#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
ARHGAP32	9743	broad.mit.edu	37	11	128848708	128848708	+	Silent	SNP	C	C	G			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr11:128848708C>G	ENST00000310343.9	-	18	2036	c.2037G>C	c.(2035-2037)cgG>cgC	p.R679R	ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R|ARHGAP32_ENST00000524655.1_Silent_p.R605R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	679					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CACTCTCATTCCGCTGCAGCT	0.468																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2035-2037)cgG>cgC		Rho GTPase activating protein 32							89.0	84.0	86.0					11																	128848708		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128848708C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2037G>C	11.37:g.128848708C>G						ARHGAP32_ENST00000524655.1_Silent_p.R605R|ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R	p.R679R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			18	2036	-			679					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2037G>C	CCDS44769.1																																																																																				0.468	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		15	37	0	0	0	1	0	15	37				
KRT23	25984	broad.mit.edu	37	17	39092548	39092548	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:39092548C>T	ENST00000209718.3	-	2	732	c.308G>A	c.(307-309)cGc>cAc	p.R103H	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	103	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCAGGATGCGGCTTTCCAG	0.542																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(307-309)cGc>cAc		keratin 23 (histone deacetylase inducible)							93.0	95.0	94.0					17																	39092548		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092548C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.308G>A	17.37:g.39092548C>T	ENSP00000209718:p.Arg103His					KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	p.R103H	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			2	732	-		Breast(137;0.000301)|Ovarian(249;0.15)	103			Coil 1A.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.308G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222531	0.39300	.	.	ENSG00000108244	ENST00000209718	D	0.89617	-2.54	5.73	1.32	0.21799	Filament (1);	0.356387	0.24370	N	0.039108	D	0.85553	0.5723	M	0.65498	2.005	0.09310	N	0.999999	B	0.19706	0.038	B	0.17722	0.019	T	0.77970	-0.2387	10	0.87932	D	0	.	8.754	0.34635	0.0:0.6124:0.0:0.3876	.	103	Q9C075	K1C23_HUMAN	H	103	ENSP00000209718:R103H	ENSP00000209718:R103H	R	-	2	0	KRT23	36346074	0.000000	0.05858	0.002000	0.10522	0.822000	0.46500	0.192000	0.17096	0.292000	0.22492	0.557000	0.71058	CGC		0.542	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			4	122	0	0	0	1	0	4	122				
FASN	2194	broad.mit.edu	37	17	80040931	80040931	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:80040931T>C	ENST00000306749.2	-	33	5844	c.5626A>G	c.(5626-5628)Atc>Gtc	p.I1876V	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1876	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTCTTGGAGATGGCCGACATC	0.647																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5626-5628)Atc>Gtc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						96.0	90.0	92.0					17																	80040931		2198	4299	6497	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040931T>C	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5626A>G	17.37:g.80040931T>C	ENSP00000304592:p.Ile1876Val					FASN_ENST00000579758.1_5'UTR	p.I1876V	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		33	5844	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1876			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.5626A>G	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	4.563	0.104567	0.08731	.	.	ENSG00000169710	ENST00000306749	T	0.26810	1.71	5.05	-3.68	0.04463	.	0.361590	0.27764	N	0.017959	T	0.12987	0.0315	L	0.38838	1.175	0.45554	D	0.998509	B	0.06786	0.001	B	0.11329	0.006	T	0.09862	-1.0655	10	0.44086	T	0.13	-9.6319	0.9864	0.01447	0.2175:0.1847:0.1137:0.4841	.	1876	P49327	FAS_HUMAN	V	1876	ENSP00000304592:I1876V	ENSP00000304592:I1876V	I	-	1	0	FASN	77634220	0.195000	0.23338	0.166000	0.22797	0.073000	0.16967	0.270000	0.18607	-1.217000	0.02604	0.454000	0.30748	ATC		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		24	18	0	0	0	1	0	24	18				
HIST1H2AA	221613	broad.mit.edu	37	6	25726459	25726459	+	Silent	SNP	G	G	A	rs367946056		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18409	0.0		0.0	False		,,,				2504	0.0					ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(295-297)ggC>ggT		histone cluster 1, H2aa		G		1,4405	2.1+/-5.4	0,1,2202	298.0	252.0	268.0		297	-7.3	0.0	6		268	0,8600		0,0,4300	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		99/132	25726459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726459G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.297C>T	6.37:g.25726459G>A							p.G99G	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	331	-			99						Silent	SNP	ENST00000297012.3	37	c.297C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		64	80	0	0	0	1	0	64	80				
