#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC3A1	6519	broad.mit.edu	37	2	44527120	44527120	+	Missense_Mutation	SNP	G	G	A	rs372528227		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr2:44527120G>A	ENST00000260649.6	+	5	978	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23Q|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409294.1_5'Flank	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAAATTTTACGGTTCTGGCTC	0.363																																						uc002ruc.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(901-903)cGg>cAg		Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	L-Cystine(DB00138)						177.0	178.0	178.0					2																	44527120		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding	g.chr2:44527120G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.902G>A	2.37:g.44527120G>A	ENSP00000260649:p.Arg301Gln					SLC3A1_uc002rty.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rua.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rub.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rud.4_Missense_Mutation_p.R23Q	p.R301Q	NM_000341	NP_000332	Q07837	SLC31_HUMAN			4	980	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	301					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.902G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353101	0.11182	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.35	0.29	0.15728	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.498699	0.23476	N	0.047771	D	0.94706	0.8292	L	0.47016	1.485	0.24888	N	0.992186	B;B;B;B;B	0.24092	0.006;0.06;0.097;0.026;0.046	B;B;B;B;B	0.20184	0.011;0.019;0.028;0.017;0.008	D	0.87585	0.2487	10	0.27082	T	0.32	-4.21	6.1902	0.20520	0.6489:0.1317:0.2194:0.0	.	301;301;301;301;301	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	Q	301;301;237;301;301;301;301;23;79	ENSP00000260649:R301Q;ENSP00000387308:R301Q;ENSP00000387337:R301Q;ENSP00000386954:R301Q;ENSP00000386620:R301Q;ENSP00000386709:R23Q;ENSP00000391642:R79Q	ENSP00000260649:R301Q	R	+	2	0	SLC3A1	44380624	0.049000	0.20398	0.847000	0.33407	0.139000	0.21198	0.599000	0.24089	0.030000	0.15379	-1.133000	0.01973	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		24	104	0	0	0	1	0	24	104				
FETUB	26998	broad.mit.edu	37	3	186370224	186370224	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr3:186370224A>G	ENST00000265029.3	+	7	1054	c.953A>G	c.(952-954)aAg>aGg	p.K318R	FETUB_ENST00000450521.1_Missense_Mutation_p.K318R|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.K253R|FETUB_ENST00000382136.3_Missense_Mutation_p.K281R|FETUB_ENST00000539949.1_Missense_Mutation_p.K170R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	318					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCAGGAAAAGGGCCCTCAG	0.527																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(952-954)aAg>aGg		Homo sapiens fetuin B (FETUB), mRNA.							86.0	99.0	95.0					3																	186370224		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370224A>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.953A>G	3.37:g.186370224A>G	ENSP00000265029:p.Lys318Arg					FETUB_uc011brz.2_Missense_Mutation_p.K170R|FETUB_uc003fqn.3_Missense_Mutation_p.K318R|FETUB_uc010hyr.3_Missense_Mutation_p.K281R|FETUB_uc010hys.3_Missense_Mutation_p.K170R|FETUB_uc003fqp.4_Missense_Mutation_p.K253R	p.K318R	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	1214	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		318					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.953A>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860137	0.32884	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.19	-5.16	0.02857	.	1.549160	0.03507	N	0.219006	T	0.36744	0.0978	L	0.47716	1.5	0.09310	N	1	P;P;P	0.46064	0.704;0.872;0.514	B;B;B	0.39503	0.152;0.301;0.165	T	0.45789	-0.9237	10	0.35671	T	0.21	0.3744	7.3446	0.26656	0.269:0.5564:0.1746:0.0	.	281;253;318	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	318;170;318;253;281	ENSP00000404288:K318R;ENSP00000443704:K170R;ENSP00000265029:K318R;ENSP00000371569:K253R;ENSP00000371571:K281R	ENSP00000265029:K318R	K	+	2	0	FETUB	187852918	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.087000	0.01360	-0.936000	0.03723	0.533000	0.62120	AAG		0.527	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		3	194	0	0	0	1	0	3	194				
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						uc001gpy.4																			1	Substitution - coding silent(1)	p.P641P(2)|p.P641L(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1921-1923)ccT>ccC		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	127.0	125.0					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293	NP_002284	P11047	LAMC1_HUMAN			10	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	101	0	0	0	1	0	3	101				
