#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
SCN1A	6323	genome.wustl.edu	37	2	166903315	166903315	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr2:166903315T>C	ENST00000303395.4	-	9	1341	c.1342A>G	c.(1342-1344)Att>Gtt	p.I448V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I448V|SCN1A_ENST00000409050.1_Missense_Mutation_p.I448V|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I448V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	448					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGTTCAATCATCTGCTGA	0.458																																						dbGAP											0			2											119.0	105.0	110.0					2																	166903315		2203	4300	6503	166611561	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1342A>G	2.37:g.166903315T>C	ENSP00000303540:p.Ile448Val	Somatic	231	1.28	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	166611561	85	33.33	43	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324	p.I448V	ENST00000303395.4	37	c.1342	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336140	0.41398	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.28	5.31	2.41	0.29592	.	0.112301	0.39985	N	0.001204	T	0.45337	0.1337	N	0.03608	-0.345	0.31708	N	0.639857	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.47100	-0.9143	10	0.66056	D	0.02	.	9.6458	0.39865	0.0674:0.0:0.6722:0.2604	.	448;448;448	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	448	ENSP00000407030:I448V;ENSP00000303540:I448V;ENSP00000364554:I448V;ENSP00000386312:I448V	ENSP00000303540:I448V	I	-	1	0	SCN1A	166611561	1.000000	0.71417	0.889000	0.34880	0.890000	0.51754	2.762000	0.47597	0.270000	0.21984	-0.213000	0.12676	ATT	-	NULL		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	T	NM_006920		166611561	-1	no_errors	NM_006920.4	genbank	human	validated	54_36p	missense	SNP	1.000	C
DOCK10	55619	genome.wustl.edu	37	2	225717836	225717836	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr2:225717836C>T	ENST00000258390.7	-	17	1959	c.1892G>A	c.(1891-1893)tGt>tAt	p.C631Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.C625Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	631					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGATGTTACACAATCTTAAAA	0.328																																						dbGAP											0			2											69.0	63.0	65.0					2																	225717836		1825	4079	5904	225426080	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1892G>A	2.37:g.225717836C>T	ENSP00000258390:p.Cys631Tyr	Somatic	253	0.00	0		26	23.53	8	WXS	Illumina HiSeq	Phase_IV	225426080	181	30.34	81	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto,superfamily_PH domain-like	p.C631Y	ENST00000258390.7	37	c.1892	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150821	0.57151	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.22336	1.96;1.96	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.80422	2.495	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.972	T	0.39375	-0.9617	10	0.13108	T	0.6	.	19.5371	0.95257	0.0:1.0:0.0:0.0	.	631;625	Q96BY6;B3FL70	DOC10_HUMAN;.	Y	625;631	ENSP00000386694:C625Y;ENSP00000258390:C631Y	ENSP00000258390:C631Y	C	-	2	0	DOCK10	225426080	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.445000	0.80570	2.695000	0.91970	0.453000	0.30009	TGT	-	NULL		0.328	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	C			225426080	-1	no_errors	NM_014689.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
COL25A1	84570	genome.wustl.edu	37	4	109820309	109820309	+	Splice_Site	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr4:109820309C>T	ENST00000399132.1	-	15	1392		c.e15+1		COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCATTCTTACCTTTTCACCT	0.378																																						dbGAP											0			4											149.0	161.0	157.0					4																	109820309		1906	4104	6010	110039758	SO:0001630	splice_region_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.861+1G>A	4.37:g.109820309C>T		Somatic	288	0.35	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	110039758	137	28.72	56		Splice_Site	SNP	-	e14+1	ENST00000399132.1	37	c.861+1	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943428	0.73672	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3655	0.83319	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL25A1	110039758	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	4.183000	0.58317	2.696000	0.92011	0.655000	0.94253	.	-	-		0.378	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	protein_coding	OTTHUMT00000315938.2	C	NM_032518	Intron	110039758	-1	no_errors	NM_198721.2	genbank	human	validated	54_36p	splice_site	SNP	0.998	T