TCP10L2	401285	broad.mit.edu	37	6	167585686	167585686	+	Silent	SNP	G	G	A	rs35001773		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:167585686G>A	ENST00000366832.2	+	2	185	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	18										endometrium(1)|kidney(2)|lung(3)	6						CCCACCCAGAGGACCCGTGCC	0.662																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(52-54)gaG>gaA		t-complex 10-like 2																																				SO:0001819	synonymous_variant	401285							g.chr6:167585686G>A		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.54G>A	6.37:g.167585686G>A							p.E18E	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			2	185	+			18						Silent	SNP	ENST00000366832.2	37	c.54G>A	CCDS47514.1																																																																																				0.662	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		6	15	0	0	0	1	0	6	15				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A						OR8I2_ENST00000560768.1_3'UTR	p.A270A			Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		3	59	0	0	0	1	0	3	59				
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:79349251G>A	ENST00000233735.1	+	4	424	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.e4+1		regenerating islet-derived 1 alpha							97.0	88.0	91.0					2																	79349251		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349251G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.321+1G>A	2.37:g.79349251G>A							p.K107_splice	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			4	424	+			107			C-type lectin.		P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	37	c.321_splice	CCDS1964.1																																																																																				0.488	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Silent	28	44	0	0	0	1	0	28	44				
KY	339855	broad.mit.edu	37	3	134323111	134323111	+	Silent	SNP	C	C	T	rs374489792		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr3:134323111C>T	ENST00000423778.2	-	11	1357	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.T411T	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	432					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCACTTGAGCGTGTACTCCA	0.567																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1231-1233)acG>acA		kyphoscoliosis peptidase		C		0,4200		0,0,2100	61.0	61.0	61.0		1296	-1.4	1.0	3		61	1,8461		0,1,4230	no	coding-synonymous	KY	NM_178554.4		0,1,6330	TT,TC,CC		0.0118,0.0,0.0079		432/662	134323111	1,12661	2100	4231	6331	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134323111C>T	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1296G>A	3.37:g.134323111C>T						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.T432T	p.T411T			Q8NBH2	KY_HUMAN			10	1290	-			432					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1233G>A	CCDS46920.1																																																																																				0.567	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		11	27	0	0	0	1	0	11	27				
NEDD4	4734	broad.mit.edu	37	15	56208601	56208601	+	Missense_Mutation	SNP	A	A	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:56208601A>C	ENST00000508342.1	-	1	728	c.429T>G	c.(427-429)agT>agG	p.S143R	NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	143	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AAATGGCTGGACTGCTTACAA	0.408																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(427-429)agT>agG		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							210.0	189.0	196.0					15																	56208601		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208601A>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.429T>G	15.37:g.56208601A>C	ENSP00000424827:p.Ser143Arg					NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R	p.S143R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	728	-			143			Ser-rich.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.429T>G		.	.	.	.	.	.	.	.	.	.	A	13.22	2.171587	0.38315	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.42513	0.97;0.97;0.97	4.92	3.6	0.41247	.	17.337900	0.00166	N	0.000000	T	0.34308	0.0893	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.43701	0.815;0.718;0.815	P;B;P	0.45681	0.49;0.296;0.49	T	0.42632	-0.9440	10	0.87932	D	0	.	8.7334	0.34514	0.8695:0.0:0.1305:0.0	.	143;143;143	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	R	143	ENSP00000424827:S143R;ENSP00000345530:S143R;ENSP00000422705:S143R	ENSP00000345530:S143R	S	-	3	2	NEDD4	53995893	0.006000	0.16342	0.768000	0.31515	0.964000	0.63967	1.675000	0.37555	1.988000	0.58038	0.482000	0.46254	AGT		0.408	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		74	88	0	0	0	1	0	74	88				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	36	0	0	0	1	0	4	36				
LINC00303	284573	broad.mit.edu	37	1	204006301	204006301	+	lincRNA	SNP	G	G	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr1:204006301G>T	ENST00000367207.3	-	0	719							Q3SY05	CA157_HUMAN	long intergenic non-protein coding RNA 303																		CCTTCTCAGGGCCTTGCCCCT	0.512																																						ENST00000367207.3																			0																				117.0	100.0	105.0					1																	204006301		692	1591	2283			0							g.chr1:204006301G>T	AK097662		1q32.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000176754	ENSG00000176754		"""Long non-coding RNAs"""	26865	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 157"", ""non-protein coding RNA 303"""	C1orf157, NCRNA00303			Standard	NR_027902		Approved	FLJ40343	uc010pqo.1	Q3SY05	OTTHUMG00000036054		1.37:g.204006301G>T														0	719	-								Q3SY06|Q8N7U1	RNA	SNP	ENST00000367207.3	37																																																																																						0.512	LINC00303-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087885.3	NR_027902		4	9	1	0	1	1	1	4	9				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		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.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	43	0	0	0	1	0	30	43				
