#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
ANKRD30A	91074	broad.mit.edu	37	10	37488681	37488681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr10:37488681C>T	ENST00000602533.1	+	30	2674	c.2575C>T	c.(2575-2577)Caa>Taa	p.Q859*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q859*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.Q978*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	915					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q859*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAATCAAAACAAAAGAAGGT	0.269																																					p.Q859X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2575T	10						.						85.0	76.0	78.0					10																	37488681		1777	4059	5836	37528687	SO:0001587	stop_gained	91074	exon30			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2575C>T	10.37:g.37488681C>T	ENSP00000473551:p.Gln859*		37528687	NM_052997	Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	c	27.0	4.791839	0.90453	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	0.868	-0.198	0.13224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6101	0.12399	0.0:0.4265:0.5735:0.0	.	.	.	.	X	859;978	.	ENSP00000354432:Q859X	Q	+	1	0	ANKRD30A	37528687	0.047000	0.20315	0.000000	0.03702	0.010000	0.07245	0.330000	0.19715	-0.070000	0.12908	0.162000	0.16502	CAA		0.269	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
PHYHIPL	84457	broad.mit.edu	37	10	60996288	60996288	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr10:60996288A>G	ENST00000373880.4	+	3	613	c.349A>G	c.(349-351)Act>Gct	p.T117A	PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.T91A	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	117	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.T117A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CTTGCCTATGACTGTCCGTGG	0.448																																					p.T91A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A271G	10						.						110.0	98.0	102.0					10																	60996288		2203	4300	6503	60666294	SO:0001583	missense	84457	exon3			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.349A>G	10.37:g.60996288A>G	ENSP00000362987:p.Thr117Ala		60666294	NM_001143774	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378693	0.61735	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.14661	0.345	0.80722	D	1	B;B	0.30406	0.124;0.278	B;B	0.31390	0.057;0.129	T	0.38585	-0.9654	10	0.36615	T	0.2	-6.3911	16.4461	0.83932	1.0:0.0:0.0:0.0	.	91;117	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	A	117;91	ENSP00000362987:T117A;ENSP00000362985:T91A	ENSP00000362985:T91A	T	+	1	0	PHYHIPL	60666294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.310000	0.96267	2.285000	0.76669	0.528000	0.53228	ACT		0.448	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439	
GRIA4	2893	broad.mit.edu	37	11	105774591	105774591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:105774591C>T	ENST00000530497.1	+	7	937	c.937C>T	c.(937-939)Cga>Tga	p.R313*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.R313*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.R313*|GRIA4_ENST00000428631.2_Nonsense_Mutation_p.R313*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.R313*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.R313*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	313					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R313*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGAAACTTTCCGAAGTCTTAG	0.428																																					p.R313X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C937T	11						.						137.0	133.0	134.0					11																	105774591		2202	4299	6501	105279801	SO:0001587	stop_gained	2893	exon8			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.937C>T	11.37:g.105774591C>T	ENSP00000435775:p.Arg313*		105279801	NM_001077244	Q86XE8	Nonsense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.765981	0.98477	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0855	0.97800	0.0:1.0:0.0:0.0	.	.	.	.	X	313	.	ENSP00000282499:R313X	R	+	1	2	GRIA4	105279801	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.945000	0.49043	2.813000	0.96785	0.655000	0.94253	CGA		0.428	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
CD151	977	broad.mit.edu	37	11	837543	837543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:837543delC	ENST00000397420.3	+	7	789	c.540delC	c.(538-540)gtcfs	p.V180fs	CD151_ENST00000322008.4_Frame_Shift_Del_p.V180fs|CD151_ENST00000528011.1_Frame_Shift_Del_p.V180fs|CD151_ENST00000397421.1_Frame_Shift_Del_p.V180fs			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	180					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.P181fs*40(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGTGTGGTCCCAGACAGCT	0.597																																					p.V180fs	Esophageal Squamous(14;501 559 15826 37823 38305)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.540delC	11						.						109.0	102.0	104.0					11																	837543		2203	4297	6500	827543	SO:0001589	frameshift_variant	977	exon6			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.540delC	11.37:g.837543delC	ENSP00000380565:p.Val180fs		827543	NM_001039490	A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Frame_Shift_Del	DEL	ENST00000397420.3	37	CCDS7719.1																																																																																				0.597	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357	
TRIM34	53840	broad.mit.edu	37	11	5664517	5664517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:5664517C>T	ENST00000514226.1	+	8	1382	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	TRIM34_ENST00000429814.2_Missense_Mutation_p.H349Y|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.H703Y|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.H349Y	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	349	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.			H -> Y (in Ref. 5). {ECO:0000305}.	positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.H703Y(1)|p.H349Y(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGGGAAACATTACTGGGA	0.428																																					p.H349Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1045T	11						.						72.0	71.0	71.0					11																	5664517		2201	4297	6498	5621093	SO:0001583	missense	445372	exon8			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1045C>T	11.37:g.5664517C>T	ENSP00000422947:p.His349Tyr		5621093	NM_001003827	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706641	0.30232	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	3.07	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.34200	N	0.004177	T	0.71978	0.3404	L	0.48642	1.525	0.23716	N	0.997034	D;B	0.60575	0.988;0.379	D;B	0.71870	0.975;0.124	T	0.59579	-0.7428	10	0.40728	T	0.16	.	9.8531	0.41068	0.0:1.0:0.0:0.0	.	349;703	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	Y	703;349;349;349;703	ENSP00000422947:H349Y;ENSP00000402595:H349Y;ENSP00000395982:H349Y;ENSP00000346916:H703Y	ENSP00000402595:H349Y	H	+	1	0	TRIM34;TRIM6-TRIM34	5621093	0.995000	0.38212	1.000000	0.80357	0.907000	0.53573	1.466000	0.35310	2.014000	0.59158	0.411000	0.27672	CAT		0.428	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
OR5I1	10798	broad.mit.edu	37	11	55703744	55703744	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:55703744T>A	ENST00000301532.3	-	1	132	c.133A>T	c.(133-135)Att>Ttt	p.I45F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	45					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I45F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATCAATCCAATGTTCCCTATC	0.393																																					p.I45F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A133T	11						.						70.0	69.0	69.0					11																	55703744		2201	4295	6496	55460320	SO:0001583	missense	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.133A>T	11.37:g.55703744T>A	ENSP00000301532:p.Ile45Phe		55460320	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	t	12.43	1.934477	0.34096	.	.	ENSG00000167825	ENST00000301532	T	0.00433	7.43	5.05	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.139282	0.32935	N	0.005477	T	0.00300	0.0009	L	0.39326	1.205	0.09310	N	0.999998	P	0.47409	0.895	B	0.44315	0.446	T	0.53063	-0.8491	10	0.72032	D	0.01	.	2.4573	0.04532	0.1424:0.0815:0.295:0.4811	.	45	Q13606	OR5I1_HUMAN	F	45	ENSP00000301532:I45F	ENSP00000301532:I45F	I	-	1	0	OR5I1	55460320	0.000000	0.05858	0.334000	0.25495	0.400000	0.30750	-3.826000	0.00356	0.006000	0.14734	-0.303000	0.09236	ATT		0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
CTNND1	1500	broad.mit.edu	37	11	57564066	57564066	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:57564066C>T	ENST00000399050.4	+	6	1094	c.558C>T	c.(556-558)ggC>ggT	p.G186G	CTNND1_ENST00000399039.4_Silent_p.G186G|CTNND1_ENST00000532787.1_Silent_p.G85G|CTNND1_ENST00000532463.1_Silent_p.G85G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361332.4_Silent_p.G186G|CTNND1_ENST00000530094.1_Silent_p.G85G|CTNND1_ENST00000360682.6_Silent_p.G186G|CTNND1_ENST00000415361.2_Silent_p.G85G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G132G|CTNND1_ENST00000532245.1_Silent_p.G85G|CTNND1_ENST00000532649.1_Silent_p.G132G|CTNND1_ENST00000529986.1_Silent_p.G85G|CTNND1_ENST00000532844.1_Silent_p.G132G|CTNND1_ENST00000524630.1_Silent_p.G186G|CTNND1_ENST00000534579.1_Silent_p.G132G|CTNND1_ENST00000529919.1_Silent_p.G186G|CTNND1_ENST00000526938.1_Silent_p.G186G|CTNND1_ENST00000529873.1_Silent_p.G132G|CTNND1_ENST00000426142.2_Silent_p.G85G|CTNND1_ENST00000530748.1_Silent_p.G132G|CTNND1_ENST00000528232.1_Silent_p.G85G|CTNND1_ENST00000361391.6_Silent_p.G186G|CTNND1_ENST00000526357.1_Silent_p.G132G|CTNND1_ENST00000361796.4_Silent_p.G186G|CTNND1_ENST00000358694.6_Silent_p.G186G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000428599.2_Silent_p.G186G|CTNND1_ENST00000528621.1_Silent_p.G132G|CTNND1_ENST00000527467.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	186					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.G186G(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCAAGAATGGCAATGGGGGAC	0.517																																					p.G186G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	11						.						185.0	192.0	190.0					11																	57564066		2084	4219	6303	57320642	SO:0001819	synonymous_variant	1500	exon6			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.558C>T	11.37:g.57564066C>T			57320642	NM_001331	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	CCDS44604.1																																																																																				0.517	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
GRM5	2915	broad.mit.edu	37	11	88300848	88300848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:88300848C>T	ENST00000305447.4	-	7	2152	c.2003G>A	c.(2002-2004)cGt>cAt	p.R668H	GRM5_ENST00000418177.2_Missense_Mutation_p.R668H|GRM5_ENST00000305432.5_Missense_Mutation_p.R668H|GRM5_ENST00000455756.2_Missense_Mutation_p.R668H|GRM5_ENST00000393297.1_Missense_Mutation_p.R668H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	668					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R668H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCTTGCAATACGGTTGGTCTT	0.478																																					p.R668H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2003A	11						.						174.0	159.0	164.0					11																	88300848		2201	4299	6500	87940496	SO:0001583	missense	2915	exon8			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2003G>A	11.37:g.88300848C>T	ENSP00000306138:p.Arg668His		87940496	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791375	0.90367	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97029	0.9749	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	668;668	P41594-2;P41594	.;GRM5_HUMAN	H	668	ENSP00000402912:R668H;ENSP00000405690:R668H;ENSP00000305905:R668H;ENSP00000306138:R668H;ENSP00000376975:R668H	.	R	-	2	0	GRM5	87940496	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	CGT		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
GRIK4	2900	broad.mit.edu	37	11	120702677	120702677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr11:120702677G>A	ENST00000527524.2	+	7	915	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GRIK4_ENST00000438375.2_Missense_Mutation_p.D210N	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	210					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D210N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GATCCGGGACGACAAGACCGC	0.632																																					p.D210N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628A	11						.						125.0	109.0	115.0					11																	120702677		2203	4299	6502	120207887	SO:0001583	missense	2900	exon5			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.628G>A	11.37:g.120702677G>A	ENSP00000435648:p.Asp210Asn		120207887	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236683	0.95240	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.82893	-1.66;-1.66	4.57	4.57	0.56435	Extracellular ligand-binding receptor (1);	0.098333	0.64402	D	0.000001	D	0.88194	0.6371	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.62298	0.9;0.9	D	0.86220	0.1630	10	0.27082	T	0.32	.	17.5577	0.87897	0.0:0.0:1.0:0.0	.	210;210	A6H8K8;Q16099	.;GRIK4_HUMAN	N	210	ENSP00000435648:D210N;ENSP00000404063:D210N	ENSP00000404063:D210N	D	+	1	0	GRIK4	120207887	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.255000	0.95524	2.360000	0.80028	0.561000	0.74099	GAC		0.632	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
RIMBP2	23504	broad.mit.edu	37	12	130929760	130929760	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:130929760C>T	ENST00000261655.4	-	7	748	c.585G>A	c.(583-585)acG>acA	p.T195T	RIMBP2_ENST00000536002.1_Silent_p.T103T|RIMBP2_ENST00000535703.1_Silent_p.T103T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	195	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T195T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTTTCCCGCCGTGAGGGGCA	0.542																																					p.T195T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G585A	12						.						154.0	133.0	140.0					12																	130929760		2203	4300	6503	129495713	SO:0001819	synonymous_variant	23504	exon7			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.585G>A	12.37:g.130929760C>T			129495713	NM_015347	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.542	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	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;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ADAMTS20	80070	broad.mit.edu	37	12	43763095	43763095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:43763095G>A	ENST00000389420.3	-	37	5535	c.5536C>T	c.(5536-5538)Cag>Tag	p.Q1846*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1846	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1846*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAAATACCTGTGGGCATCTG	0.318																																					p.Q1846X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5536T	12						.						45.0	46.0	46.0					12																	43763095		2203	4299	6502	42049362	SO:0001587	stop_gained	80070	exon37			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5536C>T	12.37:g.43763095G>A	ENSP00000374071:p.Gln1846*		42049362	NM_025003	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	45	11.363336	0.99551	.	.	ENSG00000173157	ENST00000389420	.	.	.	5.13	5.13	0.70059	.	0.000000	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.469	0.94954	0.0:0.0:1.0:0.0	.	.	.	.	X	1846	.	ENSP00000374071:Q1846X	Q	-	1	0	ADAMTS20	42049362	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.406000	0.80017	2.774000	0.95407	0.585000	0.79938	CAG		0.318	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
KRT74	121391	broad.mit.edu	37	12	52967151	52967151	+	Silent	SNP	G	G	A	rs149972815	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:52967151G>A	ENST00000305620.2	-	1	458	c.411C>T	c.(409-411)cgC>cgT	p.R137R	KRT74_ENST00000549343.1_Silent_p.R137R	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	137	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.R137R(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTCCTGGGCGCGCACCTTCT	0.607													G|||	7	0.00139776	0.0	0.0	5008	,	,		18620	0.0069		0.0	False		,,,				2504	0.0				p.R137R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	12						.						124.0	118.0	120.0					12																	52967151		2203	4300	6503	51253418	SO:0001819	synonymous_variant	121391	exon1			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.411C>T	12.37:g.52967151G>A			51253418	NM_175053	B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	CCDS8832.1																																																																																				0.607	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
SMUG1	23583	broad.mit.edu	37	12	54577529	54577529	+	Missense_Mutation	SNP	G	G	A	rs371582477		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:54577529G>A	ENST00000508394.2	-	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	SMUG1_ENST00000514685.1_Missense_Mutation_p.R66C|SMUG1_ENST00000506595.1_Missense_Mutation_p.R66C|SMUG1_ENST00000513838.1_Missense_Mutation_p.R66C|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000514196.1_Missense_Mutation_p.R66C|SMUG1_ENST00000505128.1_Missense_Mutation_p.R66C|SMUG1_ENST00000337581.3_Missense_Mutation_p.R66C|SMUG1_ENST00000401977.2_Missense_Mutation_p.R66C|SMUG1_ENST00000243112.5_Missense_Mutation_p.R66C	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	66				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.R66C(1)		kidney(1)|large_intestine(4)|lung(1)	6						ACGTAGTTGCGATGTGGCTCC	0.572								Base excision repair (BER), DNA glycosylases																													p.R66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	12						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	72.0	76.0		196	3.6	0.9	12		76	0,8600		0,0,4300	no	missense	SMUG1	NM_014311.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	66/271	54577529	1,13005	2203	4300	6503	52863796	SO:0001583	missense	23583	exon3			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.196C>T	12.37:g.54577529G>A	ENSP00000424191:p.Arg66Cys		52863796	NM_014311	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203211	0.58234	2.27E-4	0.0	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.49	3.59	0.41128	Uracil-DNA glycosylase-like (2);	0.267345	0.38436	N	0.001695	T	0.44498	0.1296	L	0.35487	1.065	0.48288	D	0.999629	B;D;D	0.76494	0.006;0.999;0.999	B;P;P	0.59703	0.002;0.804;0.862	T	0.28364	-1.0046	10	0.40728	T	0.16	.	9.0434	0.36331	0.0:0.1616:0.6713:0.1671	.	66;66;66	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	C	66	ENSP00000421206:R66C;ENSP00000421139:R66C;ENSP00000421894:R66C;ENSP00000338606:R66C;ENSP00000424191:R66C;ENSP00000423629:R66C;ENSP00000243112:R66C;ENSP00000384828:R66C;ENSP00000425974:R66C;ENSP00000423083:R66C;ENSP00000423457:R66C;ENSP00000421790:R66C;ENSP00000427547:R66C;ENSP00000425426:R66C	ENSP00000243112:R66C	R	-	1	0	SMUG1	52863796	0.991000	0.36638	0.935000	0.37517	0.866000	0.49608	2.195000	0.42677	1.230000	0.43646	0.591000	0.81541	CGC		0.572	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311	