CEACAM5	1048	broad.mit.edu	37	19	42224846	42224846	+	Silent	SNP	G	G	A			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:42224846G>A	ENST00000221992.6	+	8	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	CEACAM5_ENST00000398599.4_Silent_p.G591G|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.G592G	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	592	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCCAGATGGGCCGGACACCC	0.557																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1774-1776)ggG>ggA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.							127.0	134.0	131.0					19																	42224846		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224846G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1776G>A	19.37:g.42224846G>A						CEACAM5_uc002orj.1_Silent_p.G591G	p.G592G	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1897	+			592			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1776G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	g	2.345	-0.350255	0.05173	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.17	-1.35	0.09114	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	2.7715	0.05336	0.0:0.3989:0.2535:0.3477	.	.	.	.	T	588	.	.	A	+	1	0	CEACAM5	46916686	0.923000	0.31300	0.002000	0.10522	0.076000	0.17211	0.112000	0.15479	-0.267000	0.09325	-0.370000	0.07254	GCC		0.557	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		98	147	0	0	0	1	0	98	147				
PRB2	653247	broad.mit.edu	37	12	11546180	11546180	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr12:11546180G>C	ENST00000389362.4	-	3	867	c.832C>G	c.(832-834)Cca>Gca	p.P278A	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	278	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGTGGGGGACCTTGA	0.617																																						uc010shk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(832-834)Cca>Gca		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.							78.0	103.0	95.0					12																	11546180		2058	4159	6217	SO:0001583	missense	653247							g.chr12:11546180G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.832C>G	12.37:g.11546180G>C	ENSP00000374013:p.Pro278Ala						p.P278A	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	867	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.832C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.886	0.532935	0.13188	.	.	ENSG00000121335	ENST00000389362	T	0.04862	3.54	1.42	1.42	0.22433	.	0.379473	0.08080	U	1.000000	T	0.06325	0.0163	M	0.70595	2.14	0.09310	N	1	P	0.39424	0.673	B	0.32583	0.148	T	0.30995	-0.9959	10	0.02654	T	1	.	6.7415	0.23439	0.0:0.0:1.0:0.0	.	278	P02812	PRB2_HUMAN	A	278	ENSP00000374013:P278A	ENSP00000374013:P278A	P	-	1	0	PRB2	11437447	0.000000	0.05858	0.003000	0.11579	0.334000	0.28698	-0.838000	0.04372	0.696000	0.31696	0.175000	0.17021	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		84	201	0	0	0	1	0	84	201				
SLC39A14	23516	broad.mit.edu	37	8	22275185	22275185	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:22275185A>T	ENST00000381237.1	+	8	1288	c.1169A>T	c.(1168-1170)aAc>aTc	p.N390I	SLC39A14_ENST00000359741.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000289952.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000240095.6_Missense_Mutation_p.N390I	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	390					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ATCCTGCTCAACGCTGGGATG	0.547																																						uc003xbq.4																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1168-1170)aAc>aTc		Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.							177.0	138.0	151.0					8																	22275185		2203	4300	6503	SO:0001583	missense	23516					Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22275185A>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1169A>T	8.37:g.22275185A>T	ENSP00000370635:p.Asn390Ile					SLC39A14_uc011kzg.2_Missense_Mutation_p.N390I|SLC39A14_uc003xbp.4_Missense_Mutation_p.N390I|SLC39A14_uc011kzh.2_Missense_Mutation_p.N390I	p.N390I	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	7	1344	+			390					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.1169A>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303742	0.81136	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.17	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.82823	2.61	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.996	T	0.72686	-0.4218	10	0.62326	D	0.03	-28.6944	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	390;390;390	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	I	390	ENSP00000352779:N390I;ENSP00000240095:N390I;ENSP00000370635:N390I;ENSP00000289952:N390I	ENSP00000240095:N390I	N	+	2	0	SLC39A14	22331130	1.000000	0.71417	0.969000	0.41365	0.723000	0.41478	7.352000	0.79404	1.146000	0.42352	0.533000	0.62120	AAC		0.547	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		61	84	0	0	0	1	0	61	84				
UBA6	55236	broad.mit.edu	37	4	68500218	68500218	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr4:68500218C>G	ENST00000322244.5	-	21	1920	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	621					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATGGTATTTCCTCTTCTGGG	0.328																																						uc003hdg.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1861-1863)Gaa>Caa		Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.							57.0	64.0	62.0					4																	68500218		2202	4297	6499	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500218C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1861G>C	4.37:g.68500218C>G	ENSP00000313454:p.Glu621Gln					UBA6_uc003hdh.1_Missense_Mutation_p.E147Q	p.E621Q	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			20	1913	-			621					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1861G>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.164482|3.164482	0.57476|0.57476	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.41758|.	