#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CABIN1	23523	broad.mit.edu	37	22	24445595	24445595	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr22:24445595G>A	ENST00000398319.2	+	7	954	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CABIN1_ENST00000263119.5_Missense_Mutation_p.R190Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.R190Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	190					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R190L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGATTGCCGGTACAGCAAA	0.502																																						uc002zzi.1																			1	Substitution - Missense(1)	p.R190L(2)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(568-570)cGg>cAg		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							110.0	108.0	109.0					22																	24445595		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24445595G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.569G>A	22.37:g.24445595G>A	ENSP00000381364:p.Arg190Gln					CABIN1_uc021wnc.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R190Q|CABIN1_uc010guk.1_Missense_Mutation_p.R145Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R145Q	p.R190Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			6	696	+			190					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.569G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791200	0.50102	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.60548	0.53;0.18;1.2;0.53;0.18	5.26	4.24	0.50183	Tetratricopeptide-like helical (1);	0.338397	0.35151	N	0.003408	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B;B;B;B	0.18968	0.001;0.032;0.014;0.017	B;B;B;B	0.09377	0.001;0.003;0.004;0.002	T	0.16335	-1.0406	10	0.12103	T	0.63	.	8.3701	0.32410	0.0833:0.0:0.7498:0.1669	.	145;190;190;190	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	Q	145;190;190;145;190;190	ENSP00000394209:R145Q;ENSP00000263119:R190Q;ENSP00000384694:R190Q;ENSP00000412389:R145Q;ENSP00000381364:R190Q	ENSP00000263119:R190Q	R	+	2	0	CABIN1	22775595	0.667000	0.27484	0.984000	0.44739	0.977000	0.68977	1.753000	0.38359	2.638000	0.89438	0.502000	0.49764	CGG		0.502	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		4	168	0	0	0	1	0	4	168				
ARIH2OS	646450	broad.mit.edu	37	3	48955844	48955844	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr3:48955844C>A	ENST00000408959.2	-	1	974	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	247						integral component of membrane (GO:0016021)											GCGCGGCGAACGAGGCCTCGG	0.592																																						uc010hkk.1																			0				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						c.(739-741)Gtt>Ttt		Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.							78.0	76.0	76.0					3																	48955844		1568	3582	5150	SO:0001583	missense	646450					integral to membrane		g.chr3:48955844C>A	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.739G>T	3.37:g.48955844C>A	ENSP00000386193:p.Val247Phe					ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	p.V247F	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN			0	975	-			247						Missense_Mutation	SNP	ENST00000408959.2	37	c.739G>T	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422245	0.11928	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.76	-5.53	0.02552	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.20184	0.028	T	0.18618	-1.0331	8	0.87932	D	0	.	0.5333	0.00632	0.223:0.1533:0.2938:0.33	.	247	Q8N7S6	CC071_HUMAN	F	247	.	ENSP00000386193:V247F	V	-	1	0	C3orf71	48930848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.239000	0.01198	-2.584000	0.00460	-1.086000	0.02197	GTT		0.592	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		5	119	0	0	0	1	0	5	119				
STK31	56164	broad.mit.edu	37	7	23792452	23792452	+	Splice_Site	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:23792452G>A	ENST00000355870.3	+	9	1252		c.e9+1		STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGAGGTAGGTAAAAG	0.303																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e9+1		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							56.0	56.0	56.0					7																	23792452		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792452G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1133+1G>A	7.37:g.23792452G>A						STK31_uc003swt.4_Splice_Site_p.R355_splice|STK31_uc011jze.2_Splice_Site_p.R378_splice|STK31_uc010kuq.3_Splice_Site_p.R355_splice	p.R378_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			9	1200	+			378					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	ENST00000355870.3	37	c.1133_splice	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681029	0.29872	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.002	0.64439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23758977	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	5.032000	0.64140	2.451000	0.82905	0.591000	0.81541	.		0.303	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Intron	3	46	0	0	0	1	0	3	46				
MAST1	22983	broad.mit.edu	37	19	12962967	12962967	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:12962967G>A	ENST00000251472.4	+	9	954	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MAST1_ENST00000591495.1_Silent_p.A301A	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTGGAGGCGGCCGAAGGAC	0.652																																						uc002mvm.3																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(913-915)gcG>gcA		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							57.0	64.0	62.0					19																	12962967		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962967G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.915G>A	19.37:g.12962967G>A						MAST1_uc021upp.1_Silent_p.A129A	p.A305A	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			8	1043	+			305						Silent	SNP	ENST00000251472.4	37	c.915G>A	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		7	170	0	0	0	1	0	7	170				