KCNC2	3747	broad.mit.edu	37	12	75436913	75436913	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:75436913G>C	ENST00000549446.1	-	5	2569	c.1889C>G	c.(1888-1890)tCt>tGt	p.S630C	KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000540018.1_Missense_Mutation_p.S575C|KCNC2_ENST00000548513.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	630					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S630C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGGAGATCGAGAGCGCCTCAG	0.453																																					p.S630C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1889G	12						.						152.0	135.0	141.0					12																	75436913		2203	4300	6503	73723180	SO:0001583	missense	3747	exon5			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1889C>G	12.37:g.75436913G>C	ENSP00000449253:p.Ser630Cys		73723180	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088613	0.55968	.	.	ENSG00000166006	ENST00000549446;ENST00000540018	D;D	0.97352	-4.25;-4.35	6.17	6.17	0.99709	.	0.610527	0.14647	N	0.306830	D	0.94565	0.8249	N	0.19112	0.55	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.18263	0.021;0.003	D	0.88398	0.3013	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	575;630	F5H030;Q96PR1	.;KCNC2_HUMAN	C	630;575	ENSP00000449253:S630C;ENSP00000438423:S575C	ENSP00000438423:S575C	S	-	2	0	KCNC2	73723180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.597000	0.74118	2.941000	0.99782	0.655000	0.94253	TCT		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
RIMBP2	23504	broad.mit.edu	37	12	130935769	130935769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr12:130935769C>T	ENST00000261655.4	-	5	587	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	RIMBP2_ENST00000536002.1_Missense_Mutation_p.G50S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.G50S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	142					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G142S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGCGCTACCGGATCTCGAC	0.637																																					p.G142S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	12						.						66.0	61.0	63.0					12																	130935769		2203	4300	6503	129501722	SO:0001583	missense	23504	exon5			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.424G>A	12.37:g.130935769C>T	ENSP00000261655:p.Gly142Ser		129501722	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	1.458	-0.563255	0.03939	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.18174	2.23;3.04;3.04	3.95	-0.778	0.10977	.	3.092840	0.01275	N	0.009550	T	0.09949	0.0244	N	0.14661	0.345	0.19575	N	0.999963	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.001	T	0.19844	-1.0293	10	0.21014	T	0.42	0.0885	4.0385	0.09740	0.158:0.5396:0.0:0.3024	.	50;142	O15034-2;O15034	.;RIMB2_HUMAN	S	142;50;50;50	ENSP00000261655:G142S;ENSP00000440347:G50S;ENSP00000439159:G50S	ENSP00000261655:G142S	G	-	1	0	RIMBP2	129501722	0.000000	0.05858	0.008000	0.14137	0.644000	0.38419	-0.251000	0.08818	-0.610000	0.05716	0.561000	0.74099	GGT		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
NALCN	259232	broad.mit.edu	37	13	101759854	101759854	+	Nonsense_Mutation	SNP	G	G	A	rs376152742		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr13:101759854G>A	ENST00000251127.6	-	22	2644	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	855					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R855*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCGTGCTCGGACCACCACC	0.507																																					p.R855X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2563T	13						.	G	stop/ARG	0,4406		0,0,2203	125.0	109.0	114.0		2563	4.7	1.0	13		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	NALCN	NM_052867.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		855/1739	101759854	1,13005	2203	4300	6503	100557855	SO:0001587	stop_gained	259232	exon22			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2563C>T	13.37:g.101759854G>A	ENSP00000251127:p.Arg855*		100557855	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	42	9.290933	0.99127	0.0	1.16E-4	ENSG00000102452	ENST00000251127	.	.	.	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.014	0.71570	0.0:0.0:0.7461:0.2539	.	.	.	.	X	855	.	ENSP00000251127:R855X	R	-	1	2	NALCN	100557855	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.572000	0.60886	2.630000	0.89119	0.650000	0.86243	CGA		0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ATP11A	23250	broad.mit.edu	37	13	113530220	113530220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr13:113530220C>T	ENST00000487903.1	+	28	3380	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	ATP11A_ENST00000375645.3_Missense_Mutation_p.R1098W|ATP11A_ENST00000283558.8_Missense_Mutation_p.R1098W|ATP11A_ENST00000375630.2_Missense_Mutation_p.R1098W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1098					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1098W(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGTCCTGTGCCGGCAGCTGTG	0.647																																					p.R1098W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3292T	13						.						46.0	44.0	45.0					13																	113530220		2203	4300	6503	112578221	SO:0001583	missense	23250	exon28			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3292C>T	13.37:g.113530220C>T	ENSP00000420387:p.Arg1098Trp		112578221	NM_015205	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.641066|2.641066	0.47153|0.47153	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000415301|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	.|T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27	4.79|4.79	-3.09|-3.09	0.05331|0.05331	.|.	.|0.272185	.|0.40554	.|N	.|0.001071	T|T	0.73289|0.73289	0.3568|0.3568	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.994	.|P;P	.|0.62184	.|0.899;0.556	T|T	0.77539|0.77539	-0.2550|-0.2550	5|10	.|0.72032	.|D	.|0.01	.|.	15.5395|15.5395	0.76031|0.76031	0.3946:0.6054:0.0:0.0|0.3946:0.6054:0.0:0.0	.|.	.|1098;1098	.|E9PEJ6;P98196	.|.;AT11A_HUMAN	L|W	33|1098;1098;1098;1098;90	.|ENSP00000420387:R1098W;ENSP00000364781:R1098W;ENSP00000364796:R1098W;ENSP00000283558:R1098W;ENSP00000410824:R90W	.|ENSP00000283558:R1098W	P|R	+|+	2|1	0|2	ATP11A|ATP11A	112578221|112578221	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.005000|0.005000	0.04900|0.04900	1.797000|1.797000	0.38804|0.38804	-0.860000|-0.860000	0.04099|0.04099	-0.310000|-0.310000	0.09108|0.09108	CCG|CGG		0.647	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G	rs533419765|rs201579420		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644																																					p.R326fs												.	.	1	Insertion - Frameshift(1)	ovary(1)	c.976_977insG	14						.																																			73894216	SO:0001589	frameshift_variant	55237	exon2			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.983dupG	14.37:g.74824469_74824469dupG	ENSP00000256362:p.Arg326fs		73894215	NM_018228	Q9NVC7	Frame_Shift_Ins	INS	ENST00000256362.4	37	CCDS9830.1																																																																																				0.644	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
CDC42BPB	9578	broad.mit.edu	37	14	103465979	103465979	+	Silent	SNP	C	C	T	rs377547128		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr14:103465979C>T	ENST00000361246.2	-	5	807	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.P173P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCATATCTTCCGGAAGCTTGT	0.438																																					p.P173P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	14						.	C		0,4406		0,0,2203	126.0	110.0	115.0		519	-10.1	0.4	14		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		173/1712	103465979	1,13005	2203	4300	6503	102535732	SO:0001819	synonymous_variant	9578	exon5			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.519G>A	14.37:g.103465979C>T			102535732	NM_006035		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																				0.438	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
OR4N4	283694	broad.mit.edu	37	15	22382838	22382838	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr15:22382838C>T	ENST00000328795.4	+	1	457	c.366C>T	c.(364-366)cgC>cgT	p.R122R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTTGACCGCTACATCGCCA	0.512																																					p.R122R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	15						.						134.0	118.0	124.0					15																	22382838		2189	4263	6452	19884202	SO:0001819	synonymous_variant	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.366C>T	15.37:g.22382838C>T			19884202	NM_001005241	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.512	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
NPAP1	23742	broad.mit.edu	37	15	24922486	24922486	+	Missense_Mutation	SNP	C	C	T	rs138683847		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr15:24922486C>T	ENST00000329468.2	+	1	1946	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	491	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A491V(1)									GTAGGAGCAGCGCCTCTCACT	0.522																																					p.A491V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1472T	15						.	C	VAL/ALA	1,4405		0,1,2202	193.0	203.0	200.0		1472	0.7	0.0	15	dbSNP_134	200	0,8600		0,0,4300	no	missense	C15orf2	NM_018958.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	491/1157	24922486	1,13005	2203	4300	6503	22473579	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1472C>T	15.37:g.24922486C>T	ENSP00000333735:p.Ala491Val		22473579	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.00	1.508915	0.27036	2.27E-4	0.0	ENSG00000185823	ENST00000329468	T	0.08720	3.06	1.73	0.741	0.18336	.	1.812030	0.03252	N	0.182025	T	0.05868	0.0153	L	0.34521	1.04	0.09310	N	1	D	0.54397	0.966	B	0.35655	0.207	T	0.38436	-0.9661	10	0.24483	T	0.36	.	5.1957	0.15236	0.3424:0.6576:0.0:0.0	.	491	Q9NZP6	CO002_HUMAN	V	491	ENSP00000333735:A491V	ENSP00000333735:A491V	A	+	2	0	C15orf2	22473579	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.708000	0.05035	0.250000	0.21479	0.305000	0.20034	GCG		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
PLCB2	5330	broad.mit.edu	37	15	40586536	40586536	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr15:40586536C>T	ENST00000260402.3	-	19	2241	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	PLCB2_ENST00000456256.2_Silent_p.P664P|PLCB2_ENST00000557821.1_Silent_p.P660P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	664			P -> L (in dbSNP:rs9972332).		activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P660P(1)|p.P664P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTGCTTGTCCGGCCGGCGCA	0.597																																					p.P664P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1992A	15						.						66.0	72.0	70.0					15																	40586536		2146	4253	6399	38373828	SO:0001819	synonymous_variant	5330	exon19				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1992G>A	15.37:g.40586536C>T			38373828	NM_004573	A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	CCDS42020.1																																																																																				0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
ADAMTSL3	57188	broad.mit.edu	37	15	84373202	84373202	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr15:84373202G>A	ENST00000286744.5	+	3	355	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G44E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	44						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G44E(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTCCTCAGGGAAGTTTTCTG	0.453																																					p.G44E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	15						.						199.0	199.0	199.0					15																	84373202		2203	4300	6503	82164206	SO:0001583	missense	57188	exon3			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.131G>A	15.37:g.84373202G>A	ENSP00000286744:p.Gly44Glu		82164206	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789663	0.90367	.	.	ENSG00000156218	ENST00000286744	T	0.66280	-0.2	5.56	5.56	0.83823	.	0.220765	0.29066	N	0.013244	T	0.76435	0.3987	L	0.51422	1.61	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76666	-0.2875	10	0.59425	D	0.04	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	44;44	P82987-2;P82987	.;ATL3_HUMAN	E	44	ENSP00000286744:G44E	ENSP00000286744:G44E	G	+	2	0	ADAMTSL3	82164206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.483000	0.81158	2.629000	0.89072	0.655000	0.94253	GGA		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
IDH2	3418	broad.mit.edu	37	15	90628072	90628072	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr15:90628072G>A	ENST00000330062.3	-	10	1360	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	RP11-617F23.1_ENST00000558334.1_RNA|IDH2_ENST00000539790.1_Missense_Mutation_p.A286V|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.A364V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	416					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.A416V(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AATGCAGCCCGCCAGGTCCTT	0.632			M		GBM																																p.A416V			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1247T	15						.						109.0	109.0	109.0					15																	90628072		2200	4298	6498	88429076	SO:0001583	missense	3418	exon10				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.1247C>T	15.37:g.90628072G>A	ENSP00000331897:p.Ala416Val		88429076	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345214	0.82022	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.80033	-1.33;-1.33;-1.33	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.88310	2.945	0.80722	D	1	D	0.59767	0.986	B	0.40228	0.323	D	0.87935	0.2713	10	0.72032	D	0.01	.	17.0407	0.86488	0.0:0.0:1.0:0.0	.	416	P48735	IDHP_HUMAN	V	416;286;364	ENSP00000331897:A416V;ENSP00000438457:A286V;ENSP00000446147:A364V	ENSP00000331897:A416V	A	-	2	0	IDH2	88429076	1.000000	0.71417	0.989000	0.46669	0.222000	0.24845	7.950000	0.87804	2.619000	0.88677	0.561000	0.74099	GCG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
NOMO1	23420	broad.mit.edu	37	16	14970347	14970347	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:14970347G>A	ENST00000287667.7	+	21	2659	c.2488G>A	c.(2488-2490)Gtc>Atc	p.V830I		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	830						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.V830I(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCTGATCACAGTCTTTACTGA	0.537																																					p.V830I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2488A	16						.						50.0	48.0	49.0					16																	14970347		1529	3206	4735	14877848	SO:0001583	missense	23420	exon21			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2488G>A	16.37:g.14970347G>A	ENSP00000287667:p.Val830Ile		14877848	NM_014287	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	17.44	3.389168	0.61956	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04502	3.61	3.57	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.33245	0.995	0.80722	D	1	P	0.34864	0.473	B	0.28553	0.091	T	0.53429	-0.8440	10	0.31617	T	0.26	-27.7506	12.7421	0.57259	0.0:0.0:1.0:0.0	.	830	Q15155	NOMO1_HUMAN	I	830;830;663	ENSP00000287667:V830I	ENSP00000287667:V830I	V	+	1	0	NOMO1	14877848	1.000000	0.71417	0.922000	0.36590	0.764000	0.43329	8.870000	0.92336	1.821000	0.53095	0.398000	0.26397	GTC		0.537	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1		
CREBBP	1387	broad.mit.edu	37	16	3781472	3781472	+	Silent	SNP	G	G	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:3781472G>T	ENST00000262367.5	-	30	5702	c.4893C>A	c.(4891-4893)gtC>gtA	p.V1631V	CREBBP_ENST00000382070.3_Silent_p.V1593V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1631	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V1631V(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCACGAAGAAGACCTGCAGGA	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.V1631V			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4893A	16						.						15.0	12.0	13.0					16																	3781472		2193	4295	6488	3721473	SO:0001819	synonymous_variant	1387	exon30			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4893C>A	16.37:g.3781472G>T			3721473	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
MAPK3	5595	broad.mit.edu	37	16	30128010	30128010	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:30128010G>A	ENST00000263025.4	-	8	1203	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395200.1_Silent_p.P305P|MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000322266.5_Silent_p.P329P|MAPK3_ENST00000395202.1_Silent_p.P329P|MAPK3_ENST00000484663.1_Silent_p.P259P	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	373					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|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)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.P373P(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	CCAGCACTCCGGGCTGGAAGC	0.602																																					p.P373P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119T	16						.						61.0	68.0	66.0					16																	30128010		2197	4300	6497	30035511	SO:0001819	synonymous_variant	5595	exon8			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1119C>T	16.37:g.30128010G>A			30035511	NM_002746	A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	ENST00000263025.4	37	CCDS10672.1																																																																																				0.602	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2		
