#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
BTBD8	284697	genome.wustl.edu	37	1	92612781	92612781	+	Silent	SNP	T	T	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr1:92612781T>A	ENST00000342818.3	+	8	1211	c.975T>A	c.(973-975)atT>atA	p.I325I	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	325						nucleus (GO:0005634)		p.I325I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GCCTGATTATTGCTCATTCAG	0.328																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											173.0	170.0	171.0					1																	92612781		2203	4300	6503	92385369	SO:0001819	synonymous_variant	0			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.975T>A	1.37:g.92612781T>A		Somatic	608	1.46	9		2	33.33	1	WXS	Illumina HiSeq	Phase_IV	92385369	895	36.07	505	Q6V9S5	Silent	SNP	HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB	p.I325	ENST00000342818.3	37	c.975	CCDS737.1	1																																																																																			-	NULL		0.328	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	protein_coding	OTTHUMT00000028372.1	T	NM_183242		92385369	+1	no_errors	NM_183242.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
ZC3H8	84524	genome.wustl.edu	37	2	112994154	112994154	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr2:112994154G>A	ENST00000409573.2	-	4	618	c.489C>T	c.(487-489)agC>agT	p.S163S	ZC3H8_ENST00000272570.5_Silent_p.S163S			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	163					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S163S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						CCTGTGAGCCGCTGTTCCTCA	0.428																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											180.0	175.0	177.0					2																	112994154		1916	4125	6041	112710625	SO:0001819	synonymous_variant	0			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.489C>T	2.37:g.112994154G>A		Somatic	1187	2.78	34		5	54.55	6	WXS	Illumina HiSeq	Phase_IV	112710625	1246	33.99	642	Q9BZ75	Silent	SNP	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1	p.S163	ENST00000409573.2	37	c.489	CCDS46392.1	2																																																																																			-	NULL		0.428	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	protein_coding	OTTHUMT00000330521.3	G	NM_032494		112710625	-1	no_errors	NM_032494.2	genbank	human	validated	54_36p	silent	SNP	0.000	A
TENM2	57451	genome.wustl.edu	37	5	167689115	167689115	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr5:167689115G>T	ENST00000518659.1	+	29	7664	c.7625G>T	c.(7624-7626)gGa>gTa	p.G2542V	TENM2_ENST00000403607.2_Missense_Mutation_p.G2366V|TENM2_ENST00000545108.1_Missense_Mutation_p.G2541V|TENM2_ENST00000519204.1_Missense_Mutation_p.G2421V|TENM2_ENST00000520394.1_Missense_Mutation_p.G2303V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2542					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G2375V(1)									GCTCTGGAAGGACAGGTCATT	0.498																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											52.0	51.0	52.0					5																	167689115		1985	4156	6141	167621693	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7625G>T	5.37:g.167689115G>T	ENSP00000429430:p.Gly2542Val	Somatic	1844	2.84	54		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	167621693	969	36.29	553	Q9ULU2	Missense_Mutation	SNP	HMMPfam_NHL,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_RHS_repeat,superfamily_Carboxypeptidase regulatory domain,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Ten_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_EGF/Laminin	p.G2541V	ENST00000518659.1	37	c.7622		5	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898605	0.72639	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89270	-2.02;-2.01;-2.12;-2.47;-2.49	5.42	5.42	0.78866	.	0.094317	0.64402	D	0.000001	D	0.92227	0.7535	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.996;0.984;1.0	D;P;D	0.87578	0.931;0.737;0.998	D	0.89787	0.3965	10	0.26408	T	0.33	.	19.5868	0.95493	0.0:0.0:1.0:0.0	.	2541;2542;2303	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	2542;2541;2421;2303;2366	ENSP00000429430:G2542V;ENSP00000438635:G2541V;ENSP00000428964:G2421V;ENSP00000427874:G2303V;ENSP00000384905:G2366V	ENSP00000384905:G2366V	G	+	2	0	ODZ2	167621693	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.809000	0.99208	2.694000	0.91930	0.655000	0.94253	GGA	-	NULL		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167621693	+1	no_errors	ENST00000388903	ensembl	human	known	54_36p	missense	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	53989598	53989598	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr6:53989598G>A	ENST00000274897.5	+	3	660	c.547G>A	c.