ST8SIA2	8128	broad.mit.edu	37	15	93007535	93007535	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:93007535T>C	ENST00000268164.3	+	6	1285	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	ST8SIA2_ENST00000539113.1_Silent_p.L329L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	350					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCATGCCCTTGGAGTTTAA	0.577																																						uc002bra.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1048-1050)Ttg>Ctg		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.							95.0	88.0	90.0					15																	93007535		2198	4298	6496	SO:0001819	synonymous_variant	8128				N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007535T>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1048T>C	15.37:g.93007535T>C						ST8SIA2_uc002brb.3_Silent_p.L329L	p.L350L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		5	1203	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		350					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1048T>C	CCDS10372.1																																																																																				0.577	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		3	172	0	0	0	1	0	3	172				
MED1	5469	broad.mit.edu	37	17	37563979	37563979	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:37563979T>A	ENST00000300651.6	-	17	4718	c.4495A>T	c.(4495-4497)Aag>Tag	p.K1499*	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTTGTGCTTCTTATGTTTC	0.438										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.4																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4495-4497)Aag>Tag		Homo sapiens mediator complex subunit 1 (MED1), mRNA.							115.0	103.0	107.0					17																	37563979		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563979T>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4495A>T	17.37:g.37563979T>A	ENSP00000300651:p.Lys1499*	HNSCC(31;0.082)				MED1_uc010wee.2_Nonsense_Mutation_p.K1327*|MED1_uc002hru.2_Intron	p.K1499*	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	4707	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1499			Lys-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000300651.6	37	c.4495A>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	41	8.936590	0.99008	.	.	ENSG00000125686	ENST00000300651	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2847	14.9521	0.71083	0.0:0.0:0.0:1.0	.	.	.	.	X	1499	.	ENSP00000300651:K1499X	K	-	1	0	MED1	34817505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.174000	0.68829	0.459000	0.35465	AAG		0.438	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		4	35	0	0	0	1	0	4	35				
CLPX	10845	broad.mit.edu	37	15	65459053	65459053	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:65459053C>T	ENST00000300107.3	-	4	617	c.429G>A	c.(427-429)aaG>aaA	p.K143K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	143					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATGCTTTTCTTTGAGTCTG	0.393																																						uc002aom.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(427-429)aaG>aaA		Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.							170.0	165.0	166.0					15																	65459053		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65459053C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.429G>A	15.37:g.65459053C>T						CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.K143K	p.K143K	NM_006660	NP_006651	O76031	CLPX_HUMAN			3	501	-			143					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.429G>A	CCDS10202.1																																																																																				0.393	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		3	110	0	0	0	1	0	3	110				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	1	0	3	100				
COPB1	1315	broad.mit.edu	37	11	14520418	14520418	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:14520418T>C	ENST00000249923.3	-	2	357	c.57A>G	c.(55-57)gaA>gaG	p.E19E	COPB1_ENST00000439561.2_Silent_p.E19E|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	19					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGATGGTGGTTCTGAATCCA	0.313																																						uc001mli.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(55-57)gaA>gaG		Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 1, mRNA.							87.0	86.0	87.0					11																	14520418		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity	g.chr11:14520418T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.57A>G	11.37:g.14520418T>C						COPB1_uc001mlg.2_Silent_p.E19E|COPB1_uc001mlh.2_Silent_p.E19E|PSMA1_uc010rcp.1_Non-coding_Transcript	p.E19E	NM_016451	NP_057535	P53618	COPB_HUMAN			1	364	-			19					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.57A>G	CCDS7815.1																																																																																				0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		28	52	0	0	0	1	0	28	52				
