#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
PITPNA	5306	broad.mit.edu	37	17	1456343	1456343	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:1456343T>C	ENST00000313486.7	-	3	407	c.152A>G	c.(151-153)gAc>gGc	p.D51G	PITPNA_ENST00000539476.1_Missense_Mutation_p.D51G	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	51					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTCTCACCGTCCTTCTCGTA	0.552																																						uc021tng.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(151-153)gAc>gGc		Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.							182.0	183.0	183.0					17																	1456343		2099	4226	6325	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456343T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.152A>G	17.37:g.1456343T>C	ENSP00000316809:p.Asp51Gly		Somatic				PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	p.D51G	NM_006224	NP_006215	WXS	Illumina GAIIx	Phase_I	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	2	408	-			51						Missense_Mutation	SNP	ENST00000313486.7	37	c.152A>G	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049206	0.55110	.	.	ENSG00000174238	ENST00000539476;ENST00000313486	T;T	0.44083	0.93;0.93	6.16	6.16	0.99307	START-like domain (1);	0.100169	0.64402	D	0.000002	T	0.44435	0.1293	L	0.39147	1.195	0.58432	D	0.999996	P	0.36959	0.575	P	0.45377	0.478	T	0.20009	-1.0288	10	0.22706	T	0.39	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	51	Q00169	PIPNA_HUMAN	G	51	ENSP00000441869:D51G;ENSP00000316809:D51G	ENSP00000316809:D51G	D	-	2	0	PITPNA	1403093	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.038000	0.88943	2.367000	0.80283	0.528000	0.53228	GAC		0.552	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			56	89	0	0	0	1	0	56	89				
RHBDD3	25807	broad.mit.edu	37	22	29656429	29656429	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:29656429G>A	ENST00000216085.7	-	6	1293	c.869C>T	c.(868-870)gCg>gTg	p.A290V	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	290					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						ATCCAAGGCCGCCCACATCGG	0.672																																						uc003aeq.1																			0				lung(1)|ovary(1)	2						c.(868-870)gCg>gTg		Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.							18.0	19.0	19.0					22																	29656429		2203	4300	6503	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656429G>A	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.869C>T	22.37:g.29656429G>A	ENSP00000216085:p.Ala290Val		Somatic					p.A290V	NM_012265	NP_036397	WXS	Illumina GAIIx	Phase_I	Q9Y3P4	RHBD3_HUMAN			5	1241	-			290					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.869C>T	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869444	0.17322	.	.	ENSG00000100263	ENST00000216085	T	0.23552	1.9	5.08	-1.12	0.09808	.	0.680702	0.13579	N	0.377479	T	0.19685	0.0473	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23368	-1.0190	10	0.46703	T	0.11	-6.7981	3.2562	0.06832	0.3304:0.0:0.3776:0.292	.	290	Q9Y3P4	RHBD3_HUMAN	V	290	ENSP00000216085:A290V	ENSP00000216085:A290V	A	-	2	0	RHBDD3	27986429	0.004000	0.15560	0.022000	0.16811	0.036000	0.12997	0.271000	0.18626	0.024000	0.15214	-0.833000	0.03075	GCG		0.672	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		2	2	0	0	0	1	0	2	2				
CAMSAP1	157922	broad.mit.edu	37	9	138713116	138713116	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr9:138713116G>A	ENST00000389532.4	-	11	3455	c.3391C>T	c.(3391-3393)Ccg>Tcg	p.P1131S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P853S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1142S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1131					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTCAAGTGCGGGAGCGTCTCT	0.647																																						uc004cgr.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3391-3393)Ccg>Tcg		Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.							48.0	61.0	57.0					9																	138713116		2202	4296	6498	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713116G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3391C>T	9.37:g.138713116G>A	ENSP00000374183:p.Pro1131Ser		Somatic				CAMSAP1_uc004cgq.4_Missense_Mutation_p.P1021S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P853S	p.P1131S	NM_015447	NP_056262	WXS	Illumina GAIIx	Phase_I	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	3391	-			1131					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3391C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068944	0.55539	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.32753	1.46;1.44;1.45	5.29	3.39	0.38822	.	0.104870	0.64402	D	0.000002	T	0.54679	0.1873	M	0.81942	2.565	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.57510	-0.7799	10	0.87932	D	0	-3.4478	10.6908	0.45870	0.0722:0.1331:0.7947:0.0	.	1131;1142	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	1131;853;1142	ENSP00000374183:P1131S;ENSP00000312463:P853S;ENSP00000386420:P1142S	ENSP00000312463:P853S	P	-	1	0	CAMSAP1	137852937	1.000000	0.71417	0.109000	0.21407	0.864000	0.49448	4.095000	0.57728	0.677000	0.31305	0.561000	0.74099	CCG		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	46	0	0	0	1	0	3	46				
