#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_BAM_File	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_Chromosome_hg18	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_End_position_hg18	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RBMS1	5937	genome.wustl.edu	37	2	161133832	161133832	+	Silent	SNP	C	C	T			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr2:161133832C>T	ENST00000348849.3	-	12	1555	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	RBMS1_ENST00000409972.1_Silent_p.T339T|RBMS1_ENST00000409289.2_Silent_p.T339T|RBMS1_ENST00000392753.3_Silent_p.T388T|RBMS1_ENST00000409075.1_Silent_p.T339T|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	375					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GAACCGCTGTCGTCTGCATAT	0.428																																						dbGAP											0			2											138.0	107.0	118.0					2																	161133832		2203	4300	6503	160842078	SO:0001819	synonymous_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1125G>A	2.37:g.161133832C>T		Somatic	120	7.63	10		8	52.94	9	WXS	Illumina HiSeq	Phase_IV	160842078	60	50.00	60	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.T375	ENST00000348849.3	37	c.1125	CCDS2213.1	2																																																																																			-	NULL		0.428	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	protein_coding	OTTHUMT00000255043.4	C	NM_016836		160842078	-1	no_errors	NM_016836.4	genbank	human	reviewed	54_36p	silent	SNP	0.019	T
ZNF385B	151126	genome.wustl.edu	37	2	180679349	180679349	+	Intron	SNP	T	T	C			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr2:180679349T>C	ENST00000410066.1	-	2	405					NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGGCCCTCAATGGTGGCGACC	0.522																																					Colon(155;204 2491 32774 51842)	dbGAP											0			2																																								180387594	SO:0001627	intron_variant	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.199-43950A>G	2.37:g.180679349T>C		Somatic	232	2.10	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	180387594	172	43.61	133	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	HMMPfam_DIM1,superfamily_Thioredoxin-like	p.N124	ENST00000410066.1	37	c.372	CCDS33339.1	2																																																																																			-	HMMPfam_DIM1,superfamily_Thioredoxin-like		0.522	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131482	protein_coding	OTTHUMT00000335972.1	T	NM_152520		180387594	+1	no_errors	XM_001722616.1	genbank	human	model	54_36p	silent	SNP	1.000	C
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	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)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(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)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				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	Somatic	114	4.20	5		81	46.36	70	WXS	Illumina HiSeq	Phase_IV	208821358	63	48.36	59	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	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	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HECW1	23072	genome.wustl.edu	37	7	43591889	43591889	+	Silent	SNP	G	G	A	rs374730956		TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr7:43591889G>A	ENST00000395891.2	+	28	5069	c.4464G>A	c.(4462-4464)gcG>gcA	p.A1488A	HECW1_ENST00000453890.1_Silent_p.A1454A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1488	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGCACCGCGGAAATCGACC	0.522																																						dbGAP											0			7						G		0,4066		0,0,2033	120.0	124.0	122.0		4464	-10.7	0.6	7		122	1,8363		0,1,4181	no	coding-synonymous	HECW1	NM_015052.3		0,1,6214	AA,AG,GG		0.012,0.0,0.0080		1488/1607	43591889	1,12429	2033	4182	6215	43558414	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4464G>A	7.37:g.43591889G>A		Somatic	297	5.61	18		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	43558414	177	44.10	142	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.A1488	ENST00000395891.2	37	c.4464	CCDS5469.2	7																																																																																			-	HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43558414	+1	no_errors	NM_015052.3	genbank	human	validated	54_36p	silent	SNP	0.315	A
