#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						uc002gbh.2																			0											c.(106-108)cTc>cCc		Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.							323.0	306.0	311.0					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro		Somatic				LOC100130950_uc002gbf.2_Non-coding_Transcript|LOC100130950_uc002gbg.2_Non-coding_Transcript|SCIMP_uc010clb.1_Missense_Mutation_p.L36P|SCIMP_uc002gbi.2_Missense_Mutation_p.L36P	p.L36P	NM_207103	NP_996986	WXS	Illumina GAIIx	Phase_I	Q6UWF3	CQ087_HUMAN			1	140	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	1	0	5	381				
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438																																						uc003qqn.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5143-5145)Cag>Aag		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							293.0	293.0	293.0					6																	157525128		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	p.Q1715K	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	5143	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5143C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	0	0	0	1	0	6	395				
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						uc001rcv.2																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184.0	168.0	173.0		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His		Somatic				PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	p.Y900H	NM_030667	NP_109592	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			16	3168	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	1	0	3	120				
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66.0	68.0	67.0					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro		Somatic					p.R1263P	NM_006514	NP_006505	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3788	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	1	0	8	86				
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						uc003ica.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.							293.0	247.0	263.0					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala		Somatic					p.T530A	NM_003619	NP_003610	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			7	1635	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	1	0	3	124				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		36	58	0	0	0	1	0	36	58				
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc001fec.1				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(487-489)Tat>Cat		Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.							198.0	167.0	178.0					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His		Somatic				TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	p.Y163H	NM_152263	NP_689476	WXS	Illumina GAIIx	Phase_I	P06753	TPM3_HUMAN			3	602	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.487T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	1	0	47	89				
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						uc001goi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.							98.0	104.0	102.0					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T			Somatic				XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	p.L29L	NM_004736	NP_004727	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			1	277	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	1	0	5	173				
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						uc001ild.4																			1	Substitution - Missense(1)	p.G810D(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.							148.0	160.0	156.0					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp		Somatic					p.G810D	NM_018706	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2528	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	1	0	5	278				
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						uc003zho.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.							43.0	47.0	46.0					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T			Somatic					p.F312F	NM_133497	NP_598004	WXS	Illumina GAIIx	Phase_I	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	0	1150	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	1	0	5	64				
BRICD5	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Silent_p.A105A			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.001					uc010bsh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(313-315)gcG>gcA		Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.		C		0,4386		0,0,2193	42.0	35.0	37.0		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870					integral to membrane		g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T			Somatic				C16orf79_uc002cpi.2_Silent_p.A105A	p.A105A	NM_182563	NP_872369	WXS	Illumina GAIIx	Phase_I	Q6PL45	CP079_HUMAN			2	550	-			105			BRICHOS.		C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	1	0	7	9				
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							68.0	70.0	70.0					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile		Somatic					p.T1115I	NM_018023	NP_060493	WXS	Illumina GAIIx	Phase_I	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	1	0	16	51				
ATMIN	23300	broad.mit.edu	37	16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068_81078069AC>TG	ENST00000299575.4	+	4	1989_1990	c.1965_1966AC>TG	c.(1963-1968)gaACtt>gaTGtt	p.655_656EL>DV	ATMIN_ENST00000566488.1_Missense_Mutation_p.499_500EL>DV|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.499_500EL>DV	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505																																						uc002ffz.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1963-1968)gaactt>gaTGtt		Homo sapiens ATM interactor (ATMIN), mRNA.																																				SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068_81078069AC>TG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	Exception_encountered	16.37:g.81078068_81078069delinsTG	ENSP00000299575:p.E655_L656delinsDV		Somatic				ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	p.655_656EL>DV	NM_015251	NP_056066	WXS	Illumina GAIIx	Phase_I	O43313	ATMIN_HUMAN			3	1983_1984	+			655					A8K4H8|Q68DC9	Missense_Mutation	DNP	ENST00000299575.4	37	c.1965_1966AC>TG	CCDS32494.1																																																																																				0.505	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	1	0	6	106				
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fhi.3																			1	Substitution - Nonsense(1)	p.S411*(2)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.							87.0	74.0	78.0					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		Somatic	OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226		p.S411*	NM_003791	NP_003782	WXS	Illumina GAIIx	Phase_I	Q14703	MBTP1_HUMAN			9	1734	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	1	0	3	64				
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G|CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1537-1539)Agc>Ggc		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							108.0	108.0	108.0					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly		Somatic				CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	p.S513G	NM_194300	NP_919276	WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			10	1549	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1537A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	1	0	3	162				
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						uc003zpg.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		Homo sapiens interferon, epsilon (IFNE), mRNA.							91.0	93.0	92.0					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr		Somatic				MIR31HG_uc003zpe.2_Intron	p.R205T	NM_176891	NP_795372	WXS	Illumina GAIIx	Phase_I	Q86WN2	IFNE_HUMAN			0	1233	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	1	0	4	195				
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						uc002gbh.2																			0											c.(106-108)cTc>cCc		Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.							323.0	306.0	311.0					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro		Somatic				LOC100130950_uc002gbf.2_Non-coding_Transcript|LOC100130950_uc002gbg.2_Non-coding_Transcript|SCIMP_uc010clb.1_Missense_Mutation_p.L36P|SCIMP_uc002gbi.2_Missense_Mutation_p.L36P	p.L36P	NM_207103	NP_996986	WXS	Illumina GAIIx	Phase_I	Q6UWF3	CQ087_HUMAN			1	140	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	1	0	5	381				
