	0.44222	2.601000	0.87937	0.655000	0.94253	CGC		0.498	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
CRYL1	51084	broad.mit.edu	37	13	21006377	21006377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr13:21006377G>A	ENST00000298248.7	-	5	559	c.497C>T	c.(496-498)cCt>cTt	p.P166L	CRYL1_ENST00000382812.1_Missense_Mutation_p.P144L|CRYL1_ENST00000480748.1_5'UTR|MIR4499_ENST00000584834.1_RNA	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	166					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.P166L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CACTGTCGTAGGGGCCGTCTC	0.592																																					p.P166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	13						.						56.0	59.0	58.0					13																	21006377		2007	4156	6163	19904377	SO:0001583	missense	51084	exon5			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.497C>T	13.37:g.21006377G>A	ENSP00000298248:p.Pro166Leu		19904377	NM_015974	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020746	0.19433	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.78595	-1.19;-1.19	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.162599	0.56097	D	0.000036	T	0.75989	0.3925	M	0.64404	1.975	0.35170	D	0.771522	B;B	0.25390	0.125;0.055	B;B	0.29267	0.085;0.1	T	0.80728	-0.1253	10	0.72032	D	0.01	-9.7795	12.5686	0.56323	0.076:0.0:0.924:0.0	.	40;166	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	L	166;144	ENSP00000298248:P166L;ENSP00000372262:P144L	ENSP00000298248:P166L	P	-	2	0	CRYL1	19904377	1.000000	0.71417	0.360000	0.25837	0.549000	0.35272	3.648000	0.54410	2.533000	0.85409	0.491000	0.48974	CCT		0.592	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974	
CDK8	1024	broad.mit.edu	37	13	26923304	26923304	+	Silent	SNP	T	T	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr13:26923304T>A	ENST00000381527.3	+	3	803	c.300T>A	c.(298-300)gcT>gcA	p.A100A	CDK8_ENST00000536792.1_Silent_p.A100A	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A100A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTGACTATGCTGAACATGACC	0.418																																					p.A100A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T300A	13						.						194.0	172.0	180.0					13																	26923304		2203	4300	6503	25821304	SO:0001819	synonymous_variant	1024	exon3			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.300T>A	13.37:g.26923304T>A			25821304	NM_001260	Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	CCDS9317.1																																																																																				0.418	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		
WASF3	10810	broad.mit.edu	37	13	27216439	27216439	+	Missense_Mutation	SNP	G	G	C	rs145251421		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr13:27216439G>C	ENST00000335327.5	+	3	210	c.32G>C	c.(31-33)cGg>cCg	p.R11P	WASF3-AS1_ENST00000586418.1_RNA|WASF3_ENST00000361042.4_Missense_Mutation_p.R11P|WASF3-AS1_ENST00000413063.1_RNA|WASF3-AS1_ENST00000585599.1_RNA|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	11					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATTGAGCCCCGGCACTTGTGC	0.438																																					p.R11P												.	.	0			c.G32C	13						.						83.0	85.0	84.0					13																	27216439		2203	4300	6503	26114439	SO:0001583	missense	10810	exon3			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.32G>C	13.37:g.27216439G>C	ENSP00000335055:p.Arg11Pro		26114439	NM_006646	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770969	0.90108	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.47528	0.84;0.84	5.46	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	M	0.80616	2.505	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.905;0.905	T	0.71377	-0.4611	10	0.46703	T	0.11	-29.2068	15.503	0.75716	0.0:0.0:0.8602:0.1398	.	11;11	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	P	11	ENSP00000354325:R11P;ENSP00000335055:R11P	ENSP00000335055:R11P	R	+	2	0	WASF3	26114439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.242000	0.95408	1.284000	0.44531	0.585000	0.79938	CGG		0.438	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
NDRG2	57447	broad.mit.edu	37	14	21490017	21490017	+	Silent	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr14:21490017G>A	ENST00000556147.1	-	6	1306	c.366C>T	c.(364-366)gaC>gaT	p.D122D	NDRG2_ENST00000298684.5_Silent_p.D108D|NDRG2_ENST00000397844.2_Silent_p.D108D|NDRG2_ENST00000553503.1_Silent_p.D108D|NDRG2_ENST00000554104.1_Silent_p.D35D|NDRG2_ENST00000397858.1_Silent_p.D122D|NDRG2_ENST00000350792.3_Silent_p.D108D|NDRG2_ENST00000554143.1_Silent_p.D108D|NDRG2_ENST00000555158.1_Silent_p.D108D|NDRG2_ENST00000397856.3_Silent_p.D108D|NDRG2_ENST00000397855.3_Silent_p.D108D|NDRG2_ENST00000360463.3_Silent_p.D108D|NDRG2_ENST00000298687.5_Silent_p.D122D|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000397851.2_Silent_p.D122D|NDRG2_ENST00000403829.3_Silent_p.D118D|NDRG2_ENST00000397847.2_Silent_p.D122D|NDRG2_ENST00000397853.3_Silent_p.D122D|AL161668.5_ENST00000533984.1_lincRNA			Q9UN36	NDRG2_HUMAN	NDRG family member 2	122					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.D122D(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTGCAAGCTGGTCCAGAGATG	0.522																																					p.D108D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	14						.						100.0	94.0	96.0					14																	21490017		2203	4300	6503	20559857	SO:0001819	synonymous_variant	57447	exon6			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.366C>T	14.37:g.21490017G>A			20559857	NM_016250	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848059	0.32699	.	.	ENSG00000165795	ENST00000553563	T	0.23147	1.92	5.93	4.95	0.65309	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04242	-1.0966	5	.	.	.	-10.3567	9.0332	0.36271	0.1788:0.0:0.8212:0.0	.	.	.	.	S	103	ENSP00000451541:P103S	.	P	-	1	0	NDRG2	20559857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	1.369000	0.46134	0.650000	0.86243	CCA		0.522	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
SYNE2	23224	broad.mit.edu	37	14	64469653	64469653	+	Silent	SNP	A	A	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr14:64469653A>G	ENST00000344113.4	+	30	4214	c.4002A>G	c.(4000-4002)acA>acG	p.T1334T	SYNE2_ENST00000554584.1_Silent_p.T1334T|SYNE2_ENST00000358025.3_Silent_p.T1334T|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1334					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T1334T(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCTCAGAACAGCTAAACTCT	0.423																																					p.T1334T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4002G	14						.						65.0	64.0	65.0					14																	64469653		1873	4114	5987	63539406	SO:0001819	synonymous_variant	23224	exon30			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4002A>G	14.37:g.64469653A>G			63539406	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SIPA1L1	26037	broad.mit.edu	37	14	72055487	72055487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr14:72055487C>T	ENST00000555818.1	+	2	1246	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	300					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R300C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGTAAATTGCGCAATGCCAA	0.443																																					p.R300C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	14						.						65.0	70.0	68.0					14																	72055487		2203	4300	6503	71125240	SO:0001583	missense	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.898C>T	14.37:g.72055487C>T	ENSP00000450832:p.Arg300Cys		71125240	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713481	0.68730	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.45276	0.9;0.9;0.9	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.95;0.996;0.99	T	0.68398	-0.5419	10	0.87932	D	0	-23.9997	20.6593	0.99626	0.0:1.0:0.0:0.0	.	300;300;300	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	300	ENSP00000370630:R300C;ENSP00000450832:R300C;ENSP00000351352:R300C	ENSP00000351352:R300C	R	+	1	0	SIPA1L1	71125240	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.656000	0.61483	2.885000	0.99019	0.655000	0.94253	CGC		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
OCA2	4948	broad.mit.edu	37	15	28270047	28270047	+	Splice_Site	SNP	G	G	A	rs538576672	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr15:28270047G>A	ENST00000354638.3	-	5	672	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	OCA2_ENST00000382996.2_Splice_Site_p.R173C|OCA2_ENST00000353809.5_Splice_Site_p.R173C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	173					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.R173C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGCACACAGCGCCTGCAAGAG	0.532									Oculocutaneous Albinism				G|||	2	0.000399361	0.0	0.0	5008	,	,		20734	0.0		0.0	False		,,,				2504	0.002				p.R173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	15						.						121.0	103.0	109.0					15																	28270047		2203	4300	6503	25943642	SO:0001630	splice_region_variant	4948	exon5	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.516-1C>T	15.37:g.28270047G>A			25943642	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	6.236	0.411595	0.11812	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	T;T;T;D;T	0.91521	1.09;1.09;1.09;-2.86;1.09	5.61	-5.07	0.02938	.	0.628799	0.17840	N	0.160245	T	0.65101	0.2659	N	0.00583	-1.355	0.28379	N	0.919645	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.60311	-0.7288	10	0.38643	T	0.18	-0.2246	8.1211	0.30971	0.7003:0.0:0.1435:0.1562	.	173;173	Q04671-2;Q04671	.;P_HUMAN	C	173	ENSP00000346659:R173C;ENSP00000261276:R173C;ENSP00000372457:R173C;ENSP00000414425:R173C;ENSP00000415431:R173C	ENSP00000261276:R173C	R	-	1	0	OCA2	25943642	0.345000	0.24835	0.547000	0.28179	0.076000	0.17211	-1.104000	0.03326	-1.363000	0.02164	-0.143000	0.13931	CGC		0.532	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Missense_Mutation
