#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
TM2D2	83877	genome.wustl.edu	37	8	38851120	38851120	+	Silent	SNP	A	A	G			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr8:38851120A>G	ENST00000456397.2	-	3	468	c.375T>C	c.(373-375)gaT>gaC	p.D125D	TM2D2_ENST00000397070.2_Silent_p.D82D|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Silent_p.D82D|TM2D2_ENST00000412303.1_Silent_p.D82D	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACTCAATTCCATCTAAGGCAT	0.463																																							0											0													93.0	82.0	86.0					8																	38851120		2203	4300	6503	SO:0001819	synonymous_variant	0			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.375T>C	8.37:g.38851120A>G			B2RBK4|D3DSX8|Q8N0X9	Silent	SNP	pfam_TM2	p.D125	ENST00000456397.2	37	c.375	CCDS6111.1	8																																																																																			0	NULL		0.463	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM2D2	protein_coding	OTTHUMT00000377280.1	55	211	0	0.00	0	0	A	NM_031940	0	0		38851120	-1	no_errors	ENST00000456397	ensembl	human	known	74_37	silent	44	198	8.33	4.35	4	9	SNP	0.992	G
MT-ND6	4541	genome.wustl.edu	37	M	14154	14154	+	Missense_Mutation	SNP	T	T	C			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chrM:14154T>C	ENST00000361681.2	-	1	519	c.520A>G	c.(520-522)Aat>Gat	p.N174D	MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	174					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACATAACCTATTCCCCCGAGC	0.413																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.520A>G	M.37:g.14154T>C	ENSP00000354665:p.Asn174Asp		Q34774|Q8HG30	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.N174D	ENST00000361681.2	37	c.520		MT																																																																																			0	NULL		0.413	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	protein_coding		128	0	0	0.00	0	0	T	YP_003024037	0	0		14154	-1	no_errors	ENST00000361681	ensembl	human	known	74_37	missense	14	2	30	0.00	6	0	SNP	NULL	C
PRAMEF2	65122	genome.wustl.edu	37	1	12918869	12918869	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr1:12918869G>A	ENST00000240189.2	+	2	92	c.5G>A	c.(4-6)aGc>aAc	p.S2N		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	2					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGGATGAGCATCCAGGCC	0.552																																							0											0													76.0	85.0	82.0					1																	12918869		2201	4296	6497	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.5G>A	1.37:g.12918869G>A	ENSP00000240189:p.Ser2Asn			Missense_Mutation	SNP	NULL	p.S2N	ENST00000240189.2	37	c.5	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	g	7.634	0.679528	0.14907	.	.	ENSG00000120952	ENST00000240189	T	0.10573	2.86	0.842	0.842	0.18927	.	0.571295	0.18063	N	0.152892	T	0.13329	0.0323	L	0.45744	1.44	0.09310	N	1	B	0.21071	0.051	B	0.41619	0.361	T	0.34576	-0.9823	10	0.38643	T	0.18	.	5.0452	0.14480	0.0:0.0:1.0:0.0	.	2	O60811	PRAM2_HUMAN	N	2	ENSP00000240189:S2N	ENSP00000240189:S2N	S	+	2	0	PRAMEF2	12841456	0.007000	0.16637	0.013000	0.15412	0.004000	0.04260	-0.196000	0.09532	0.759000	0.33084	0.194000	0.17425	AGC	0	NULL		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	50	7	0	0.00	0	0	G	NM_023014	0	0		12918869	1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	31	7	13.89	0.00	5	0	SNP	0.015	A
CROCC	9696	genome.wustl.edu	37	1	17281901	17281901	+	Missense_Mutation	SNP	G	G	T	rs531090814		TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr1:17281901G>T	ENST00000375541.5	+	24	3629	c.3560G>T	c.(3559-3561)aGc>aTc	p.S1187I		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGCGTGAGAGCCAGGAGGGC	0.711																																							0											0													11.0	14.0	13.0					1																	17281901		2192	4285	6477	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3560G>T	1.37:g.17281901G>T	ENSP00000364691:p.Ser1187Ile			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.S1187I	ENST00000375541.5	37	c.3560	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	5.576	0.291004	0.10567	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.49139	0.79	4.27	1.19	0.21007	.	.	.	.	.	T	0.31104	0.0786	L	0.29908	0.895	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.11329	0.006;0.006	T	0.23762	-1.0179	9	0.17369	T	0.5	.	8.152	0.31145	0.0884:0.2993:0.6123:0.0	.	490;1187	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	I	1187;1068	ENSP00000364691:S1187I	ENSP00000364691:S1187I	S	+	2	0	CROCC	17154488	0.807000	0.29009	0.087000	0.20705	0.171000	0.22731	2.198000	0.42705	0.145000	0.18977	-0.300000	0.09419	AGC	0	NULL		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	24	6	0	0.00	0	0	G	NM_014675	0	0		17281901	1	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	12	0	20	0.00	3	0	SNP	0.074	T
