#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
ARHGDIB	397	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000541546.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567																																																0													266.0	198.0	221.0					12																	15095522		2203	4300	6503	SO:0001819	synonymous_variant	397			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.540C>T	12.37:g.15095522G>A			B5BU79	Silent	SNP	ENST00000228945.4	37	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814158	0.16537	.	.	ENSG00000111348	ENST00000536592	.	.	.	4.73	-9.03	0.00737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6554	19.0707	0.93134	0.8544:0.0:0.1456:0.0	.	.	.	.	X	174	.	.	R	-	1	2	ARHGDIB	14986789	0.273000	0.24181	0.064000	0.19789	0.971000	0.66376	-0.294000	0.08309	-2.089000	0.00860	-0.145000	0.13849	CGA		0.567	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		63	161	63	161
MYO1A	4640	hgsc.bcm.edu;broad.mit.edu	37	12	57423554	57423554	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:57423554G>A	ENST00000442789.2	-	26	2981	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	TAC3_ENST00000415231.1_5'Flank|MYO1A_ENST00000300119.3_Silent_p.A898A|MYO1A_ENST00000544473.1_Silent_p.A736A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	898	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTTCACGGCCTCTGCCA	0.587																																																0													149.0	135.0	140.0					12																	57423554		2203	4300	6503	SO:0001819	synonymous_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2694C>T	12.37:g.57423554G>A			Q9UQD7	Silent	SNP	ENST00000442789.2	37	CCDS8929.1																																																																																				0.587	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		16	191	16	191
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	99076871	99076871	+	Silent	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr13:99076871C>T	ENST00000319562.6	+	17	2137	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000376586.2_Silent_p.G624G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	624	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAATCGGCGATGTCATGC	0.502																																																0													133.0	112.0	119.0					13																	99076871		2203	4300	6503	SO:0001819	synonymous_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1872C>T	13.37:g.99076871C>T			Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637131	0.14386	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	.	3.0467	0.06155	0.1742:0.2255:0.3974:0.203	.	.	.	.	V	153	.	.	A	+	2	0	FARP1	97874872	0.000000	0.05858	0.054000	0.19295	0.938000	0.57974	-6.717000	0.00056	-3.115000	0.00240	-0.955000	0.02649	GCG		0.502	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		8	36	8	36
PLCB2	5330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	40590542	40590542	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:40590542C>T	ENST00000260402.3	-	11	1286	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	346	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCACCTGGCGGTACATCTC	0.627																																																0													39.0	44.0	42.0					15																	40590542		2109	4250	6359	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1037G>A	15.37:g.40590542C>T	ENSP00000260402:p.Arg346His		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781418	0.90282	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.66099	-0.19;-0.19	4.38	4.38	0.52667	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.089829	0.51477	D	0.000089	T	0.80914	0.4715	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.97110	1.0;0.756;0.995	D	0.84593	0.0668	10	0.87932	D	0	.	17.4798	0.87670	0.0:1.0:0.0:0.0	.	346;346;346	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	346	ENSP00000260402:R346H;ENSP00000411991:R346H	ENSP00000260402:R346H	R	-	2	0	PLCB2	38377834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.775000	0.62346	2.438000	0.82558	0.563000	0.77884	CGC		0.627	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			43	62	43	62
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	42178327	42178327	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:42178327C>T	ENST00000320955.6	-	7	1353	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	376					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTTGGAGTGCTGTCTGTAGC	0.667																																																0													15.0	17.0	16.0					15																	42178327		1977	4141	6118	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1126G>A	15.37:g.42178327C>T	ENSP00000317790:p.Ala376Thr			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	C	3.009	-0.204303	0.06180	.	.	ENSG00000137877	ENST00000320955	T	0.53206	0.63	4.84	1.84	0.25277	.	0.837485	0.10618	N	0.653704	T	0.25938	0.0632	N	0.04880	-0.145	0.09310	N	1	B	0.18310	0.027	B	0.22152	0.038	T	0.23119	-1.0197	10	0.38643	T	0.18	.	7.7053	0.28646	0.0:0.5005:0.0:0.4995	.	376	Q9NRC6	SPTN5_HUMAN	T	376	ENSP00000317790:A376T	ENSP00000317790:A376T	A	-	1	0	SPTBN5	39965619	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	0.863000	0.27913	0.448000	0.26722	0.655000	0.94253	GCA		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		13	29	13	29