VPS18	57617	broad.mit.edu	37	15	41192393	41192393	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr15:41192393G>T	ENST00000220509.5	+	4	1716	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	459					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.K459N(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTGCCCTCAAGTTCCTGGAGG	0.612																																					p.K459N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1377T	15						.						58.0	63.0	61.0					15																	41192393		2203	4300	6503	38979685	SO:0001583	missense	57617	exon4			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1377G>T	15.37:g.41192393G>T	ENSP00000220509:p.Lys459Asn		38979685	NM_020857	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784603	0.31593	.	.	ENSG00000104142	ENST00000220509	T	0.22134	1.97	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.89715	3.055	0.80722	D	1	B	0.19935	0.04	B	0.32677	0.15	T	0.29701	-1.0003	10	0.54805	T	0.06	-40.082	10.3402	0.43873	0.1509:0.0:0.8491:0.0	.	459	Q9P253	VPS18_HUMAN	N	459	ENSP00000220509:K459N	ENSP00000220509:K459N	K	+	3	2	VPS18	38979685	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.605000	0.46283	1.353000	0.45828	0.561000	0.74099	AAG		0.612	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
SLC28A2	9153	broad.mit.edu	37	15	45557827	45557827	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr15:45557827A>G	ENST00000347644.3	+	9	892	c.827A>G	c.(826-828)tAc>tGc	p.Y276C	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	276					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.Y276C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TCCATTCTCTACTACCTGGGC	0.453																																					p.Y276C	NSCLC(92;493 1501 26361 28917 47116)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A827G	15						.						276.0	212.0	234.0					15																	45557827		2198	4298	6496	43345119	SO:0001583	missense	9153	exon9			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.827A>G	15.37:g.45557827A>G	ENSP00000315006:p.Tyr276Cys		43345119	NM_004212	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780322	0.70222	.	.	ENSG00000137860	ENST00000347644	T	0.30182	1.54	5.8	4.68	0.58851	Nucleoside recognition (1);	0.055514	0.85682	D	0.000000	T	0.62146	0.2404	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68561	-0.5376	10	0.87932	D	0	-9.1387	10.1179	0.42603	0.921:0.0:0.079:0.0	.	276	O43868	S28A2_HUMAN	C	276	ENSP00000315006:Y276C	ENSP00000315006:Y276C	Y	+	2	0	SLC28A2	43345119	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	5.348000	0.66004	1.019000	0.39547	0.533000	0.62120	TAC		0.453	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
IGDCC3	9543	broad.mit.edu	37	15	65621257	65621257	+	Missense_Mutation	SNP	G	G	A	rs200034167	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr15:65621257G>A	ENST00000327987.4	-	14	2686	c.2435C>T	c.(2434-2436)tCg>tTg	p.S812L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	812					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.S812L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTACTGTTCCGAGTGAGCTGG	0.632																																					p.S812L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2435T	15						.						26.0	31.0	29.0					15																	65621257		2159	4251	6410	63408310	SO:0001583	missense	9543	exon14			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2435C>T	15.37:g.65621257G>A	ENSP00000332773:p.Ser812Leu		63408310	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	2.026	-0.423551	0.04734	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66815	-0.23	5.34	-1.46	0.08800	.	.	.	.	.	T	0.46658	0.1404	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37526	-0.9702	9	0.87932	D	0	1.3285	6.2528	0.20856	0.3553:0.3442:0.3005:0.0	.	812	Q8IVU1	IGDC3_HUMAN	L	812;635	ENSP00000332773:S812L	ENSP00000332773:S812L	S	-	2	0	IGDCC3	63408310	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.537000	0.00939	-0.259000	0.09432	-0.142000	0.14014	TCG		0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
CRAMP1L	57585	broad.mit.edu	37	16	1691140	1691140	+	Splice_Site	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr16:1691140G>A	ENST00000397412.3	+	6	878	c.779G>A	c.(778-780)tGt>tAt	p.C260Y	LA16c-431H6.6_ENST00000454337.1_Splice_Site_p.L64L|CRAMP1L_ENST00000436138.3_Splice_Site_p.C257Y|CRAMP1L_ENST00000293925.5_Splice_Site_p.C260Y			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	260						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C260Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCATTTAAAGGTATGGATGAC	0.378																																					p.C260Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779A	16						.						110.0	108.0	109.0					16																	1691140		1864	4110	5974	1631141	SO:0001630	splice_region_variant	57585	exon5			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.779-1G>A	16.37:g.1691140G>A			1631141	NM_020825	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622691	0.28889	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.204699	0.43260	D	0.000583	T	0.58366	0.2117	N	0.14661	0.345	0.80722	D	1	D	0.64830	0.994	P	0.59595	0.86	T	0.57596	-0.7784	8	.	.	.	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	260	Q96RY5	CRML_HUMAN	Y	260;260;257	.	.	C	+	2	0	CRAMP1L	1631141	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.988000	0.76212	2.567000	0.86603	0.561000	0.74099	TGT		0.378	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4		Missense_Mutation
NLRC5	84166	broad.mit.edu	37	16	57088730	57088730	+	Missense_Mutation	SNP	C	C	T	rs370896719		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr16:57088730C>T	ENST00000262510.6	+	25	3799	c.3574C>T	c.(3574-3576)Cgg>Tgg	p.R1192W	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1192W|NLRC5_ENST00000436936.1_Missense_Mutation_p.R1192W|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1192W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1192					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.R1192W(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTGTGTCCACGGGTTAAAAA	0.582																																					p.R1192W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3574T	16						.	C	TRP/ARG	0,4396		0,0,2198	137.0	139.0	138.0		3574	0.4	0.0	16		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRC5	NM_032206.3	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	1192/1867	57088730	1,12995	2198	4300	6498	55646231	SO:0001583	missense	84166	exon25			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3574C>T	16.37:g.57088730C>T	ENSP00000262510:p.Arg1192Trp		55646231	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	De_novo_Start_OutOfFrame	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.100|9.100	1.003932|1.003932	0.19199|0.19199	0.0|0.0	1.16E-4|1.16E-4	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54071|.	0.59;5.45;0.59;5.45;0.59;0.59|.	4.74|4.74	0.382|0.382	0.16234|0.16234	.|.	.|.	.|.	.|.	.|.	T|T	0.24812|0.24812	0.0602|0.0602	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.30824|.	0.102;0.296;0.191;0.016;0.15|.	B;B;B;B;B|.	0.23716|.	0.016;0.048;0.048;0.004;0.022|.	T|T	0.24476|0.24476	-1.0159|-1.0159	9|5	0.36615|.	T|.	0.2|.	.|.	3.8733|3.8733	0.09045|0.09045	0.3295:0.4873:0.0:0.1833|0.3295:0.4873:0.0:0.1833	.|.	877;1192;1192;1192;1192|.	Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;.;NLRC5_HUMAN|.	W|M	1192;1192;1192;636;1192;669;461|944	ENSP00000262510:R1192W;ENSP00000308886:R1192W;ENSP00000389739:R1192W;ENSP00000441727:R1192W;ENSP00000441597:R669W;ENSP00000440153:R461W|.	ENSP00000262510:R1192W|.	R|T	+|+	1|2	2|0	NLRC5|NLRC5	55646231|55646231	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.062000|0.062000	0.15995|0.15995	0.344000|0.344000	0.19962|0.19962	-0.053000|-0.053000	0.13289|0.13289	-1.176000|-1.176000	0.01726|0.01726	CGG|ACG		0.582	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