(547-549)Gat>Aat	p.D183N	MLIP_ENST00000509997.1_Missense_Mutation_p.D131N|MLIP_ENST00000502396.1_Missense_Mutation_p.D194N|MLIP_ENST00000514921.1_Missense_Mutation_p.D183N|MLIP_ENST00000370876.2_Missense_Mutation_p.D121N|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.D177N|MLIP_ENST00000370877.2_Missense_Mutation_p.D131N	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	183						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											69.0	61.0	64.0					6																	53989598		2203	4300	6503	54097557	SO:0001583	missense	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.547G>A	6.37:g.53989598G>A	ENSP00000274897:p.Asp183Asn	Somatic	1236	1.04	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	54097557	1051	34.48	553	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.D183N	ENST00000274897.5	37	c.547	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182837	0.38511	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.68	2.73	0.32206	.	0.357777	0.28940	N	0.013658	T	0.38427	0.1040	M	0.68952	2.095	0.09310	N	1	B;B;P;D;B	0.71674	0.008;0.027;0.607;0.998;0.021	B;B;B;D;B	0.66351	0.01;0.04;0.187;0.943;0.013	T	0.23619	-1.0183	9	.	.	.	-0.1376	5.1448	0.14979	0.1991:0.1659:0.635:0.0	.	194;194;121;183;183	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	N	183;183;131;131;121;65;65;142;194;177;65;184	ENSP00000274897:D183N;ENSP00000425142:D183N;ENSP00000359914:D131N;ENSP00000427584:D131N;ENSP00000359913:D121N;ENSP00000411917:D65N;ENSP00000427057:D65N;ENSP00000426830:D142N;ENSP00000426290:D194N;ENSP00000351019:D177N;ENSP00000421444:D184N	.	D	+	1	0	MLIP	54097557	0.124000	0.22315	0.007000	0.13788	0.556000	0.35491	1.664000	0.37439	0.242000	0.21303	0.650000	0.86243	GAT	-	NULL		0.542	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf142	protein_coding	OTTHUMT00000040979.3	G	NM_138569		54097557	+1	no_errors	NM_138569.2	genbank	human	validated	54_36p	missense	SNP	0.239	A
ARHGAP39	80728	genome.wustl.edu	37	8	145772894	145772894	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr8:145772894G>C	ENST00000276826.5	-	4	1777	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q526E|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q526E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	526					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.Q526E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CACGGGGGCTGTTCCTCGGCC	0.726																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											4.0	5.0	5.0					8																	145772894		1975	3984	5959	145743702	SO:0001583	missense	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1576C>G	8.37:g.145772894G>C	ENSP00000276826:p.Gln526Glu	Somatic	176	2.22	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	145743702	149	28.37	59	B4E1I1	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain,superfamily_GTPase activation domain GAP	p.Q526E	ENST00000276826.5	37	c.1576		8	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040988	0.08196	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.67865	-0.29;-0.03;-0.29	5.29	4.4	0.53042	.	0.449602	0.23666	N	0.045779	T	0.43986	0.1272	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	10	0.23891	T	0.37	-15.9192	11.0985	0.48160	0.0:0.0:0.665:0.335	.	526;526	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	E	526	ENSP00000276826:Q526E;ENSP00000366522:Q526E;ENSP00000445075:Q526E	ENSP00000276826:Q526E	Q	-	1	0	ARHGAP39	145743702	0.001000	0.12720	0.003000	0.11579	0.048000	0.14542	0.842000	0.27627	1.201000	0.43203	0.655000	0.94253	CAG	-	NULL		0.726	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	KIAA1688	protein_coding	OTTHUMT00000382509.1	G			145743702	-1	no_errors	NM_025251.1	genbank	human	validated	54_36p	missense	SNP	0.411	C
ZNF34	80778	genome.wustl.edu	37	8	146003442	146003442	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr8:146003442G>A	ENST00000343459.4	-	4	269	c.204C>T	c.(202-204)taC>taT	p.Y68Y	ZNF34_ENST00000429371.2_Silent_p.Y47Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y68Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTAGGTTCCCGTAGGTCTCCA	0.647																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	8											37.0	40.0	39.0					8																	146003442		2180	4290	6470	145974246	SO:0001819	synonymous_variant	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.204C>T	8.37:g.146003442G>A		Somatic	777	2.26	18		3	50.00	3	WXS	Illumina HiSeq	Phase_IV	145974246	565	36.16	320	D3DWN1|Q9BSZ0	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Y68	ENST00000343459.4	37	c.204	CCDS47945.1	8																																																																																			-	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)		0.647	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	protein_coding	OTTHUMT00000382936.1	G	NM_030580		145974246	-1	no_errors	NM_030580.3	genbank	human	validated	54_36p	silent	SNP	0.090	A
