#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
SVIL	6840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	29770516	29770516	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr10:29770516G>T	ENST00000355867.4	-	28	5849	c.5097C>A	c.(5095-5097)caC>caA	p.H1699Q	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.H491Q|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.H1273Q|SVIL_ENST00000535393.1_Missense_Mutation_p.H613Q|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.H1699Q|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1699					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAATACCTTGTGCTGGGCAA	0.463																																																0													183.0	203.0	196.0					10																	29770516		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5097C>A	10.37:g.29770516G>T	ENSP00000348128:p.His1699Gln		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415521	0.01136	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	3.94	0.78	0.18556	.	0.537320	0.21522	N	0.073183	T	0.02929	0.0087	N	0.00308	-1.67	0.28197	N	0.927526	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43196	-0.9406	10	0.06099	T	0.92	-8.8179	7.1275	0.25479	0.0:0.5585:0.3431:0.0984	.	613;491;1273;1699	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	Q	1273;1699;1699;613;653;491	ENSP00000364549:H1273Q;ENSP00000364547:H1699Q;ENSP00000348128:H1699Q;ENSP00000445472:H613Q;ENSP00000440343:H491Q	ENSP00000348128:H1699Q	H	-	3	2	SVIL	29810522	0.998000	0.40836	0.994000	0.49952	0.524000	0.34500	0.875000	0.28079	0.053000	0.16036	-0.311000	0.09066	CAC		0.463	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			192	365	192	365
SLC7A9	11136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	33355655	33355655	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:33355655T>G	ENST00000023064.4	-	3	306	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	SLC7A9_ENST00000587772.1_Missense_Mutation_p.I39L|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.I39L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	39					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTGCCCACGATGATGGAGATG	0.622																																					GBM(181;1335 2108 9644 44178 46689)											0													170.0	158.0	162.0					19																	33355655		2203	4300	6503	SO:0001583	missense	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.115A>C	19.37:g.33355655T>G	ENSP00000023064:p.Ile39Leu		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935490	0.92458	.	.	ENSG00000021488	ENST00000023064	D	0.90261	-2.64	4.87	4.87	0.63330	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.91623	0.7353	M	0.64567	1.98	0.80722	D	1	P	0.39022	0.655	P	0.47015	0.534	D	0.92215	0.5779	10	0.59425	D	0.04	.	14.7704	0.69671	0.0:0.0:0.0:1.0	.	39	P82251	BAT1_HUMAN	L	39	ENSP00000023064:I39L	ENSP00000023064:I39L	I	-	1	0	SLC7A9	38047495	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.015000	0.88690	1.956000	0.56807	0.379000	0.24179	ATC		0.622	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			83	64	83	64
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42791743	42791743	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42791743T>G	ENST00000575354.2	+	5	669	c.629T>G	c.(628-630)tTc>tGc	p.F210C	CIC_ENST00000160740.3_Missense_Mutation_p.F210C|CIC_ENST00000572681.2_Missense_Mutation_p.F1119C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCATGATCTTCAGCAAGCGG	0.627			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													65.0	67.0	66.0					19																	42791743		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.629T>G	19.37:g.42791743T>G	ENSP00000458663:p.Phe210Cys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711614	0.48517	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88194	0.6371	H	0.98738	4.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91613	0.5304	8	0.87932	D	0	-10.7648	11.626	0.51145	0.0:0.0:0.0:1.0	.	210	Q96RK0	CIC_HUMAN	C	210	.	ENSP00000160740:F210C	F	+	2	0	CIC	47483583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	1.853000	0.53794	0.454000	0.30748	TTC		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			39	38	39	38