MEGF11	84465	broad.mit.edu	37	15	66210374	66210374	+	Silent	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:66210374G>A	ENST00000409699.2	-	16	2188	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	672	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612																																						ENST00000395614.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19								multiple EGF-like-domains 11							94.0	69.0	77.0					15																	66210374		2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66210374G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2016C>T	15.37:g.66210374G>A						MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N				A6BM72	MEG11_HUMAN			0	2076	-								Q17R86|Q6UXS5|Q8ND91|Q96KG6	Translation_Start_Site	SNP	ENST00000409699.2	37		CCDS10213.2																																																																																				0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		14	26	0	0	0	1	0	14	26				
WDR81	124997	broad.mit.edu	37	17	1633762	1633762	+	Silent	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:1633762G>A	ENST00000409644.1	+	2	3756	c.3756G>A	c.(3754-3756)ctG>ctA	p.L1252L	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_De_novo_Start_OutOfFrame|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Silent_p.L49L|WDR81_ENST00000419248.1_Silent_p.L25L|WDR81_ENST00000309182.5_Silent_p.L201L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1252					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTCCGCCTGCTGACGTCTT	0.647																																						ENST00000545662.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16								WD repeat domain 81							38.0	35.0	36.0					17																	1633762		2203	4299	6502	SO:0001819	synonymous_variant	124997							g.chr17:1633762G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3756G>A	17.37:g.1633762G>A						WDR81_ENST00000309182.5_Silent_p.L201L|WDR81_ENST00000419248.1_Silent_p.L25L|WDR81_ENST00000437219.2_Silent_p.L49L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000409644.1_Silent_p.L1252L|WDR81_ENST00000446363.1_Intron				B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	0	8	+								B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Translation_Start_Site	SNP	ENST00000409644.1	37		CCDS54062.1																																																																																				0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		10	13	0	0	0	1	0	10	13				
WEE2	494551	broad.mit.edu	37	7	141418984	141418984	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr7:141418984T>C	ENST00000397541.2	+	4	1104	c.698T>C	c.(697-699)cTg>cCg	p.L233P	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATTAAGAGGCTGGATGGATGT	0.363																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(697-699)cTg>cCg		WEE1 homolog 2 (S. pombe)							118.0	114.0	115.0					7																	141418984		1814	4080	5894	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141418984T>C	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.698T>C	7.37:g.141418984T>C	ENSP00000380675:p.Leu233Pro					WEE2-AS1_ENST00000488785.1_RNA	p.L233P	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			4	1104	+	Melanoma(164;0.0171)		233			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.698T>C	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453358	0.84209	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.65178	-0.14;-0.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107087	0.39834	U	0.001243	T	0.80834	0.4699	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84068	0.0378	10	0.87932	D	0	.	15.6207	0.76805	0.0:0.0:0.0:1.0	.	233	P0C1S8	WEE2_HUMAN	P	233;8	ENSP00000380675:L233P;ENSP00000420388:L8P	ENSP00000380675:L233P	L	+	2	0	WEE2	141065453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.538000	0.82048	2.094000	0.63399	0.454000	0.30748	CTG		0.363	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		50	63	0	0	0	1	0	50	63				
KIF24	347240	broad.mit.edu	37	9	34306264	34306264	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr9:34306264G>T	ENST00000402558.2	-	2	823	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K	KIF24_ENST00000379166.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	267	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAATATATTGAGTGAGGTCA	0.353																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(799-801)Caa>Aaa		kinesin family member 24							215.0	215.0	215.0					9																	34306264		1860	4085	5945	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34306264G>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.799C>A	9.37:g.34306264G>T	ENSP00000384433:p.Gln267Lys					KIF24_ENST00000402558.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K	p.Q267K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		3	918	-			267			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.799C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929660	0.52759	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.74421	-0.82;-0.84;-0.82;-0.84	5.83	5.83	0.93111	Kinesin, motor domain (4);	0.000000	0.39985	N	0.001203	T	0.51753	0.1693	N	0.00122	-2.065	0.25098	N	0.990809	B;B	0.33379	0.357;0.41	B;P	0.47891	0.332;0.56	T	0.62263	-0.6891	10	0.48119	T	0.1	.	15.5961	0.76583	0.0:0.1369:0.8631:0.0	.	267;267	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	K	267	ENSP00000384433:Q267K;ENSP00000368472:Q267K;ENSP00000368464:Q267K;ENSP00000340179:Q267K	ENSP00000340179:Q267K	Q	-	1	0	KIF24	34296264	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.227000	0.65305	2.770000	0.95276	0.655000	0.94253	CAA		0.353	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			61	89	1	0	1.7104e-27	1	1.80542e-27	61	89				