BGN	633	broad.mit.edu	37	X	152770767	152770767	+	Missense_Mutation	SNP	G	G	A	rs150272427	byFrequency	TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:152770767G>A	ENST00000331595.4	+	3	496	c.310G>A	c.(310-312)Gag>Aag	p.E104K	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	104					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACATCTCCGAGCTCCGCAA	0.617													G|||	7	0.0018543	0.0053	0.0	3775	,	,		12578	0.0		0.0	False		,,,				2504	0.0					uc004fhr.2																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(310-312)Gag>Aag		Homo sapiens biglycan (BGN), mRNA.		G	LYS/GLU	25,3810		0,18,7,1614,564	85.0	71.0	76.0		310	5.1	0.9	X	dbSNP_134	76	1,6727		0,1,0,2427,1872	yes	missense	BGN	NM_001711.4	56	0,19,7,4041,2436	AA,AG,A,GG,G		0.0149,0.6519,0.2461	probably-damaging	104/369	152770767	26,10537	2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770767G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.310G>A	X.37:g.152770767G>A	ENSP00000327336:p.Glu104Lys		Somatic					p.E104K	NM_001711	NP_001702	WXS	Illumina GAIIx	Phase_I	P21810	PGS1_HUMAN			2	546	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.310G>A	CCDS14721.1	8	0.004822182037371911	5	0.0102880658436214	0	0.0	0	0.0	0	0.0	G	19.41	3.821752	0.71028	0.006519	1.49E-4	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.83506	0.4;-1.73;0.4	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86040	0.1519	10	0.66056	D	0.02	-31.3051	16.494	0.84223	0.0:0.0:1.0:0.0	.	104	P21810	PGS1_HUMAN	K	104;104;43;43	ENSP00000327336:E104K;ENSP00000402525:E104K;ENSP00000359223:E43K	ENSP00000327336:E104K	E	+	1	0	BGN	152423961	1.000000	0.71417	0.915000	0.36163	0.098000	0.18820	7.569000	0.82380	2.237000	0.73441	0.529000	0.55759	GAG		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		26	44	0	0	0	1	0	26	44				
TRPV2	51393	broad.mit.edu	37	17	16338272	16338272	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:16338272C>A	ENST00000338560.7	+	14	2582	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	TRPV2_ENST00000577397.1_Missense_Mutation_p.A298E	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	728					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGTCAGGGGCAGGTGTCCCT	0.627																																						uc002gpy.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2182-2184)gCa>gAa		Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.							96.0	79.0	84.0					17																	16338272		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16338272C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2183C>A	17.37:g.16338272C>A	ENSP00000342222:p.Ala728Glu		Somatic				TRPV2_uc002gpz.3_Missense_Mutation_p.A298E	p.A728E	NM_016113	NP_057197	WXS	Illumina GAIIx	Phase_I	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2582	+			728					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2183C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789307	0.31685	.	.	ENSG00000187688	ENST00000338560	D	0.87650	-2.28	4.98	1.52	0.23074	.	1.666260	0.04476	U	0.376888	T	0.71660	0.3366	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.60737	-0.7204	10	0.02654	T	1	-18.0312	7.8939	0.29695	0.3161:0.5299:0.1541:0.0	.	728	Q9Y5S1	TRPV2_HUMAN	E	728	ENSP00000342222:A728E	ENSP00000342222:A728E	A	+	2	0	TRPV2	16278997	0.000000	0.05858	0.003000	0.11579	0.551000	0.35334	0.098000	0.15189	0.555000	0.29079	0.655000	0.94253	GCA		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		12	27	0	0	0	1	0	12	27				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	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		11	24	0	0	0	1	0	11	24				
CES4A	283848	broad.mit.edu	37	16	67036990	67036990	+	Silent	SNP	C	C	G	rs574058890		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr16:67036990C>G	ENST00000326686.5	+	6	708	c.708C>G	c.(706-708)gcC>gcG	p.A236A	CES4A_ENST00000535696.1_Silent_p.A142A|CES4A_ENST00000540947.2_Silent_p.A236A|CES4A_ENST00000540579.1_Silent_p.A138A|CES4A_ENST00000541479.1_Silent_p.A259A|CES4A_ENST00000338718.4_Silent_p.A259A|CES4A_ENST00000398354.1_Silent_p.A236A			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	236						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CACCCCTAGCCTCGGGTCTCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.0	False		,,,				2504	0.001					uc002eqv.3																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(775-777)gcC>gcG		Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.							110.0	108.0	109.0					16																	67036990		1970	4154	6124	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67036990C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.708C>G	16.37:g.67036990C>G			Somatic				CES4A_uc010vix.2_Silent_p.A236A|CES4A_uc002eqw.3_Silent_p.A236A|CES4A_uc010viy.2_Silent_p.A142A|CES4A_uc002eqx.3_Silent_p.A42A|CES4A_uc002eqy.3_Silent_p.A138A	p.A259A	NM_001190201	NP_001177130	WXS	Illumina GAIIx	Phase_I	Q5XG92	EST4A_HUMAN			5	892	+			236					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.777C>G																																																																																					0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		27	51	0	0	0	1	0	27	51				