PNPLA7	375775	genome.wustl.edu	37	9	140358840	140358840	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr9:140358840G>A	ENST00000277531.4	-	26	3219	c.3033C>T	c.(3031-3033)gcC>gcT	p.A1011A	PNPLA7_ENST00000371457.1_Silent_p.A617A|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Silent_p.A1036A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1011	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.A1011A(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGTTGAAGCCGGCTCCGGAGA	0.607																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	9											174.0	169.0	171.0					9																	140358840		2203	4300	6503	139478661	SO:0001819	synonymous_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3033C>T	9.37:g.140358840G>A		Somatic	316	0.94	3		8	33.33	4	WXS	Illumina HiSeq	Phase_IV	139478661	139	36.94	82	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like,superfamily_cAMP-binding domain-like	p.A1036	ENST00000277531.4	37	c.3108	CCDS7045.1	9																																																																																			-	HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like		0.607	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	G	NM_152286		139478661	-1	no_errors	NM_001098537.1	genbank	human	validated	54_36p	silent	SNP	0.336	A
SOX5	6660	genome.wustl.edu	37	12	23689406	23689406	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr12:23689406G>A	ENST00000451604.2	-	14	2070	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	SOX5_ENST00000381381.2_Missense_Mutation_p.R536W|SOX5_ENST00000396007.2_Missense_Mutation_p.R271W|SOX5_ENST00000545921.1_Missense_Mutation_p.R647W|SOX5_ENST00000309359.1_Missense_Mutation_p.R644W|SOX5_ENST00000546136.1_Missense_Mutation_p.R644W|SOX5_ENST00000537393.1_Missense_Mutation_p.R622W|SOX5_ENST00000541536.1_Missense_Mutation_p.R536W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	657					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R657W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGTACTGCCGCATTTCCTGC	0.458																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											101.0	83.0	89.0					12																	23689406		2203	4300	6503	23580673	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1969C>T	12.37:g.23689406G>A	ENSP00000398273:p.Arg657Trp	Somatic	781	3.22	26		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	23580673	1133	24.52	368	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1	p.R657W	ENST00000451604.2	37	c.1969	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803548	0.70682	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.38	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.77486	2.375	0.34377	D	0.692736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.953;0.998;0.996	T	0.75988	-0.3123	10	0.72032	D	0.01	.	6.7286	0.23371	0.0917:0.0:0.5422:0.366	.	536;657;271	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	W	644;644;536;657;622;536;271;647	ENSP00000437487:R644W;ENSP00000308927:R644W;ENSP00000370788:R536W;ENSP00000398273:R657W;ENSP00000439832:R622W;ENSP00000441973:R536W;ENSP00000379328:R271W;ENSP00000443520:R647W	ENSP00000308927:R644W	R	-	1	2	SOX5	23580673	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.559000	0.45888	1.406000	0.46857	0.650000	0.86243	CGG	-	NULL		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	G	NM_006940		23580673	-1	no_errors	NM_006940.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SCARB1	949	genome.wustl.edu	37	12	125302136	125302136	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr12:125302136C>T	ENST00000415380.2	-	2	369	c.244G>A	c.(244-246)Gag>Aag	p.E82K	SCARB1_ENST00000339570.5_Missense_Mutation_p.E82K|SCARB1_ENST00000540495.1_Missense_Mutation_p.E45K|SCARB1_ENST00000261693.6_Missense_Mutation_p.E82K|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.E82K|SCARB1_ENST00000541205.1_Missense_Mutation_p.E41K|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.E28K			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	82					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E82K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGCGGCTTCTCGCCCTTCAGG	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											60.0	62.0	61.0					12																	125302136		2203	4300	6503	123868089	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.244G>A	12.37:g.125302136C>T	ENSP00000414979:p.Glu82Lys	Somatic	1377	0.79	11		14	17.65	3	WXS	Illumina HiSeq	Phase_IV	123868089	703	35.00	379	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	HMMPfam_CD36	p.E82K	ENST00000415380.2	37	c.244		12	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091504	0.20471	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.44	-2.47	0.06442	.	