CNGB1	1258	broad.mit.edu	37	16	57951332	57951332	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr16:57951332C>A	ENST00000251102.8	-	21	2066	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	CNGB1_ENST00000564448.1_Missense_Mutation_p.W663L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	669					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.W669L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCAACAGTTCCAATTCCAGGC	0.567																																					p.W669L	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2006T	16						.						120.0	125.0	123.0					16																	57951332		2105	4218	6323	56508833	SO:0001583	missense	1258	exon21			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2006G>T	16.37:g.57951332C>A	ENSP00000251102:p.Trp669Leu		56508833	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894594	0.72639	.	.	ENSG00000070729	ENST00000251102	T	0.10668	2.85	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.18467	0.0443	M	0.73319	2.225	0.80722	D	1	B;B	0.20052	0.016;0.041	B;B	0.22880	0.026;0.042	T	0.02009	-1.1230	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	41;669	Q14028-2;Q14028	.;CNGB1_HUMAN	L	669	ENSP00000251102:W669L	ENSP00000251102:W669L	W	-	2	0	CNGB1	56508833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.749000	0.62155	2.894000	0.99253	0.655000	0.94253	TGG		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R175H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,0 	.	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	c.G524A	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578	.						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CETN1	1068	broad.mit.edu	37	18	580537	580537	+	Silent	SNP	C	C	T	rs144514549		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr18:580537C>T	ENST00000327228.3	+	1	171	c.129C>T	c.(127-129)gaC>gaT	p.D43D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	43	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.D43D(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCGACGTGGACGGAAGTGGGA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16870	0.0		0.0	False		,,,				2504	0.0				p.D43D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C129T	18						.	C		11,4395	20.2+/-43.8	0,11,2192	77.0	59.0	65.0		129	-2.1	0.0	18	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	CETN1	NM_004066.1		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		43/173	580537	11,12995	2203	4300	6503	570537	SO:0001819	synonymous_variant	1068	exon1			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.129C>T	18.37:g.580537C>T			570537	NM_004066	B2R536	Silent	SNP	ENST00000327228.3	37	CCDS11820.1																																																																																				0.562	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066	
LAMA1	284217	broad.mit.edu	37	18	7044818	7044818	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr18:7044818C>G	ENST00000389658.3	-	7	972	c.879G>C	c.(877-879)gaG>gaC	p.E293D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	293	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E293D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGTATTATGCTCACATTGAC	0.453																																					p.E293D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G879C	18						.						116.0	111.0	113.0					18																	7044818		2203	4300	6503	7034818	SO:0001583	missense	284217	exon7			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.879G>C	18.37:g.7044818C>G	ENSP00000374309:p.Glu293Asp		7034818	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897810	0.52227	.	.	ENSG00000101680	ENST00000389658	T	0.63913	-0.07	4.97	-4.47	0.03525	EGF-like, laminin (4);	0.063251	0.64402	D	0.000011	T	0.67088	0.2856	M	0.79805	2.47	0.35872	D	0.828315	P	0.52692	0.955	P	0.51701	0.677	T	0.73569	-0.3941	10	0.46703	T	0.11	.	13.1259	0.59354	0.0:0.4691:0.0:0.5309	.	293	P25391	LAMA1_HUMAN	D	293	ENSP00000374309:E293D	ENSP00000374309:E293D	E	-	3	2	LAMA1	7034818	0.039000	0.19947	0.551000	0.28230	0.297000	0.27493	-0.746000	0.04829	-1.010000	0.03396	-0.140000	0.14226	GAG		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
IER3IP1	51124	broad.mit.edu	37	18	44682584	44682584	+	Silent	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr18:44682584G>A	ENST00000256433.3	-	3	309	c.213C>T	c.(211-213)aaC>aaT	p.N71N	IER3IP1_ENST00000588705.1_Silent_p.N71N	NM_016097.4	NP_057181.1			immediate early response 3 interacting protein 1									p.N71N(1)		large_intestine(1)	1						TTGCAATTGAGTTTACTATTA	0.303																																					p.N71N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	18						.						69.0	69.0	69.0					18																	44682584		2200	4293	6493	42936582	SO:0001819	synonymous_variant	51124	exon3			AF371963	CCDS11933.1	18q12	2006-06-23			ENSG00000134049	ENSG00000134049			18550	protein-coding gene	gene with protein product		609382				15276200	Standard	NM_016097		Approved		uc002lcu.3	Q9Y5U9	OTTHUMG00000132650	ENST00000256433.3:c.213C>T	18.37:g.44682584G>A			42936582	NM_016097		Silent	SNP	ENST00000256433.3	37	CCDS11933.1																																																																																				0.303	IER3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255901.1	NM_016097	
PRAMEF4	400735	broad.mit.edu	37	1	12943042	12943042	+	Silent	SNP	C	C	T	rs148309168	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr1:12943042C>T	ENST00000235349.5	-	2	244	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	58					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.V58V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGACTGCACCATCAGCT	0.602													c|||	93	0.0185703	0.0681	0.0043	5008	,	,		15076	0.0		0.0	False		,,,				2504	0.0				p.V58V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	1						.						49.0	57.0	54.0					1																	12943042		2188	4268	6456	12865629	SO:0001819	synonymous_variant	400735	exon2				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.174G>A	1.37:g.12943042C>T			12865629	NM_001009611	Q5LJB5	Silent	SNP	ENST00000235349.5	37	CCDS30592.1																																																																																				0.602	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.G13R			Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	NRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,-2 	.	106	Substitution - Missense(106)	haematopoietic_and_lymphoid_tissue(66)|skin(24)|large_intestine(6)|stomach(4)|thyroid(2)|soft_tissue(1)|urinary_tract(1)|autonomic_ganglia(1)|NS(1)	c.G37C	1						.						207.0	184.0	192.0					1																	115258745		2203	4300	6503	115060268	SO:0001583	missense	4893	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.37G>C	1.37:g.115258745C>G	ENSP00000358548:p.Gly13Arg		115060268	NM_002524	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675403	0.96764	.	.	ENSG00000213281	ENST00000369535	T	0.73575	-0.76	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	D	0.85204	0.5643	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.85665	0.1291	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	R	13	ENSP00000358548:G13R	ENSP00000358548:G13R	G	-	1	0	NRAS	115060268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
NOL9	79707	broad.mit.edu	37	1	6610557	6610557	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr1:6610557G>C	ENST00000377705.5	-	2	547	c.515C>G	c.(514-516)tCt>tGt	p.S172C		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	172					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.S172C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCAAGCAAGAGTGGGTATA	0.473																																					p.S172C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C515G	1						.						141.0	140.0	140.0					1																	6610557		2203	4300	6503	6533144	SO:0001583	missense	79707	exon2			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.515C>G	1.37:g.6610557G>C	ENSP00000366934:p.Ser172Cys		6533144	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066393	0.07273	.	.	ENSG00000162408	ENST00000377705	T	0.48836	0.8	5.23	-1.96	0.07525	.	0.692111	0.12905	N	0.429445	T	0.36799	0.0980	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34229	-0.9837	10	0.45353	T	0.12	-18.7335	14.8256	0.70110	0.0:0.6809:0.2089:0.1103	.	172	Q5SY16	NOL9_HUMAN	C	172	ENSP00000366934:S172C	ENSP00000366934:S172C	S	-	2	0	NOL9	6533144	0.058000	0.20735	0.000000	0.03702	0.001000	0.01503	1.148000	0.31614	-0.153000	0.11137	-0.315000	0.08773	TCT		0.473	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
SZT2	23334	broad.mit.edu	37	1	43909339	43909339	+	Silent	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr1:43909339G>A	ENST00000562955.1	+	61	8526	c.8526G>A	c.(8524-8526)tcG>tcA	p.S2842S	SZT2_ENST00000372442.1_Silent_p.S2000S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2899					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.S2000S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGATGTGTCGCCCCCGGGAG	0.572																																					p.S2000S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6000A	1						.						109.0	112.0	111.0					1																	43909339		2203	4300	6503	43681926	SO:0001819	synonymous_variant	23334	exon47			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8526G>A	1.37:g.43909339G>A			43681926	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
OR2M2	391194	broad.mit.edu	37	1	248343652	248343652	+	Missense_Mutation	SNP	G	G	A	rs142698993		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr1:248343652G>A	ENST00000359682.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTATGACCGCTATATTGCT	0.403													g|||	1	0.000199681	0.0	0.0	5008	,	,		19986	0.0		0.0	False		,,,				2504	0.001				p.R122H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365A	1						.	G	HIS/ARG	0,4406		0,0,2203	201.0	212.0	208.0		365	0.9	0.0	1	dbSNP_134	208	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2M2	NM_001004688.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	122/348	248343652	2,13004	2203	4300	6503	246410275	SO:0001583	missense	391194	exon1			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.365G>A	1.37:g.248343652G>A	ENSP00000352710:p.Arg122His		246410275	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609100	0.28623	0.0	2.33E-4	ENSG00000198601	ENST00000359682	T	0.77489	-1.1	1.88	0.91	0.19337	GPCR, rhodopsin-like superfamily (1);	0.274743	0.19399	U	0.115229	T	0.78175	0.4242	M	0.91300	3.195	0.22142	N	0.999332	B	0.28291	0.206	B	0.21546	0.035	T	0.71076	-0.4697	10	0.62326	D	0.03	.	8.1932	0.31381	0.1337:0.0:0.8663:0.0	.	122	Q96R28	OR2M2_HUMAN	H	122	ENSP00000352710:R122H	ENSP00000352710:R122H	R	+	2	0	OR2M2	246410275	0.976000	0.34144	0.000000	0.03702	0.000000	0.00434	5.220000	0.65267	0.142000	0.18901	-0.391000	0.06502	CGC		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