DRC7	84229	broad.mit.edu	37	16	57735984	57735984	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:57735984A>G	ENST00000360716.3	+	6	862	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC135_ENST00000336825.8_Intron|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.D214G			Q8IY82	CC135_HUMAN		214					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.D214G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCTCGCTGGACCTGTGCCAC	0.577																																					p.D214G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A641G	16						.						124.0	98.0	107.0					16																	57735984		2198	4300	6498	56293485	SO:0001583	missense	84229	exon5																														ENST00000360716.3:c.641A>G	16.37:g.57735984A>G	ENSP00000353942:p.Asp214Gly		56293485	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359049	0.61403	.	.	ENSG00000159625	ENST00000394337;ENST00000360716	T;T	0.75154	-0.91;-0.91	5.1	3.98	0.46160	.	0.120261	0.56097	D	0.000034	T	0.63022	0.2476	L	0.31752	0.955	0.80722	D	1	P	0.35872	0.525	B	0.37387	0.248	T	0.59037	-0.7529	10	0.37606	T	0.19	-34.2663	11.1703	0.48567	0.8455:0.1545:0.0:0.0	.	214	Q8IY82	CC135_HUMAN	G	214	ENSP00000377869:D214G;ENSP00000353942:D214G	ENSP00000353942:D214G	D	+	2	0	CCDC135	56293485	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.879000	0.75572	0.748000	0.32831	0.372000	0.22366	GAC		0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
WWOX	51741	broad.mit.edu	37	16	78466609	78466609	+	Missense_Mutation	SNP	C	C	G	rs376672888		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:78466609C>G	ENST00000566780.1	+	8	1382	c.1016C>G	c.(1015-1017)aCa>aGa	p.T339R	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.T339R	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	339	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.T339R(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGGGTGTACACACTGCTGTTT	0.557																																					p.T339R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1016G	16						.						181.0	181.0	181.0					16																	78466609		2074	4213	6287	77024110	SO:0001583	missense	51741	exon8			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1016C>G	16.37:g.78466609C>G	ENSP00000457230:p.Thr339Arg		77024110	NM_016373	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.596|6.596	0.478316|0.478316	0.12521|0.12521	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.78816	.|-1.21	5.93|5.93	4.95|4.95	0.65309|0.65309	.|NAD(P)-binding domain (1);	.|0.207947	.|0.47852	.|D	.|0.000201	T|T	0.56441|0.56441	0.1985|0.1985	N|N	0.03209|0.03209	-0.39|-0.39	0.43913|0.43913	D|D	0.996557|0.996557	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.52548|0.52548	-0.8561|-0.8561	6|10	0.06625|0.13853	T|T	0.88|0.58	.|.	16.2053|16.2053	0.82122|0.82122	0.1341:0.8658:0.0:0.0|0.1341:0.8658:0.0:0.0	.|.	.|339	.|Q9NZC7	.|WWOX_HUMAN	Q|R	180|339	.|ENSP00000386161:T339R	ENSP00000299644:H180Q|ENSP00000386161:T339R	H|T	+|+	3|2	2|0	WWOX|WWOX	77024110|77024110	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.939000|0.939000	0.58152|0.58152	4.677000|4.677000	0.61634|0.61634	1.456000|1.456000	0.47831|0.47831	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.557	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
ANKRD11	29123	broad.mit.edu	37	16	89348414	89348414	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr16:89348414G>A	ENST00000301030.4	-	9	4996	c.4536C>T	c.(4534-4536)cgC>cgT	p.R1512R	ANKRD11_ENST00000378330.2_Silent_p.R1512R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1512	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1512R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTGAGCACGCGGGGCGGGC	0.637																																					p.R1512R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4536T	16						.						62.0	60.0	61.0					16																	89348414		2198	4300	6498	87875915	SO:0001819	synonymous_variant	29123	exon9			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4536C>T	16.37:g.89348414G>A			87875915	NM_013275	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
TP53	7157	broad.mit.edu	37	17	7576855	7576856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:7576855_7576856insA	ENST00000269305.4	-	9	1179_1180	c.990_991insT	c.(988-993)cttcagfs	p.Q331fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q331fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q331fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q331fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q331fs	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAAT	0.446		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.Q199fs	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 - Nonsense,0 	.	34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)	c.595_596insT	17						.																																			7517581	SO:0001589	frameshift_variant	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.991dupT	17.37:g.7576857_7576857dupA	ENSP00000269305:p.Gln331fs		7517580	NM_001126116	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.446	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NCOR1	9611	broad.mit.edu	37	17	15973735	15973735	+	Silent	SNP	C	C	T	rs143182424		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:15973735C>T	ENST00000268712.3	-	31	4514	c.4257G>A	c.(4255-4257)ccG>ccA	p.P1419P	NCOR1_ENST00000395857.3_Silent_p.P3P|NCOR1_ENST00000395851.1_Silent_p.P1435P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1419	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1419P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAATTTCCAGCGGAGGCATTC	0.478																																					p.P1435P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4305A	17						.	C	,	0,4406		0,0,2203	153.0	149.0	150.0		4305,4257	-4.3	1.0	17	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	NCOR1	NM_001190440.1,NM_006311.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1435/2338,1419/2441	15973735	2,13004	2203	4300	6503	15914460	SO:0001819	synonymous_variant	9611	exon30			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4257G>A	17.37:g.15973735C>T			15914460	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
MPRIP	23164	broad.mit.edu	37	17	17057645	17057645	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:17057645C>T	ENST00000341712.4	+	13	1391	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	MPRIP_ENST00000444976.1_Missense_Mutation_p.S426L|MPRIP_ENST00000395811.5_Missense_Mutation_p.S464L|MPRIP_ENST00000395804.3_Missense_Mutation_p.S464L			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	464	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.S464L(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTTACCCTGTCGGCCATGACA	0.567																																					p.S464L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1391T	17						.						122.0	99.0	107.0					17																	17057645		2203	4300	6503	16998370	SO:0001583	missense	23164	exon13			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1391C>T	17.37:g.17057645C>T	ENSP00000342379:p.Ser464Leu		16998370	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002021	0.74932	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.84768	0.5545	M	0.84326	2.69	0.80722	D	1	D;D	0.55800	0.962;0.973	B;P	0.48982	0.407;0.597	D	0.87589	0.2489	9	0.87932	D	0	.	19.3659	0.94461	0.0:1.0:0.0:0.0	.	464;464	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	L	426;464;464;464	ENSP00000400189:S426L;ENSP00000379156:S464L;ENSP00000379149:S464L;ENSP00000342379:S464L	ENSP00000342379:S464L	S	+	2	0	MPRIP	16998370	1.000000	0.71417	0.870000	0.34147	0.529000	0.34654	7.676000	0.84012	2.646000	0.89796	0.655000	0.94253	TCG		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	
LIG3	3980	broad.mit.edu	37	17	33310248	33310248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:33310248C>T	ENST00000378526.4	+	2	357	c.224C>T	c.(223-225)cCa>cTa	p.P75L	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.P75L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	75					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.P75L(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTTTTCTTGCCAGGGTTGCAT	0.527								Other BER factors																													p.P75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	17						.						119.0	119.0	119.0					17																	33310248		2203	4300	6503	30334361	SO:0001583	missense	3980	exon2				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.224C>T	17.37:g.33310248C>T	ENSP00000367787:p.Pro75Leu		30334361	NM_013975	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006081	0.54361	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.61627	0.24;0.09	4.98	4.0	0.46444	.	0.255560	0.31082	N	0.008295	T	0.45538	0.1347	L	0.29908	0.895	0.44771	D	0.997773	B;B;B;B	0.33583	0.112;0.112;0.361;0.418	B;B;B;B	0.33750	0.069;0.069;0.051;0.169	T	0.50432	-0.8829	10	0.72032	D	0.01	-0.4301	11.7756	0.51983	0.1761:0.8239:0.0:0.0	.	75;75;75;75	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	L	75	ENSP00000367787:P75L;ENSP00000262327:P75L	ENSP00000262327:P75L	P	+	2	0	LIG3	30334361	0.296000	0.24398	0.999000	0.59377	0.998000	0.95712	2.235000	0.43044	1.307000	0.44944	0.655000	0.94253	CCA		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
GJC1	10052	broad.mit.edu	37	17	42882874	42882874	+	Silent	SNP	G	G	A	rs147188720		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:42882874G>A	ENST00000426548.1	-	3	581	c.312C>T	c.(310-312)caC>caT	p.H104H	GJC1_ENST00000590758.1_Silent_p.H104H|GJC1_ENST00000592524.1_Silent_p.H104H|GJC1_ENST00000330514.4_Silent_p.H104H	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	104					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.H104H(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTGCTTCACCGTGCTCCATTT	0.537																																					p.H104H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	17						.	G	,	2,4404	4.2+/-10.8	0,2,2201	173.0	161.0	165.0		312,312	-6.9	0.2	17	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GJC1	NM_001080383.1,NM_005497.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	104/397,104/397	42882874	2,13004	2203	4300	6503	40238400	SO:0001819	synonymous_variant	10052	exon3			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.312C>T	17.37:g.42882874G>A			40238400	NM_005497	B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	CCDS11487.1																																																																																				0.537	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
EPX	8288	broad.mit.edu	37	17	56276490	56276490	+	Missense_Mutation	SNP	C	C	T	rs151055641		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr17:56276490C>T	ENST00000225371.5	+	8	1320	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	404					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R404C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGAGCTGAGACGCCTGAATCC	0.582																																					p.R404C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210T	17						.	C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	71.0	60.0	64.0		1210	-0.1	0.6	17	dbSNP_134	64	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	404/716	56276490	2,13004	2203	4300	6503	53631489	SO:0001583	missense	8288	exon8			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1210C>T	17.37:g.56276490C>T	ENSP00000225371:p.Arg404Cys		53631489	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311242	0.60414	4.54E-4	0.0	ENSG00000121053	ENST00000225371	T	0.69926	-0.44	5.7	-0.0541	0.13815	.	0.551522	0.20336	N	0.094322	T	0.77745	0.4176	M	0.88704	2.975	0.09310	N	0.999997	D	0.65815	0.995	P	0.62740	0.906	T	0.66528	-0.5901	10	0.72032	D	0.01	-3.2052	5.0267	0.14389	0.4187:0.426:0.0:0.1553	.	404	P11678	PERE_HUMAN	C	404	ENSP00000225371:R404C	ENSP00000225371:R404C	R	+	1	0	EPX	53631489	0.000000	0.05858	0.596000	0.28811	0.866000	0.49608	0.050000	0.14120	0.066000	0.16515	0.655000	0.94253	CGC		0.582	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
ZNF407	55628	broad.mit.edu	37	18	72589311	72589311	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr18:72589311C>T	ENST00000299687.5	+	4	5036	c.5036C>T	c.(5035-5037)aCg>aTg	p.T1679M	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.T1679M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T1679M(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACTACAGGACGCACACAGGT	0.537																																					p.T1679M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5036T	18						.						87.0	89.0	88.0					18																	72589311		1953	4148	6101	70718299	SO:0001583	missense	55628	exon4			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5036C>T	18.37:g.72589311C>T	ENSP00000299687:p.Thr1679Met		70718299	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948100	0.92593	.	.	ENSG00000215421	ENST00000299687	T	0.16743	2.32	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.37404	0.1002	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00236	-1.1891	10	0.41790	T	0.15	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	1679;1679	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	M	1679	ENSP00000299687:T1679M	ENSP00000299687:T1679M	T	+	2	0	ZNF407	70718299	1.000000	0.71417	0.851000	0.33527	0.998000	0.95712	7.465000	0.80898	-1.037000	0.03283	0.655000	0.94253	ACG		0.537	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
GNA15	2769	broad.mit.edu	37	19	3151799	3151799	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:3151799G>A	ENST00000262958.3	+	4	838	c.580G>A	c.(580-582)Gag>Aag	p.E194K	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	194					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E194K(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TGGCATCAACGAGTACTGCTT	0.637																																					p.E194K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	19						.						108.0	93.0	98.0					19																	3151799		2203	4300	6503	3102799	SO:0001583	missense	2769	exon4				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.580G>A	19.37:g.3151799G>A	ENSP00000262958:p.Glu194Lys		3102799	NM_002068	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342227	0.95783	.	.	ENSG00000060558	ENST00000262958	D	0.91792	-2.91	4.59	4.59	0.56863	.	0.129534	0.51477	D	0.000095	D	0.96436	0.8837	M	0.88979	2.995	0.50813	D	0.999898	D	0.89917	1.0	D	0.97110	1.0	D	0.97258	0.9902	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	194	P30679	GNA15_HUMAN	K	194	ENSP00000262958:E194K	ENSP00000262958:E194K	E	+	1	0	GNA15	3102799	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.435000	0.59941	2.093000	0.63338	0.546000	0.68486	GAG		0.637	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068	
DNMT1	1786	broad.mit.edu	37	19	10267124	10267124	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:10267124C>T	ENST00000340748.4	-	17	1529	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	DNMT1_ENST00000359526.4_Missense_Mutation_p.E448K|DNMT1_ENST00000540357.1_Missense_Mutation_p.E432K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	432	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E432K(3)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AAGAAGAGTTCGATATTCTTC	0.453																																					p.E448K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1342A	19						.						127.0	111.0	116.0					19																	10267124		2203	4300	6503	10128124	SO:0001583	missense	1786	exon18			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1294G>A	19.37:g.10267124C>T	ENSP00000345739:p.Glu432Lys		10128124	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535860	0.27475	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.77620	-1.11;-1.11;-1.11	5.65	3.53	0.40419	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.051080	0.85682	N	0.000000	T	0.76564	0.4005	M	0.80982	2.52	0.53688	D	0.999976	B;B;B	0.25351	0.102;0.102;0.124	B;B;B	0.24269	0.031;0.031;0.052	T	0.73792	-0.3871	10	0.45353	T	0.12	.	10.6514	0.45651	0.0:0.7946:0.1332:0.0722	.	432;448;432	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	K	448;432;432;300	ENSP00000352516:E448K;ENSP00000440457:E432K;ENSP00000345739:E432K	ENSP00000345739:E432K	E	-	1	0	DNMT1	10128124	1.000000	0.71417	0.043000	0.18650	0.281000	0.26958	4.721000	0.61951	0.933000	0.37291	0.655000	0.94253	GAA		0.453	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
RYR1	6261	broad.mit.edu	37	19	38939072	38939072	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:38939072C>A	ENST00000359596.3	+	10	878	c.878C>A	c.(877-879)aCc>aAc	p.T293N	RYR1_ENST00000360985.3_Missense_Mutation_p.T293N|RYR1_ENST00000355481.4_Missense_Mutation_p.T293N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	293	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T293N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTAGCGCTCACCGAGGACCAG	0.652																																					p.T293N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C878A	19						.						116.0	110.0	112.0					19																	38939072		2203	4300	6503	43630912	SO:0001583	missense	6261	exon10			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.878C>A	19.37:g.38939072C>A	ENSP00000352608:p.Thr293Asn		43630912	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	6.005	0.369322	0.11352	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.86432	-2.12;-2.12;-2.12	4.43	2.19	0.27852	MIR motif (2);MIR (2);	0.161726	0.38548	U	0.001641	T	0.69780	0.3149	N	0.17278	0.47	0.26116	N	0.980611	P;B	0.39311	0.667;0.392	B;B	0.37989	0.262;0.18	T	0.61143	-0.7122	10	0.10636	T	0.68	.	3.4938	0.07648	0.1717:0.5629:0.1669:0.0984	.	293;293	P21817-2;P21817	.;RYR1_HUMAN	N	293	ENSP00000352608:T293N;ENSP00000347667:T293N;ENSP00000354254:T293N	ENSP00000347667:T293N	T	+	2	0	RYR1	43630912	0.102000	0.21896	0.909000	0.35828	0.295000	0.27426	0.583000	0.23849	0.441000	0.26529	0.491000	0.48974	ACC		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
XRCC1	7515	broad.mit.edu	37	19	44055751	44055751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:44055751G>A	ENST00000262887.5	-	10	1718	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	XRCC1_ENST00000543982.1_Missense_Mutation_p.R360C|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	391	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.R391C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CGACGCATGCGGTGACAGTCC	0.642								Other BER factors																													p.R391C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	19						.						77.0	70.0	72.0					19																	44055751		2203	4300	6503	48747591	SO:0001583	missense	7515	exon10			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1171C>T	19.37:g.44055751G>A	ENSP00000262887:p.Arg391Cys		48747591	NM_006297	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595258	0.86953	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.12039	2.77;2.72	5.16	5.16	0.70880	BRCT (3);	0.119947	0.56097	D	0.000035	T	0.22126	0.0533	L	0.45352	1.415	0.46113	D	0.998876	D;P	0.64830	0.994;0.956	P;P	0.55011	0.766;0.624	T	0.00096	-1.2075	10	0.72032	D	0.01	-17.6445	11.9356	0.52872	0.0:0.0:0.8259:0.1741	.	360;391	F5H8D7;P18887	.;XRCC1_HUMAN	C	405;391;360	ENSP00000262887:R391C;ENSP00000443671:R360C	ENSP00000262887:R391C	R	-	1	0	XRCC1	48747591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.719000	0.68462	2.774000	0.95407	0.655000	0.94253	CGC		0.642	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	
