#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND5	4540	genome.wustl.edu	37	M	13121	13121	+	Missense_Mutation	SNP	G	G	A			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chrM:13121G>A	ENST00000361567.2	+	1	785	c.785G>A	c.(784-786)cGc>cAc	p.R262H	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	262					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTTACTCATCCGCTTCCACCC	0.527																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.785G>A	M.37:g.13121G>A	ENSP00000354813:p.Arg262His		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.R262H	ENST00000361567.2	37	c.785		MT																																																																																			0	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.527	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	protein_coding		47	1	0	0.00	0	0	G	YP_003024036	0	0		13121	1	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	6	0	33.33	100.00	3	3	SNP	NULL	A
ZMYM3	9203	genome.wustl.edu	37	X	70468142	70468142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chrX:70468142G>T	ENST00000353904.2	-	11	2032	c.1845C>A	c.(1843-1845)tgC>tgA	p.C615*	ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.C617*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.C617*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.C615*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.C615*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	615					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AATCACGGCAGCAGAACTGGA	0.582																																							0											0													50.0	38.0	42.0					X																	70468142		2203	4300	6503	SO:0001587	stop_gained	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1845C>A	X.37:g.70468142G>T	ENSP00000343909:p.Cys615*		D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.C617*	ENST00000353904.2	37	c.1851	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	43	9.833799	0.99275	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	.	.	.	4.8	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.593	12.6533	0.56774	0.0969:0.0:0.9031:0.0	.	.	.	.	X	615;615;615;617;617	.	ENSP00000322845:C615X	C	-	3	2	ZMYM3	70384867	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.529000	0.45632	2.221000	0.72209	0.429000	0.28392	TGC	0	pfam_Znf_MYM,smart_TRASH_dom		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	26	103	0	0.00	0	0	G	NM_201599	0	0		70468142	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	nonsense	8	62	55.56	38.24	10	39	SNP	1	T
FRAS1	80144	genome.wustl.edu	37	4	79188536	79188536	+	Missense_Mutation	SNP	G	G	C			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr4:79188536G>C	ENST00000325942.6	+	9	1371	c.931G>C	c.(931-933)Ggc>Cgc	p.G311R	FRAS1_ENST00000264895.6_Missense_Mutation_p.G311R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G311R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	311	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTGATCATGGCCAAGTGAC	0.557																																							0											0													82.0	87.0	85.0					4																	79188536		2138	4234	6372	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.931G>C	4.37:g.79188536G>C	ENSP00000326330:p.Gly311Arg		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.G311R	ENST00000325942.6	37	c.931	CCDS54772.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.35|17.35|17.35	3.367804|3.367804|3.367804	0.61513|0.61513|0.61513	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000502446|ENST00000508900	T;T;T|.|.	0.73363|.|.	-0.74;-0.74;-0.74|.|.	5.19|5.19|5.19	5.19|5.19|5.19	0.71726|0.71726|0.71726	von Willebrand factor, type C (4);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.87018|0.87018|0.87018	0.6073|0.6073|0.6073	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0;1.0|.|.	D|D|D	0.90300|0.90300|0.90300	0.4329|0.4329|0.4329	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.1001|19.1001|19.1001	0.93270|0.93270|0.93270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	311;311;311;311|.|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.|.	.;FRAS1_HUMAN;.;.|.|.	R|I|S	311;311;311;51|239|153	ENSP00000326330:G311R;ENSP00000264895:G311R;ENSP00000264899:G311R|.|.	ENSP00000264895:G311R|.|.	G|M|W	+|+|+	1|3|2	0|0|0	FRAS1|FRAS1|FRAS1	79407560|79407560|79407560	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.955000|0.955000|0.955000	0.39395|0.39395|0.39395	0.093000|0.093000|0.093000	0.18481|0.18481|0.18481	6.960000|6.960000|6.960000	0.76036|0.76036|0.76036	2.565000|2.565000|2.565000	0.86533|0.86533|0.86533	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|ATG|TGG	0	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.557	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	65	163	0	0.00	0	0	G		0	0		79188536	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	53	117	20.9	22.52	14	34	SNP	1	C
ACN9	57001	genome.wustl.edu	37	7	96747041	96747041	+	Silent	SNP	G	G	A	rs566561181		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr7:96747041G>A	ENST00000360382.4	+	1	7	c.6G>A	c.(4-6)ccG>ccA	p.P2P	ACN9_ENST00000432641.2_Silent_p.P2P					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					GCGCTATGCCGGGGCGGCACG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15849	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													59.0	62.0	61.0					7																	96747041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.6G>A	7.37:g.96747041G>A				Silent	SNP	pfam_Complex1_LYR	p.P2	ENST00000360382.4	37	c.6		7																																																																																			0	NULL		0.652	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	ACN9	protein_coding	OTTHUMT00000333686.3	28	130	0	0.00	0	0	G	NM_020186	rs566561181	G->A		96747041	1	no_errors	ENST00000432641	ensembl	human	known	74_37	silent	33	118	23.26	24.84	10	39	SNP	0.082	A
STAU2	27067	genome.wustl.edu	37	8	74333642	74333642	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr8:74333642C>T	ENST00000524300.1	-	15	2028	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T	STAU2_ENST00000521210.1_Missense_Mutation_p.A494T|STAU2_ENST00000522695.1_Missense_Mutation_p.A528T|STAU2-AS1_ENST00000517604.1_lincRNA|STAU2_ENST00000523558.1_Missense_Mutation_p.A388T	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	560	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CAGTCCTGAGCGATGGAGCCC	0.537																																							0											0													109.0	99.0	102.0					8																	74333642		692	1591	2283	SO:0001583	missense	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1678G>A	8.37:g.74333642C>T	ENSP00000428756:p.Ala560Thr		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A560T	ENST00000524300.1	37	c.1678	CCDS55247.1	8	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506456	0.26949	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.36	1.5	0.22942	.	0.756330	0.12581	N	0.456480	T	0.24198	0.0586	N	0.11560	0.145	0.80722	D	1	B;B;B;B	0.10296	0.002;0.0;0.003;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.05099	-1.0906	10	0.33141	T	0.24	-35.1699	4.6398	0.12543	0.127:0.6157:0.1224:0.135	.	494;388;528;560	E9PEI3;E7ER74;E9PH62;E9PF26	.;.;.;.	T	528;560;388;494	ENSP00000428456:A528T;ENSP00000428756:A560T;ENSP00000428741:A388T;ENSP00000429173:A494T	ENSP00000344030:A388T	A	-	1	0	STAU2	74496196	1.000000	0.71417	0.784000	0.31847	0.997000	0.91878	1.249000	0.32839	-0.012000	0.14223	0.650000	0.86243	GCT	0	NULL		0.537	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	protein_coding	OTTHUMT00000379000.2	45	209	0	0.48	0	1	C	NM_001164380	0	0		74333642	-1	no_errors	ENST00000524300	ensembl	human	known	74_37	missense	52	193	20	19.25	13	46	SNP	0.978	T
ANK3	288	genome.wustl.edu	37	10	61932688	61932688	+	Silent	SNP	C	C	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr10:61932688C>T	ENST00000280772.2	-	20	2543	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q	ANK3_ENST00000373827.2_Silent_p.Q778Q|ANK3_ENST00000503366.1_Silent_p.Q767Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	784					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCGTTGTTCTGAAGTAAGA	0.483																																							0											0													160.0	144.0	150.0					10																	61932688		2203	4300	6503	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2352G>A	10.37:g.61932688C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.Q784	ENST00000280772.2	37	c.2352	CCDS7258.1	10																																																																																			0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	50	185	0	0.00	0	0	C	NM_020987	0	0		61932688	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	46	172	14.81	12.24	8	24	SNP	1	T