FAM13A	10144	broad.mit.edu	37	4	89912157	89912157	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:89912157T>C	ENST00000264344.5	-	4	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000515600.1_Missense_Mutation_p.N191S|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000509094.1_Missense_Mutation_p.N191S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTGGCGAGATTGTGAACATT	0.423																																						uc003hse.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(571-573)aAt>aGt		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.							153.0	134.0	140.0					4																	89912157		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912157T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.572A>G	4.37:g.89912157T>C	ENSP00000264344:p.Asn191Ser					FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Missense_Mutation_p.N5S	p.N191S	NM_014883	NP_055698	O94988	FA13A_HUMAN			3	780	-			191			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.572A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005008	0.35415	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	T;T;T	0.30182	1.54;1.54;1.54	4.51	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.057988	0.64402	D	0.000003	T	0.52565	0.1742	M	0.80508	2.5	0.53688	D	0.999978	P;D	0.63046	0.756;0.992	P;P	0.59056	0.587;0.851	T	0.57900	-0.7731	9	.	.	.	.	14.8763	0.70496	0.0:0.0:0.0:1.0	.	191;191	Q6P521;O94988	.;FA13A_HUMAN	S	191	ENSP00000264344:N191S;ENSP00000426517:N191S;ENSP00000422345:N191S	.	N	-	2	0	FAM13A	90131180	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.503000	0.45407	2.252000	0.74401	0.533000	0.62120	AAT		0.423	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			5	141	0	0	0	1	0	5	141				
SNRNP70	6625	broad.mit.edu	37	19	49589800	49589800	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:49589800G>A	ENST00000598441.1	+	2	353	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_ENST00000221448.5_Silent_p.P43P			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	43					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532																																						uc002pmk.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(127-129)ccG>ccA		Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.							219.0	212.0	215.0					19																	49589800		2203	4300	6503	SO:0001819	synonymous_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr19:49589800G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.129G>A	19.37:g.49589800G>A						SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript	p.P43P	NM_003089	NP_003080	P08621	RU17_HUMAN			1	568	+			43					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Silent	SNP	ENST00000598441.1	37	c.129G>A	CCDS12756.1																																																																																				0.532	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		6	429	0	0	0	1	0	6	429				
ABR	29	broad.mit.edu	37	17	995059	995059	+	Missense_Mutation	SNP	G	G	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:995059G>T	ENST00000302538.5	-	4	523	c.377C>A	c.(376-378)aCc>aAc	p.T126N	ABR_ENST00000574437.1_Missense_Mutation_p.T80N|ABR_ENST00000291107.2_Missense_Mutation_p.T89N|ABR_ENST00000544583.2_Missense_Mutation_p.T80N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	126	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCTGGGAGGTGGTGGCGGT	0.572																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(376-378)aCc>aAc		Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.							138.0	131.0	134.0					17																	995059		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr17:995059G>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.377C>A	17.37:g.995059G>T	ENSP00000303909:p.Thr126Asn					ABR_uc002fse.3_Missense_Mutation_p.T80N|ABR_uc002fsg.3_Missense_Mutation_p.T89N|ABR_uc002fsh.1_Missense_Mutation_p.T10N|ABR_uc010cjq.1_Missense_Mutation_p.T138N	p.T126N	NM_021962	NP_001153218	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	3	487	-			126			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.377C>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395796	0.96009	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.21932	2.01;2.02;1.98	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.045312	0.85682	D	0.000000	T	0.49287	0.1548	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.995;0.999;0.994;0.99	T	0.41592	-0.9500	10	0.87932	D	0	.	19.1586	0.93522	0.0:0.0:1.0:0.0	.	80;10;89;126	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	N	126;80;89;10	ENSP00000303909:T126N;ENSP00000442048:T80N;ENSP00000291107:T89N	ENSP00000291107:T89N	T	-	2	0	ABR	941809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.912000	0.87465	2.873000	0.98535	0.563000	0.77884	ACC		0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			19	203	0	0	0	1	0	19	203				
MAGEA6	4105	broad.mit.edu	37	X	151869749	151869749	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:151869749T>A	ENST00000329342.5	+	3	664	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	147	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACTTCTTTCCTGTGAT	0.527																																						uc004ffq.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(439-441)Ttt>Att		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.							158.0	141.0	147.0					X																	151869749		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869749T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.439T>A	X.37:g.151869749T>A	ENSP00000329199:p.Phe147Ile					MAGEA6_uc004ffr.1_Missense_Mutation_p.F147I|MAGEA6_uc022chf.1_Missense_Mutation_p.F147I	p.F147I	NM_005363	NP_787064	P43360	MAGA6_HUMAN			2	633	+	Acute lymphoblastic leukemia(192;6.56e-05)		147			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.439T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.987490	0.35036	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.06933	3.24;3.24;3.24	0.605	0.605	0.17553	.	.	.	.	.	T	0.33760	0.0874	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05370	-1.0889	8	0.87932	D	0	.	.	.	.	.	147	P43360	MAGA6_HUMAN	I	147	ENSP00000329199:F147I;ENSP00000403303:F147I;ENSP00000401806:F147I	ENSP00000329199:F147I	F	+	1	0	MAGEA6	151620405	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.306000	0.19279	0.476000	0.27440	0.151000	0.16131	TTT		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	197	0	0	0	1	0	4	197				