ZNF226	7769	broad.mit.edu	37	19	44681372	44681372	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:44681372G>A	ENST00000590089.1	+	7	2324	c.1957G>A	c.(1957-1959)Ggt>Agt	p.G653S	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.G653S|ZNF226_ENST00000337433.5_Missense_Mutation_p.G653S			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G653S(1)					Prostate(69;0.0352)|all_neural(266;0.202)				GAAGAGTTTCGGTCGGAGTGC	0.478																																					p.G653S	Pancreas(115;581 1665 13228 19278 50070)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1957A	19						.						79.0	85.0	83.0					19																	44681372		2196	4295	6491	49373212	SO:0001583	missense	7769	exon6			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1957G>A	19.37:g.44681372G>A	ENSP00000465121:p.Gly653Ser		49373212	NM_001032372	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224564	0.06061	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07114	3.22;3.22	3.89	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.248955	0.21161	N	0.079147	T	0.02610	0.0079	N	0.01631	-0.79	0.25978	N	0.982417	P	0.49253	0.921	P	0.48089	0.566	T	0.31888	-0.9927	10	0.02654	T	1	.	3.5764	0.07936	0.3101:0.1936:0.4964:0.0	.	653	Q9NYT6	ZN226_HUMAN	S	653	ENSP00000336719:G653S;ENSP00000393265:G653S	ENSP00000336719:G653S	G	+	1	0	ZNF226	49373212	0.000000	0.05858	0.996000	0.52242	0.982000	0.71751	-0.306000	0.08178	0.956000	0.37904	0.655000	0.94253	GGT		0.478	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1		
VAV1	7409	broad.mit.edu	37	19	6822292	6822292	+	Silent	SNP	C	C	T	rs150109367	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:6822292C>T	ENST00000602142.1	+	5	592	c.510C>T	c.(508-510)ggC>ggT	p.G170G	VAV1_ENST00000599806.1_Silent_p.G115G|VAV1_ENST00000304076.2_Silent_p.G170G|VAV1_ENST00000596764.1_Silent_p.G170G|VAV1_ENST00000539284.1_Silent_p.G105G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	170					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G170G(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGCGGAAGGCGACGAGATCT	0.662													C|||	5	0.000998403	0.003	0.0014	5008	,	,		14840	0.0		0.0	False		,,,				2504	0.0				p.G170G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510T	19						.	C		27,4375		0,27,2174	112.0	82.0	92.0		510	-8.4	0.5	19	dbSNP_134	92	0,8596		0,0,4298	no	coding-synonymous	VAV1	NM_005428.2		0,27,6472	TT,TC,CC		0.0,0.6134,0.2077		170/846	6822292	27,12971	2201	4298	6499	6773292	SO:0001819	synonymous_variant	7409	exon5				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.510C>T	19.37:g.6822292C>T			6773292	NM_005428	B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.662	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
ZNF671	79891	broad.mit.edu	37	19	58232422	58232422	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr19:58232422G>A	ENST00000317398.6	-	4	1127	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S246S|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	344					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.S344S(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCCACATTCGCTGCACTCGT	0.458																																					p.S344S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	19						.						86.0	80.0	82.0					19																	58232422		2203	4300	6503	62924234	SO:0001819	synonymous_variant	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1032C>T	19.37:g.58232422G>A			62924234	NM_024833	A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	CCDS12961.1																																																																																				0.458	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ARV1	64801	broad.mit.edu	37	1	231125879	231125880	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	-	-	-	TG	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:231125879_231125880insTG	ENST00000310256.2	+	3	375_376	c.318_319insTG	c.(319-321)tgtfs	p.C107fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.C67fs|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	107					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.L108fs*8(1)		breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCTGCATATTTTGTTTGCTTTG	0.411																																					p.F106fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.318_319insTG	1						.																																			229192503	SO:0001589	frameshift_variant	64801	exon3			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.319_320dupTG	1.37:g.231125880_231125881dupTG	ENSP00000312458:p.Cys107fs		229192502	NM_022786	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Ins	INS	ENST00000310256.2	37	CCDS1589.1																																																																																				0.411	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
CSF1	1435	broad.mit.edu	37	1	110466190	110466190	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:110466190C>A	ENST00000329608.6	+	6	1338	c.947C>A	c.(946-948)cCc>cAc	p.P316H	CSF1_ENST00000344188.5_Missense_Mutation_p.P316H|CSF1_ENST00000369801.1_Missense_Mutation_p.P316H|CSF1_ENST00000369802.3_Missense_Mutation_p.P316H|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	316					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.P316H(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGAGATTCCCGTACCCCAA	0.592											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P316H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947A	1						.						40.0	42.0	42.0					1																	110466190		2203	4300	6503	110267713	SO:0001583	missense	1435	exon6			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.947C>A	1.37:g.110466190C>A	ENSP00000327513:p.Pro316His	1427	110267713	NM_172210	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388932	0.42308	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	4.42	3.17	0.36434	.	0.866110	0.09929	N	0.737523	T	0.15046	0.0363	L	0.57536	1.79	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.935	T	0.12293	-1.0553	10	0.39692	T	0.17	.	7.6816	0.28518	0.0:0.8362:0.0:0.1638	.	316;316	P09603;P09603-2	CSF1_HUMAN;.	H	316;316;275;316;316	ENSP00000342718:P316H;ENSP00000327513:P316H;ENSP00000433837:P275H;ENSP00000358817:P316H;ENSP00000358816:P316H	ENSP00000327513:P316H	P	+	2	0	CSF1	110267713	0.000000	0.05858	0.013000	0.15412	0.042000	0.13812	0.425000	0.21346	0.626000	0.30322	0.313000	0.20887	CCC		0.592	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757	
KCNA3	3738	broad.mit.edu	37	1	111216578	111216578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:111216578C>T	ENST00000369769.2	-	1	1077	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	285					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R285H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGCTCCTGCGCGGGACCCCGA	0.627																																					p.R285H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854A	1						.						56.0	58.0	57.0					1																	111216578		2203	4300	6503	111018101	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.854G>A	1.37:g.111216578C>T	ENSP00000358784:p.Arg285His		111018101	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	1.032	-0.681504	0.03353	.	.	ENSG00000177272	ENST00000369769	D	0.97041	-4.22	4.89	2.93	0.34026	.	0.547883	0.18067	U	0.152746	D	0.83464	0.5260	N	0.04203	-0.255	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.77335	-0.2626	10	0.36615	T	0.2	.	10.3285	0.43807	0.0:0.2759:0.5824:0.1417	.	285	P22001	KCNA3_HUMAN	H	285	ENSP00000358784:R285H	ENSP00000358784:R285H	R	-	2	0	KCNA3	111018101	0.000000	0.05858	0.033000	0.17914	0.029000	0.11900	0.648000	0.24828	1.058000	0.40530	-0.128000	0.14901	CGC		0.627	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
NOTCH2	4853	broad.mit.edu	37	1	120468284	120468284	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:120468284G>A	ENST00000256646.2	-	25	4374	c.4155C>T	c.(4153-4155)caC>caT	p.H1385H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1385	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.H1385H(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGCCCCCGTGCTGGCAGG	0.672			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.H1385H			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4155T	1						.						28.0	28.0	28.0					1																	120468284		2193	4283	6476	120269807	SO:0001819	synonymous_variant	4853	exon25	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4155C>T	1.37:g.120468284G>A			120269807	NM_024408	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.672	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
IGSF21	84966	broad.mit.edu	37	1	18691749	18691749	+	Silent	SNP	C	C	T	rs200202176		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:18691749C>T	ENST00000251296.1	+	6	956	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	191						extracellular region (GO:0005576)		p.D191D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AACCAATCGACGCAGTGCCCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17254	0.0		0.0	False		,,,				2504	0.0				p.D191D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	1						.						51.0	53.0	52.0					1																	18691749		2203	4300	6503	18564336	SO:0001819	synonymous_variant	84966	exon6			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.573C>T	1.37:g.18691749C>T			18564336	NM_032880	Q8NBR8	Silent	SNP	ENST00000251296.1	37	CCDS184.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.050	-1.253326	0.01457	.	.	ENSG00000117154	ENST00000412684	.	.	.	4.76	-9.52	0.00578	.	.	.	.	.	T	0.49047	0.1534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60037	-0.7341	4	.	.	.	-9.2402	10.2142	0.43158	0.0803:0.5947:0.21:0.115	.	.	.	.	C	144	.	.	R	+	1	0	IGSF21	18564336	0.000000	0.05858	0.086000	0.20670	0.082000	0.17680	-3.076000	0.00616	-2.523000	0.00496	-0.459000	0.05422	CGC		0.552	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880	
FLG	2312	broad.mit.edu	37	1	152275546	152275546	+	Missense_Mutation	SNP	G	G	A	rs200826810		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:152275546G>A	ENST00000368799.1	-	3	11851	c.11816C>T	c.(11815-11817)gCg>gTg	p.A3939V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3939	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A3939V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGATACGCAGAATCTTG	0.443									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		22701	0.001		0.0	False		,,,				2504	0.0				p.A3939V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11816T	1						.						146.0	140.0	142.0					1																	152275546		2203	4300	6503	150542170	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11816C>T	1.37:g.152275546G>A	ENSP00000357789:p.Ala3939Val		150542170	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.261	-0.369252	0.05069	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.19	-4.37	0.03633	.	.	.	.	.	T	0.00384	0.0012	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	P	0.44647	0.456	T	0.32428	-0.9907	9	0.23302	T	0.38	.	1.9217	0.03309	0.1288:0.148:0.3774:0.3458	.	3939	P20930	FILA_HUMAN	V	3939	ENSP00000357789:A3939V	ENSP00000357789:A3939V	A	-	2	0	FLG	150542170	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.111000	0.00293	-2.833000	0.00338	-0.825000	0.03093	GCG		0.443	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NFASC	23114	broad.mit.edu	37	1	204978800	204978800	+	Silent	SNP	C	C	T	rs147568795		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:204978800C>T	ENST00000401399.1	+	27	3604	c.3405C>T	c.(3403-3405)cgC>cgT	p.R1135R	NFASC_ENST00000360049.4_Silent_p.R1064R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Silent_p.R1135R|NFASC_ENST00000367169.4_Silent_p.R966R|NFASC_ENST00000367171.4_Silent_p.R1227R|NFASC_ENST00000539706.1_Silent_p.R1069R|NFASC_ENST00000404907.1_Silent_p.R1069R|NFASC_ENST00000338586.6_Silent_p.R1119R|NFASC_ENST00000404076.1_Silent_p.R1052R|NFASC_ENST00000367170.4_Silent_p.R1163R|NFASC_ENST00000367172.4_Silent_p.R1242R|NFASC_ENST00000513543.1_Silent_p.R1064R|NFASC_ENST00000338515.6_Silent_p.R1152R			O94856	NFASC_HUMAN	neurofascin	1242	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.R1064R(1)|p.R1135R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGGAGTCGCGGCGGCAAGT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17084	0.0		0.0	False		,,,				2504	0.001				p.R1084R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3252T	1						.	C	,,,	0,4406		0,0,2203	63.0	50.0	54.0		3405,3252,3207,3192	-10.5	0.2	1	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001160331.1,NM_001160332.1,NM_015090.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1135/1241,1084/1190,1069/1175,1064/1170	204978800	1,13005	2203	4300	6503	203245423	SO:0001819	synonymous_variant	23114	exon25			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3405C>T	1.37:g.204978800C>T			203245423	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.527|9.527	1.109750|1.109750	0.20714|0.20714	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000413225	.|D	.|0.89810	.|-2.57	5.27|5.27	-10.5|-10.5	0.00291|0.00291	.|.	.|0.148491	.|0.30109	.|N	.|0.010394	D|D	0.84946|0.84946	0.5585|0.5585	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.80327|0.80327	-0.1429|-0.1429	4|7	.|0.87932	.|D	.|0	.|.	3.1008|3.1008	0.06325|0.06325	0.2524:0.2222:0.0617:0.4637|0.2524:0.2222:0.0617:0.4637	.|.	.|.	.|.	.|.	V|W	936;193|182	.|ENSP00000393290:R182W	.|ENSP00000393290:R182W	A|R	+|+	2|1	0|2	NFASC|NFASC	203245423|203245423	0.000000|0.000000	0.05858|0.05858	0.245000|0.245000	0.24217|0.24217	0.989000|0.989000	0.77384|0.77384	-2.915000|-2.915000	0.00696|0.00696	-2.766000|-2.766000	0.00367|0.00367	-0.812000|-0.812000	0.03155|0.03155	GCG|CGG		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
KIF2C	11004	broad.mit.edu	37	1	45221902	45221902	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:45221902G>A	ENST00000372224.4	+	10	1083	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	KIF2C_ENST00000493027.1_3'UTR|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372217.1_Missense_Mutation_p.V270I|KIF2C_ENST00000372222.3_Missense_Mutation_p.V211I|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.V283I	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	324	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.V324I(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAATGAAGTTGTCTACAGGTT	0.438																																					p.V324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	1						.						215.0	209.0	211.0					1																	45221902		2203	4300	6503	44994489	SO:0001583	missense	11004	exon10			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.970G>A	1.37:g.45221902G>A	ENSP00000361298:p.Val324Ile		44994489	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327151	0.81690	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.93	5.93	0.95920	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	L	0.38838	1.175	0.80722	D	1	P;P;P	0.45768	0.866;0.569;0.866	P;P;P	0.60345	0.873;0.638;0.873	T	0.03068	-1.1076	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	283;270;324	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	I	283;324;283;211;270	ENSP00000410346:V283I;ENSP00000361298:V324I;ENSP00000361292:V283I;ENSP00000361296:V211I;ENSP00000361291:V270I	ENSP00000361291:V270I	V	+	1	0	KIF2C	44994489	1.000000	0.71417	0.990000	0.47175	0.071000	0.16799	6.775000	0.75018	2.808000	0.96608	0.655000	0.94253	GTC		0.438	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
RYR2	6262	broad.mit.edu	37	1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr1:237947200C>T	ENST00000366574.2	+	90	12505	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_ENST00000542537.1_Missense_Mutation_p.T4047M|RYR2_ENST00000360064.6_Missense_Mutation_p.T4069M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4063					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4061M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCAGAAACGGAATTTCTT	0.483																																					p.T4063M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12188T	1						.						38.0	37.0	38.0					1																	237947200		1982	4154	6136	236013823	SO:0001583	missense	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12188C>T	1.37:g.237947200C>T	ENSP00000355533:p.Thr4063Met		236013823	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881609	0.17467	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.82255	-1.59;-1.59;-1.59	5.85	5.85	0.93711	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70193	0.3196	N	0.00841	-1.15	0.80722	D	1	P;D	0.69078	0.58;0.997	B;P	0.55923	0.182;0.787	T	0.78086	-0.2341	10	0.38643	T	0.18	.	13.3656	0.60682	0.0:0.9283:0.0:0.0717	.	1037;4063	B4DGV4;Q92736	.;RYR2_HUMAN	M	4063;4069;4047;1037	ENSP00000355533:T4063M;ENSP00000353174:T4069M;ENSP00000443798:T4047M	ENSP00000353174:T4069M	T	+	2	0	RYR2	236013823	0.986000	0.35501	0.496000	0.27539	0.107000	0.19398	2.677000	0.46892	2.767000	0.95098	0.655000	0.94253	ACG		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PTPRT	11122	broad.mit.edu	37	20	40735472	40735472	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr20:40735472C>T	ENST00000373187.1	-	24	3343	c.3344G>A	c.(3343-3345)tGc>tAc	p.C1115Y	PTPRT_ENST00000373190.1_Missense_Mutation_p.C1114Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.C1134Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.C1125Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.C1124Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.C1105Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.C1118Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.C1137Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCACGCACGCAGTTGAAGAT	0.587																																					p.C1134Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3401A	20						.						95.0	106.0	102.0					20																	40735472		2120	4239	6359	40168886	SO:0001583	missense	11122	exon25			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3344G>A	20.37:g.40735472C>T	ENSP00000362283:p.Cys1115Tyr		40168886	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889463	0.91889	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48293	-0.9048	10	0.87932	D	0	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1137;1115	O14522-1;O14522	.;PTPRT_HUMAN	Y	1114;1115;1118;1124;1137;1125;1105	ENSP00000362286:C1114Y;ENSP00000362283:C1115Y;ENSP00000362289:C1118Y;ENSP00000348408:C1124Y;ENSP00000362294:C1137Y;ENSP00000362280:C1125Y;ENSP00000362297:C1105Y	ENSP00000348408:C1124Y	C	-	2	0	PTPRT	40168886	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.697000	0.92050	0.591000	0.81541	TGC		0.587	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ADNP	23394	broad.mit.edu	37	20	49508090	49508090	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr20:49508090T>C	ENST00000396029.3	-	5	3728	c.3161A>G	c.(3160-3162)gAt>gGt	p.D1054G	ADNP_ENST00000396032.3_Missense_Mutation_p.D1054G|ADNP_ENST00000371602.4_Missense_Mutation_p.D1054G|ADNP_ENST00000349014.3_Missense_Mutation_p.D1054G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1054					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1054G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGCGCTCATCATTCTCAGA	0.458																																					p.D1054G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3161G	20						.						167.0	154.0	159.0					20																	49508090		2203	4300	6503	48941497	SO:0001583	missense	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3161A>G	20.37:g.49508090T>C	ENSP00000379346:p.Asp1054Gly		48941497	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	8.108	0.778265	0.16120	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.02	3.65	0.41850	.	0.390200	0.24836	N	0.035211	T	0.29256	0.0728	N	0.14661	0.345	0.30788	N	0.741203	B	0.16603	0.018	B	0.12156	0.007	T	0.19289	-1.0310	9	0.56958	D	0.05	-15.9935	8.6266	0.33892	0.0:0.0672:0.1668:0.7659	.	1054	Q9H2P0	ADNP_HUMAN	G	1054	.	ENSP00000342905:D1054G	D	-	2	0	ADNP	48941497	1.000000	0.71417	0.738000	0.30950	0.779000	0.44077	3.587000	0.53957	0.449000	0.26747	0.533000	0.62120	GAT		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