OR52E8	390079	genome.wustl.edu	37	11	5878755	5878755	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr11:5878755T>C	ENST00000537935.1	-	1	209	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGAGACTCTGCTCAGTC	0.468																																						dbGAP											0			11											118.0	137.0	131.0					11																	5878755		2146	4296	6442	5835331	SO:0001583	missense	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.178A>G	11.37:g.5878755T>C	ENSP00000444054:p.Ser60Gly	Somatic	166	4.60	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	5835331	121	41.55	86	B9EH38	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S60G	ENST00000537935.1	37	c.178	CCDS31400.1	11	.	.	.	.	.	.	.	.	.	.	T	9.700	1.154292	0.21371	.	.	ENSG00000183269	ENST00000537935	T	0.00441	7.41	4.35	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.173756	0.40554	N	0.001066	T	0.00580	0.0019	M	0.89095	3.005	0.29052	N	0.884421	B	0.12013	0.005	B	0.16722	0.016	T	0.14035	-1.0487	10	0.72032	D	0.01	.	9.2557	0.37581	0.162:0.0:0.0:0.838	.	60	Q6IFG1	O52E8_HUMAN	G	60	ENSP00000444054:S60G	ENSP00000444054:S60G	S	-	1	0	OR52E8	5835331	0.058000	0.20735	0.215000	0.23724	0.053000	0.15095	1.933000	0.40153	0.771000	0.33359	0.448000	0.29417	AGT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	protein_coding	OTTHUMT00000401145.1	T	NM_001005168		5835331	-1	no_errors	NM_001005168.1	genbank	human	provisional	54_36p	missense	SNP	0.746	C
AGBL2	79841	genome.wustl.edu	37	11	47712055	47712055	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr11:47712055C>A	ENST00000525123.1	-	10	1489	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y	AGBL2_ENST00000357610.3_Missense_Mutation_p.D402Y|AGBL2_ENST00000528244.1_Missense_Mutation_p.D364Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D402Y|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	402						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CATTGCAAATCAGTGTATGTA	0.468																																						dbGAP											0			11											163.0	138.0	146.0					11																	47712055		2201	4298	6499	47668631	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1204G>T	11.37:g.47712055C>A	ENSP00000435582:p.Asp402Tyr	Somatic	545	3.18	18		3	0.00	0	WXS	Illumina HiSeq	Phase_IV	47668631	197	45.08	165	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases	p.D402Y	ENST00000525123.1	37	c.1204	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824780	0.50739	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.57	3.61	0.41365	.	0.136846	0.64402	D	0.000003	T	0.56262	0.1973	M	0.74546	2.27	0.38222	D	0.940778	D;D;D	0.76494	0.999;0.983;0.983	D;P;D	0.71656	0.974;0.885;0.942	T	0.60571	-0.7237	9	.	.	.	-18.175	11.3836	0.49771	0.0:0.8463:0.0:0.1537	.	364;364;402	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Y	402;402;402;364	ENSP00000435582:D402Y;ENSP00000350228:D402Y;ENSP00000298861:D402Y;ENSP00000436630:D364Y	.	D	-	1	0	AGBL2	47668631	0.798000	0.28890	0.018000	0.16275	0.961000	0.63080	1.459000	0.35234	0.753000	0.32945	-0.345000	0.07892	GAT	-	superfamily_Zn-dependent exopeptidases		0.468	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	protein_coding	OTTHUMT00000383726.2	C	NM_024783		47668631	-1	no_errors	NM_024783.2	genbank	human	validated	54_36p	missense	SNP	0.729	A
LYRM5	144363	genome.wustl.edu	37	12	25357224	25357224	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr12:25357224C>T	ENST00000381356.4	+	3	410	c.251C>T	c.(250-252)tCa>tTa	p.S84L	LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.S82L|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.S82L|LYRM5_ENST00000556885.1_Missense_Mutation_p.S82L|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556927.1_Missense_Mutation_p.S82L	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	84						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			CGCTATTATTCAGATACCAAC	0.313																																						dbGAP											0			12											53.0	52.0	52.0					12																	25357224		1842	4093	5935	25248491	SO:0001583	missense	0			AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"""LYR motif containing"""	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.251C>T	12.37:g.25357224C>T	ENSP00000370761:p.Ser84Leu	Somatic	255	3.02	8		22	45.00	18	WXS	Illumina HiSeq	Phase_IV	25248491	179	34.06	94	J3KPI7	Missense_Mutation	SNP	HMMPfam_Complex1_LYR	p.S84L	ENST00000381356.4	37	c.251	CCDS53764.1	12	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258425	0.39896	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	6.03	4.12	0.48240	.	