0.556583	0.19700	N	0.108052	T	0.62109	0.2401	L	0.60904	1.88	0.35443	D	0.795077	B;B;B;B;B;B	0.27166	0.126;0.126;0.126;0.126;0.17;0.103	B;B;B;B;B;B	0.26416	0.069;0.043;0.017;0.017;0.016;0.01	T	0.53732	-0.8397	10	0.42905	T	0.14	-5.1171	11.9769	0.53098	0.0:0.339:0.5395:0.1215	.	41;82;82;82;82;82	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	K	82;82;82;82;41;28;45;82	ENSP00000343795:E82K;ENSP00000414979:E82K;ENSP00000261693:E82K;ENSP00000442862:E82K;ENSP00000446107:E41K;ENSP00000444851:E28K;ENSP00000443286:E45K;ENSP00000443454:E82K	ENSP00000261693:E82K	E	-	1	0	SCARB1	123868089	0.005000	0.15991	0.052000	0.19188	0.035000	0.12851	1.165000	0.31822	-0.903000	0.03881	-0.314000	0.08810	GAG	-	HMMPfam_CD36		0.617	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	protein_coding	OTTHUMT00000400165.1	C	NM_005505		123868089	-1	no_errors	NM_005505.1	genbank	human	validated	54_36p	missense	SNP	0.995	T
NUBP2	10101	genome.wustl.edu	37	16	1836557	1836557	+	Silent	SNP	C	C	T	rs140358532		TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr16:1836557C>T	ENST00000262302.9	+	2	156	c.36C>T	c.(34-36)ggC>ggT	p.G12G	NUBP2_ENST00000565134.1_Silent_p.G12G|NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1			nucleotide binding protein 2									p.G12G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						ACCTGGCCGGCGTCAGGCACA	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17808	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16						C		0,4396		0,0,2198	64.0	60.0	62.0		36	-2.8	0.1	16	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUBP2	NM_012225.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		12/272	1836557	1,12995	2198	4300	6498	1776558	SO:0001819	synonymous_variant	0			AF118394	CCDS10445.1, CCDS66898.1	16p13.3	2011-05-19	2011-05-19		ENSG00000095906	ENSG00000095906			8042	protein-coding gene	gene with protein product		610779	"""nucleotide binding protein 2 (E.coli MinD like)"", ""nucleotide binding protein 2 (MinD homolog, E. coli)"""			10486206	Standard	XM_005255025		Approved	CFD1	uc002cmw.4	Q9Y5Y2	OTTHUMG00000128639	ENST00000262302.9:c.36C>T	16.37:g.1836557C>T		Somatic	205	2.38	5		13	45.83	11	WXS	Illumina HiSeq	Phase_IV	1776558	127	40.93	88		Silent	SNP	PatternScan_MRP,HMMPfam_ParA,superfamily_SSF52540	p.G12	ENST00000262302.9	37	c.36	CCDS10445.1	16																																																																																			-	superfamily_SSF52540		0.642	NUBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP2	protein_coding	OTTHUMT00000250510.1	C	NM_012225		1776558	+1	no_errors	NM_012225.2	genbank	human	validated	54_36p	silent	SNP	0.837	T
C16orf58	64755	genome.wustl.edu	37	16	31506945	31506945	+	Intron	SNP	T	T	C			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr16:31506945T>C	ENST00000327237.2	-	6	742				C16orf58_ENST00000430477.2_Intron|C16orf58_ENST00000567994.1_Intron|C16orf58_ENST00000570164.1_Intron			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58							integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GAGCTGGGAGTCCTGCGGTGA	0.582																																						dbGAP											0			16																																								31414446	SO:0001627	intron_variant	0			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.702+1224A>G	16.37:g.31506945T>C		Somatic	1471	1.47	22		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	31414446	620	35.85	347	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	NULL	p.T84A	ENST00000327237.2	37	c.250	CCDS10715.1	16																																																																																			-	NULL		0.582	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128371	protein_coding	OTTHUMT00000255629.2	T	NM_022744		31414446	-1	no_errors	XM_001725757.1	genbank	human	model	54_36p	missense	SNP	0.004	C
HYDIN	54768	genome.wustl.edu	37	16	70977790	70977790	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr16:70977790G>A	ENST00000393567.2	-	42	6744	c.6594C>T	c.(6592-6594)gtC>gtT	p.V2198V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2198					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V2197V(1)|p.V2149V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTCGCCTCCGACACTGGGAC	0.612																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	16											34.0	35.0	35.0					16																	70977790		2015	4180	6195	69535291	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6594C>T	16.37:g.70977790G>A		Somatic	948	1.14	11		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	69535291	1795	21.53	493	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V2197	ENST00000393567.2	37	c.6591	CCDS59269.1	16																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G			69535291	-1	no_errors	NM_032821.2	genbank	human	validated	54_36p	silent	SNP	0.016	A
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506255	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA