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438																																						uc003qqn.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5143-5145)Cag>Aag		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							293.0	293.0	293.0					6																	157525128		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	p.Q1715K	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	5143	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5143C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	0	0	0	1	0	6	395				
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						uc001rcv.2																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184.0	168.0	173.0		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His		Somatic				PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	p.Y900H	NM_030667	NP_109592	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			16	3168	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	1	0	3	120				
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66.0	68.0	67.0					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro		Somatic					p.R1263P	NM_006514	NP_006505	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3788	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	1	0	8	86				
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						uc003ica.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.							293.0	247.0	263.0					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala		Somatic					p.T530A	NM_003619	NP_003610	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			7	1635	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	1	0	3	124				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		36	58	0	0	0	1	0	36	58				
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc001fec.1				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(487-489)Tat>Cat		Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.							198.0	167.0	178.0					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His		Somatic				TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	p.Y163H	NM_152263	NP_689476	WXS	Illumina GAIIx	Phase_I	P06753	TPM3_HUMAN			3	602	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.487T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	1	0	47	89				
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						uc001goi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.							98.0	104.0	102.0					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T			Somatic				XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	p.L29L	NM_004736	NP_004727	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			1	277	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	1	0	5	173				
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						uc001ild.4																			1	Substitution - Missense(1)	p.G810D(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.							148.0	160.0	156.0					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp		Somatic					p.G810D	NM_018706	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2528	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	1	0	5	278				
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						uc003zho.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.							43.0	47.0	46.0					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T			Somatic					p.F312F	NM_133497	NP_598004	WXS	Illumina GAIIx	Phase_I	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	0	1150	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	1	0	5	64				
BRICD5	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Silent_p.A105A			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.001					uc010bsh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(313-315)gcG>gcA		Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.		C		0,4386		0,0,2193	42.0	35.0	37.0		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870					integral to membrane		g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T			Somatic				C16orf79_uc002cpi.2_Silent_p.A105A	p.A105A	NM_182563	NP_872369	WXS	Illumina GAIIx	Phase_I	Q6PL45	CP079_HUMAN			2	550	-			105			BRICHOS.		C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	1	0	7	9				
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							68.0	70.0	70.0					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile		Somatic					p.T1115I	NM_018023	NP_060493	WXS	Illumina GAIIx	Phase_I	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	1	0	16	51				
ATMIN	23300	broad.mit.edu	37	16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:81078068_81078069AC>TG	ENST00000299575.4	+	4	1989_1990	c.1965_1966AC>TG	c.(1963-1968)gaACtt>gaTGtt	p.655_656EL>DV	ATMIN_ENST00000566488.1_Missense_Mutation_p.499_500EL>DV|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.499_500EL>DV	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505																																						uc002ffz.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1963-1968)gaactt>gaTGtt		Homo sapiens ATM interactor (ATMIN), mRNA.																																				SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068_81078069AC>TG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	Exception_encountered	16.37:g.81078068_81078069delinsTG	ENSP00000299575:p.E655_L656delinsDV		Somatic				ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	p.655_656EL>DV	NM_015251	NP_056066	WXS	Illumina GAIIx	Phase_I	O43313	ATMIN_HUMAN			3	1983_1984	+			655					A8K4H8|Q68DC9	Missense_Mutation	DNP	ENST00000299575.4	37	c.1965_1966AC>TG	CCDS32494.1																																																																																				0.505	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	1	0	6	106				
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fhi.3																			1	Substitution - Nonsense(1)	p.S411*(2)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.							87.0	74.0	78.0					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		Somatic	OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226		p.S411*	NM_003791	NP_003782	WXS	Illumina GAIIx	Phase_I	Q14703	MBTP1_HUMAN			9	1734	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	1	0	3	64				
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G|CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1537-1539)Agc>Ggc		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							108.0	108.0	108.0					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly		Somatic				CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	p.S513G	NM_194300	NP_919276	WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			10	1549	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1537A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	1	0	3	162				
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						uc003zpg.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		Homo sapiens interferon, epsilon (IFNE), mRNA.							91.0	93.0	92.0					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr		Somatic				MIR31HG_uc003zpe.2_Intron	p.R205T	NM_176891	NP_795372	WXS	Illumina GAIIx	Phase_I	Q86WN2	IFNE_HUMAN			0	1233	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	1	0	4	195				
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC	rs567208173	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	ENST00000458013.2	+	1	177_178	c.57_58insGGC	c.(58-60)ggc>GGCggc	p.20_20G>GG	SNX27_ENST00000368843.3_In_Frame_Ins_p.20_20G>GG|RP11-404E16.1_ENST00000504583.2_RNA			Q96L92	SNX27_HUMAN	sorting nexin family member 27	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738														3	0.000599042	0.0008	0.0014	5008	,	,		10116	0.0		0.001	False		,,,				2504	0.0				Colon(46;291 966 40145 41237 41888)	uc001eyn.1																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(55-60)insGGC		Homo sapiens sorting nexin family member 27 (SNX27), mRNA.																																				SO:0001652	inframe_insertion	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151584734_151584735insGGC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.67_69dupGGC	1.37:g.151584741_151584743dupGGC	ENSP00000400333:p.Gly25dup		Somatic					p.25_26insG	NM_030918	NP_112180	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		0	73_74	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		25					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	In_Frame_Ins	INS	ENST00000458013.2	37	c.57_58insGGC																																																																																					0.738	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		7	2						7	2	---	---	---	---