VPS25	84313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40926665	40926665	+	Splice_Site	SNP	A	A	G			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:40926665A>G	ENST00000253794.2	+	3	241	c.201A>G	c.(199-201)cgA>cgG	p.R67R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	67					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTAAACCAGGAAAGCTTCCTG	0.453																																																0													116.0	111.0	113.0					17																	40926665		2203	4300	6503	SO:0001630	splice_region_variant	84313			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.200-1A>G	17.37:g.40926665A>G			B2R581	Splice_Site	SNP	ENST00000253794.2	37	CCDS11438.1																																																																																				0.453	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353	Silent	8	23	8	23
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000572681.2_Missense_Mutation_p.R1110W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(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)				GGACCACATCCGGCGGCCCAT	0.622			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	central_nervous_system(1)											65.0	70.0	68.0					19																	42791715		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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	86	18	86
GPR25	2848	hgsc.bcm.edu;broad.mit.edu	37	1	200842872	200842872	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr1:200842872G>T	ENST00000304244.2	+	1	790	c.707G>T	c.(706-708)gGt>gTt	p.G236V		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGCACGTGGGTCGGGCCCGG	0.682																																																0													27.0	32.0	30.0					1																	200842872		2187	4287	6474	SO:0001583	missense	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.707G>T	1.37:g.200842872G>T	ENSP00000301917:p.Gly236Val		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151148	0.38021	.	.	ENSG00000170128	ENST00000304244	T	0.43688	0.94	4.52	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.243054	0.20275	U	0.095583	T	0.46908	0.1417	L	0.50919	1.6	0.20638	N	0.999876	P	0.41624	0.757	P	0.50617	0.646	T	0.34129	-0.9841	10	0.62326	D	0.03	-0.7626	8.7369	0.34534	0.0:0.1656:0.6632:0.1712	.	236	O00155	GPR25_HUMAN	V	236	ENSP00000301917:G236V	ENSP00000301917:G236V	G	+	2	0	GPR25	199109495	0.000000	0.05858	0.866000	0.34008	0.464000	0.32679	0.413000	0.21148	0.845000	0.35118	0.462000	0.41574	GGT		0.682	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		6	105	6	105
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10906911	10906911	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:10906911G>A	ENST00000361285.4	-	24	1979	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_ENST00000342420.5_Silent_p.S512S|TPTE_ENST00000298232.7_Silent_p.S532S|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398																																																2	Substitution - coding silent(2)	endometrium(2)											129.0	114.0	119.0					21																	10906911		2203	4300	6503	SO:0001819	synonymous_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1650C>T	21.37:g.10906911G>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																				0.398	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	75	5	75
NOL12	79159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	38087302	38087302	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr22:38087302C>T	ENST00000359114.4	+	6	671	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	201						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAAGGCCCAGCGCCGCCGTCT	0.632																																																0													44.0	45.0	45.0					22																	38087302		2203	4300	6503	SO:0001583	missense	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.601C>T	22.37:g.38087302C>T	ENSP00000352021:p.Arg201Cys			Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846169	0.71603	.	.	ENSG00000256872	ENST00000359114	D	0.84298	-1.83	6.08	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.66939	2.045	0.80722	D	1	B	0.23128	0.08	B	0.15052	0.012	T	0.81765	-0.0783	10	0.87932	D	0	-7.6498	13.3568	0.60633	0.0:0.927:0.0:0.073	.	201	Q9UGY1	NOL12_HUMAN	C	201	ENSP00000352021:R201C	ENSP00000352021:R201C	R	+	1	0	Z83844.2	36417248	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	2.595000	0.46197	1.595000	0.50050	-0.229000	0.12294	CGC		0.632	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		24	45	24	45
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			23	27	23	27