LOC349160	349160	genome.wustl.edu	37	7	136849187	136849187	+	RNA	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr7:136849187C>T	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA																							CCTGATGCCCCGAAAGGCTGT	0.642																																						dbGAP											0			7																																								136499727			0																															7.37:g.136849187C>T		Somatic	56	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	136499727	36	40.32	25		Missense_Mutation	SNP	HMMPfam_Ribosomal_L18e,superfamily_Ribosomal proteins L15p and L18e	p.P354L	ENST00000439694.1	37	c.1061		7																																																																																			-	HMMPfam_Ribosomal_L18e,superfamily_Ribosomal proteins L15p and L18e		0.642	hsa-mir-490.1-001	KNOWN	basic	antisense	LOC100128744	antisense	OTTHUMT00000341008.1	C			136499727	+1	no_errors	XM_001718911.1	genbank	human	model	54_36p	missense	SNP	0.999	T
CSMD3	114788	genome.wustl.edu	37	8	113678593	113678593	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr8:113678593C>T	ENST00000297405.5	-	17	2973	c.2729G>A	c.(2728-2730)gGa>gAa	p.G910E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G806E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G910E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G870E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	910	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G910E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTGGCCATCCTGGTGAGAG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											1	Substitution - Missense(1)	lung(1)	8											61.0	59.0	60.0					8																	113678593		2203	4300	6503	113747769	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2729G>A	8.37:g.113678593C>T	ENSP00000297405:p.Gly910Glu	Somatic	181	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	113747769	98	36.13	56	Q96PZ3	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain	p.G910E	ENST00000297405.5	37	c.2729	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.372562	0.95923	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	6.1	6.1	0.99115	CUB (5);	0.000000	0.64402	D	0.000001	T	0.77538	0.4145	M	0.71871	2.18	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76591	-0.2903	10	0.62326	D	0.03	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	806;910;870	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	870;910;250;806;910	ENSP00000345799:G870E;ENSP00000297405:G910E;ENSP00000341558:G250E;ENSP00000412263:G806E;ENSP00000343124:G910E	ENSP00000297405:G910E	G	-	2	0	CSMD3	113747769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.902000	0.99343	0.650000	0.86243	GGA	-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113747769	-1	no_errors	NM_198123.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
JMJD1C	221037	genome.wustl.edu	37	10	64967168	64967168	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr10:64967168A>G	ENST00000399262.2	-	10	4479	c.4261T>C	c.(4261-4263)Tca>Cca	p.S1421P	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1239P|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1202P|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1202P	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1421					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGGTATTTGATAAAGAGGAA	0.418																																						dbGAP											0			10											120.0	121.0	121.0					10																	64967168		1939	4137	6076	64637174	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4261T>C	10.37:g.64967168A>G	ENSP00000382204:p.Ser1421Pro	Somatic	164	0.00	0		40	40.30	27	WXS	Illumina HiSeq	Phase_IV	64637174	76	28.70	31	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like	p.S1421P	ENST00000399262.2	37	c.4261	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735928	0.49045	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56941	0.78;0.43;2.37;0.78	5.72	4.59	0.56863	.	0.324250	0.30244	N	0.010070	T	0.63581	0.2523	L	0.52364	1.645	0.52099	D	0.999947	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.64410	0.925;0.897;0.897	T	0.64694	-0.6347	10	0.66056	D	0.02	-5.7706	11.5593	0.50768	0.9303:0.0:0.0697:0.0	.	962;1421;1239	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	P	1421;1202;1202;1239	ENSP00000382204:S1421P;ENSP00000384990:S1202P;ENSP00000382195:S1202P;ENSP00000444682:S1239P	ENSP00000382195:S1202P	S	-	1	0	JMJD1C	64637174	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.469000	0.53093	1.001000	0.39076	0.482000	0.46254	TCA	-	NULL		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	protein_coding	OTTHUMT00000048249.2	A	NM_004241		64637174	-1	no_errors	NM_032776.2	genbank	human	validated	54_36p	missense	SNP	1.000	G