HNRNPKP3	399881	genome.wustl.edu	37	11	43283299	43283299	+	RNA	SNP	A	A	G			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr11:43283299A>G	ENST00000511537.1	-	0	1636					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		CATGTGGCCTATTGTTACTCT	0.378																																							0											0																																												0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283299A>G				RNA	SNP	0	NULL	ENST00000511537.1	37	NULL		11																																																																																			0	0		0.378	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	pseudogene	OTTHUMT00000390385.1	17	171	0	0.00	0	0	A	NR_033868	0	0		43283299	-1	no_errors	ENST00000511537	ensembl	human	known	74_37	rna	13	180	31.58	13.40	6	28	SNP	0.003	G
ALG9	79796	genome.wustl.edu	37	11	111708233	111708233	+	Missense_Mutation	SNP	T	T	C			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr11:111708233T>C	ENST00000531154.1	-	12	1389	c.917A>G	c.(916-918)aAa>aGa	p.K306R	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.K299R	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	470					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ATACCACTCTTTTCCCACACA	0.443																																							0											0													117.0	118.0	117.0					11																	111708233		1875	4108	5983	SO:0001583	missense	0				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.917A>G	11.37:g.111708233T>C	ENSP00000435517:p.Lys306Arg		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.K306R	ENST00000531154.1	37	c.917	CCDS41714.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.332183|5.332183	0.95733|0.95733	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000532425|ENST00000531154;ENST00000398006;ENST00000428306	T|T;T	0.75050|0.75260	-0.9|-0.92;-0.92	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.079824|0.079824	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.83626|0.83626	0.5295|0.5295	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.996	.|D;D;D;D	.|0.83275	.|0.996;0.922;0.995;0.953	T|T	0.81656|0.81656	-0.0834|-0.0834	8|10	0.72032|0.32370	D|T	0.01|0.25	-16.6993|-16.6993	16.5764|16.5764	0.84681|0.84681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|299;477;703;470	.|B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.|.;.;.;ALG9_HUMAN	E|R	55|306;299;703	ENSP00000432442:K55E|ENSP00000435517:K306R;ENSP00000381090:K299R	ENSP00000432442:K55E|ENSP00000381090:K299R	K|K	-|-	1|2	0|0	ALG9|ALG9	111213443|111213443	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.960000|0.960000	0.62799|0.62799	7.997000|7.997000	0.88414|0.88414	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAG|AAA	0	pfam_GPI_mannosylTrfase		0.443	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	protein_coding	OTTHUMT00000391485.1	60	190	1.64	0.00	1	0	T	NM_024740	0	0		111708233	-1	no_errors	ENST00000531154	ensembl	human	known	74_37	missense	75	163	25	24.54	25	53	SNP	1	C
XPO4	64328	genome.wustl.edu	37	13	21374437	21374437	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr13:21374437C>T	ENST00000255305.6	-	15	2076	c.2005G>A	c.(2005-2007)Gga>Aga	p.G669R	XPO4_ENST00000400602.2_Missense_Mutation_p.G669R			Q9C0E2	XPO4_HUMAN	exportin 4	669					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GTATCTGCTCCGAACGCTGTA	0.388																																							0											0													121.0	111.0	114.0					13																	21374437		1922	4147	6069	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2005G>A	13.37:g.21374437C>T	ENSP00000255305:p.Gly669Arg		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G669R	ENST00000255305.6	37	c.2005	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.166556	0.94768	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.55234	0.53;0.53	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73154	-0.4072	10	0.46703	T	0.11	-7.898	19.8505	0.96738	0.0:1.0:0.0:0.0	.	669	Q9C0E2	XPO4_HUMAN	R	669;539;669	ENSP00000383444:G669R;ENSP00000255305:G669R	ENSP00000255305:G669R	G	-	1	0	XPO4	20272437	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.190000	0.77755	2.688000	0.91661	0.655000	0.94253	GGA	0	superfamily_ARM-type_fold		0.388	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	protein_coding	OTTHUMT00000044096.1	44	241	0	0.00	0	0	C	NM_022459	0	0		21374437	-1	no_errors	ENST00000255305	ensembl	human	known	74_37	missense	35	181	27.08	17.35	13	38	SNP	1	T