CDH4	1002	broad.mit.edu	37	20	60503271	60503271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr20:60503271G>A	ENST00000360469.5	+	12	1883	c.1795G>A	c.(1795-1797)Ggg>Agg	p.G599R	CDH4_ENST00000543233.1_Missense_Mutation_p.G525R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	599	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G599R(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAGCGGCACCGGGACCCTCCA	0.607																																					p.G599R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1795A	20						.						112.0	124.0	120.0					20																	60503271		2203	4300	6503	59936666	SO:0001583	missense	1002	exon12			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1795G>A	20.37:g.60503271G>A	ENSP00000353656:p.Gly599Arg		59936666	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533134	0.64972	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53857	0.6;0.6	4.7	4.7	0.59300	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77461	-0.2579	9	.	.	.	.	17.6111	0.88053	0.0:0.0:1.0:0.0	.	599	P55283	CADH4_HUMAN	R	599;507;525	ENSP00000353656:G599R;ENSP00000443301:G525R	.	G	+	1	0	CDH4	59936666	1.000000	0.71417	0.944000	0.38274	0.061000	0.15899	9.503000	0.97984	2.132000	0.65825	0.563000	0.77884	GGG		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TIAM1	7074	broad.mit.edu	37	21	32526578	32526578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr21:32526578C>T	ENST00000286827.3	-	18	3629	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R993H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1053	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1053H(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CACGTAGGTGCGCTCCGTCTC	0.547																																					p.R1053H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3158A	21						.						66.0	61.0	63.0					21																	32526578		2203	4300	6503	31448449	SO:0001583	missense	7074	exon18				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3158G>A	21.37:g.32526578C>T	ENSP00000286827:p.Arg1053His		31448449	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354539	0.95854	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67523	-0.27;-0.27	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69307	0.937;0.963;0.963	D	0.85264	0.1052	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	993;993;1053	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	1053;894;993	ENSP00000286827:R1053H;ENSP00000441570:R993H	ENSP00000286827:R1053H	R	-	2	0	TIAM1	31448449	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	CGC		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
MX2	4600	broad.mit.edu	37	21	42752029	42752029	+	Silent	SNP	C	C	T	rs142362549	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr21:42752029C>T	ENST00000330714.3	+	4	712	c.528C>T	c.(526-528)acC>acT	p.T176T	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	176	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T176T(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACCGGAACACCGAGCTAGAGC	0.572													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19578	0.0		0.0	False		,,,				2504	0.0				p.T176T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C528T	21						.	C		20,4386	27.2+/-55.0	0,20,2183	106.0	97.0	100.0		528	-5.2	0.0	21	dbSNP_134	100	0,8600		0,0,4300	yes	coding-synonymous	MX2	NM_002463.1		0,20,6483	TT,TC,CC		0.0,0.4539,0.1538		176/716	42752029	20,12986	2203	4300	6503	41673899	SO:0001819	synonymous_variant	4600	exon4				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.528C>T	21.37:g.42752029C>T			41673899	NM_002463	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	CCDS13672.1																																																																																				0.572	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
COL18A1	80781	broad.mit.edu	37	21	46875638	46875638	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr21:46875638delC	ENST00000359759.4	+	1	215	c.194delC	c.(193-195)accfs	p.T65fs	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.T65fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	65					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACACACGTGACCCCCCGGAAT	0.637																																					p.T65fs												.	.	0			c.194delC	21						.						54.0	70.0	65.0					21																	46875638		2089	4207	6296	45700066	SO:0001589	frameshift_variant	80781	exon1				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.194delC	21.37:g.46875638delC	ENSP00000352798:p.Thr65fs		45700066	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37																																																																																					0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
PNPLA3	80339	broad.mit.edu	37	22	44322961	44322961	+	Missense_Mutation	SNP	G	G	A	rs372035117		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr22:44322961G>A	ENST00000216180.3	+	2	507	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	PNPLA3_ENST00000423180.2_Missense_Mutation_p.G108S|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	112	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.G112S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GCTCATCTCCGGCAAAATAGG	0.502																																					p.G112S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	22						.	G	SER/GLY	0,4406		0,0,2203	87.0	77.0	81.0		334	5.5	0.7	22		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNPLA3	NM_025225.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	112/482	44322961	1,13005	2203	4300	6503	42654294	SO:0001583	missense	80339	exon2				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.334G>A	22.37:g.44322961G>A	ENSP00000216180:p.Gly112Ser		42654294	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062510	0.76187	0.0	1.16E-4	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.78003	-1.14;-1.09	5.5	5.5	0.81552	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.070737	0.53938	D	0.000044	D	0.90147	0.6921	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91620	0.5310	10	0.72032	D	0.01	-34.0159	17.9786	0.89133	0.0:0.0:1.0:0.0	.	112	Q9NST1	PLPL3_HUMAN	S	112;108	ENSP00000216180:G112S;ENSP00000397987:G108S	ENSP00000216180:G112S	G	+	1	0	PNPLA3	42654294	1.000000	0.71417	0.690000	0.30148	0.014000	0.08584	5.838000	0.69388	2.568000	0.86640	0.643000	0.83706	GGC		0.502	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
CNTNAP5	129684	broad.mit.edu	37	2	125262115	125262115	+	Missense_Mutation	SNP	G	G	A	rs145480371	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:125262115G>A	ENST00000431078.1	+	8	1670	c.1306G>A	c.(1306-1308)Gta>Ata	p.V436I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	436	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V436I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGAACGCGTAGCTGAAAT	0.498													G|||	7	0.00139776	0.0053	0.0	5008	,	,		16306	0.0		0.0	False		,,,				2504	0.0				p.V436I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306A	2						.						56.0	59.0	58.0					2																	125262115		1960	4159	6119	124978585	SO:0001583	missense	129684	exon8			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1306G>A	2.37:g.125262115G>A	ENSP00000399013:p.Val436Ile		124978585	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	1.169	-0.641530	0.03531	.	.	ENSG00000155052	ENST00000431078	T	0.79141	-1.24	5.64	-1.28	0.09318	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.376740	0.05445	N	0.548332	T	0.47525	0.1450	N	0.12746	0.255	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.30268	-0.9984	10	0.31617	T	0.26	.	1.0926	0.01666	0.395:0.2261:0.2332:0.1458	.	436	Q8WYK1	CNTP5_HUMAN	I	436	ENSP00000399013:V436I	ENSP00000399013:V436I	V	+	1	0	CNTNAP5	124978585	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.371000	0.07513	-0.138000	0.11434	-0.172000	0.13284	GTA		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CYP27C1	339761	broad.mit.edu	37	2	127958761	127958761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:127958761G>A	ENST00000335247.7	-	3	455	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R109C	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	109						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R109C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATGAAGGGGCGAAGCCATCTG	0.527																																					p.R109C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325T	2						.						106.0	112.0	110.0					2																	127958761		2203	4300	6503	127675231	SO:0001583	missense	339761	exon3			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.325C>T	2.37:g.127958761G>A	ENSP00000334128:p.Arg109Cys		127675231	NM_001001665	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697608	0.68386	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69926	-0.44;-0.44	3.91	3.91	0.45181	.	0.063262	0.64402	D	0.000004	D	0.82458	0.5041	M	0.82323	2.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.86369	0.1722	10	0.87932	D	0	-8.1559	15.9058	0.79427	0.0:0.0:1.0:0.0	.	109	Q4G0S4	C27C1_HUMAN	C	109	ENSP00000334128:R109C;ENSP00000387198:R109C	ENSP00000334128:R109C	R	-	1	0	CYP27C1	127675231	1.000000	0.71417	0.194000	0.23346	0.586000	0.36452	5.044000	0.64214	1.726000	0.51525	0.462000	0.41574	CGC		0.527	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	
SCN2A	6326	broad.mit.edu	37	2	166172209	166172209	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:166172209C>T	ENST00000375437.2	+	11	1902	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C	SCN2A_ENST00000283256.6_Missense_Mutation_p.R538C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R538C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R538C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	538					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R538C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAAGGTTTCCGTTTTTCCTT	0.338																																					p.R538C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1612T	2						.						70.0	74.0	73.0					2																	166172209		2203	4299	6502	165880455	SO:0001583	missense	6326	exon10			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1612C>T	2.37:g.166172209C>T	ENSP00000364586:p.Arg538Cys		165880455	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497236	0.85069	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.9	5.9	0.94986	Domain of unknown function DUF3451 (1);	0.089178	0.49916	D	0.000131	D	0.97294	0.9115	M	0.66506	2.035	0.80722	D	1	D;D	0.71674	0.993;0.998	D;P	0.63283	0.913;0.893	D	0.96719	0.9531	9	.	.	.	.	15.0444	0.71816	0.142:0.858:0.0:0.0	.	538;538	Q99250-2;Q99250	.;SCN2A_HUMAN	C	538	ENSP00000364586:R538C;ENSP00000349973:R538C;ENSP00000283256:R538C;ENSP00000364576:R538C	.	R	+	1	0	SCN2A	165880455	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.623000	0.54224	2.788000	0.95919	0.650000	0.86243	CGT		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
TTN	7273	broad.mit.edu	37	2	179413138	179413138	+	Missense_Mutation	SNP	C	C	T	rs141817409	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:179413138C>T	ENST00000591111.1	-	289	88516	c.88292G>A	c.(88291-88293)cGt>cAt	p.R29431H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22132H|TTN_ENST00000460472.2_Missense_Mutation_p.R22007H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22199H|TTN_ENST00000342992.6_Missense_Mutation_p.R28504H|TTN_ENST00000589042.1_Missense_Mutation_p.R31072H			Q8WZ42	TITIN_HUMAN	titin	29431	Fibronectin type-III 114. {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.R22007H(1)|p.R22199H(1)|p.R28502H(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)			GAAGATCTGACGAGTGCATTT	0.488													C|||	4	0.000798722	0.003	0.0	5008	,	,		24118	0.0		0.0	False		,,,				2504	0.0				p.V22007I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G66019A	2						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	5,4063		0,5,2029	215.0	215.0	215.0		66020,85511,66395,66596	5.7	1.0	2	dbSNP_134	215	0,8348		0,0,4174	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,5,6203	TT,TC,CC		0.0,0.1229,0.0403	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	22007/26927,28504/33424,22132/27052,22199/27119	179413138	5,12411	2034	4174	6208	179121384	SO:0001583	missense	7273	exon167			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.88292G>A	2.37:g.179413138C>T	ENSP00000465570:p.Arg29431His		179121384	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		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	17.32	3.359254	0.61403	0.001229	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49115	0.1538	L	0.60845	1.875	0.53005	D	0.999969	P;P;P;P	0.42556	0.641;0.641;0.641;0.783	B;B;B;B	0.42555	0.165;0.165;0.165;0.391	T	0.59679	-0.7409	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22007;22132;22199;29431	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28504;22007;22199;22132;22004	ENSP00000343764:R28504H;ENSP00000434586:R22007H;ENSP00000340554:R22199H;ENSP00000352154:R22132H	ENSP00000340554:R22199H	R	-	2	0	TTN	179121384	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.066000	0.71185	2.646000	0.89796	0.655000	0.94253	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CFLAR	8837	broad.mit.edu	37	2	202025238	202025238	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:202025238C>A	ENST00000309955.3	+	9	1392	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I|CFLAR_ENST00000355558.4_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	293	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.L293V(1)|p.L293I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498																																					p.L293I	Pancreas(16;548 657 22190 32864 42338)											.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.C877A	2						.						192.0	172.0	179.0					2																	202025238		2203	4300	6503	201733483	SO:0001583	missense	8837	exon9			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.877C>A	2.37:g.202025238C>A	ENSP00000312455:p.Leu293Ile		201733483	NM_001127183	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572750	0.65765	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53	5.62	4.73	0.59995	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.130249	0.49916	D	0.000122	T	0.16896	0.0406	M	0.70842	2.15	0.21915	N	0.999471	P;D;P;D	0.76494	0.945;0.999;0.951;0.997	P;P;P;P	0.62813	0.858;0.907;0.527;0.906	T	0.13072	-1.0523	10	0.54805	T	0.06	-8.8723	4.9307	0.13916	0.0:0.6115:0.2018:0.1867	.	197;293;258;293	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	I	293;197;293;179;258;293;293	ENSP00000312455:L293I;ENSP00000413270:L197I;ENSP00000339326:L293I;ENSP00000345807:L258I;ENSP00000399420:L293I;ENSP00000411535:L293I	ENSP00000312455:L293I	L	+	1	0	CFLAR	201733483	0.854000	0.29725	0.037000	0.18230	0.008000	0.06430	1.776000	0.38594	1.332000	0.45431	0.561000	0.74099	CTT		0.498	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879	
MAP2	4133	broad.mit.edu	37	2	210559056	210559056	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:210559056G>T	ENST00000360351.4	+	7	2668	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G717V|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	721					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.G721V(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)	TTTGGTCGGGGACATGATCTT	0.468																																					p.G721V	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2162T	2						.						196.0	190.0	192.0					2																	210559056		2203	4300	6503	210267301	SO:0001583	missense	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.2162G>T	2.37:g.210559056G>T	ENSP00000353508:p.Gly721Val		210267301	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718412	0.48622	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.31769	1.48;1.48	6.06	5.16	0.70880	MAP2/Tau projection (1);	0.095587	0.46442	D	0.000281	T	0.31702	0.0805	L	0.54323	1.7	0.58432	D	0.999991	P;P	0.41624	0.713;0.757	B;B	0.41036	0.234;0.346	T	0.11817	-1.0572	10	0.72032	D	0.01	-18.3502	10.6805	0.45811	0.0:0.2581:0.6246:0.1174	.	717;721	P11137-3;P11137	.;MAP2_HUMAN	V	721;717	ENSP00000353508:G721V;ENSP00000392164:G717V	ENSP00000353508:G721V	G	+	2	0	MAP2	210267301	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	4.252000	0.58785	1.508000	0.48769	0.650000	0.86243	GGA		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
XDH	7498	broad.mit.edu	37	2	31609389	31609389	+	Silent	SNP	T	T	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:31609389T>A	ENST00000379416.3	-	9	732	c.684A>T	c.(682-684)cgA>cgT	p.R228R	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	228					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R228R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCCCTTCAAATCGCAGCTGCT	0.522																																					p.R228R	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A684T	2						.						122.0	104.0	111.0					2																	31609389		2203	4300	6503	31462893	SO:0001819	synonymous_variant	7498	exon9			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.684A>T	2.37:g.31609389T>A			31462893	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.522	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