POTEI	653269	genome.wustl.edu	37	2	131223286	131223286	+	Missense_Mutation	SNP	T	T	A			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr2:131223286T>A	ENST00000451531.2	-	14	2268	c.1838A>T	c.(1837-1839)cAc>cTc	p.H613L		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	613					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						AATCTCATCGTGTAATATTCC	0.303																																							0											0																																										SO:0001583	missense	0				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.1838A>T	2.37:g.131223286T>A	ENSP00000392718:p.His613Leu			Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.H613L	ENST00000451531.2	37	c.1838	CCDS59431.1	2	.	.	.	.	.	.	.	.	.	.	.	6.601	0.479255	0.12581	.	.	ENSG00000196834	ENST00000451531	T	0.75938	-0.98	0.993	0.993	0.19825	.	.	.	.	.	T	0.52533	0.1740	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.50074	-0.8870	7	0.87932	D	0	.	4.2424	0.10654	0.0:0.0:0.0:1.0	.	.	.	.	L	613	ENSP00000392718:H613L	ENSP00000392718:H613L	H	-	2	0	POTEI	130939756	0.972000	0.33761	0.019000	0.16419	0.006000	0.05464	2.418000	0.44662	0.705000	0.31890	0.155000	0.16302	CAC	0	NULL		0.303	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEI	protein_coding	OTTHUMT00000333222.2	16	0	0	0.00	0	0	T	XM_928585	0	0		131223286	-1	no_errors	ENST00000451531	ensembl	human	novel	74_37	missense	9	0	40	0.00	6	0	SNP	0.028	A
FAM230B	642633	genome.wustl.edu	37	22	21538465	21538465	+	RNA	SNP	G	G	T			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr22:21538465G>T	ENST00000451257.1	+	0	1451									family with sequence similarity 230, member B (non-protein coding)																		CAACGAGGACGCCGCCCACGG	0.721																																							0											0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538465G>T				RNA	SNP	0	NULL	ENST00000451257.1	37	NULL		22																																																																																			0	0		0.721	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	processed_transcript	OTTHUMT00000320063.1	27	2	3.57	0.00	1	0	G	NR_108107	0	0		21538465	1	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	21	2	30	0.00	9	0	SNP	0.028	T
INO80B	83444	genome.wustl.edu	37	2	74684681	74684681	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr2:74684681delG	ENST00000233331.7	+	5	855	c.761delG	c.(760-762)cggfs	p.R254fs	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_3'UTR|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	254					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						cggggaggccgggggggcgca	0.736																																							0											0										12,2074		2,8,1033	2.0	2.0	2.0			2.2	1.0	2		2	29,4941		2,25,2458	no	frameshift	INO80B	NM_031288.3		4,33,3491	A1A1,A1R,RR		0.5835,0.5753,0.5811			74684681	41,7015	1343	3004	4347	SO:0001589	frameshift_variant	0			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.761delG	2.37:g.74684681delG	ENSP00000233331:p.Arg254fs			Frame_Shift_Del	DEL	pfam_INO80B_C,pfam_Znf_HIT	p.G256fs	ENST00000233331.7	37	c.761	CCDS1942.2	2																																																																																			0	pfam_INO80B_C		0.736	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	protein_coding	OTTHUMT00000252223.2	10	6	0	0.00	0	0	G	NM_031288	0	0		74684681	1	no_errors	ENST00000452361	ensembl	human	known	74_37	frame_shift_del	4	7	33.33	0.00	2	0	DEL	1	0
DUSP8	1850	genome.wustl.edu	37	11	1577829	1577829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr11:1577829delC	ENST00000397374.3	-	7	1924	c.1797delG	c.(1795-1797)gggfs	p.G599fs	DUSP8_ENST00000528778.1_5'Flank|DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G599fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	599					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCGCGCGCGCCCCTCCACCA	0.746																																							0											0													2.0	3.0	3.0					11																	1577829		1586	3192	4778	SO:0001589	frameshift_variant	0				CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1797delG	11.37:g.1577829delC	ENSP00000380530:p.Gly599fs		Q86SS8	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.R600fs	ENST00000397374.3	37	c.1797	CCDS7724.1	11																																																																																			0	NULL		0.746	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP8	protein_coding	OTTHUMT00000257178.3	71	9	0	0.00	0	0	C	NM_004420	0	0		1577829	-1	no_errors	ENST00000331588	ensembl	human	known	74_37	frame_shift_del	24	9	7.69	0.00	2	0	DEL	0.998	0