AARS2	57505	hgsc.bcm.edu;broad.mit.edu	37	6	44270856	44270856	+	Silent	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr6:44270856C>T	ENST00000244571.4	-	16	2204	c.2202G>A	c.(2200-2202)ttG>ttA	p.L734L	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGCTGGGTCCAATGCATGGG	0.627																																																0													56.0	60.0	59.0					6																	44270856		2203	4300	6503	SO:0001819	synonymous_variant	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2202G>A	6.37:g.44270856C>T				Silent	SNP	ENST00000244571.4	37	CCDS34464.1																																																																																				0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		6	90	6	90
RAB33A	9363	hgsc.bcm.edu;broad.mit.edu	37	X	129306042	129306042	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:129306042G>A	ENST00000257017.4	+	1	420	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	2					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGATGGCGCAGCCCATCC	0.692																																																0													18.0	17.0	17.0					X																	129306042		2197	4296	6493	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.6G>A	X.37:g.129306042G>A			Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	CCDS14621.1																																																																																				0.692	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		17	34	17	34
MAMLD1	10046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	149638921	149638921	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:149638921C>G	ENST00000370401.2	+	4	1386	c.1076C>G	c.(1075-1077)cCa>cGa	p.P359R	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	359	Poly-Pro.		P -> S (in dbSNP:rs41313406). {ECO:0000269|PubMed:17086185}.		male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccaccacccccaTTCAGCCCC	0.612																																																0													82.0	66.0	72.0					X																	149638921		2202	4300	6502	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1076C>G	X.37:g.149638921C>G	ENSP00000359428:p.Pro359Arg		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	2.342	-0.350972	0.05173	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	1.18	0.111	0.14619	.	0.161882	0.29699	N	0.011432	T	0.74023	0.3662	M	0.71581	2.175	0.09310	N	1	D;D;B;P	0.89917	1.0;1.0;0.386;0.923	D;D;B;P	0.91635	0.999;0.998;0.167;0.504	T	0.62053	-0.6935	9	.	.	.	-0.7732	4.5658	0.12186	0.0:0.5867:0.4133:0.0	.	321;334;334;359	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	321;359;334;359;334	ENSP00000359428:P359R;ENSP00000414517:P334R;ENSP00000262858:P359R;ENSP00000397438:P334R	.	P	+	2	0	MAMLD1	149389579	0.086000	0.21541	0.000000	0.03702	0.094000	0.18550	3.358000	0.52284	-0.025000	0.13918	0.600000	0.82982	CCA		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		45	174	45	174
G6PD	2539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153762634	153762634	+	Missense_Mutation	SNP	G	G	A	rs5030868	byFrequency	TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:153762634G>A	ENST00000393564.2	-	6	675	c.563C>T	c.(562-564)tCc>tTc	p.S188F	G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.S218F	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	188			S -> F (in Sassari/Cagliari; class II; frequent in the Mediterranean; dbSNP:rs5030868). {ECO:0000269|PubMed:2912069}.		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACAGGGAGGAGATGTGGTT	0.632													G|||	3	0.000794702	0.0	0.0	3775	,	,		14000	0.0		0.0	False		,,,				2504	0.0031															0			GRCh37	CM880032	G6PD	M	rs5030868	G	PHE/SER,PHE/SER	2,3833		0,2,0,1630,571	99.0	81.0	87.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	653,563	5.7	0.8	X	dbSNP_113	87	5,6723		0,3,2,2425,1870	yes	missense,missense	G6PD	NM_000402.3,NM_001042351.1	155,155	0,5,2,4055,2441	AA,AG,A,GG,G		0.0743,0.0522,0.0663	benign,benign	218/546,188/516	153762634	7,10556	2203	4300	6503	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.563C>T	X.37:g.153762634G>A	ENSP00000377194:p.Ser188Phe		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642734	0.67244	5.22E-4	7.43E-4	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.65	5.65	0.86999	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.177639	0.50627	D	0.000101	D	0.97977	0.9334	M	0.89214	3.015	0.80722	D	1	B;B	0.17465	0.022;0.018	B;B	0.22386	0.039;0.023	D	0.96766	0.9565	10	0.59425	D	0.04	.	15.9286	0.79644	0.0:0.0:1.0:0.0	rs5030868	188;218	P11413;P11413-3	G6PD_HUMAN;.	F	218;188;188;188;189;189;188	ENSP00000377192:S218F;ENSP00000377194:S188F;ENSP00000358633:S188F;ENSP00000395599:S189F;ENSP00000400648:S189F;ENSP00000394690:S188F	ENSP00000291567:S188F	S	-	2	0	G6PD	153415828	1.000000	0.71417	0.835000	0.33067	0.972000	0.66771	6.312000	0.72840	2.361000	0.80049	0.513000	0.50165	TCC		0.632	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		46	112	46	112