PRKD3	23683	broad.mit.edu	37	2	37518110	37518110	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:37518110G>T	ENST00000379066.1	-	4	1222	c.460C>A	c.(460-462)Cca>Aca	p.P154T	PRKD3_ENST00000234179.2_Missense_Mutation_p.P154T			O94806	KPCD3_HUMAN	protein kinase D3	154					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.P154T(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAGTATGTGGACGAATCTGG	0.393																																					p.P154T	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C460A	2						.						157.0	152.0	153.0					2																	37518110		2203	4300	6503	37371614	SO:0001583	missense	23683	exon3			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.460C>A	2.37:g.37518110G>T	ENSP00000368356:p.Pro154Thr		37371614	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455162	0.84209	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.84944	-1.92;-1.92;-1.92	4.83	4.83	0.62350	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.81914	0.995;0.959	D	0.93430	0.6784	10	0.87932	D	0	-14.5588	18.3141	0.90213	0.0:0.0:1.0:0.0	.	154;154	O94806-2;O94806	.;KPCD3_HUMAN	T	154;154;50	ENSP00000368356:P154T;ENSP00000234179:P154T;ENSP00000401839:P50T	ENSP00000234179:P154T	P	-	1	0	PRKD3	37371614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.378000	0.81104	0.650000	0.86243	CCA		0.393	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
TMEM178A	130733	broad.mit.edu	37	2	39944367	39944367	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:39944367G>A	ENST00000281961.2	+	4	926	c.870G>A	c.(868-870)aaG>aaA	p.K290K	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	290						integral component of membrane (GO:0016021)		p.K290K(1)									CACAGCTAAAGTCTGGCAGAG	0.547																																					p.K290K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G870A	2						.						117.0	107.0	111.0					2																	39944367		2203	4300	6503	39797871	SO:0001819	synonymous_variant	130733	exon4			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.870G>A	2.37:g.39944367G>A			39797871	NM_152390	Q6UWI6|Q8N6N4	Silent	SNP	ENST00000281961.2	37	CCDS1804.1																																																																																				0.547	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	
NRXN1	9378	broad.mit.edu	37	2	50282164	50282164	+	Intron	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:50282164C>T	ENST00000406316.2	-	20	5195				NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1286H|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1246H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1238H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1238H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						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.R1287H(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)			AATCGCCAGGCGCTCGTTATC	0.338																																					p.R1286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3857A	2						.						51.0	49.0	50.0					2																	50282164		1567	3582	5149	50135668	SO:0001627	intron_variant	9378	exon21			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.3719-1436G>A	2.37:g.50282164C>T			50135668	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324047	0.41096	.	.	ENSG00000179915	ENST00000404971;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717	T;T;T;T	0.72505	0.07;-0.66;-0.55;-0.25	5.55	5.55	0.83447	.	.	.	.	.	T	0.73289	0.3568	L	0.59436	1.845	0.80722	D	1	D;B	0.61080	0.989;0.006	P;B	0.47626	0.552;0.007	T	0.70378	-0.4888	9	0.27082	T	0.32	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	1286;1238	Q9ULB1-3;A7E294	.;.	H	1286;1238;1246;1287;1238	ENSP00000385142:R1286H;ENSP00000434015:R1238H;ENSP00000385017:R1246H;ENSP00000385434:R1238H	ENSP00000385017:R1246H	R	-	2	0	NRXN1	50135668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.756000	0.94617	0.591000	0.81541	CGC		0.338	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:50318532C>T	ENST00000406316.2	-	19	5123	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1256H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6. {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.R1257H(1)|p.R181H(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)			CCTCGTGAAACGAACTACATG	0.473																																					p.R181H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G542A	2						.						239.0	208.0	218.0					2																	50318532		2203	4300	6503	50172036	SO:0001583	missense	9378	exon3			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.3647G>A	2.37:g.50318532C>T	ENSP00000384311:p.Arg1216His		50172036	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255044	0.59321	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.121992	0.29106	U	0.013137	T	0.78842	0.4347	M	0.85099	2.735	0.37738	D	0.925539	B;P;B;B	0.42039	0.326;0.769;0.081;0.011	B;B;B;B	0.30105	0.027;0.111;0.026;0.007	D	0.85236	0.1035	10	0.62326	D	0.03	.	19.4609	0.94916	0.0:1.0:0.0:0.0	.	1256;181;1216;1208	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	H	181;135;234;1256;1216;1208;1216;1257;1208;1216	ENSP00000341184:R181H;ENSP00000385580:R234H;ENSP00000385142:R1256H;ENSP00000384311:R1216H;ENSP00000434015:R1208H;ENSP00000385017:R1216H;ENSP00000385434:R1208H;ENSP00000385681:R1216H	ENSP00000341184:R181H	R	-	2	0	NRXN1	50172036	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.140000	0.50585	2.600000	0.87896	0.563000	0.77884	CGT		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
MXD1	4084	broad.mit.edu	37	2	70143316	70143316	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:70143316G>A	ENST00000264444.2	+	2	397	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	MXD1_ENST00000540449.1_Missense_Mutation_p.R46Q	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	46					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)	p.R46Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCCTTAAAACGGAGGAACAAA	0.378																																					p.R46Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	2						.						127.0	116.0	120.0					2																	70143316		2203	4300	6503	69996820	SO:0001583	missense	4084	exon2				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.137G>A	2.37:g.70143316G>A	ENSP00000264444:p.Arg46Gln		69996820	NM_002357	B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249314	0.80024	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.48201	1.63;1.63;0.82	4.8	4.8	0.61643	Helix-loop-helix DNA-binding (1);	0.085303	0.47852	D	0.000219	T	0.55321	0.1913	L	0.33189	0.99	0.50171	D	0.999855	D;D;D	0.69078	0.997;0.993;0.993	P;P;P	0.62885	0.908;0.768;0.768	T	0.56998	-0.7886	10	0.54805	T	0.06	.	15.3702	0.74557	0.0:0.0:1.0:0.0	.	46;46;46	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	Q	14;46;46	ENSP00000410672:R14Q;ENSP00000264444:R46Q;ENSP00000443935:R46Q	ENSP00000264444:R46Q	R	+	2	0	MXD1	69996820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.380000	0.59581	2.480000	0.83734	0.491000	0.48974	CGG		0.378	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357	
SCLY	51540	broad.mit.edu	37	2	238990408	238990408	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr2:238990408C>T	ENST00000555827.1	+	5	607	c.543C>T	c.(541-543)ctC>ctT	p.L181L	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000254663.6_Silent_p.L189L|SCLY_ENST00000422984.2_Silent_p.L87L|SCLY_ENST00000409736.2_Silent_p.L181L|SCLY_ENST00000373332.3_Silent_p.L99L			Q96I15	SCLY_HUMAN	selenocysteine lyase	181					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.L181L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACGACATCCTCGCGGCAGTCC	0.562																																					p.L181L	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	2						.						110.0	93.0	99.0					2																	238990408		2203	4300	6503	238655147	SO:0001819	synonymous_variant	51540	exon5			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.543C>T	2.37:g.238990408C>T			238655147	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.561|1.561	-0.536611|-0.536611	0.04082|0.04082	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000431487	.|.	.|.	.|.	5.84|5.84	-5.56|-5.56	0.02529|0.02529	.|.	.|.	.|.	.|.	.|.	T|T	0.44871|0.44871	0.1314|0.1314	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47381|0.47381	-0.9122|-0.9122	4|4	.|.	.|.	.|.	-3.3868|-3.3868	5.0224|5.0224	0.14367|0.14367	0.0657:0.2375:0.1789:0.5179|0.0657:0.2375:0.1789:0.5179	.|.	.|.	.|.	.|.	C|L	25|27	.|.	.|.	R|S	+|+	1|2	0|0	SCLY|SCLY	238655147|238655147	0.064000|0.064000	0.20934|0.20934	0.167000|0.167000	0.22817|0.22817	0.006000|0.006000	0.05464|0.05464	-0.978000|-0.978000	0.03778|0.03778	-0.511000|-0.511000	0.06514|0.06514	-1.202000|-1.202000	0.01658|0.01658	CGC|TCG		0.562	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
EDEM1	9695	broad.mit.edu	37	3	5255023	5255023	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr3:5255023C>A	ENST00000256497.4	+	11	1833	c.1700C>A	c.(1699-1701)cCa>cAa	p.P567Q		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	567					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.P567Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAAGACAATCCAGTACACAAG	0.453																																					p.P567Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700A	3						.						67.0	62.0	63.0					3																	5255023		2203	4300	6503	5230023	SO:0001583	missense	9695	exon11			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1700C>A	3.37:g.5255023C>A	ENSP00000256497:p.Pro567Gln		5230023	NM_014674	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954812	0.92726	.	.	ENSG00000134109	ENST00000256497	T	0.71579	-0.58	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.81486	-0.0911	10	0.28530	T	0.3	-18.2742	19.3968	0.94610	0.0:1.0:0.0:0.0	.	567	Q92611	EDEM1_HUMAN	Q	567	ENSP00000256497:P567Q	ENSP00000256497:P567Q	P	+	2	0	EDEM1	5230023	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.379000	0.79691	2.565000	0.86533	0.655000	0.94253	CCA		0.453	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
TTLL3	26140	broad.mit.edu	37	3	9854630	9854630	+	Missense_Mutation	SNP	A	A	C	rs187487302	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr3:9854630A>C	ENST00000547186.1	+	3	268	c.52A>C	c.(52-54)Aag>Cag	p.K18Q	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.K112Q|TTLL3_ENST00000427853.3_5'Flank|TTLL3_ENST00000397241.1_5'UTR|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Missense_Mutation_p.K161Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	18					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.K18Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ATTGCAGCAGAAGAAGATCTT	0.502													A|||	5	0.000998403	0.0008	0.0	5008	,	,		20084	0.004		0.0	False		,,,				2504	0.0				p.K161Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A481C	3						.	A	GLN/LYS,GLN/LYS	1,3833		0,1,1916	59.0	63.0	62.0		481,334	5.6	1.0	3		62	0,8260		0,0,4130	yes	missense,missense	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	53,53	0,1,6046	CC,CA,AA		0.0,0.0261,0.0083	probably-damaging,probably-damaging	161/916,112/626	9854630	1,12093	1917	4130	6047	9829630	SO:0001583	missense	26140	exon3				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.52A>C	3.37:g.9854630A>C	ENSP00000446659:p.Lys18Gln		9829630	NM_001025930	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	A|A	22.0|22.0	4.234543|4.234543	0.79800|0.79800	2.61E-4|2.61E-4	0.0|0.0	ENSG00000250151|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000453882|ENST00000397256;ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.13420	.|2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.462954	.|0.18858	.|U	.|0.129202	T|T	0.31575|0.31575	0.0801|0.0801	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.61722	.|0.893	T|T	0.01121|0.01121	-1.1445|-1.1445	5|10	.|0.31617	.|T	.|0.26	.|.	15.534|15.534	0.75986|0.75986	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|18	.|Q9Y4R7	.|TTLL3_HUMAN	A|Q	136|112;18;18;18;17;18;18;18;18;161;18;18;18	.|ENSP00000380427:K112Q;ENSP00000399930:K18Q;ENSP00000399782:K18Q;ENSP00000401686:K18Q;ENSP00000414965:K17Q;ENSP00000408128:K18Q;ENSP00000394481:K18Q;ENSP00000400462:K18Q;ENSP00000402197:K18Q;ENSP00000392549:K161Q;ENSP00000446659:K18Q;ENSP00000389904:K18Q;ENSP00000412915:K18Q	.|ENSP00000380427:K112Q	E|K	+|+	2|1	0|0	ARPC4-TTLL3|ARPC4-TTLL3;TTLL3	9829630|9829630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.632000|0.632000	0.37999|0.37999	5.001000|5.001000	0.63946|0.63946	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.502	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	
SCN11A	11280	broad.mit.edu	37	3	38936099	38936099	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr3:38936099C>T	ENST00000302328.3	-	15	2958	c.2760G>A	c.(2758-2760)gcG>gcA	p.A920A	SCN11A_ENST00000456224.3_Silent_p.A920A|SCN11A_ENST00000444237.2_Silent_p.A920A|SCN11A_ENST00000450244.1_Silent_p.A920A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	920					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A920A(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCCTCCTCCGCAAGTGGTG	0.493																																					p.A920A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2760A	3						.						168.0	165.0	166.0					3																	38936099		2203	4300	6503	38911103	SO:0001819	synonymous_variant	11280	exon15			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2760G>A	3.37:g.38936099C>T			38911103	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38945502	38945502	+	Missense_Mutation	SNP	C	C	T	rs201421435		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr3:38945502C>T	ENST00000302328.3	-	12	1894	c.1696G>A	c.(1696-1698)Gtt>Att	p.V566I	SCN11A_ENST00000456224.3_Missense_Mutation_p.V566I|SCN11A_ENST00000444237.2_Missense_Mutation_p.V566I|SCN11A_ENST00000450244.1_Missense_Mutation_p.V566I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	566					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V566I(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCTTCTTAACGCACAGCCAC	0.502																																					p.V566I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1696A	3						.						169.0	142.0	151.0					3																	38945502		2203	4300	6503	38920506	SO:0001583	missense	11280	exon12			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1696G>A	3.37:g.38945502C>T	ENSP00000307599:p.Val566Ile		38920506	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206332	0.01568	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.66	5.58	-3.27	0.05048	.	0.863211	0.10490	N	0.668523	T	0.80042	0.4551	N	0.01140	-0.99	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73895	-0.3838	10	0.07813	T	0.8	.	5.7901	0.18355	0.2656:0.4267:0.0:0.3077	.	566	Q9UI33	SCNBA_HUMAN	I	566	ENSP00000307599:V566I;ENSP00000400945:V566I;ENSP00000416757:V566I;ENSP00000408028:V566I	ENSP00000307599:V566I	V	-	1	0	SCN11A	38920506	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	-1.685000	0.01930	-0.898000	0.03906	-0.385000	0.06624	GTT		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
GPR87	53836	broad.mit.edu	37	3	151012123	151012123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr3:151012123G>A	ENST00000260843.4	-	3	1375	c.911C>T	c.(910-912)gCg>gTg	p.A304V	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	304					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A304V(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACATTACACGCAGACAAGAA	0.338																																					p.A304V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C911T	3						.						111.0	114.0	113.0					3																	151012123		2203	4300	6503	152494813	SO:0001583	missense	53836	exon3			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.911C>T	3.37:g.151012123G>A	ENSP00000260843:p.Ala304Val		152494813	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792455	0.90453	.	.	ENSG00000138271	ENST00000260843	T	0.31769	1.48	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.53019	-0.8497	10	0.31617	T	0.26	-11.3655	19.2508	0.93925	0.0:0.0:1.0:0.0	.	304	Q9BY21	GPR87_HUMAN	V	304	ENSP00000260843:A304V	ENSP00000260843:A304V	A	-	2	0	GPR87	152494813	1.000000	0.71417	0.950000	0.38849	0.948000	0.59901	9.416000	0.97383	2.719000	0.93026	0.655000	0.94253	GCG		0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
QRFPR	84109	broad.mit.edu	37	4	122301568	122301568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:122301568C>T	ENST00000394427.2	-	1	646	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	QRFPR_ENST00000334383.5_Missense_Mutation_p.V79I	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	79					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.V79I(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATGTTGGTGACGGTGCGCATG	0.582																																					p.V79I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	4						.						115.0	89.0	98.0					4																	122301568		2203	4300	6503	122521018	SO:0001583	missense	84109	exon1			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.235G>A	4.37:g.122301568C>T	ENSP00000377948:p.Val79Ile		122521018	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993200	0.93167	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.38722	1.12;1.12	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.053025	0.85682	D	0.000000	T	0.44644	0.1303	L	0.47016	1.485	0.58432	D	0.999999	P;P;D	0.53462	0.882;0.934;0.96	B;P;B	0.45310	0.257;0.476;0.345	T	0.46992	-0.9151	10	0.56958	D	0.05	.	18.2778	0.90088	0.0:1.0:0.0:0.0	.	79;79;79	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	I	79	ENSP00000377948:V79I;ENSP00000335610:V79I	ENSP00000335610:V79I	V	-	1	0	QRFPR	122521018	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.525000	0.81892	2.383000	0.81215	0.467000	0.42956	GTC		0.582	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
NAA15	80155	broad.mit.edu	37	4	140258071	140258071	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:140258071G>A	ENST00000296543.5	+	3	532	c.209G>A	c.(208-210)cGt>cAt	p.R70H	NAA15_ENST00000398947.1_Missense_Mutation_p.R70H|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	70					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.R70H(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAATTGGTTCGTAGAGGTTTG	0.353																																					p.R70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	4						.						136.0	127.0	130.0					4																	140258071		1897	4156	6053	140477521	SO:0001583	missense	80155	exon3			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.209G>A	4.37:g.140258071G>A	ENSP00000296543:p.Arg70His		140477521	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530583	0.85706	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.52057	0.68;0.68	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.74878	-0.3514	10	0.87932	D	0	-9.4103	18.8597	0.92267	0.0:0.0:1.0:0.0	.	70	Q9BXJ9	NAA15_HUMAN	H	70	ENSP00000296543:R70H;ENSP00000381920:R70H	ENSP00000296543:R70H	R	+	2	0	NAA15	140477521	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.476000	0.97823	2.442000	0.82660	0.563000	0.77884	CGT		0.353	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	