LRIT1	26103	genome.wustl.edu	37	10	85994070	85994070	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr10:85994070G>A	ENST00000372105.3	-	3	675	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	218	LRRCT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TTGGGGCCCAGCCATCCAAAA	0.532																																						dbGAP											0			10											87.0	89.0	88.0					10																	85994070		2203	4300	6503	85984050	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.654C>T	10.37:g.85994070G>A		Somatic	21	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	85984050	44	34.78	24	Q0QD41|Q9Y4N7	Silent	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058	p.G218	ENST00000372105.3	37	c.654	CCDS7373.1	10																																																																																			-	HMMSmart_LRRCT,superfamily_SSF52058		0.532	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85984050	-1	no_errors	NM_015613.2	genbank	human	validated	54_36p	silent	SNP	0.078	A
MICAL2	9645	genome.wustl.edu	37	11	12247813	12247813	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr11:12247813C>G	ENST00000256194.4	+	14	2072	c.1784C>G	c.(1783-1785)aCg>aGg	p.T595R	MICAL2_ENST00000537344.1_Missense_Mutation_p.T595R|MICAL2_ENST00000527546.1_Missense_Mutation_p.T595R|MICAL2_ENST00000342902.5_Missense_Mutation_p.T595R|MICAL2_ENST00000379612.3_Missense_Mutation_p.T595R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	595	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCAGTGACCACGGGCAAAGAG	0.547																																						dbGAP											0			11											135.0	123.0	127.0					11																	12247813		2201	4294	6495	12204389	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1784C>G	11.37:g.12247813C>G	ENSP00000256194:p.Thr595Arg	Somatic	215	0.00	0		28	36.36	16	WXS	Illumina HiSeq	Phase_IV	12204389	72	21.51	20	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.T595R	ENST00000256194.4	37	c.1784	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750482	0.89753	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71	5.28	5.28	0.74379	Calponin homology domain (5);	0.062767	0.64402	D	0.000008	D	0.96886	0.8983	M	0.74467	2.265	0.80722	D	1	P;B;B;B;B	0.36162	0.54;0.145;0.286;0.282;0.438	B;B;B;B;P	0.49665	0.281;0.172;0.409;0.396;0.618	D	0.97056	0.9767	10	0.59425	D	0.04	.	18.526	0.90973	0.0:1.0:0.0:0.0	.	595;595;595;595;595	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	R	595;128;595;595;595;595	ENSP00000441689:T595R;ENSP00000256194:T595R;ENSP00000433965:T595R;ENSP00000344894:T595R;ENSP00000368932:T595R	ENSP00000256194:T595R	T	+	2	0	MICAL2	12204389	1.000000	0.71417	0.968000	0.41197	0.895000	0.52256	7.818000	0.86416	2.466000	0.83321	0.563000	0.77884	ACG	-	HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain		0.547	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	protein_coding	OTTHUMT00000385993.1	C	NM_014632		12204389	+1	no_errors	NM_014632.2	genbank	human	provisional	54_36p	missense	SNP	0.995	G
KRT75	9119	genome.wustl.edu	37	12	52827852	52827852	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr12:52827852G>A	ENST00000252245.5	-	1	457	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	79	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CACTTCGGCAGCTGCTGCCAC	0.617																																						dbGAP											0			12											60.0	65.0	63.0					12																	52827852		2202	4298	6500	51114119	SO:0001819	synonymous_variant	0			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.237C>T	12.37:g.52827852G>A		Somatic	111	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	51114119	63	25.00	21	B4DQU4|Q9NSA9	Silent	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.S79	ENST00000252245.5	37	c.237	CCDS8827.1	12																																																																																			-	NULL		0.617	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	protein_coding	OTTHUMT00000404968.1	G	NM_004693		51114119	-1	no_errors	NM_004693.2	genbank	human	reviewed	54_36p	silent	SNP	0.002	A