TSHZ2	128553	broad.mit.edu	37	20	51870105	51870105	+	Silent	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr20:51870105C>T	ENST00000371497.5	+	2	995	c.108C>T	c.(106-108)agC>agT	p.S36S	TSHZ2_ENST00000329613.6_Silent_p.S33S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.S33S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	36					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S36S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaCAGCGGTTCAGTAG	0.527																																					p.S36S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	20						.						64.0	61.0	62.0					20																	51870105		2203	4300	6503	51303512	SO:0001819	synonymous_variant	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.108C>T	20.37:g.51870105C>T			51303512	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	CCDS33490.1																																																																																				0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
NRXN1	9378	broad.mit.edu	37	2	50765765	50765766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:50765765_50765766insT	ENST00000406316.2	-	10	3244_3245	c.1768_1769insA	c.(1768-1770)tctfs	p.S590fs	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Frame_Shift_Ins_p.S630fs|NRXN1_ENST00000401669.2_Frame_Shift_Ins_p.S590fs|NRXN1_ENST00000405472.3_Frame_Shift_Ins_p.S582fs|NRXN1_ENST00000406859.3_Frame_Shift_Ins_p.S590fs|NRXN1_ENST00000402717.3_Frame_Shift_Ins_p.S582fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	590	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S631fs*14(1)|p.S590fs*14(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTGTTGACAGAAATGGTACCT	0.446																																					p.S590fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1769_1770insA	2						.																																			50619270	SO:0001589	frameshift_variant	9378	exon10			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1768_1769insA	2.37:g.50765765_50765766insT	ENSP00000384311:p.Ser590fs		50619269	NM_004801	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Ins	INS	ENST00000406316.2	37	CCDS54360.1																																																																																				0.446	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NCKAP5	344148	broad.mit.edu	37	2	133636476	133636476	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:133636476G>A	ENST00000409261.1	-	9	966	c.593C>T	c.(592-594)gCg>gTg	p.A198V	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A198V|NCKAP5_ENST00000405974.3_Missense_Mutation_p.A198V|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A198V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	198								p.A198V(1)|p.A37V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAAAGCCAACGCTGAATTCTC	0.388																																					p.A198V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C593T	2						.						150.0	142.0	144.0					2																	133636476		1969	4145	6114	133352946	SO:0001583	missense	344148	exon9			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.593C>T	2.37:g.133636476G>A	ENSP00000387128:p.Ala198Val		133352946	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555853	0.45487	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.55760	2.46;0.5;2.46;0.5	5.53	5.53	0.82687	.	0.000000	0.30185	U	0.010211	T	0.63686	0.2532	L	0.31065	0.9	0.34611	D	0.717611	D;B	0.89917	1.0;0.032	D;B	0.85130	0.997;0.018	T	0.72893	-0.4154	10	0.87932	D	0	.	17.6509	0.88163	0.0:0.0:1.0:0.0	.	198;198	O14513-2;O14513	.;NCKP5_HUMAN	V	198	ENSP00000387128:A198V;ENSP00000386952:A198V;ENSP00000380603:A198V;ENSP00000385692:A198V	ENSP00000380603:A198V	A	-	2	0	NCKAP5	133352946	1.000000	0.71417	0.987000	0.45799	0.668000	0.39293	7.151000	0.77411	2.628000	0.89032	0.561000	0.74099	GCG		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
SCN3A	6328	broad.mit.edu	37	2	165947256	165947256	+	Missense_Mutation	SNP	C	C	T	rs3731762	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:165947256C>T	ENST00000360093.3	-	28	5898	c.5407G>A	c.(5407-5409)Gat>Aat	p.D1803N	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.D286N|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1754N|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1803N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1803			D -> N (in dbSNP:rs3731762).		membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1803N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGGTCGCATCGGGATCAAAC	0.458													C|||	13	0.00259585	0.0	0.0	5008	,	,		19451	0.0109		0.0	False		,,,				2504	0.002				p.D1803N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5407A	2						.						122.0	123.0	123.0					2																	165947256		2203	4300	6503	165655502	SO:0001583	missense	6328	exon28			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5407G>A	2.37:g.165947256C>T	ENSP00000353206:p.Asp1803Asn		165655502	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	14.01	2.407094	0.42715	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.23532	0.0569	L	0.47190	1.495	0.45502	D	0.998466	B;D;B	0.76494	0.004;0.999;0.085	B;D;B	0.83275	0.006;0.996;0.029	T	0.00092	-1.2082	10	0.66056	D	0.02	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	rs3731762;rs52799048;rs3731762	1754;1754;1803	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1803;1803;1754;286	ENSP00000353206:D1803N;ENSP00000283254:D1803N;ENSP00000386726:D1754N;ENSP00000439920:D286N	ENSP00000283254:D1803N	D	-	1	0	SCN3A	165655502	0.984000	0.35163	0.963000	0.40424	0.983000	0.72400	2.672000	0.46850	2.941000	0.99782	0.655000	0.94253	GAT		0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
HNRNPA3	220988	broad.mit.edu	37	2	178083808	178083808	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:178083808T>A	ENST00000392524.2	+	9	1242	c.1005T>A	c.(1003-1005)taT>taA	p.Y335*	HNRNPA3_ENST00000435711.1_Nonsense_Mutation_p.Y335*|HNRNPA3_ENST00000411529.2_Nonsense_Mutation_p.Y313*			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	335	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y335*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TTGGAAATTATAGTGGACAAC	0.398																																					p.Y335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1005A	2						.						93.0	101.0	98.0					2																	178083808		2203	4298	6501	177792054	SO:0001587	stop_gained	220988	exon9			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.1005T>A	2.37:g.178083808T>A	ENSP00000376309:p.Tyr335*		177792054	NM_194247	D3DPF4|Q53RW7|Q6URK5	Nonsense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	t	33	5.211054	0.95069	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	.	.	.	4.73	-6.76	0.01732	.	0.000000	0.40554	U	0.001067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9898	0.89165	0.0:0.7267:0.0:0.2733	.	.	.	.	X	335;313;279;280;335;72	.	ENSP00000376309:Y335X	Y	+	3	2	HNRNPA3	177792054	0.075000	0.21258	0.934000	0.37439	0.998000	0.95712	-0.576000	0.05854	-1.290000	0.02372	0.473000	0.43528	TAT		0.398	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
TTN	7273	broad.mit.edu	37	2	179440531	179440531	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:179440531C>A	ENST00000591111.1	-	276	65629	c.65405G>T	c.(65404-65406)cGg>cTg	p.R21802L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14378L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14570L|TTN_ENST00000589042.1_Missense_Mutation_p.R23443L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14503L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20875L|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21802	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R20873Q(1)|p.R14503Q(1)|p.R14378Q(1)|p.R14570Q(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)			GTCTGTAGGCCGCAGGTTGAG	0.502																																					p.G14378C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G43132T	2						.						94.0	99.0	97.0					2																	179440531		2103	4239	6342	179148777	SO:0001583	missense	7273	exon154			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.65405G>T	2.37:g.179440531C>A	ENSP00000465570:p.Arg21802Leu		179148777	NM_003319	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	10.71	1.428187	0.25726	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.66	3.88	0.44766	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48874	0.1524	L	0.49256	1.55	0.35702	D	0.81568	B;B;B;B	0.29612	0.251;0.251;0.251;0.251	B;B;B;B	0.29077	0.098;0.098;0.098;0.098	T	0.56655	-0.7943	9	0.87932	D	0	.	6.9044	0.24301	0.0:0.6193:0.0:0.3807	.	14378;14503;14570;21802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20875;14378;14570;14503;14376	ENSP00000343764:R20875L;ENSP00000434586:R14378L;ENSP00000340554:R14570L;ENSP00000352154:R14503L	ENSP00000340554:R14570L	R	-	2	0	TTN	179148777	1.000000	0.71417	0.880000	0.34516	0.782000	0.44232	2.760000	0.47581	0.770000	0.33336	0.650000	0.86243	CGG		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SDPR	8436	broad.mit.edu	37	2	192700688	192700688	+	Silent	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:192700688G>A	ENST00000304141.4	-	2	1568	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P		NM_004657.5	NP_004648.1			serum deprivation response									p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CGGGCTGCACGGGGTCCCCAT	0.632																																					p.P413P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239T	2						.						43.0	44.0	44.0					2																	192700688		2203	4300	6503	192408933	SO:0001819	synonymous_variant	8436	exon2			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1239C>T	2.37:g.192700688G>A			192408933	NM_004657		Silent	SNP	ENST00000304141.4	37	CCDS2313.1																																																																																				0.632	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