0.597033	0.17599	N	0.168479	T	0.16214	0.0390	.	.	.	0.25243	N	0.989737	B	0.22983	0.078	B	0.18263	0.021	T	0.05451	-1.0884	9	0.54805	T	0.06	.	5.0485	0.14496	0.2327:0.5602:0.1317:0.0753	.	82	Q6IPR1	LYRM5_HUMAN	L	82;84;82;82;82	ENSP00000450584:S82L;ENSP00000370761:S84L;ENSP00000451494:S82L;ENSP00000452146:S82L;ENSP00000450443:S82L	ENSP00000370761:S84L	S	+	2	0	LYRM5	25248491	0.987000	0.35691	1.000000	0.80357	0.966000	0.64601	1.777000	0.38604	2.854000	0.98071	0.655000	0.94253	TCA	-	NULL		0.313	LYRM5-201	KNOWN	basic|CCDS	protein_coding	LYRM5	protein_coding		C	NM_001001660		25248491	+1	no_errors	NM_001001660.2	genbank	human	validated	54_36p	missense	SNP	0.130	T
RYR3	6263	genome.wustl.edu	37	15	34123246	34123246	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr15:34123246T>A	ENST00000389232.4	+	86	11487	c.11417T>A	c.(11416-11418)cTg>cAg	p.L3806Q	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3806					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAAAGCTCTGGCAGTCACC	0.378																																						dbGAP											0			15											96.0	89.0	91.0					15																	34123246		1863	4095	5958	31910538	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11417T>A	15.37:g.34123246T>A	ENSP00000373884:p.Leu3806Gln	Somatic	162	10.38	19		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	31910538	110	48.64	107	O15175|Q15412	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand	p.L3806Q	ENST00000389232.4	37	c.11417	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814773	0.90790	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.69926	-0.44	5.65	5.65	0.86999	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000008	T	0.77579	0.4151	L	0.46157	1.445	0.53005	D	0.999963	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.79519	-0.1770	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	3801;3806	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3806;3805;3802	ENSP00000373884:L3806Q	ENSP00000354735:L3802Q	L	+	2	0	RYR3	31910538	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.371000	0.80710	0.533000	0.62120	CTG	-	HMMPfam_RIH_assoc		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	T			31910538	+1	no_errors	NM_001036.3	genbank	human	validated	54_36p	missense	SNP	0.980	A
USB1	79650	genome.wustl.edu	37	16	58051273	58051273	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr16:58051273C>G	ENST00000539737.2	+	4	564	c.485C>G	c.(484-486)gCc>gGc	p.A162G	USB1_ENST00000219281.3_Missense_Mutation_p.A180G|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.A129G	NM_001195302.1	NP_001182231.1			U6 snRNA biogenesis 1																		TCAGGGCATGCCCAGTTCCTG	0.537																																						dbGAP											0			16											167.0	146.0	153.0					16																	58051273		2198	4300	6498	56608774	SO:0001583	missense	0			AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000539737.2:c.485C>G	16.37:g.58051273C>G	ENSP00000446143:p.Ala162Gly	Somatic	434	3.90	18		31	43.64	24	WXS	Illumina HiSeq	Phase_IV	56608774	116	43.69	90		Missense_Mutation	SNP	HMMPfam_HVSL	p.A180G	ENST00000539737.2	37	c.539	CCDS55998.1	16	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340298	0.41398	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737	T;T	0.55413	0.96;0.52	5.24	4.28	0.50868	.	0.737577	0.13336	N	0.395514	T	0.36580	0.0972	N	0.21373	0.66	0.80722	D	1	B;B	0.20550	0.046;0.045	B;B	0.27170	0.051;0.077	T	0.12293	-1.0553	10	0.23302	T	0.38	-5.4662	6.3521	0.21381	0.1843:0.7193:0.0:0.0964	.	162;180	B4DZW5;Q9BQ65	.;CP057_HUMAN	G	180;128;162	ENSP00000219281:A180G;ENSP00000446143:A162G	ENSP00000219281:A180G	A	+	2	0	C16orf57	56608774	0.084000	0.21492	0.934000	0.37439	0.987000	0.75469	1.840000	0.39230	1.197000	0.43143	0.650000	0.86243	GCC	-	HMMPfam_HVSL		0.537	USB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	C16orf57	protein_coding	OTTHUMT00000429947.1	C	NM_024598		56608774	+1	no_errors	NM_024598.2	genbank	human	validated	54_36p	missense	SNP	0.769	G