0.99|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	P|.	0.41978|.	0.767|.	P|.	0.46299|.	0.511|.	T|T	0.51965|0.51965	-0.8638|-0.8638	10|5	0.30078|.	T|.	0.28|.	-15.5157|-15.5157	20.0155|20.0155	0.97477|0.97477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621|.	A0AVT1|.	UBA6_HUMAN|.	Q|S	621|154	ENSP00000313454:E621Q|.	ENSP00000313454:E621Q|.	E|R	-|-	1|3	0|2	UBA6|UBA6	68182813|68182813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.742000|2.742000	0.94016|0.94016	0.591000|0.591000	0.81541|0.81541	GAA|AGG		0.328	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	47	0	0	0	1	0	7	47				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	44	0	0	0	1	0	30	44				
GPR124	25960	broad.mit.edu	37	8	37698636	37698636	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:37698636C>T	ENST00000412232.2	+	19	2793	c.2780C>T	c.(2779-2781)gCc>gTc	p.A927V	GPR124_ENST00000315215.7_Missense_Mutation_p.A710V	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	927					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCCTTGGCGCCTTCTACATC	0.627																																						uc003xkj.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2779-2781)gCc>gTc		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							107.0	116.0	113.0					8																	37698636		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698636C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2780C>T	8.37:g.37698636C>T	ENSP00000406367:p.Ala927Val					GPR124_uc010lvy.3_Missense_Mutation_p.A710V	p.A927V	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		18	3166	+			927					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2780C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	33	5.207401	0.95033	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.41758	0.99;0.99	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.062185	0.64402	D	0.000004	T	0.71434	0.3339	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74674	0.984;0.966	T	0.78252	-0.2276	10	0.48119	T	0.1	-27.2058	17.575	0.87946	0.0:1.0:0.0:0.0	.	710;927	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	920;710;927	ENSP00000323508:A710V;ENSP00000406367:A927V	ENSP00000323508:A710V	A	+	2	0	GPR124	37817794	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.757000	0.85209	2.138000	0.66242	0.655000	0.94253	GCC		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	186	0	0	0	1	0	5	186				
URI1	8725	broad.mit.edu	37	19	30477203	30477203	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:30477203T>C	ENST00000542441.2	+	4	543	c.246T>C	c.(244-246)ccT>ccC	p.P82P	URI1_ENST00000360605.4_Silent_p.P64P|URI1_ENST00000312051.6_Silent_p.P42P|URI1_ENST00000392271.1_Silent_p.P6P			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	82					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.P82P(1)									CATTTGGCCCTTTTGCCTTCA	0.363																																						uc002nsr.3																			1	Substitution - coding silent(1)	p.P82P(1)	kidney(1)								c.(244-246)ccT>ccC		Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.							126.0	120.0	122.0					19																	30477203		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30477203T>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.246T>C	19.37:g.30477203T>C						URI1_uc002nsq.3_Silent_p.P64P|URI1_uc002nss.3_Silent_p.P42P|URI1_uc002nst.3_Silent_p.P6P	p.P82P	NM_003796	NP_003787	O94763	RMP_HUMAN			3	555	+			82					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.246T>C	CCDS12420.1																																																																																				0.363	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		3	96	0	0	0	1	0	3	96				
MAP7D2	256714	broad.mit.edu	37	X	20029036	20029036	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chrX:20029036G>A	ENST00000379651.3	-	15	2102	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	MAP7D2_ENST00000379643.5_Missense_Mutation_p.P736L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P580L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P650L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P643L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	695					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAATGTCGGGGGACCAGTGAA	0.463																																						uc010nfo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(2206-2208)cCc>cTc		Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.							100.0	93.0	95.0					X																	20029036		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20029036G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2084C>T	X.37:g.20029036G>A	ENSP00000368972:p.Pro695Leu					MAP7D2_uc004czq.2_Missense_Mutation_p.P580L|MAP7D2_uc011mji.2_Missense_Mutation_p.P643L|MAP7D2_uc004czr.2_Missense_Mutation_p.P695L|MAP7D2_uc011mjj.2_Missense_Mutation_p.P650L	p.P736L	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN			15	2324	-			695					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.2207C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286118	0.59867	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.39	5.39	0.77823	.	0.078744	0.53938	D	0.000041	D	0.90597	0.7052	L	0.60455	1.87	0.46609	D	0.999124	D;D;D;D;D	0.65815	0.988;0.993;0.993;0.995;0.993	P;P;P;P;P	0.61940	0.791;0.896;0.896;0.791;0.896	D	0.90794	0.4689	10	0.54805	T	0.06	-10.6577	12.8422	0.57809	0.0:0.0:0.6799:0.3201	.	650;643;736;695;580	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	695;736;580;650;378;643	ENSP00000368972:P695L;ENSP00000368964:P736L;ENSP00000440691:P580L;ENSP00000388239:P650L;ENSP00000413301:P643L	ENSP00000368964:P736L	P	-	2	0	MAP7D2	19938957	1.000000	0.71417	0.952000	0.39060	0.876000	0.50452	3.819000	0.55686	2.268000	0.75426	0.525000	0.51046	CCC		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		53	84	0	0	0	1	0	53	84				