APOB	338	broad.mit.edu	37	2	21238130	21238130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:21238130C>T	ENST00000233242.1	-	23	3638	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1171					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E1171K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTCTCTTCATCTGAAAAT	0.408																																					p.E1171K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3511A	2						.						101.0	94.0	96.0					2																	21238130		2203	4300	6503	21091635	SO:0001583	missense	338	exon23			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3511G>A	2.37:g.21238130C>T	ENSP00000233242:p.Glu1171Lys		21091635	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681198	0.47886	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.48	3.66	0.41972	.	1.102230	0.06827	N	0.793276	T	0.00875	0.0029	L	0.51422	1.61	0.80722	D	1	P	0.38922	0.651	B	0.27887	0.084	T	0.62530	-0.6835	10	0.32370	T	0.25	.	5.0218	0.14365	0.1468:0.6166:0.0:0.2366	.	1171	P04114	APOB_HUMAN	K	1171	ENSP00000233242:E1171K	ENSP00000233242:E1171K	E	-	1	0	APOB	21091635	0.998000	0.40836	0.998000	0.56505	0.980000	0.70556	0.451000	0.21779	0.789000	0.33779	0.650000	0.86243	GAA		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
GTF3C2	2976	broad.mit.edu	37	2	27565767	27565767	+	Silent	SNP	A	A	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:27565767A>T	ENST00000359541.2	-	3	924	c.495T>A	c.(493-495)tcT>tcA	p.S165S	GTF3C2_ENST00000264720.3_Silent_p.S165S|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000587586.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	165					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.S165S(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGATTGAGATTCTGGCC	0.562																																					p.S165S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T495A	2						.						67.0	70.0	69.0					2																	27565767		2203	4300	6503	27419271	SO:0001819	synonymous_variant	2976	exon3			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.495T>A	2.37:g.27565767A>T			27419271	NM_001035521	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1																																																																																				0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
ACVR2A	92	broad.mit.edu	37	2	148683711	148683713	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	ATT	ATT	ATT	-	ATT	ATT	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:148683711_148683713delATT	ENST00000241416.7	+	10	1964_1966	c.1328_1330delATT	c.(1327-1332)gattat>gat	p.Y444del	ACVR2A_ENST00000404590.1_In_Frame_Del_p.Y444del|ACVR2A_ENST00000535787.1_In_Frame_Del_p.Y336del|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	444	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.Y444delY(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTTTAAGAGATTATTGGCAGAA	0.355																																					p.443_444del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1328_1330del	2						.																																			148400183	SO:0001651	inframe_deletion	92	exon10				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1328_1330delATT	2.37:g.148683714_148683716delATT	ENSP00000241416:p.Tyr444del		148400181	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	In_Frame_Del	DEL	ENST00000241416.7	37	CCDS33301.1																																																																																				0.355	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
MAP2	4133	broad.mit.edu	37	2	210559702	210559702	+	Silent	SNP	C	C	T	rs570922955		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr2:210559702C>T	ENST00000360351.4	+	7	3314	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.S932S|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	936					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S936S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAGAAGCATCCGCGCATATCT	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21942	0.0		0.0	False		,,,				2504	0.0				p.S936S	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2808T	2						.						88.0	92.0	90.0					2																	210559702		2203	4300	6503	210267947	SO:0001819	synonymous_variant	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2808C>T	2.37:g.210559702C>T			210267947	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
FANCD2	2177	broad.mit.edu	37	3	10076915	10076915	+	Nonsense_Mutation	SNP	C	C	T	rs368848371		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr3:10076915C>T	ENST00000419585.1	+	6	597	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	FANCD2_ENST00000431693.1_Nonsense_Mutation_p.Q146*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.Q146*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.Q146*|FANCD2_ENST00000438741.1_3'UTR|RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.Q146*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	146	Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.Q146*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACATACTGCAGGTAAGACT	0.383			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.Q146X		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C436T	3						.	C	stop/GLN,stop/GLN	0,4406		0,0,2203	128.0	120.0	123.0		436,436	5.8	1.0	3		123	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FANCD2	NM_001018115.1,NM_033084.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	146/1452,146/1472	10076915	1,13005	2203	4300	6503	10051915	SO:0001587	stop_gained	2177	exon6	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.436C>T	3.37:g.10076915C>T	ENSP00000398754:p.Gln146*		10051915	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837526	0.97009	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.6151	0.76760	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000287647:Q146X	Q	+	1	0	FANCD2	10051915	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.929000	0.70096	2.761000	0.94854	0.650000	0.86243	CAG		0.383	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
CACNA2D3	55799	broad.mit.edu	37	3	54786634	54786634	+	Silent	SNP	C	C	A	rs371907159		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr3:54786634C>A	ENST00000474759.1	+	12	1224	c.1176C>A	c.(1174-1176)atC>atA	p.I392I	CACNA2D3_ENST00000490478.1_Silent_p.I298I|CACNA2D3_ENST00000415676.2_Silent_p.I392I|CACNA2D3_ENST00000288197.5_Silent_p.I392I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	392	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I392I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGGTTCGCATCTTCACATACC	0.517																																					p.I392I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1176A	3						.						117.0	120.0	119.0					3																	54786634		2175	4261	6436	54761674	SO:0001819	synonymous_variant	55799	exon12			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1176C>A	3.37:g.54786634C>A			54761674	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.517	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
ADH1B	125	broad.mit.edu	37	4	100237251	100237251	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr4:100237251A>G	ENST00000305046.8	-	5	438	c.371T>C	c.(370-372)cTg>cCg	p.L124P	ADH1B_ENST00000394887.3_Missense_Mutation_p.L84P|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	124					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.L124P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCATCCTGCAGGGTCCCCCG	0.542																																					p.L124P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T371C	4						.						71.0	69.0	70.0					4																	100237251		2203	4300	6503	100456274	SO:0001583	missense	125	exon5			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.371T>C	4.37:g.100237251A>G	ENSP00000306606:p.Leu124Pro		100456274	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353016	0.82132	.	.	ENSG00000196616	ENST00000305046;ENST00000394887	T;T	0.03635	3.86;4.44	3.96	3.96	0.45880	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.334072	0.31709	N	0.007181	T	0.09949	0.0244	L	0.31207	0.915	0.58432	D	0.99999	D;D	0.69078	0.997;0.997	D;D	0.85130	0.992;0.997	T	0.09443	-1.0674	10	0.87932	D	0	-1.5932	12.8513	0.57858	1.0:0.0:0.0:0.0	.	84;124	A8MYN5;P00325	.;ADH1B_HUMAN	P	124;84	ENSP00000306606:L124P;ENSP00000378351:L84P	ENSP00000306606:L124P	L	-	2	0	ADH1B	100456274	0.186000	0.23225	0.017000	0.16124	0.633000	0.38033	4.417000	0.59822	1.408000	0.46895	0.459000	0.35465	CTG		0.542	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ADAM29	11086	broad.mit.edu	37	4	175897145	175897145	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr4:175897145A>G	ENST00000359240.3	+	5	1139	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	ADAM29_ENST00000445694.1_Missense_Mutation_p.K157E|ADAM29_ENST00000514159.1_Missense_Mutation_p.K157E|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.K157E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	157					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K157E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAGTGAGGAGAAACAATTTTC	0.348																																					p.K157E	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A469G	4						.						87.0	89.0	88.0					4																	175897145		2203	4300	6503	176133720	SO:0001583	missense	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.469A>G	4.37:g.175897145A>G	ENSP00000352177:p.Lys157Glu		176133720	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579124	0.28180	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	3.78	-0.0115	0.13992	.	1.054080	0.07598	U	0.923251	T	0.01976	0.0062	L	0.29908	0.895	0.09310	N	1	P	0.34864	0.473	B	0.32762	0.152	T	0.49437	-0.8940	9	.	.	.	.	5.9371	0.19171	0.6512:0.0:0.3488:0.0	.	157	Q9UKF5	ADA29_HUMAN	E	157	ENSP00000352177:K157E;ENSP00000414544:K157E;ENSP00000384229:K157E;ENSP00000423517:K157E	.	K	+	1	0	ADAM29	176133720	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.425000	0.21346	0.012000	0.14892	-0.269000	0.10298	AAA		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