L1CAM	3897	broad.mit.edu	37	X	153129444	153129444	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:153129444G>A	ENST00000370060.1	-	26	3540	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_ENST00000370057.3_Silent_p.F1117F|L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000538883.1_Silent_p.F1119F|L1CAM_ENST00000543994.1_Silent_p.F1119F|L1CAM_ENST00000370055.1_Silent_p.F1112F|L1CAM_ENST00000361699.4_Silent_p.F1117F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1117				GF -> WLC (in Ref. 13; no nucleotide entry). {ECO:0000305}.	axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTGGCGAAGCCAGCAG	0.632																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3349-3351)ttC>ttT		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							62.0	52.0	56.0					X																	153129444		2203	4299	6502	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129444G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3351C>T	X.37:g.153129444G>A						L1CAM_uc004fjc.3_Silent_p.F1117F|L1CAM_uc010nuo.3_Silent_p.F1112F	p.F1117F	NM_000425	NP_000416	P32004	L1CAM_HUMAN			24	3459	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1117	GF -> WLC (in Ref. 11).				A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3351C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	51	0	0	0	1	0	3	51				
PDHA2	5161	broad.mit.edu	37	4	96761700	96761700	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:96761700C>T	ENST00000295266.4	+	1	462	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	133					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GATCCATTCTCGCAGAGCTGA	0.517																																						uc003htr.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(397-399)ctC>ctT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						99.0	90.0	93.0					4																	96761700		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761700C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.399C>T	4.37:g.96761700C>T							p.L133L	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	462	+		Hepatocellular(203;0.114)	133					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.399C>T	CCDS3644.1																																																																																				0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	91	0	0	0	1	0	10	91				
CHRM5	1133	broad.mit.edu	37	15	34355399	34355399	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:34355399C>A	ENST00000383263.5	+	3	1151	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L161I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	161					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTCCTTCATCCTCTGGGCCCC	0.547																																						uc001zhk.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(481-483)Ctc>Atc		Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						101.0	102.0	102.0					15																	34355399		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355399C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.481C>A	15.37:g.34355399C>A	ENSP00000372750:p.Leu161Ile					CHRM5_uc001zhl.1_Missense_Mutation_p.L161I|CHRM5_uc021sir.1_Missense_Mutation_p.L161I	p.L161I	NM_012125	NP_036257	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	2	1151	+		all_lung(180;1.76e-08)	161					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.481C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999279	0.54147	.	.	ENSG00000184984	ENST00000383263	T	0.72051	-0.62	5.54	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.071597	0.53938	D	0.000046	T	0.71213	0.3313	N	0.20328	0.56	0.49130	D	0.999759	D	0.56035	0.974	D	0.74348	0.983	T	0.71945	-0.4439	10	0.59425	D	0.04	-19.4063	10.4296	0.44400	0.0:0.8026:0.0:0.1974	.	161	P08912	ACM5_HUMAN	I	161	ENSP00000372750:L161I	ENSP00000372750:L161I	L	+	1	0	CHRM5	32142691	0.384000	0.25164	1.000000	0.80357	0.998000	0.95712	0.343000	0.19944	2.880000	0.98712	0.650000	0.86243	CTC		0.547	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			4	117	0	0	0	1	0	4	117				
SLC8A3	6547	broad.mit.edu	37	14	70634706	70634706	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr14:70634706G>A	ENST00000381269.2	-	2	1187	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC8A3_ENST00000357887.3_Missense_Mutation_p.A145V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A145V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	145					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATCTCAGGAGCAGAGGAACC	0.488																																						uc001xly.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(433-435)gCt>gTt		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.							100.0	92.0	95.0					14																	70634706		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634706G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.434C>T	14.37:g.70634706G>A	ENSP00000370669:p.Ala145Val					SLC8A3_uc001xlw.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlx.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlz.3_Missense_Mutation_p.A145V|SLC8A3_uc010ara.3_Non-coding_Transcript	p.A145V	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	1	1188	-			145					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.434C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896913	0.72639	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.64830	0.991;0.993;0.994;0.994	D;D;P;P	0.69307	0.937;0.963;0.895;0.895	D	0.89170	0.3536	10	0.87932	D	0	.	19.3613	0.94440	0.0:0.0:1.0:0.0	.	145;145;145;145	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	V	145	ENSP00000349392:A145V;ENSP00000370669:A145V;ENSP00000350560:A145V;ENSP00000436688:A145V;ENSP00000433531:A145V	ENSP00000349392:A145V	A	-	2	0	SLC8A3	69704459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.860000	0.99555	2.573000	0.86826	0.650000	0.86243	GCT		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			4	74	0	0	0	1	0	4	74				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	55	0	0	0	1	0	35	55				