TIMM9	26520	genome.wustl.edu	37	14	58893879	58893879	+	5'UTR	SNP	A	A	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr14:58893879A>T	ENST00000395159.2	-	0	304				KIAA0586_ENST00000556134.1_5'Flank|TIMM9_ENST00000556007.2_5'Flank|TIMM9_ENST00000216463.4_5'UTR|KIAA0586_ENST00000354386.6_5'Flank|KIAA0586_ENST00000261244.5_5'Flank|KIAA0586_ENST00000423743.3_5'Flank|TIMM9_ENST00000555404.1_5'UTR|TIMM9_ENST00000555593.1_Intron|RP11-517O13.1_ENST00000556734.1_RNA	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						CGCGGCCGCCAGATGGGAAAG	0.552																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.-222T>A	14.37:g.58893879A>T			B2R584	RNA	SNP	0	NULL	ENST00000395159.2	37	NULL	CCDS9735.1	14																																																																																			0	0		0.552	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM9	protein_coding	OTTHUMT00000276936.2	59	163	1.67	0.00	1	0	A		0	0		58893879	-1	no_errors	ENST00000216463	ensembl	human	known	74_37	rna	77	140	26.67	23.78	28	44	SNP	0	T
PPP4R4	57718	genome.wustl.edu	37	14	94741717	94741717	+	Missense_Mutation	SNP	C	C	T	rs267604108		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr14:94741717C>T	ENST00000304338.3	+	24	2610	c.2456C>T	c.(2455-2457)tCa>tTa	p.S819L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	819					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCAGATGATTCATTCCGGACT	0.403																																							0											0													215.0	207.0	210.0					14																	94741717		2203	4300	6503	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2456C>T	14.37:g.94741717C>T	ENSP00000305924:p.Ser819Leu		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S819L	ENST00000304338.3	37	c.2456	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489960	0.64074	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	5.12	0.69794	.	0.428555	0.20672	N	0.087801	T	0.52256	0.1723	L	0.32530	0.975	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.45571	-0.9252	9	0.41790	T	0.15	-14.093	14.7102	0.69225	0.0:0.9313:0.0:0.0687	.	819	Q6NUP7	PP4R4_HUMAN	L	819	.	ENSP00000305924:S819L	S	+	2	0	PPP4R4	93811470	0.898000	0.30612	0.944000	0.38274	0.985000	0.73830	2.917000	0.48821	2.857000	0.98124	0.650000	0.86243	TCA	0	NULL		0.403	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	protein_coding	OTTHUMT00000413056.1	87	228	0	0.00	0	0	C	NM_058237	rs267604108	C->T		94741717	1	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	67	229	24.72	21.69	22	64	SNP	0.95	T
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		0	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652						152.0	112.0	126.0					17																	7577538		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248L	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	0	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	24	145	0	0.00	0	0	C	NM_000546	0	0		7577538	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	30	113	26.83	23.13	11	34	SNP	1	A
RBBP6	5930	genome.wustl.edu	37	16	24581490	24581496	+	Frame_Shift_Del	DEL	TTGAGTC	TTGAGTC	-			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	TTGAGTC	TTGAGTC	TTGAGTC	-	TTGAGTC	TTGAGTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr16:24581490_24581496delTTGAGTC	ENST00000319715.4	+	17	3911_3917	c.3479_3485delTTGAGTC	c.(3478-3486)tttgagtctfs	p.FES1160fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.FES1126fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1160					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATAAAGATTTTGAGTCTTCTTCAATG	0.353																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3479_3485delTTGAGTC	16.37:g.24581490_24581496delTTGAGTC	ENSP00000317872:p.Phe1160fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.E1161fs	ENST00000319715.4	37	c.3479_3485	CCDS10621.1	16																																																																																			0	NULL		0.353	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	44	202	0	0.00	0	0	TTGAGTC	NM_006910	0	0		24581496	1	no_errors	ENST00000319715	ensembl	human	known	74_37	frame_shift_del	24	166	14.29	4.05	4	7	DEL	1.000:0.999:1.000:0.985:0.084:0.080:0.053	0
MT-CO1	4512	genome.wustl.edu	37	M	6872	6872	+	Nonstop_Mutation	SNP	A	A	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chrM:6872A>T	ENST00000361624.2	+	1	969	c.969A>T	c.(967-969)tgA>tgT	p.*323C	MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	323					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GTATTTAGCTGACTCGCCACA	0.473																																							0											0																																										SO:0001578	stop_lost	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.969A>T	M.37:g.6872A>T	Exception_encountered		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.W323C	ENST00000361624.2	37	c.969		MT																																																																																			0	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		78	6	0	0.00	0	0	A	YP_003024028	0	0		6872	1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	10	2	37.5	0.00	6	0	SNP	NULL	T