APC	324	broad.mit.edu	37	5	112162829	112162830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:112162829_112162830insA	ENST00000457016.1	+	12	1813_1814	c.1433_1434insA	c.(1432-1437)ttattgfs	p.L479fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.L479fs|APC_ENST00000508376.2_Frame_Shift_Ins_p.L479fs|CTC-554D6.1_ENST00000520401.1_5'Flank			P25054	APC_HUMAN	adenomatous polyposis coli	479	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L479fs*6(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTGCAGAATTATTGCAAGTGG	0.371		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.L478fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)	c.1433_1434insA	5						.																																			112190729	SO:0001589	frameshift_variant	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1434dupA	5.37:g.112162830_112162830dupA	ENSP00000413133:p.Leu479fs		112190728	NM_000038	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.371	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175226	112175227	+	Frame_Shift_Ins	INS	-	-	A	rs587779791		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:112175226_112175227insA	ENST00000457016.1	+	16	4315_4316	c.3935_3936insA	c.(3934-3939)ggaactfs	p.T1313fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.T1313fs|APC_ENST00000508376.2_Frame_Shift_Ins_p.T1313fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1313	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		T -> A (in FAP and colorectal tumor).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.G1312fs*9(2)|p.G1312E(1)|p.?(1)|p.K1192fs*3(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAAGATTGGAACTAGGTCAG	0.426		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.G1312fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,+1 	.	8	Deletion - Frameshift(5)|Substitution - Missense(1)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(5)|stomach(1)|soft_tissue(1)|skin(1)	c.3935_3936insA	5						.																																			112203126	SO:0001589	frameshift_variant	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3937dupA	5.37:g.112175228_112175228dupA	ENSP00000413133:p.Thr1313fs		112203125	NM_000038	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.426	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA9	9752	broad.mit.edu	37	5	140229215	140229215	+	Missense_Mutation	SNP	G	G	A	rs151053430	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:140229215G>A	ENST00000532602.1	+	1	2168	c.1135G>A	c.(1135-1137)Gca>Aca	p.A379T	PCDHA9_ENST00000378122.3_Missense_Mutation_p.A379T|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	379	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A379T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCTAGACGCAGATGCCAA	0.532																																					p.A379T	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1135A	5						.						120.0	109.0	113.0					5																	140229215		2196	4274	6470	140209399	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1135G>A	5.37:g.140229215G>A	ENSP00000436042:p.Ala379Thr		140209399	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539095	0.45176	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51325	0.71;0.71	3.79	-5.71	0.02413	Cadherin (4);Cadherin-like (1);	0.000000	0.29021	U	0.013387	T	0.23926	0.0579	N	0.12502	0.225	0.09310	N	1	B;P	0.34864	0.004;0.473	B;B	0.25614	0.009;0.062	T	0.04467	-1.0949	10	0.56958	D	0.05	.	17.7613	0.88465	0.0:0.0:0.1304:0.8696	.	379;379	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	379	ENSP00000436042:A379T;ENSP00000367362:A379T	ENSP00000367362:A379T	A	+	1	0	PCDHA9	140209399	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.174000	0.03105	-0.849000	0.04158	0.313000	0.20887	GCA		0.532	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHGA11	56105	broad.mit.edu	37	5	140802451	140802451	+	Missense_Mutation	SNP	G	G	A	rs202035589		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:140802451G>A	ENST00000398587.2	+	1	1690	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V553M|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V553M(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGTTCGTGCTGGACCA	0.622																																					p.V553M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1657A	5						.						156.0	177.0	170.0					5																	140802451		2203	4300	6503	140782635	SO:0001583	missense	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1657G>A	5.37:g.140802451G>A	ENSP00000381589:p.Val553Met		140782635	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	9.294	1.051400	0.19827	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.68181	-0.31;-0.31	5.72	0.3	0.15776	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.508668	0.11820	U	0.526291	D	0.83737	0.5319	H	0.95712	3.71	0.09310	N	0.999999	D;D;D	0.89917	0.995;1.0;0.993	P;D;P	0.67548	0.781;0.952;0.769	T	0.71324	-0.4627	10	0.72032	D	0.01	.	8.1437	0.31100	0.3246:0.107:0.5684:0.0	.	553;553;553	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	553	ENSP00000381589:V553M;ENSP00000428333:V553M	ENSP00000381589:V553M	V	+	1	0	PCDHGA11	140782635	0.001000	0.12720	0.127000	0.21898	0.137000	0.21094	-0.003000	0.12901	0.091000	0.17302	-0.150000	0.13652	GTG		0.622	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
NR3C1	2908	broad.mit.edu	37	5	142680225	142680225	+	Silent	SNP	C	C	T	rs138266608		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:142680225C>T	ENST00000343796.2	-	5	2565	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	NR3C1_ENST00000504572.1_Silent_p.T525T|NR3C1_ENST00000394464.2_Silent_p.T524T|NR3C1_ENST00000416954.2_Silent_p.T127T|NR3C1_ENST00000394466.2_Silent_p.T525T|NR3C1_ENST00000424646.2_Silent_p.T498T|NR3C1_ENST00000503201.1_Silent_p.T524T|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000415690.2_Silent_p.T524T|NR3C1_ENST00000231509.3_Silent_p.T525T	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	524	Hinge.|Interaction with CLOCK.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.T525T(2)|p.T524T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GTTGTGGTAACGTTGCAGGAA	0.413																																					p.T524T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G1572A	5						.	C	,,,,,,,,,,,,,,	0,4406		0,0,2203	210.0	191.0	197.0		1572,1572,1572,1572,1572,1572,1575,1494,1317,1305,1281,627,582,567,1572	-11.4	0.1	5	dbSNP_134	197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NR3C1	NM_000176.2,NM_001018074.1,NM_001018075.1,NM_001018076.1,NM_001018077.1,NM_001020825.1,NM_001024094.1,NM_001204258.1,NM_001204259.1,NM_001204260.1,NM_001204261.1,NM_001204262.1,NM_001204263.1,NM_001204264.1,NM_001204265.1	,,,,,,,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	524/778,524/778,524/778,524/778,524/778,524/743,525/779,498/752,439/693,435/689,427/681,209/463,194/448,189/443,524/677	142680225	1,13005	2203	4300	6503	142660418	SO:0001819	synonymous_variant	2908	exon5			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1572G>A	5.37:g.142680225C>T			142660418	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
GRIA1	2890	broad.mit.edu	37	5	153078482	153078482	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:153078482G>A	ENST00000285900.5	+	10	1644	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R354H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R444H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R444H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R365H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R434H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	434					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R434H(3)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGCAATGACCGTTACGAGGGC	0.507																																					p.R434H												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1301A	5						.						134.0	117.0	123.0					5																	153078482		2203	4300	6503	153058675	SO:0001583	missense	2890	exon10				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1301G>A	5.37:g.153078482G>A	ENSP00000285900:p.Arg434His		153058675	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340721	0.81911	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.78481	1.64;1.64;-1.18;1.64;1.64;1.64;-1.18	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.100313	0.64402	D	0.000011	D	0.86481	0.5943	M	0.72118	2.19	0.54753	D	0.999982	D;D;D;D;P;B	0.61697	0.965;0.965;0.99;0.965;0.897;0.065	P;P;P;P;P;B	0.61800	0.787;0.787;0.894;0.787;0.565;0.052	D	0.87526	0.2449	10	0.66056	D	0.02	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	444;444;354;444;434;434	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	434;434;354;388;434;365;365;444;444	ENSP00000285900:R434H;ENSP00000427920:R354H;ENSP00000339343:R434H;ENSP00000427864:R365H;ENSP00000442108:R365H;ENSP00000428994:R444H;ENSP00000415569:R444H	ENSP00000285900:R434H	R	+	2	0	GRIA1	153058675	0.986000	0.35501	1.000000	0.80357	0.975000	0.68041	4.198000	0.58419	2.548000	0.85928	0.655000	0.94253	CGT		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