COL15A1	1306	broad.mit.edu	37	9	101829274	101829274	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr9:101829274A>G	ENST00000375001.3	+	40	4185	c.3762A>G	c.(3760-3762)ttA>ttG	p.L1254L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1254	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGCATTCTTATCTTCCCATT	0.463																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3760-3762)ttA>ttG		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							159.0	136.0	144.0					9																	101829274		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101829274A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3762A>G	9.37:g.101829274A>G							p.L1254L	NM_001855	NP_001846	P39059	COFA1_HUMAN			39	3968	+		Acute lymphoblastic leukemia(62;0.0562)	1254			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.3762A>G	CCDS35081.1																																																																																				0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	138	0	0	0	1	0	4	138				
MYH8	4626	broad.mit.edu	37	17	10318635	10318635	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:10318635C>T	ENST00000403437.2	-	8	809	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	239	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTCCTCACAGTTTTGGCA	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(715-717)Gtg>Atg		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							136.0	139.0	138.0					17																	10318635		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318635C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.715G>A	17.37:g.10318635C>T	ENSP00000384330:p.Val239Met					AK097500_uc002gml.1_Intron	p.V239M	NM_002472	NP_002463	P13535	MYH8_HUMAN			7	810	-			239			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.715G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569566	0.65765	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88509	-2.39	4.14	4.14	0.48551	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002030	D	0.94666	0.8280	M	0.90252	3.1	0.47511	D	0.99944	P	0.41978	0.767	P	0.56163	0.793	D	0.95916	0.8927	10	0.87932	D	0	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	239	P13535	MYH8_HUMAN	M	239	ENSP00000384330:V239M	ENSP00000252173:V239M	V	-	1	0	MYH8	10259360	0.905000	0.30787	0.950000	0.38849	0.916000	0.54674	1.882000	0.39648	2.308000	0.77769	0.591000	0.81541	GTG		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		60	85	0	0	0	1	0	60	85				
SPATA18	132671	broad.mit.edu	37	4	52945025	52945025	+	Missense_Mutation	SNP	A	A	T	rs184420694		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:52945025A>T	ENST00000295213.4	+	8	1519	c.1145A>T	c.(1144-1146)cAt>cTt	p.H382L	SPATA18_ENST00000419395.2_Missense_Mutation_p.H350L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	382					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCATTTGTCATCTTGATCTA	0.383													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19872	0.0		0.0	False		,,,				2504	0.0					uc003gzl.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1144-1146)cAt>cTt		Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.							260.0	240.0	247.0					4																	52945025		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945025A>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1145A>T	4.37:g.52945025A>T	ENSP00000295213:p.His382Leu					SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H350L|SPATA18_uc003gzk.1_Missense_Mutation_p.H382L	p.H382L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1423	+			382					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1145A>T	CCDS3489.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	14.09	2.431082	0.43122	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34667	1.35;1.35	4.99	4.99	0.66335	.	0.051964	0.85682	D	0.000000	T	0.53061	0.1773	L	0.50333	1.59	0.39815	D	0.972768	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.83275	0.93;0.93;0.996	T	0.58053	-0.7704	10	0.87932	D	0	-25.3481	12.7086	0.57076	1.0:0.0:0.0:0.0	.	350;382;382	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	382;350	ENSP00000295213:H382L;ENSP00000415309:H350L	ENSP00000295213:H382L	H	+	2	0	SPATA18	52639782	1.000000	0.71417	0.797000	0.32132	0.011000	0.07611	7.645000	0.83430	2.097000	0.63578	0.533000	0.62120	CAT		0.383	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		7	204	0	0	0	1	0	7	204				
CD3E	916	broad.mit.edu	37	11	118183648	118183648	+	Intron	DEL	A	A	-			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:118183648delA	ENST00000361763.4	+	6	643				CD3E_ENST00000528600.1_Intron	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)						apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGGCATTCTCAGTGATTTTCC	0.522																																						uc010rya.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(418-420)cagfs		Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	Muromonab(DB00075)																																			SO:0001627	intron_variant	916				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity	g.chr11:118183648delA	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.352+67A>-	11.37:g.118183648delA						CD3E_uc001psq.4_Intron	p.Q140fs	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	5	675	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	0					A8K997	Frame_Shift_Del	DEL	ENST00000361763.4	37	c.419delA	CCDS31685.1																																																																																				0.522	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		20	27						20	27	---	---	---	---