FBXW7	55294	broad.mit.edu	37	4	153245446	153245446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:153245446G>A	ENST00000281708.4	-	11	2974	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	FBXW7_ENST00000263981.5_Missense_Mutation_p.S502L|FBXW7_ENST00000296555.5_Missense_Mutation_p.S464L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S582L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S582L|FBXW7_ENST00000393956.3_Missense_Mutation_p.S406L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	582			S -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S582L(10)|p.S502L(2)|p.S343L(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTTGTTAACGACTGGTGCCC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.S502L			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,colon,Substitution - Missense,0 	.	15	Substitution - Missense(14)|Unknown(1)	large_intestine(14)|haematopoietic_and_lymphoid_tissue(1)	c.C1505T	4						.						150.0	126.0	134.0					4																	153245446		2203	4300	6503	153464896	SO:0001583	missense	55294	exon10			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1745C>T	4.37:g.153245446G>A	ENSP00000281708:p.Ser582Leu		153464896	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429316	0.62844	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.99;0.993;0.988;0.988	T	0.66480	-0.5913	10	0.39692	T	0.17	-9.1133	19.838	0.96666	0.0:0.0:1.0:0.0	.	406;582;464;502	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	582;464;502;406	ENSP00000281708:S582L;ENSP00000296555:S464L;ENSP00000263981:S502L;ENSP00000377528:S406L	ENSP00000263981:S502L	S	-	2	0	FBXW7	153464896	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.869000	0.99810	2.692000	0.91855	0.650000	0.86243	TCG		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	broad.mit.edu	37	4	153247244	153247244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:153247244C>T	ENST00000281708.4	-	10	2787	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	FBXW7_ENST00000263981.5_Missense_Mutation_p.D440N|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402N|FBXW7_ENST00000603841.1_Missense_Mutation_p.D520N|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520N|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.D440N			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,colon,Substitution - Missense,0 	.	10	Substitution - Missense(9)|Unknown(1)	large_intestine(9)|haematopoietic_and_lymphoid_tissue(1)	c.G1318A	4						.						199.0	191.0	194.0					4																	153247244		2203	4300	6503	153466694	SO:0001583	missense	55294	exon9			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1558G>A	4.37:g.153247244C>T	ENSP00000281708:p.Asp520Asn		153466694	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844676	0.91197	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043028	0.85682	D	0.000000	D	0.95928	0.8674	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97118	0.9809	10	0.87932	D	0	-22.8387	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	344;520;402;440	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	520;402;440;344	ENSP00000281708:D520N;ENSP00000296555:D402N;ENSP00000263981:D440N;ENSP00000377528:D344N	ENSP00000263981:D440N	D	-	1	0	FBXW7	153466694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	GAT		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
ASB5	140458	broad.mit.edu	37	4	177143499	177143499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:177143499C>T	ENST00000296525.3	-	3	462	c.349G>A	c.(349-351)Gca>Aca	p.A117T	ASB5_ENST00000512254.1_Missense_Mutation_p.A64T|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	117					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTGGCACATGCCACGTGATCT	0.428																																					p.A117T												.	.	0			c.G349A	4						.						107.0	104.0	105.0					4																	177143499		2203	4300	6503	177380493	SO:0001583	missense	140458	exon3			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.349G>A	4.37:g.177143499C>T	ENSP00000296525:p.Ala117Thr		177380493	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986237	0.74589	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.354675	0.31821	N	0.007010	T	0.40522	0.1120	N	0.20845	0.615	0.46279	D	0.998966	P;P	0.48016	0.549;0.904	B;P	0.48598	0.419;0.583	T	0.20042	-1.0287	10	0.42905	T	0.14	-14.233	12.1923	0.54278	0.0:0.9213:0.0:0.0787	.	117;64	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	T	117;64	ENSP00000296525:A117T;ENSP00000422877:A64T	ENSP00000296525:A117T	A	-	1	0	ASB5	177380493	0.997000	0.39634	0.975000	0.42487	0.796000	0.44982	5.490000	0.66881	2.708000	0.92522	0.585000	0.79938	GCA		0.428	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
TRIML1	339976	broad.mit.edu	37	4	189065283	189065283	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr4:189065283C>T	ENST00000332517.3	+	5	992	c.852C>T	c.(850-852)ttC>ttT	p.F284F	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	284	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F284F(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TAAGAAAATTCAGCAGTAAGT	0.517																																					p.F284F	Melanoma(31;213 1036 16579 23968 32372)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	4						.						71.0	73.0	72.0					4																	189065283		2203	4300	6503	189302277	SO:0001819	synonymous_variant	339976	exon5			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.852C>T	4.37:g.189065283C>T			189302277	NM_178556	Q96BE5	Silent	SNP	ENST00000332517.3	37	CCDS3851.1																																																																																				0.517	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
APC	324	broad.mit.edu	37	5	112175649	112175650	+	Frame_Shift_Ins	INS	-	-	TT	rs369121091		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	-	-	-	TT	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr5:112175649_112175650insTT	ENST00000457016.1	+	16	4738_4739	c.4358_4359insTT	c.(4357-4362)cctaaafs	p.K1454fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1454fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1454fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1454	Ser-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.P1453fs*20(5)|p.?(1)|p.P1453fs*19(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1453fs*4(1)|p.K1454fs*20(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)		CGAGAAGTACCTAAAAATAAAG	0.48		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.P1453fs	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,upper_aerodigestive_tract,sinonasal_and_nasal_cavity,Substitution - Missense,+1 	.	11	Deletion - Frameshift(9)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(9)|soft_tissue(1)|skin(1)	c.4358_4359insTT	5						.																																			112203549	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	Exception_encountered	5.37:g.112175649_112175650insTT	ENSP00000413133:p.Lys1454fs		112203548	NM_000038	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.480	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FBXL7	23194	broad.mit.edu	37	5	15937257	15937257	+	Missense_Mutation	SNP	C	C	T	rs576303242		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr5:15937257C>T	ENST00000504595.1	+	4	1919	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R433C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R468C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	480					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R480C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCACTGCAAGCGCTGCGTCAT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16476	0.0		0.001	False		,,,				2504	0.0				p.R480C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1438T	5						.						18.0	20.0	19.0					5																	15937257		2112	4242	6354	15990257	SO:0001583	missense	23194	exon4			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1438C>T	5.37:g.15937257C>T	ENSP00000423630:p.Arg480Cys		15990257	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797385	0.90538	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.55588	0.51;0.51;0.51	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.71919	-0.4447	10	0.62326	D	0.03	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	480	Q9UJT9	FBXL7_HUMAN	C	480;433;468	ENSP00000423630:R480C;ENSP00000425184:R433C;ENSP00000329632:R468C	ENSP00000329632:R468C	R	+	1	0	FBXL7	15990257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.885000	0.69736	2.521000	0.84997	0.650000	0.86243	CGC		0.532	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
CDH10	1008	broad.mit.edu	37	5	24509903	24509903	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr5:24509903A>T	ENST00000264463.4	-	7	1535	c.1028T>A	c.(1027-1029)cTt>cAt	p.L343H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L343H(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGAGTATAAAGTCTTCGGCT	0.368										HNSCC(23;0.051)																											p.L343H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1028A	5						.						60.0	62.0	61.0					5																	24509903		2203	4300	6503	24545660	SO:0001583	missense	1008	exon7			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1028T>A	5.37:g.24509903A>T	ENSP00000264463:p.Leu343His		24545660	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747361	0.49257	.	.	ENSG00000040731	ENST00000264463	T	0.01838	4.61	5.1	5.1	0.69264	Cadherin (5);Cadherin-like (1);	0.294436	0.31589	N	0.007387	T	0.02193	0.0068	N	0.26162	0.8	0.29900	N	0.824513	P	0.38078	0.617	B	0.37267	0.245	T	0.43829	-0.9367	10	0.13470	T	0.59	.	14.3467	0.66672	1.0:0.0:0.0:0.0	.	343	Q9Y6N8	CAD10_HUMAN	H	343	ENSP00000264463:L343H	ENSP00000264463:L343H	L	-	2	0	CDH10	24545660	0.520000	0.26250	1.000000	0.80357	0.977000	0.68977	3.215000	0.51169	2.052000	0.61016	0.459000	0.35465	CTT		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
C6	729	broad.mit.edu	37	5	41172398	41172398	+	Missense_Mutation	SNP	C	C	T	rs373830541		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr5:41172398C>T	ENST00000263413.3	-	9	1484	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R407H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	407	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R407H(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAATAAAACGCGTTTCTTTGT	0.408																																					p.R407H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1220A	5						.						260.0	214.0	229.0					5																	41172398		2203	4300	6503	41208155	SO:0001583	missense	729	exon9			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1220G>A	5.37:g.41172398C>T	ENSP00000263413:p.Arg407His		41208155	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243726	0.39697	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84442	-1.85;-1.85	4.89	4.01	0.46588	Membrane attack complex component/perforin (MACPF) domain (3);	4.273250	0.00633	N	0.000490	D	0.89681	0.6785	M	0.66939	2.045	0.23865	N	0.996623	D	0.55385	0.971	P	0.58210	0.835	T	0.70695	-0.4801	10	0.14656	T	0.56	-3.9749	8.6426	0.33985	0.152:0.7707:0.0:0.0773	.	407	P13671	CO6_HUMAN	H	407	ENSP00000338861:R407H;ENSP00000263413:R407H	ENSP00000263413:R407H	R	-	2	0	C6	41208155	0.383000	0.25156	0.081000	0.20488	0.610000	0.37248	2.185000	0.42584	1.167000	0.42706	0.655000	0.94253	CGC		0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
TCOF1	6949	broad.mit.edu	37	5	149771655	149771663	+	In_Frame_Del	DEL	GACAGTGAG	GACAGTGAG	-	rs200424706		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	GACAGTGAG	GACAGTGAG	GACAGTGAG	-	GACAGTGAG	GACAGTGAG	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr5:149771655_149771663delGACAGTGAG	ENST00000504761.2	+	21	3433_3441	c.3433_3441delGACAGTGAG	c.(3433-3441)gacagtgagdel	p.DSE1145del	TCOF1_ENST00000439160.2_In_Frame_Del_p.DSE1107del|TCOF1_ENST00000445265.2_In_Frame_Del_p.DSE1068del|TCOF1_ENST00000513346.1_In_Frame_Del_p.DSE1144del|TCOF1_ENST00000323668.7_In_Frame_Del_p.DSE1068del|TCOF1_ENST00000451292.1_In_Frame_Del_p.DSE1182del|TCOF1_ENST00000377797.3_In_Frame_Del_p.DSE1145del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1145					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.D1068_E1070delDSE(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCTCAGATGACAGTGAGGACAGCAGCG	0.603																																					p.1145_1147del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3433_3441del	5						.																																			149751856	SO:0001651	inframe_deletion	6949	exon21				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3433_3441delGACAGTGAG	5.37:g.149771655_149771663delGACAGTGAG	ENSP00000421655:p.Asp1145_Glu1147del		149751848	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	In_Frame_Del	DEL	ENST00000504761.2	37	CCDS54936.1																																																																																				0.603	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	
PKHD1	5314	broad.mit.edu	37	6	51512899	51512899	+	Silent	SNP	G	G	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr6:51512899G>T	ENST00000371117.3	-	63	11603	c.11328C>A	c.(11326-11328)tcC>tcA	p.S3776S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3776					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S3776S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGTCCCAGGGACTCTACTC	0.413																																					p.S3776S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11328A	6						.						101.0	103.0	102.0					6																	51512899		2203	4300	6503	51620858	SO:0001819	synonymous_variant	5314	exon63			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11328C>A	6.37:g.51512899G>T			51620858	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
KLHL31	401265	broad.mit.edu	37	6	53519321	53519321	+	Silent	SNP	G	G	A	rs115011385		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr6:53519321G>A	ENST00000407079.1	-	1	749	c.750C>T	c.(748-750)taC>taT	p.Y250Y	KLHL31_ENST00000370905.3_Silent_p.Y250Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	250	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Y250Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GATCTGCAGCGTATTTTACTC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21334	0.0		0.001	False		,,,				2504	0.0				p.Y250Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750T	6						.	G		2,4404	4.2+/-10.8	0,2,2201	118.0	115.0	116.0		750	-5.7	0.5	6	dbSNP_132	116	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KLHL31	NM_001003760.4		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		250/635	53519321	4,13002	2203	4300	6503	53627280	SO:0001819	synonymous_variant	401265	exon2				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.750C>T	6.37:g.53519321G>A			53627280	NM_001003760	A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	CCDS34478.1																																																																																				0.378	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760	
CNR1	1268	broad.mit.edu	37	6	88854286	88854286	+	Silent	SNP	C	C	T	rs577054667		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr6:88854286C>T	ENST00000537554.1	-	2	4270	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000549716.1_Silent_p.A175A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.A236A(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCAGGCAAAACGCCACCACGG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21363	0.0		0.0	False		,,,				2504	0.0				p.A236A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G708A	6						.						67.0	63.0	64.0					6																	88854286		2203	4300	6503	88911005	SO:0001819	synonymous_variant	1268	exon2			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.708G>A	6.37:g.88854286C>T			88911005	NM_001160259	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
SIM1	6492	broad.mit.edu	37	6	100897248	100897248	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr6:100897248G>A	ENST00000369208.3	-	6	1316	c.534C>T	c.(532-534)ggC>ggT	p.G178G	SIM1_ENST00000262901.4_Silent_p.G178G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	178					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G178G(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTTGTAGCCGCCACAGGTGA	0.617																																					p.G178G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534T	6						.						36.0	34.0	35.0					6																	100897248		2203	4300	6503	101003969	SO:0001819	synonymous_variant	6492	exon5			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.534C>T	6.37:g.100897248G>A			101003969	NM_005068	Q5TDP7	Silent	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																				0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
NME8	51314	broad.mit.edu	37	7	37936570	37936572	+	In_Frame_Del	DEL	CCC	CCC	-	rs199621229		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	CCC	CCC	CCC	-	CCC	CCC	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr7:37936570_37936572delCCC	ENST00000199447.4	+	17	2015_2017	c.1643_1645delCCC	c.(1642-1647)tcccct>tct	p.P549del	NME8_ENST00000440017.1_In_Frame_Del_p.P549del|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	549	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.P549delP(1)									AAATTACTTTCCCCTGACTCCAT	0.438																																					p.548_549del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1643_1645del	7						.																																			37903097	SO:0001651	inframe_deletion	51314	exon17			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1643_1645delCCC	7.37:g.37936570_37936572delCCC	ENSP00000199447:p.Pro549del		37903095	NM_016616	Q9NZH1	In_Frame_Del	DEL	ENST00000199447.4	37	CCDS5452.1																																																																																				0.438	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	byFrequency	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr7:71252855C>T	ENST00000329008.5	-	6	863	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	CALN1_ENST00000395275.2_Missense_Mutation_p.V231I|CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000405452.2_Missense_Mutation_p.V189I|CALN1_ENST00000412588.1_Missense_Mutation_p.V231I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		20837	0.002		0.0	False		,,,				2504	0.0				p.V231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	7						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	97.0	106.0		565,691	5.1	1.0	7	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_001017440.2,NM_031468.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/220,231/262	71252855	1,13005	2203	4300	6503	70890791	SO:0001583	missense	83698	exon7			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.565G>A	7.37:g.71252855C>T	ENSP00000332498:p.Val189Ile		70890791	NM_031468	J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	CCDS5541.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	32	5.173620	0.94807	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74632	-0.7;-0.86;-0.7;-0.7;-0.86;-0.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80182	0.4576	L	0.29908	0.895	0.52099	D	0.99994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.82731	-0.0312	10	0.72032	D	0.01	0.0876	17.5493	0.87872	0.0:1.0:0.0:0.0	.	189;189	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	189;231;189;189;231;189	ENSP00000332498:V189I;ENSP00000378690:V231I;ENSP00000378691:V189I;ENSP00000410704:V189I;ENSP00000391882:V231I;ENSP00000384354:V189I	ENSP00000332498:V189I	V	-	1	0	CALN1	70890791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GTC		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