RAB3GAP2	25782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	220387224	220387224	+	Missense_Mutation	SNP	C	C	T	rs371630366		TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:220387224C>T	ENST00000358951.2	-	3	394	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	93					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTTTTGCTCTCGAGCTATCAC	0.363																																																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	106.0	108.0		278	5.7	1.0	1		108	0,8600		0,0,4300	no	missense	RAB3GAP2	NM_012414.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	93/1394	220387224	1,13005	2203	4300	6503	SO:0001583	missense	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.278G>A	1.37:g.220387224C>T	ENSP00000351832:p.Arg93Gln		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098643	0.56183	2.27E-4	0.0	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.66	5.66	0.87406	.	0.156225	0.56097	D	0.000021	T	0.18045	0.0433	L	0.29908	0.895	0.47123	D	0.999321	P;P	0.40476	0.718;0.6	B;B	0.29785	0.107;0.085	T	0.03060	-1.1077	10	0.29301	T	0.29	.	10.6179	0.45462	0.0:0.8548:0.0:0.1452	.	93;93	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	Q	93	ENSP00000351832:R93Q	ENSP00000351832:R93Q	R	-	2	0	RAB3GAP2	218453847	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.177000	0.50871	2.829000	0.97493	0.591000	0.81541	CGA		0.363	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		25	58	25	58
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			46	72	46	72
GIMAP6	474344	broad.mit.edu;ucsc.edu	37	7	150325310	150325310	+	Missense_Mutation	SNP	C	C	T	rs138521615	byFrequency	TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:150325310C>T	ENST00000328902.5	-	3	592	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R51H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	126	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGCACGGCGTGGGGC	0.622																																																0								C	MET/VAL	0,4406		0,0,2203	53.0	56.0	55.0		376	3.1	0.9	7	dbSNP_134	55	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GIMAP6	NM_024711.5	21	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	126/293	150325310	4,13002	2203	4300	6503	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.376G>A	7.37:g.150325310C>T	ENSP00000330374:p.Val126Met		C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	8.179|8.179	0.793385|0.793385	0.16327|0.16327	0.0|0.0	4.65E-4|4.65E-4	ENSG00000133561|ENSG00000133561	ENST00000493969|ENST00000328902;ENST00000392862	.|T	.|0.08458	.|3.09	4.07|4.07	3.14|3.14	0.36123|0.36123	.|AIG1 (1);	.|0.140369	.|0.48767	.|D	.|0.000164	T|T	0.22244|0.22244	0.0536|0.0536	M|M	0.73217|0.73217	2.22|2.22	0.27428|0.27428	N|N	0.954093|0.954093	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.68943	.|0.96;0.961	T|T	0.00819|0.00819	-1.1553|-1.1553	6|10	0.87932|0.59425	D|D	0|0.04	.|.	8.7634|8.7634	0.34689|0.34689	0.0:0.7444:0.2556:0.0|0.0:0.7444:0.2556:0.0	.|.	.|126;46	.|Q6P9H5;Q6P9H5-2	.|GIMA6_HUMAN;.	H|M	51|126;187	.|ENSP00000330374:V126M	ENSP00000418304:R51H|ENSP00000330374:V126M	R|V	-|-	2|1	0|0	GIMAP6|GIMAP6	149956243|149956243	0.004000|0.004000	0.15560|0.15560	0.935000|0.935000	0.37517|0.37517	0.118000|0.118000	0.20060|0.20060	-0.061000|-0.061000	0.11693|0.11693	2.123000|2.123000	0.65237|0.65237	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		36	84	36	84
CIC	23152	broad.mit.edu	37	19	42799060	42799060	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42799060G>A	ENST00000575354.2	+	20	4584	c.4544G>A	c.(4543-4545)cGc>cAc	p.R1515H	CIC_ENST00000160740.3_Missense_Mutation_p.R1513H|CIC_ENST00000572681.2_Missense_Mutation_p.R2421H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGTGAGGTGCGCCAGAAGATC	0.632			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	2	Substitution - Missense(2)	central_nervous_system(2)											45.0	45.0	45.0					19																	42799060		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4544G>A	19.37:g.42799060G>A	ENSP00000458663:p.Arg1515His		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573446	0.86542	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.48395	D	0.999647	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-10.1007	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1515	Q96RK0	CIC_HUMAN	H	1515	.	ENSP00000160740:R1515H	R	+	2	0	CIC	47490900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGC		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	46	4	46