MMP25	64386	genome.wustl.edu	37	16	3100421	3100421	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr16:3100421C>T	ENST00000336577.4	+	4	772	c.535C>T	c.(535-537)Cac>Tac	p.H179Y	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	190					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CCGCGCCTTCCACCAGGACAG	0.632																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	dbGAP											0			16											49.0	46.0	47.0					16																	3100421		2197	4300	6497	3040422	SO:0001583	missense	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.535C>T	16.37:g.3100421C>T	ENSP00000337816:p.His179Tyr	Somatic	122	0.81	1		10	23.08	3	WXS	Illumina HiSeq	Phase_IV	3040422	28	27.50	11	Q96F04|Q96TE2	Missense_Mutation	SNP	superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486	p.H179Y	ENST00000336577.4	37	c.535	CCDS10492.1	16	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587581	0.66105	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.27890	1.64	4.96	4.96	0.65561	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.51477	D	0.000089	T	0.69223	0.3087	H	0.97186	3.955	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81084	-0.1093	10	0.87932	D	0	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	103;179	O43923;Q9NPA2	.;MMP25_HUMAN	Y	179;106	ENSP00000337816:H179Y	ENSP00000324953:H106Y	H	+	1	0	MMP25	3040422	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.677000	0.84024	2.299000	0.77371	0.655000	0.94253	CAC	-	HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486		0.632	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	protein_coding	OTTHUMT00000437116.1	C	NM_022468		3040422	+1	no_errors	NM_022468.4	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
CDH16	1014	genome.wustl.edu	37	16	66945811	66945811	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr16:66945811C>T	ENST00000299752.4	-	13	1974	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CDH16_ENST00000568632.1_Missense_Mutation_p.R497Q|CDH16_ENST00000565796.1_Missense_Mutation_p.R594Q|CDH16_ENST00000570262.1_Missense_Mutation_p.R514Q|CDH16_ENST00000394055.3_Missense_Mutation_p.R594Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGAGGGTTCGGCTGATGGG	0.627																																						dbGAP											0			16											63.0	69.0	67.0					16																	66945811		2200	4300	6500	65503312	SO:0001583	missense	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1781G>A	16.37:g.66945811C>T	ENSP00000299752:p.Arg594Gln	Somatic	426	0.47	2		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	65503312	56	15.15	10	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.R594Q	ENST00000299752.4	37	c.1781	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	C	1.327	-0.597775	0.03771	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.69685	-0.42;0.13	5.5	-1.28	0.09318	Cadherin (3);Cadherin-like (1);	0.568324	0.19513	N	0.112474	T	0.29817	0.0745	N	0.11427	0.14	0.09310	N	1	P;P;P	0.40476	0.718;0.716;0.596	B;B;B	0.26770	0.073;0.05;0.033	T	0.41574	-0.9501	10	0.13108	T	0.6	-0.0789	4.91	0.13816	0.0:0.4202:0.15:0.4299	.	594;594;594	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Q	594;594;558	ENSP00000377619:R594Q;ENSP00000299752:R594Q	ENSP00000299752:R594Q	R	-	2	0	CDH16	65503312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.175000	0.09825	0.114000	0.18032	-0.291000	0.09656	CGA	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	protein_coding	OTTHUMT00000268839.2	C	NM_004062		65503312	-1	no_errors	NM_004062.2	genbank	human	reviewed	54_36p	missense	SNP	0.023	T
TP53	7157	genome.wustl.edu	37	17	7590694	7590694	+	Splice_Site	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr17:7590694C>T	ENST00000269305.4	-	1	162		c.e1+1		RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|WRAP53_ENST00000431639.2_Intron|WRAP53_ENST00000396463.2_5'Flank|WRAP53_ENST00000457584.2_5'Flank|TP53_ENST00000455263.2_Splice_Site|WRAP53_ENST00000316024.5_5'UTR|WRAP53_ENST00000534050.1_5'Flank	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						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)			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)	CAGGAGCTTACCCAATCCAGG	0.622		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	0			17	GRCh37	CS002469	TP53	S																																				7531419	SO:0001630	splice_region_variant	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.27+1G>A	17.37:g.7590694C>T		Somatic	57	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	7531419	17	54.05	20	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	Splice_Site	SNP	-	e0+1	ENST00000269305.4	37	c.1+1	CCDS11118.1	17																																																																																			-	-		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Intron	7531419	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	splice_site	SNP	0.966	T