LOC101243545	101243545	genome.wustl.edu	37	3	161146937	161146937	+	lincRNA	SNP	G	G	A			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr3:161146937G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AATTTTGTTGGCAACATCCAA	0.378																																							0											0													71.0	81.0	77.0					3																	161146937		1442	2583	4025			0																															3.37:g.161146937G>A				RNA	SNP	0	NULL	ENST00000473595.1	37	NULL		3																																																																																			0	0		0.378	RP11-3P17.4-001	KNOWN	basic	lincRNA	ENSG00000269888	lincRNA	OTTHUMT00000353185.1	29	0	0	0.00	0	0	G		0	0		161146937	1	no_errors	ENST00000602890	ensembl	human	known	74_37	rna	29	0	12.12	0.00	4	0	SNP	1	A
TMEM229A	730130	genome.wustl.edu	37	7	123672482	123672482	+	Silent	SNP	C	C	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr7:123672482C>T	ENST00000455783.1	-	1	1041	c.576G>A	c.(574-576)caG>caA	p.Q192Q	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	192						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						gctgctgctgctgttgctgct	0.726																																							0											0													2.0	4.0	3.0					7																	123672482		430	1171	1601	SO:0001819	synonymous_variant	0			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.576G>A	7.37:g.123672482C>T			A4D0X6	Silent	SNP	NULL	p.Q192	ENST00000455783.1	37	c.576	CCDS47694.1	7																																																																																			0	NULL		0.726	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229A	protein_coding	OTTHUMT00000336960.3	26	5	0	0.00	0	0	C	NM_001136002	0	0		123672482	-1	no_errors	ENST00000455783	ensembl	human	known	74_37	silent	20	3	16.67	0.00	4	0	SNP	0.051	T
NPIPA2	642799	genome.wustl.edu	37	16	14859247	14859247	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr16:14859247C>T	ENST00000529166.1	+	8	1087	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	NPIPA2_ENST00000553201.1_Missense_Mutation_p.R344W			E9PIF3	NPIA2_HUMAN	nuclear pore complex interacting protein family, member A2	363																	CCACCCTCAGCGGATGATAAT	0.418																																							0											0																																										SO:0001583	missense	0				CCDS59263.1	16p13.11	2013-06-11			ENSG00000254852	ENSG00000254852			41979	protein-coding gene	gene with protein product							Standard	NM_001277324		Approved			E9PIF3	OTTHUMG00000166264	ENST00000529166.1:c.1087C>T	16.37:g.14859247C>T	ENSP00000432029:p.Arg363Trp			Missense_Mutation	SNP	NULL	p.R363W	ENST00000529166.1	37	c.1087		16	.	.	.	.	.	.	.	.	.	.	.	9.766	1.171381	0.21621	.	.	ENSG00000254852	ENST00000529166;ENST00000553201	T;T	0.52526	1.97;0.66	.	.	.	.	.	.	.	.	T	0.36608	0.0973	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	P	0.49637	0.617	T	0.23119	-1.0197	7	0.87932	D	0	.	.	.	.	.	363	E9PJI5	.	W	363;344	ENSP00000432029:R363W;ENSP00000446882:R344W	ENSP00000432029:R363W	R	+	1	2	RP11-719K4.2	14766748	.	.	0.064000	0.19789	0.064000	0.16182	.	.	0.073000	0.16731	0.074000	0.15403	CGG	0	NULL		0.418	NPIPA2-002	NOVEL	basic|appris_candidate_longest	protein_coding	NPIPA2	protein_coding	OTTHUMT00000389062.1	42	0	2.33	0.00	1	0	C		0	0		14859247	1	no_errors	ENST00000529166	ensembl	human	novel	74_37	missense	62	0	8.82	0.00	6	0	SNP	0.065	T
FAM230A	653203	genome.wustl.edu	37	22	20708961	20708961	+	Silent	SNP	C	C	T	rs538372579|rs12172491|rs67607046	byFrequency	TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr22:20708961C>T	ENST00000434783.3	+	8	877	c.693C>T	c.(691-693)aaC>aaT	p.N231N	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		GCGTCGCTAACGAGGTCGCCG	0.652																																							0											0																																										SO:0001819	synonymous_variant	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.693C>T	22.37:g.20708961C>T				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.N231	ENST00000434783.3	37	c.693		22																																																																																			0	superfamily_Kinase-like_dom		0.652	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	protein_coding	OTTHUMT00000319609.4	24	8	0	0.00	0	0	C		rs12172491	C->T		20708961	1	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	17	9	26.09	0.00	6	0	SNP	0.111	T