TMEM74	157753	broad.mit.edu	37	8	109796954	109796954	+	Missense_Mutation	SNP	C	C	T	rs372486464		TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr8:109796954C>T	ENST00000297459.3	-	2	552	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	125					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R125Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TGGCGAGCTCCGGTTCCGCTG	0.473																																					p.R125Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G374A	8						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	82.0	81.0		374	-3.8	0.0	8		81	0,8600		0,0,4300	no	missense	TMEM74	NM_153015.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	125/306	109796954	1,13005	2203	4300	6503	109866130	SO:0001583	missense	157753	exon2			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.374G>A	8.37:g.109796954C>T	ENSP00000297459:p.Arg125Gln		109866130	NM_153015		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	0.993	-0.693283	0.03303	2.27E-4	0.0	ENSG00000164841	ENST00000297459	.	.	.	5.81	-3.81	0.04294	.	0.569350	0.18161	N	0.149795	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24905	-1.0147	9	0.15952	T	0.53	-0.0133	7.5214	0.27631	0.1103:0.3532:0.0:0.5365	.	125	Q96NL1	TMM74_HUMAN	Q	125	.	ENSP00000297459:R125Q	R	-	2	0	TMEM74	109866130	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-1.216000	0.02982	-0.935000	0.03728	-0.137000	0.14449	CGG		0.473	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
CHRNB3	1142	broad.mit.edu	37	8	42586825	42586825	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr8:42586825C>T	ENST00000289957.2	+	5	503	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.F125F(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ACGGCCGCTTCGAAGGCTCCC	0.507																																					p.F125F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C375T	8						.						49.0	48.0	48.0					8																	42586825		2203	4300	6503	42705982	SO:0001819	synonymous_variant	1142	exon5			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.375C>T	8.37:g.42586825C>T			42705982	NM_000749	Q15827	Silent	SNP	ENST00000289957.2	37	CCDS6134.1																																																																																				0.507	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
CLVS1	157807	broad.mit.edu	37	8	62370905	62370905	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr8:62370905C>A	ENST00000519846.1	+	6	1253	c.781C>A	c.(781-783)Cta>Ata	p.L261I	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.L261I			Q8IUQ0	CLVS1_HUMAN	clavesin 1	261	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.L261I(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTTCACCAGCTAATACACCC	0.413																																					p.L261I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C781A	8						.						129.0	121.0	124.0					8																	62370905		2203	4300	6503	62533459	SO:0001583	missense	157807	exon5			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.781C>A	8.37:g.62370905C>A	ENSP00000428402:p.Leu261Ile		62533459	NM_173519	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459168	0.43634	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.75821	-0.97;-0.97	5.43	3.64	0.41730	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.153862	0.44483	D	0.000455	T	0.62344	0.2420	L	0.31476	0.935	0.51233	D	0.999912	B	0.30973	0.302	B	0.33568	0.166	T	0.55315	-0.8160	10	0.23891	T	0.37	-14.6249	11.9003	0.52680	0.0:0.86:0.0:0.14	.	261	Q8IUQ0	CLVS1_HUMAN	I	261	ENSP00000428402:L261I;ENSP00000325506:L261I	ENSP00000325506:L261I	L	+	1	2	CLVS1	62533459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.464000	0.60134	0.857000	0.35407	0.650000	0.86243	CTA		0.413	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	
CSMD3	114788	broad.mit.edu	37	8	113960089	113960089	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr8:113960089T>C	ENST00000297405.5	-	9	1682	c.1438A>G	c.(1438-1440)Aaa>Gaa	p.K480E	CSMD3_ENST00000343508.3_Missense_Mutation_p.K440E|CSMD3_ENST00000455883.2_Missense_Mutation_p.K376E|CSMD3_ENST00000352409.3_Missense_Mutation_p.K480E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	480						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K480E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAGCTGTTTTAATACCTCCC	0.289										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.K480E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1438G	8						.						82.0	84.0	83.0					8																	113960089		2203	4299	6502	114029265	SO:0001583	missense	114788	exon9			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1438A>G	8.37:g.113960089T>C	ENSP00000297405:p.Lys480Glu		114029265	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222433	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.23754	2.19;2.19;1.89;2.2	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.26231	0.0640	L	0.38175	1.15	0.35028	D	0.758533	B;P;P	0.45474	0.295;0.859;0.841	B;B;P	0.49708	0.132;0.437;0.62	T	0.06162	-1.0842	10	0.02654	T	1	.	15.1689	0.72854	0.0:0.0:0.0:1.0	.	376;480;440	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	440;480;376;480	ENSP00000345799:K440E;ENSP00000297405:K480E;ENSP00000412263:K376E;ENSP00000343124:K480E	ENSP00000297405:K480E	K	-	1	0	CSMD3	114029265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.281000	0.78621	2.052000	0.61016	0.454000	0.30748	AAA		0.289	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SMC2	10592	broad.mit.edu	37	9	106891981	106891981	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:106891981G>T	ENST00000286398.7	+	21	3134	c.2846G>T	c.(2845-2847)gGc>gTc	p.G949V	SMC2_ENST00000374793.3_Missense_Mutation_p.G949V|SMC2_ENST00000303219.8_Missense_Mutation_p.G949V|SMC2_ENST00000374787.3_Missense_Mutation_p.G949V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	949					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.G949V(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CACCTCTTTGGCCAACCCAAT	0.368																																					p.G949V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2846T	9						.						130.0	141.0	137.0					9																	106891981		2203	4300	6503	105931802	SO:0001583	missense	10592	exon21			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2846G>T	9.37:g.106891981G>T	ENSP00000286398:p.Gly949Val		105931802	NM_006444	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704518	0.88924	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.79352	-1.18;-1.18;-1.26;-1.18	5.87	5.87	0.94306	RecF/RecN/SMC (1);	0.046560	0.85682	D	0.000000	D	0.90823	0.7118	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.91695	0.5369	10	0.59425	D	0.04	-6.9391	18.7972	0.91999	0.0:0.0:1.0:0.0	.	949	O95347	SMC2_HUMAN	V	949	ENSP00000286398:G949V;ENSP00000363925:G949V;ENSP00000306152:G949V;ENSP00000363919:G949V	ENSP00000286398:G949V	G	+	2	0	SMC2	105931802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.714000	0.98744	2.780000	0.95670	0.655000	0.94253	GGC		0.368	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
ABCA1	19	broad.mit.edu	37	9	107594078	107594078	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:107594078C>A	ENST00000374736.3	-	13	1934	c.1540G>T	c.(1540-1542)Gca>Tca	p.A514S	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	514					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.A514S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACTTCTGTTGCTATGGGTTCT	0.483																																					p.A514S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1540T	9						.						152.0	137.0	142.0					9																	107594078		2203	4300	6503	106633899	SO:0001583	missense	19	exon13			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1540G>T	9.37:g.107594078C>A	ENSP00000363868:p.Ala514Ser		106633899	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761212	0.31137	.	.	ENSG00000165029	ENST00000374736	D	0.97016	-4.21	5.59	1.52	0.23074	.	0.287807	0.37577	N	0.002026	D	0.88403	0.6427	N	0.05441	-0.05	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.81226	-0.1029	10	0.42905	T	0.14	.	7.6327	0.28249	0.0859:0.4929:0.3412:0.08	.	514	O95477	ABCA1_HUMAN	S	514	ENSP00000363868:A514S	ENSP00000363868:A514S	A	-	1	0	ABCA1	106633899	0.038000	0.19896	0.065000	0.19835	0.840000	0.47671	0.398000	0.20899	0.724000	0.32296	0.563000	0.77884	GCA		0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
PRPF4	9128	broad.mit.edu	37	9	116045694	116045694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:116045694C>T	ENST00000374198.4	+	6	691	c.589C>T	c.(589-591)Cga>Tga	p.R197*	PRPF4_ENST00000374199.4_Nonsense_Mutation_p.R196*	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	197					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.R197*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGAAGAGGCCCGACTCCATAA	0.522																																					p.R197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C589T	9						.						83.0	83.0	83.0					9																	116045694		2203	4300	6503	115085515	SO:0001587	stop_gained	9128	exon6			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.589C>T	9.37:g.116045694C>T	ENSP00000363313:p.Arg197*		115085515	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Nonsense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605970	0.98387	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	.	.	.	5.35	5.35	0.76521	.	0.059609	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.104	0.59237	0.16:0.84:0.0:0.0	.	.	.	.	X	196;197	.	ENSP00000363313:R197X	R	+	1	2	PRPF4	115085515	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	3.332000	0.52083	2.503000	0.84419	0.563000	0.77884	CGA		0.522	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
ASTN2	23245	broad.mit.edu	37	9	119770494	119770494	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:119770494C>T	ENST00000313400.4	-	7	1568	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	ASTN2_ENST00000373996.3_Missense_Mutation_p.D490N|ASTN2_ENST00000361209.2_Missense_Mutation_p.D439N|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	490					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.D439N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTAACCAGTCGGAGATGTCC	0.507																																					p.D439N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1315A	9						.						114.0	97.0	103.0					9																	119770494		2203	4300	6503	118810315	SO:0001583	missense	23245	exon6			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1468G>A	9.37:g.119770494C>T	ENSP00000314038:p.Asp490Asn		118810315	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	18.59	3.657633	0.67586	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13901	2.73;2.73;2.55;2.73	5.56	5.56	0.83823	.	0.191610	0.45126	D	0.000395	T	0.23289	0.0563	N	0.17082	0.46	0.46774	D	0.999193	B;B;D	0.89917	0.306;0.078;1.0	B;B;D	0.71870	0.019;0.008;0.975	T	0.07214	-1.0784	9	.	.	.	-28.3921	19.5337	0.95240	0.0:1.0:0.0:0.0	.	439;490;490	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	N	490;490;217;439	ENSP00000314038:D490N;ENSP00000363108:D490N;ENSP00000363098:D217N;ENSP00000354504:D439N	.	D	-	1	0	ASTN2	118810315	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	5.825000	0.69286	2.602000	0.87976	0.655000	0.94253	GAC		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
NPR2	4882	broad.mit.edu	37	9	35799668	35799668	+	Silent	SNP	C	C	T			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:35799668C>T	ENST00000342694.2	+	3	1182	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	309					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F309F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATCAGGAATTCCAGAATCGTC	0.507																																					p.F309F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927T	9						.						131.0	130.0	130.0					9																	35799668		2203	4300	6503	35789668	SO:0001819	synonymous_variant	4882	exon3			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.927C>T	9.37:g.35799668C>T			35789668	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																				0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
VPS13A	23230	broad.mit.edu	37	9	79842396	79842396	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:79842396A>C	ENST00000360280.3	+	16	1707	c.1447A>C	c.(1447-1449)Aaa>Caa	p.K483Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.K483Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.K483Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.K483Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	483					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K483Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTTTACTAAAAACAGTAAG	0.358																																					p.K483Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1447C	9						.						79.0	76.0	77.0					9																	79842396		2202	4299	6501	79032216	SO:0001583	missense	23230	exon16			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1447A>C	9.37:g.79842396A>C	ENSP00000353422:p.Lys483Gln		79032216	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371121	0.82573	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.52295	0.85;0.67;0.76;0.85	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.87578	0.931;0.998;0.992;0.992	T	0.73363	-0.4006	10	0.44086	T	0.13	.	15.2991	0.73933	1.0:0.0:0.0:0.0	.	483;483;483;483	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	483	ENSP00000365821:K483Q;ENSP00000365823:K483Q;ENSP00000353422:K483Q;ENSP00000349985:K483Q	ENSP00000349985:K483Q	K	+	1	0	VPS13A	79032216	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.441000	0.80485	2.070000	0.61991	0.377000	0.23210	AAA		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
GFI1B	8328	broad.mit.edu	37	9	135862799	135862799	+	Silent	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chr9:135862799G>A	ENST00000339463.3	+	7	1050	c.231G>A	c.(229-231)ccG>ccA	p.P77P	GFI1B_ENST00000534944.1_Silent_p.P77P|GFI1B_ENST00000372123.1_Silent_p.P77P|GFI1B_ENST00000372122.1_Silent_p.P77P|GFI1B_ENST00000372124.1_Silent_p.P77P|GFI1B_ENST00000450530.1_Silent_p.P77P			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	77					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.P77P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGATGGCCCCGGCACCAGGTA	0.622																																					p.P77P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	9						.						63.0	58.0	60.0					9																	135862799		2203	4300	6503	134852620	SO:0001819	synonymous_variant	8328	exon3			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.231G>A	9.37:g.135862799G>A			134852620	NM_001135031	O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	CCDS6957.1																																																																																				0.622	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188	
ATP2B3	492	broad.mit.edu	37	X	152825305	152825305	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chrX:152825305G>A	ENST00000349466.2	+	17	3070	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G901D|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G915D|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G915D|ATP2B3_ENST00000370186.1_Missense_Mutation_p.G901D|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G901D			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	915					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G915D(3)|p.G901D(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCGTACGGCCGCGACAAG	0.597																																					p.G915D												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2744A	X						.						85.0	68.0	74.0					X																	152825305		2203	4300	6503	152478499	SO:0001583	missense	492	exon16			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2744G>A	X.37:g.152825305G>A	ENSP00000343886:p.Gly915Asp		152478499	NM_021949	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747777	0.89663	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.87971	2.92	0.80722	D	1	P;D	0.60160	0.932;0.987	P;P	0.59703	0.758;0.862	D	0.95309	0.8410	10	0.87932	D	0	-36.3176	16.7389	0.85454	0.0:0.0:1.0:0.0	.	915;915	Q16720;Q16720-2	AT2B3_HUMAN;.	D	901;915;901;915;915;901	ENSP00000359205:G901D;ENSP00000343886:G915D;ENSP00000377425:G901D;ENSP00000352062:G915D;ENSP00000263519:G915D;ENSP00000359200:G901D	ENSP00000263519:G915D	G	+	2	0	ATP2B3	152478499	1.000000	0.71417	0.867000	0.34043	0.734000	0.41952	9.776000	0.99001	2.212000	0.71576	0.529000	0.55759	GGC		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
PCDH11Y	83259	broad.mit.edu	37	Y	4925168	4925168	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01Z-01A-11W-A096-10	TCGA-AA-A01Z-11A-11W-A096-10	g.chrY:4925168G>A	ENST00000333703.4	+	4	784	c.271G>A	c.(271-273)Gga>Aga	p.G91R	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.G102R|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.G102R	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	102	Cadherin 1. {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.G91R(2)|p.G102R(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTACAAGACCGGAGATGTGCC	0.453																																					p.G91R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G271A	Y						.																																			4985168	SO:0001583	missense	83259	exon4			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.271G>A	Y.37:g.4925168G>A	ENSP00000330552:p.Gly91Arg		4985168	NM_032971	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.453	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