SPEF2	79925	broad.mit.edu	37	5	35654813	35654813	+	Silent	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:35654813C>T	ENST00000356031.3	+	7	1117	c.963C>T	c.(961-963)gcC>gcT	p.A321A	SPEF2_ENST00000282469.6_Silent_p.A321A|SPEF2_ENST00000509059.1_Silent_p.A321A|SPEF2_ENST00000440995.2_Silent_p.A321A	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	321					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.A321A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTAATAGCCCACGAAGCAC	0.363																																					p.A321A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C963T	5						.						69.0	67.0	67.0					5																	35654813		2203	4300	6503	35690570	SO:0001819	synonymous_variant	79925	exon7			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.963C>T	5.37:g.35654813C>T			35690570	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	CCDS43309.1																																																																																				0.363	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
MAPK9	5601	broad.mit.edu	37	5	179665386	179665386	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr5:179665386C>G	ENST00000452135.2	-	11	1376	c.1078G>C	c.(1078-1080)Gtc>Ctc	p.V360L	MAPK9_ENST00000343111.6_Missense_Mutation_p.V360L|MAPK9_ENST00000455781.1_Missense_Mutation_p.V360L|MAPK9_ENST00000393360.3_Missense_Mutation_p.V360L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.V275L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	360					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.V360L(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAATCCATGACTTCTTTGTAA	0.308																																					p.V360L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1078C	5						.						174.0	183.0	180.0					5																	179665386		2203	4299	6502	179597992	SO:0001583	missense	5601	exon11			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.1078G>C	5.37:g.179665386C>G	ENSP00000394560:p.Val360Leu		179597992	NM_139070	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385494	0.61956	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	T;T;T;T;T	0.74526	-0.85;-0.84;-0.8;-0.8;-0.22	5.08	5.08	0.68730	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76737	0.4029	M	0.77616	2.38	0.80722	D	1	B;B;B;B	0.22683	0.073;0.06;0.06;0.002	B;B;B;B	0.25614	0.062;0.06;0.06;0.007	T	0.76170	-0.3057	10	0.56958	D	0.05	-23.7068	16.6574	0.85232	0.0:1.0:0.0:0.0	.	360;360;360;360	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	L	360;360;360;360;275	ENSP00000394560:V360L;ENSP00000377028:V360L;ENSP00000389338:V360L;ENSP00000345524:V360L;ENSP00000321410:V275L	ENSP00000345524:V360L	V	-	1	0	MAPK9	179597992	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.142000	0.77339	2.345000	0.79718	0.491000	0.48974	GTC		0.308	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
CRISP1	167	broad.mit.edu	37	6	49819810	49819810	+	Silent	SNP	G	G	A			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr6:49819810G>A	ENST00000335847.4	-	3	200	c.99C>T	c.(97-99)ctC>ctT	p.L33L	CRISP1_ENST00000507853.1_Silent_p.L33L|CRISP1_ENST00000505118.1_Silent_p.L33L|CRISP1_ENST00000355791.2_Silent_p.L33L|CRISP1_ENST00000536021.1_Silent_p.L33L|CRISP1_ENST00000329411.5_Silent_p.L33L	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	33					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.L33L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTCGGTGACGAGCTTATTAA	0.373																																					p.L33L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	6						.						183.0	181.0	181.0					6																	49819810		2203	4300	6503	49927769	SO:0001819	synonymous_variant	167	exon3			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.99C>T	6.37:g.49819810G>A			49927769	NM_001131	B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	CCDS4931.1																																																																																				0.373	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131	
AKAP12	9590	broad.mit.edu	37	6	151670244	151670244	+	Missense_Mutation	SNP	G	G	A	rs552053449		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr6:151670244G>A	ENST00000253332.1	+	3	907	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000354675.6_Missense_Mutation_p.E142K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E240K|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.E135K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	240			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E240K(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAAACCCGAAGAGACCCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		15175	0.0		0.0	False		,,,				2504	0.001				p.E240K	Melanoma(141;1616 1805 10049 24534 51979)											AKAP12,large_intestine,colon,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(2)	c.G718A	6						.						65.0	72.0	69.0					6																	151670244		2203	4300	6503	151711937	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.718G>A	6.37:g.151670244G>A	ENSP00000253332:p.Glu240Lys		151711937	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074188	0.55646	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10573	2.86;2.86;2.89;2.89	5.1	2.33	0.28932	.	0.176274	0.27469	N	0.019236	T	0.03434	0.0099	M	0.68317	2.08	0.09310	N	0.999998	P;P;P	0.49559	0.925;0.925;0.877	B;B;B	0.43052	0.406;0.406;0.23	T	0.28681	-1.0036	10	0.12103	T	0.63	.	3.4429	0.07470	0.1978:0.1237:0.5516:0.1269	.	135;142;240	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	240;240;142;135	ENSP00000384537:E240K;ENSP00000253332:E240K;ENSP00000346702:E142K;ENSP00000352794:E135K	ENSP00000253332:E240K	E	+	1	0	AKAP12	151711937	0.022000	0.18835	0.088000	0.20740	0.013000	0.08279	0.771000	0.26633	0.829000	0.34733	-0.182000	0.12963	GAA		0.557	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
LAMB1	3912	broad.mit.edu	37	7	107572693	107572693	+	Missense_Mutation	SNP	C	C	T	rs267601228		TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:107572693C>T	ENST00000222399.6	-	28	4548	c.4318G>A	c.(4318-4320)Gcc>Acc	p.A1440T	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.A1464T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1440	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A1440T(2)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTCTGCCAGGCGTTGTGTGCA	0.552																																					p.A1440T												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G4318A	7						.						172.0	157.0	162.0					7																	107572693		2203	4300	6503	107359929	SO:0001583	missense	3912	exon28			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4318G>A	7.37:g.107572693C>T	ENSP00000222399:p.Ala1440Thr		107359929	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339605	0.81911	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.42513	0.97;0.99	5.06	5.06	0.68205	.	.	.	.	.	T	0.65059	0.2655	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.996	P;P	0.62813	0.907;0.769	T	0.69811	-0.5044	9	0.87932	D	0	.	18.6114	0.91286	0.0:1.0:0.0:0.0	.	1440;1464	P07942;G3XAI2	LAMB1_HUMAN;.	T	1464;1440	ENSP00000377191:A1464T;ENSP00000222399:A1440T	ENSP00000222399:A1440T	A	-	1	0	LAMB1	107359929	0.148000	0.22702	0.963000	0.40424	0.993000	0.82548	0.667000	0.25112	2.627000	0.88993	0.655000	0.94253	GCC		0.552	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
CFTR	1080	broad.mit.edu	37	7	117180369	117180369	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:117180369A>C	ENST00000003084.6	+	8	1217	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	CFTR_ENST00000454343.1_Missense_Mutation_p.Y362S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	362	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.Y362S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CAAACATGGTATGACTCTCTT	0.383									Cystic Fibrosis																												p.Y362S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1085C	7						.						101.0	97.0	99.0					7																	117180369		2203	4300	6503	116967605	SO:0001583	missense	1080	exon8	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1085A>C	7.37:g.117180369A>C	ENSP00000003084:p.Tyr362Ser		116967605	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674588	0.67928	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91740	-2.83;-2.62;-2.9	5.26	5.26	0.73747	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	N	0.13299	0.325	0.54753	D	0.999983	D	0.89917	1.0	D	0.79784	0.993	D	0.90399	0.4401	10	0.25106	T	0.35	-14.0113	15.4604	0.75353	1.0:0.0:0.0:0.0	.	362	P13569	CFTR_HUMAN	S	362;362;332	ENSP00000003084:Y362S;ENSP00000403677:Y362S;ENSP00000389119:Y332S	ENSP00000003084:Y362S	Y	+	2	0	CFTR	116967605	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.006000	0.76329	2.101000	0.63845	0.460000	0.39030	TAT		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