ANKS1A	23294	broad.mit.edu	37	6	34985340	34985340	+	Missense_Mutation	SNP	G	G	A	rs199969282		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr6:34985340G>A	ENST00000360359.3	+	11	1652	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	505					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCTCCACGGCTCCTCCCCG	0.701																																						uc003ojx.4																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1513-1515)gGc>gAc		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.							33.0	38.0	36.0					6																	34985340		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985340G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1514G>A	6.37:g.34985340G>A	ENSP00000353518:p.Gly505Asp					ANKS1A_uc011dst.2_Missense_Mutation_p.G45D|ANKS1A_uc010jvp.2_Intron	p.G505D	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			10	1656	+			505					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1514G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243051	0.79912	.	.	ENSG00000064999	ENST00000360359	T	0.58797	0.31	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000117	T	0.69061	0.3069	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	10	0.72032	D	0.01	-25.8785	16.9636	0.86279	0.0:0.0:1.0:0.0	.	505	Q92625	ANS1A_HUMAN	D	505	ENSP00000353518:G505D	ENSP00000353518:G505D	G	+	2	0	ANKS1A	35093318	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.005000	0.93587	2.510000	0.84645	0.655000	0.94253	GGC		0.701	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		18	38	0	0	0	1	0	18	38				
METTL17	64745	broad.mit.edu	37	14	21465001	21465001	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr14:21465001T>C	ENST00000339374.6	+	14	1556	c.1323T>C	c.(1321-1323)acT>acC	p.T441T	METTL17_ENST00000382985.4_Missense_Mutation_p.S466P|METTL17_ENST00000556670.2_Silent_p.T432T|SLC39A2_ENST00000554422.1_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000298681.4_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	441					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGTGCTTACTCCGTCTGCGT	0.527																																						uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1396-1398)Tcc>Ccc		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							163.0	136.0	145.0					14																	21465001		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21465001T>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1323T>C	14.37:g.21465001T>C						METTL17_uc001vym.3_Silent_p.T432T|METTL17_uc001vyn.3_Silent_p.T441T|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	p.S466P	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN			12	1593	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1396T>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385708	0.42308	.	.	ENSG00000165792	ENST00000382985;ENST00000556733	T	0.34859	1.34	5.37	-0.0828	0.13697	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.09310	N	1	P	0.36249	0.545	B	0.36289	0.221	T	0.19943	-1.0290	8	0.87932	D	0	.	5.2749	0.15643	0.3166:0.0:0.2466:0.4368	.	466	Q9H7H0-3	.	P	466;108	ENSP00000372445:S466P	ENSP00000372445:S466P	S	+	1	0	METTL17	20534841	0.000000	0.05858	0.022000	0.16811	0.152000	0.21847	-1.523000	0.02235	0.040000	0.15660	0.533000	0.62120	TCC		0.527	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		3	110	0	0	0	1	0	3	110				
RNF215	200312	broad.mit.edu	37	22	30782087	30782089	+	In_Frame_Del	DEL	AGA	AGA	-	rs5997629	byFrequency	TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr22:30782087_30782089delAGA	ENST00000382363.3	-	3	545_547	c.471_473delTCT	c.(469-474)cttctc>ctc	p.157_158LL>L		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTTCAGGATGAGAAGAAGCAGGG	0.606																																						uc003ahp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(469-474)cttctc>ctc		Homo sapiens ring finger protein 215 (RNF215), mRNA.																																				SO:0001651	inframe_deletion	200312					integral to membrane	zinc ion binding	g.chr22:30782087_30782089delAGA		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.471_473delTCT	22.37:g.30782090_30782092delAGA	ENSP00000371800:p.Leu158del					RNF215_uc011akw.2_In_Frame_Del_p.62_63LL>L	p.157_158LL>L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN			2	471_473	-			157					A6NEL1	In_Frame_Del	DEL	ENST00000382363.3	37	c.471_473delTCT	CCDS33633.1																																																																																				0.606	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	12						10	12	---	---	---	---