COX10	1352	genome.wustl.edu	37	17	14110287	14110287	+	Silent	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr17:14110287C>T	ENST00000261643.3	+	7	1166	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	COX10_ENST00000537334.1_Silent_p.A146A|COX10_ENST00000536205.1_Silent_p.A171A	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	363					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTGCCTGGCCCTGCTCGTGC	0.667																																						dbGAP											0			17											91.0	77.0	82.0					17																	14110287		2203	4300	6503	14051012	SO:0001819	synonymous_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1089C>T	17.37:g.14110287C>T		Somatic	42	0.00	0		4	60.00	6	WXS	Illumina HiSeq	Phase_IV	14051012	20	44.44	16	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	HMMPfam_UbiA,PatternScan_UBIA	p.A363	ENST00000261643.3	37	c.1089	CCDS11166.1	17																																																																																			-	HMMPfam_UbiA		0.667	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	protein_coding	OTTHUMT00000130003.1	C	NM_001303		14051012	+1	no_errors	NM_001303.3	genbank	human	reviewed	54_36p	silent	SNP	0.993	T
KRT37	8688	genome.wustl.edu	37	17	39577726	39577726	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr17:39577726G>A	ENST00000225550.3	-	6	1133	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	378	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTCCAGGTCGGCCCGGATCT	0.597																																						dbGAP											0			17											75.0	67.0	70.0					17																	39577726		2203	4300	6503	36831252	SO:0001819	synonymous_variant	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1134C>T	17.37:g.39577726G>A		Somatic	105	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36831252	147	12.94	22		Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.A378	ENST00000225550.3	37	c.1134	CCDS32653.1	17																																																																																			-	HMMPfam_Filament		0.597	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	protein_coding	OTTHUMT00000257714.2	G	NM_003770		36831252	-1	no_errors	NM_003770.4	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
ZNF473	25888	genome.wustl.edu	37	19	50549971	50549971	+	Silent	SNP	T	T	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr19:50549971T>G	ENST00000595661.1	+	6	2766	c.2271T>G	c.(2269-2271)ccT>ccG	p.P757P	ZNF473_ENST00000445728.3_Silent_p.P745P|ZNF473_ENST00000391821.2_Silent_p.P757P|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.P757P|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	757					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAGAAAAGCCTTATGTTTGTC	0.517											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			19											78.0	79.0	79.0					19																	50549971		2203	4300	6503	55241783	SO:0001819	synonymous_variant	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2271T>G	19.37:g.50549971T>G		Somatic	483	0.00	0	970	10	50.00	10	WXS	Illumina HiSeq	Phase_IV	55241783	142	18.86	33	A8K8T7|Q9ULS9|Q9Y4Q7	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.P757	ENST00000595661.1	37	c.2271	CCDS33077.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.517	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	protein_coding	OTTHUMT00000464833.1	T	XM_046390		55241783	+1	no_errors	NM_001006656.1	genbank	human	validated	54_36p	silent	SNP	0.001	G
BACH1	571	genome.wustl.edu	37	21	30714966	30714966	+	Silent	SNP	C	C	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr21:30714966C>A	ENST00000399921.1	+	5	2266	c.2023C>A	c.(2023-2025)Cgg>Agg	p.R675R	BACH1_ENST00000286800.3_Silent_p.R675R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTATCTGACCGGCCTCCAGC	0.512																																						dbGAP											0			21											64.0	70.0	68.0					21																	30714966		2203	4300	6503	29636837	SO:0001819	synonymous_variant	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2023C>A	21.37:g.30714966C>A		Somatic	90	0.00	0		20	42.86	15	WXS	Illumina HiSeq	Phase_IV	29636837	104	31.61	49	Q3MJE2|Q8NCI5	Silent	SNP	HMMSmart_SM00225,HMMSmart_SM00338,PatternScan_BZIP_BASIC,superfamily_A DNA-binding domain in eukaryotic transcription factors,superfamily_POZ domain,HMMPfam_bZIP_1,HMMPfam_BTB	p.R675	ENST00000399921.1	37	c.2023	CCDS13585.1	21																																																																																			-	NULL		0.512	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	C	NM_206866		29636837	+1	no_errors	NM_001186.1	genbank	human	reviewed	54_36p	silent	SNP	0.016	A