MKLN1	4289	broad.mit.edu	37	7	131151139	131151139	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:131151139A>T	ENST00000352689.6	+	15	1933	c.1893A>T	c.(1891-1893)ttA>ttT	p.L631F	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.L539F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	631					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.L631F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGATTATTTACTGAGGCATT	0.328																																					p.L631F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1893T	7						.						104.0	103.0	103.0					7																	131151139		2203	4300	6503	130801679	SO:0001583	missense	4289	exon15			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1893A>T	7.37:g.131151139A>T	ENSP00000323527:p.Leu631Phe		130801679	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763331	0.69763	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.48201	1.83;0.82	5.8	0.893	0.19236	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.43152	1.355	0.58432	D	0.999999	B;P;B;D	0.63880	0.058;0.883;0.449;0.993	B;P;B;D	0.64237	0.036;0.621;0.303;0.923	T	0.45454	-0.9260	10	0.49607	T	0.09	-9.6387	8.2107	0.31481	0.3766:0.0:0.6234:0.0	.	631;608;539;121	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	F	539;631;121	ENSP00000398094:L539F;ENSP00000323527:L631F	ENSP00000323527:L631F	L	+	3	2	MKLN1	130801679	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.448000	0.44926	0.155000	0.19261	0.528000	0.53228	TTA		0.328	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	
CNTNAP2	26047	broad.mit.edu	37	7	146741074	146741074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:146741074C>T	ENST00000361727.3	+	4	994	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	160	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R160C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGCTATGTGCGCATAGTGCC	0.428										HNSCC(39;0.1)																											p.R160C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C478T	7						.						194.0	168.0	177.0					7																	146741074		2203	4300	6503	146372007	SO:0001583	missense	26047	exon4			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.478C>T	7.37:g.146741074C>T	ENSP00000354778:p.Arg160Cys		146372007	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124055	0.56613	.	.	ENSG00000174469	ENST00000361727	D	0.99113	-5.44	5.47	5.47	0.80525	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000060	D	0.99560	0.9842	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97942	1.0326	10	0.87932	D	0	.	13.728	0.62769	0.1546:0.8454:0.0:0.0	.	160	Q9UHC6	CNTP2_HUMAN	C	160	ENSP00000354778:R160C	ENSP00000354778:R160C	R	+	1	0	CNTNAP2	146372007	0.998000	0.40836	0.985000	0.45067	0.322000	0.28314	3.895000	0.56258	2.568000	0.86640	0.462000	0.41574	CGC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
POM121	9883	broad.mit.edu	37	7	72413700	72413700	+	Silent	SNP	C	C	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:72413700C>T	ENST00000434423.2	+	11	3168	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A	POM121_ENST00000446813.1_Silent_p.A791A|POM121_ENST00000395270.1_Silent_p.A791A|POM121_ENST00000358357.3_Silent_p.A791A|POM121_ENST00000257622.4_Silent_p.A791A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1056	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A791A(1)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CACAGCCCGCCTTTGGCGGCT	0.657																																					p.A791A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2373T	7						.						26.0	30.0	29.0					7																	72413700		2203	4298	6501	72051636	SO:0001819	synonymous_variant	9883	exon13			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3168C>T	7.37:g.72413700C>T			72051636	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37																																																																																					0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
NOM1	64434	broad.mit.edu	37	7	156743149	156743149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr7:156743149G>T	ENST00000275820.3	+	1	733	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	240	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E240*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGGAGGAGGAAGATGCCGG	0.552																																					p.E240X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G718T	7						.						76.0	76.0	76.0					7																	156743149		2203	4300	6503	156435910	SO:0001587	stop_gained	64434	exon1			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.718G>T	7.37:g.156743149G>T	ENSP00000275820:p.Glu240*		156435910	NM_138400	Q96I08	Nonsense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	37	6.461262	0.97585	.	.	ENSG00000146909	ENST00000275820	.	.	.	4.12	3.24	0.37175	.	0.587370	0.16155	N	0.227077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	11.7639	0.51920	0.0862:0.0:0.9138:0.0	.	.	.	.	X	240	.	ENSP00000275820:E240X	E	+	1	0	NOM1	156435910	0.977000	0.34250	0.728000	0.30774	0.670000	0.39368	1.990000	0.40717	0.937000	0.37394	0.650000	0.86243	GAA		0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
SPATA31E1	286234	broad.mit.edu	37	9	90498092	90498092	+	Missense_Mutation	SNP	G	G	A	rs146303708	byFrequency	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chr9:90498092G>A	ENST00000325643.5	+	1	352	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	96					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G96R(1)									ACCCCCGCCCGGGAGGAAGAG	0.557													.|||	5	0.000998403	0.0015	0.0	5008	,	,		16947	0.0		0.003	False		,,,				2504	0.0				p.G96R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	9						.	G	ARG/GLY	16,4388		0,16,2186	22.0	23.0	23.0		286	-4.1	0.0	9	dbSNP_134	23	2,8594		0,2,4296	yes	missense	C9orf79	NM_178828.4	125	0,18,6482	AA,AG,GG		0.0233,0.3633,0.1385	benign	96/1446	90498092	18,12982	2202	4298	6500	89687912	SO:0001583	missense	286234	exon1			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.286G>A	9.37:g.90498092G>A	ENSP00000322640:p.Gly96Arg		89687912	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	.	0.010	-1.762059	0.00651	0.003633	2.33E-4	ENSG00000177992	ENST00000325643	T	0.03330	3.97	2.06	-4.13	0.03904	.	1.877020	0.03788	N	0.262383	T	0.01627	0.0052	N	0.05414	-0.055	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.42447	-0.9451	10	0.11485	T	0.65	.	0.7452	0.00981	0.4238:0.1699:0.2358:0.1705	.	96	Q6ZUB1	CI079_HUMAN	R	96	ENSP00000322640:G96R	ENSP00000322640:G96R	G	+	1	0	C9orf79	89687912	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.254000	0.18314	-1.610000	0.01583	0.508000	0.49915	GGG		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
FAM47C	442444	broad.mit.edu	37	X	37029366	37029366	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chrX:37029366G>C	ENST00000358047.3	+	1	2935	c.2883G>C	c.(2881-2883)aaG>aaC	p.K961N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	961								p.K961N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGACCCCAAGCTCGTACTTG	0.453																																					p.K961N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2883C	X						.						121.0	116.0	118.0					X																	37029366		2202	4300	6502	36939287	SO:0001583	missense	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2883G>C	X.37:g.37029366G>C	ENSP00000367913:p.Lys961Asn		36939287	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	6.862	0.528452	0.13127	.	.	ENSG00000198173	ENST00000358047	T	0.16897	2.31	0.502	-0.696	0.11287	.	.	.	.	.	T	0.15349	0.0370	L	0.51914	1.62	0.09310	N	1	P	0.42518	0.782	B	0.41764	0.366	T	0.13926	-1.0491	8	0.72032	D	0.01	.	.	.	.	.	961	Q5HY64	FA47C_HUMAN	N	961	ENSP00000367913:K961N	ENSP00000367913:K961N	K	+	3	2	FAM47C	36939287	0.068000	0.21057	0.001000	0.08648	0.003000	0.03518	1.200000	0.32247	-0.478000	0.06823	-0.884000	0.02946	AAG		0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
HUWE1	10075	broad.mit.edu	37	X	53571600	53571600	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02F-01A-01W-A00E-09	TCGA-AA-A02F-10A-01W-A00E-09	g.chrX:53571600C>G	ENST00000342160.3	-	71	11629	c.11172G>C	c.(11170-11172)ttG>ttC	p.L3724F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L3724F|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3724					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L3614F(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTAGTACCCTCAAGAAGAACT	0.537																																					p.L3724F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11172C	X						.						89.0	69.0	76.0					X																	53571600		2203	4300	6503	53588325	SO:0001583	missense	10075	exon72			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11172G>C	X.37:g.53571600C>G	ENSP00000340648:p.Leu3724Phe		53588325	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.25|11.25	1.583628|1.583628	0.28268|0.28268	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.69435	.|-0.4;-0.4	5.66|5.66	4.76|4.76	0.60689|0.60689	.|.	.|0.166954	.|0.35903	.|N	.|0.002908	T|T	0.80374|0.80374	0.4611|0.4611	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;0.995;0.997	.|D;D;D	.|0.83275	.|0.996;0.969;0.986	T|T	0.81586|0.81586	-0.0865|-0.0865	5|10	.|0.54805	.|T	.|0.06	.|.	12.0144|12.0144	0.53305|0.53305	0.3027:0.6973:0.0:0.0|0.3027:0.6973:0.0:0.0	.|.	.|561;3724;3708	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	Q|F	2758;562|3724	.|ENSP00000340648:L3724F;ENSP00000262854:L3724F	.|ENSP00000262854:L3724F	E|L	-|-	1|3	0|2	HUWE1|HUWE1	53588325|53588325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.064000|2.064000	0.41432|0.41432	2.396000|2.396000	0.81511|0.81511	0.534000|0.534000	0.68092|0.68092	GAG|TTG		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