PDILT	204474	broad.mit.edu	37	16	20410472	20410472	+	Missense_Mutation	SNP	C	C	T	rs372343696		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr16:20410472C>T	ENST00000302451.4	-	2	399	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	51					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.A51T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCAGGCCAGCGGGCGTTAGC	0.577																																						ENST00000302451.4																			1	Substitution - Missense(1)	p.A51T(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(151-153)Gct>Act		protein disulfide isomerase-like, testis expressed		T	THR/ALA	0,4406		0,0,2203	128.0	116.0	120.0		151	2.2	0.0	16		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDILT	NM_174924.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	51/585	20410472	1,13005	2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410472C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.151G>A	16.37:g.20410472C>T	ENSP00000305465:p.Ala51Thr						p.A51T	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			2	399	-			51					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.151G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	c	8.803	0.933402	0.18206	0.0	1.16E-4	ENSG00000169340	ENST00000302451	T	0.03272	3.99	4.21	2.24	0.28232	Thioredoxin-like fold (2);	0.517494	0.20926	N	0.083189	T	0.02304	0.0071	N	0.20986	0.625	0.09310	N	1	B	0.30511	0.282	B	0.21546	0.035	T	0.47100	-0.9143	10	0.29301	T	0.29	.	6.1347	0.20225	0.0:0.7094:0.1887:0.1018	.	51	Q8N807	PDILT_HUMAN	T	51	ENSP00000305465:A51T	ENSP00000305465:A51T	A	-	1	0	PDILT	20317973	0.001000	0.12720	0.004000	0.12327	0.590000	0.36582	0.189000	0.17037	0.719000	0.32188	-0.185000	0.12909	GCT		0.577	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		46	57	0	0	0	1	0	46	57				
SPDL1	54908	broad.mit.edu	37	5	169015540	169015540	+	Silent	SNP	A	A	G			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr5:169015540A>G	ENST00000265295.4	+	2	399	c.120A>G	c.(118-120)caA>caG	p.Q40Q	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TACAGAATCAATTGGATAAAT	0.408																																						ENST00000265295.4																			0											c.(118-120)caA>caG		spindle apparatus coiled-coil protein 1							115.0	110.0	112.0					5																	169015540		2203	4300	6503	SO:0001819	synonymous_variant	54908							g.chr5:169015540A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.120A>G	5.37:g.169015540A>G						SPDL1_ENST00000510751.1_3'UTR	p.Q40Q	NM_017785.4	NP_060255.3					2	399	+									Silent	SNP	ENST00000265295.4	37	c.120A>G	CCDS4370.1																																																																																				0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		6	33	0	0	0	1	0	6	33				
CCDC18	343099	broad.mit.edu	37	1	93744310	93744310	+	IGR	DEL	T	T	-	rs372723050		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr1:93744310delT	ENST00000343253.7	+	0	4867				RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAATGCaaattttttttttt	0.279																																						ENST00000451302.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:93744310delT			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598		1.37:g.93744310delT						RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA								0	1008	-								Q6ZU17	RNA	DEL	ENST00000343253.7	37																																																																																						0.279	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		2	4						2	4	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	58687297	58687298	+	lincRNA	INS	-	-	T	rs142388743|rs199521338|rs570654914		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:58687297_58687298insT	ENST00000452840.1	+	0	127																											ATCTGTGTTTCTTTTTTTTTTC	0.312																																						ENST00000452840.1																			0																																																			0							g.chr2:58687297_58687298insT																													2.37:g.58687307_58687307dupT														0	127	+									RNA	INS	ENST00000452840.1	37																																																																																						0.312	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			3	3						3	3	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		5	8						5	8	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938201	76938202	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chrX:76938201_76938202delAG	ENST00000373344.5	-	9	2760_2761	c.2546_2547delCT	c.(2545-2547)tctfs	p.S850fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	850					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATCTTCAGAAGAGTCAAAATC	0.342			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2545-2547)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938201_76938202delAG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2546_2547delCT	X.37:g.76938203_76938204delAG	ENSP00000362441:p.Ser850fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs	p.S850fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2760_2761	-			850					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2546_2547delCT	CCDS14434.1																																																																																				0.342	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		123	56						123	56	---	---	---	---