LRP1	4035	broad.mit.edu	37	12	57563020	57563020	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr12:57563020C>G	ENST00000243077.3	+	20	3559	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1031	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCCCGAGCACTGGACCTGCG	0.612																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3091-3093)caC>caG		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						75.0	63.0	67.0					12																	57563020		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57563020C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3093C>G	12.37:g.57563020C>G	ENSP00000243077:p.His1031Gln		Somatic				LRP1_uc009zpi.1_Non-coding_Transcript	p.H1031Q	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	19	3559	+			1031			LDL-receptor class A 7.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3093C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363456	0.41902	.	.	ENSG00000123384	ENST00000243077	D	0.95137	-3.62	4.8	3.91	0.45181	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.186012	0.35677	N	0.003049	D	0.88224	0.6379	N	0.25332	0.735	0.80722	D	1	B	0.24576	0.106	B	0.28709	0.093	T	0.81435	-0.0934	10	0.13853	T	0.58	.	9.1931	0.37211	0.0:0.8241:0.0:0.1759	.	1031	Q07954	LRP1_HUMAN	Q	1031	ENSP00000243077:H1031Q	ENSP00000243077:H1031Q	H	+	3	2	LRP1	55849287	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.051000	0.41307	1.259000	0.44117	0.561000	0.74099	CAC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	46	0	0	0	1	0	3	46				
MAPK8IP2	23542	broad.mit.edu	37	22	51044090	51044090	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:51044090C>T	ENST00000399908.2	+	5	1860	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R370C|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R382C|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R647C|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R353C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R268C	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	648	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCAACATGCGCACGGGGGA	0.652																																						uc003bmx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1939-1941)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.							37.0	47.0	43.0					22																	51044090		2137	4243	6380	SO:0001583	missense	23542				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding	g.chr22:51044090C>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1144C>T	22.37:g.51044090C>T	ENSP00000382792:p.Arg382Cys		Somatic				MAPK8IP2_uc003bmy.3_Missense_Mutation_p.R620C|MAPK8IP2_uc011asc.2_Missense_Mutation_p.R2C	p.R647C	NM_012324	NP_036456	WXS	Illumina GAIIx	Phase_I	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	2056	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	648			SH3.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1939C>T		.	.	.	.	.	.	.	.	.	.	C	13.85	2.361401	0.41801	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.32753	2.31;2.31;2.31;2.31;2.31;1.44	5.15	1.64	0.23874	Src homology-3 domain (4);	0.055887	0.64402	D	0.000003	T	0.52208	0.1720	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.58301	-0.7660	9	0.87932	D	0	-11.7161	11.9461	0.52928	0.572:0.428:0.0:0.0	.	620;648	E7EQG6;Q13387	.;JIP2_HUMAN	C	382;647;370;268;382;353	ENSP00000382796:R382C;ENSP00000330572:R647C;ENSP00000404914:R370C;ENSP00000340015:R268C;ENSP00000382792:R382C;ENSP00000008876:R353C	ENSP00000008876:R353C	R	+	1	0	MAPK8IP2	49390956	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	0.963000	0.29293	0.671000	0.31185	-0.175000	0.13238	CGC		0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		4	21	0	0	0	1	0	4	21				
Unknown	0	broad.mit.edu	37	17	15332891	15332891	+	IGR	SNP	G	G	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:15332891G>A								RP11-849N15.4 (11696 upstream) : CDRT4 (6440 downstream)																							ggtcatggcggtagtgatggg	0.493																																						uc002goo.3																			0													Homo sapiens cDNA clone IMAGE:3626633, partial cds.																																				SO:0001628	intergenic_variant	0							g.chr17:15332891G>A																													17.37:g.15332891G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0		-									RNA	SNP		37	c.428C>T																																																																																				0	0.493									3	15	0	0	0	1	0	3	15				
SAGE1	55511	broad.mit.edu	37	X	134995047	134995047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:134995047delA	ENST00000370709.3	+	19	2706	c.2706delA	c.(2704-2706)agafs	p.R902fs	SAGE1_ENST00000535938.1_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000537770.1_Frame_Shift_Del_p.R526fs			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	902						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCACATGAGAAAAAGATAAT	0.368																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2704-2706)agafs		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							38.0	33.0	34.0					X																	134995047		2203	4300	6503	SO:0001589	frameshift_variant	55511							g.chrX:134995047delA	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2706delA	X.37:g.134995047delA	ENSP00000359743:p.Arg902fs		Somatic				SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Frame_Shift_Del_p.R526fs	p.R902fs	NM_018666	NP_061136	WXS	Illumina GAIIx	Phase_I	Q9NXZ1	SAGE1_HUMAN			19	2873	+	Acute lymphoblastic leukemia(192;0.000127)		902					Q5JNW0	Frame_Shift_Del	DEL	ENST00000370709.3	37	c.2706delA	CCDS14652.1																																																																																				0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		2	4						2	4	---	---	---	---
