#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
DDX26B	203522	genome.wustl.edu	37	X	134655184	134655184	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrX:134655184G>A	ENST00000370752.4	+	2	464	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	DDX26B_ENST00000481908.1_3'UTR|DDX26B-AS1_ENST00000430820.1_RNA	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	44	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGACCCGGCCAGCCGTGG	0.652																																							0											0													22.0	19.0	20.0					X																	134655184		2198	4290	6488	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.130G>A	X.37:g.134655184G>A	ENSP00000359788:p.Ala44Thr		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.A44T	ENST00000370752.4	37	c.130	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271436	0.59649	.	.	ENSG00000165359	ENST00000370752	T	0.67345	-0.26	4.43	4.43	0.53597	von Willebrand factor, type A (2);	0.109595	0.64402	D	0.000008	T	0.67702	0.2921	M	0.74258	2.255	0.80722	D	1	B	0.21147	0.052	B	0.30782	0.12	T	0.65088	-0.6253	10	0.26408	T	0.33	-0.1795	13.8491	0.63485	0.0:0.0:1.0:0.0	.	44	Q5JSJ4	DX26B_HUMAN	T	44	ENSP00000359788:A44T	ENSP00000359788:A44T	A	+	1	0	DDX26B	134482850	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	7.178000	0.77657	1.926000	0.55796	0.529000	0.55759	GCC	0	pfscan_VWF_A		0.652	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	protein_coding	OTTHUMT00000058420.1	30	96	0	0.00	0	0	G	NM_182540	0	0		134655184	1	no_errors	ENST00000370752	ensembl	human	known	74_37	missense	28	58	12.5	4.84	4	3	SNP	1	A
TP73	7161	genome.wustl.edu	37	1	3638592	3638592	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:3638592C>T	ENST00000378295.4	+	5	592	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TP73_ENST00000378290.4_Missense_Mutation_p.P75L|TP73_ENST00000346387.4_Missense_Mutation_p.P146L|TP73_ENST00000378280.1_Missense_Mutation_p.P97L|TP73_ENST00000357733.3_Missense_Mutation_p.P146L|TP73_ENST00000378285.1_Missense_Mutation_p.P97L|TP73_ENST00000604479.1_Missense_Mutation_p.P146L|TP73_ENST00000378288.4_Missense_Mutation_p.P97L|TP73_ENST00000603362.1_Missense_Mutation_p.P146L|TP73_ENST00000604074.1_Missense_Mutation_p.P146L|TP73_ENST00000354437.4_Missense_Mutation_p.P146L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	146	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGTACTCCCCGCTCTTGAAG	0.652																																							0											0													103.0	96.0	98.0					1																	3638592		2203	4300	6503	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.437C>T	1.37:g.3638592C>T	ENSP00000367545:p.Pro146Leu		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.P146L	ENST00000378295.4	37	c.437	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532429	0.45073	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	3.12	3.12	0.35913	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	0.99444	0.9803	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.998;0.988;0.989;0.962;0.991	B;P;B;P;P;P	0.56278	0.436;0.795;0.309;0.491;0.455;0.699	D	0.97720	1.0196	10	0.66056	D	0.02	-15.6715	13.7221	0.62735	0.0:1.0:0.0:0.0	.	97;97;97;97;146;146	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	146;146;146;146;97;97;97;75	ENSP00000367545:P146L;ENSP00000346423:P146L;ENSP00000350366:P146L;ENSP00000340740:P146L;ENSP00000367537:P97L;ENSP00000367534:P97L;ENSP00000367529:P97L;ENSP00000367539:P75L	ENSP00000340740:P146L	P	+	2	0	TP73	3628452	1.000000	0.71417	0.831000	0.32960	0.009000	0.06853	7.386000	0.79775	1.762000	0.52044	0.491000	0.48974	CCG	0	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	protein_coding	OTTHUMT00000001468.4	63	182	0	0.00	0	0	C	NM_005427	0	0		3638592	1	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	52	144	18.75	10.00	12	16	SNP	0.998	T
PEX14	5195	genome.wustl.edu	37	1	10689946	10689946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:10689946C>T	ENST00000356607.4	+	9	1116	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	PEX14_ENST00000538836.1_Nonsense_Mutation_p.Q282*	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	346					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGGGTGCAGAGGGAGGA	0.662																																							0											0													177.0	184.0	182.0					1																	10689946		2201	4300	6501	SO:0001587	stop_gained	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1036C>T	1.37:g.10689946C>T	ENSP00000349016:p.Gln346*		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Nonsense_Mutation	SNP	pfam_Pex14_N	p.Q346*	ENST00000356607.4	37	c.1036	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895196	0.72639	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	.	.	.	5.03	5.03	0.67393	.	0.189359	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.9653	0.89098	0.0:1.0:0.0:0.0	.	.	.	.	X	346;282	.	ENSP00000349016:Q346X	Q	+	1	0	PEX14	10612533	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.316000	0.79007	2.319000	0.78375	0.563000	0.77884	CAG	0	NULL		0.662	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	protein_coding	OTTHUMT00000005414.1	29	80	0	0.00	0	0	C		0	0		10689946	1	no_errors	ENST00000356607	ensembl	human	known	74_37	nonsense	9	76	25	12.64	3	11	SNP	1	T
HRNR	388697	genome.wustl.edu	37	1	152192370	152192370	+	Missense_Mutation	SNP	C	C	T	rs151024802	byFrequency	TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:152192370C>T	ENST00000368801.2	-	3	1810	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	579					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGAGTGACCGGAGCCAGAC	0.577																																							0											0								C	SER/GLY	0,4406		0,0,2203	217.0	218.0	218.0		1735	1.2	0.0	1	dbSNP_134	218	3,8597		0,3,4297	no	missense	HRNR	NM_001009931.1	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	579/2851	152192370	3,13003	2203	4300	6503	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1735G>A	1.37:g.152192370C>T	ENSP00000357791:p.Gly579Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G579S	ENST00000368801.2	37	c.1735	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	9.338	1.062328	0.19987	0.0	3.49E-4	ENSG00000197915	ENST00000368801	T	0.01981	4.52	4.1	1.2	0.21068	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	B	0.36567	0.228	T	0.34675	-0.9819	9	0.10636	T	0.68	.	7.5313	0.27685	0.0:0.7047:0.0:0.2953	.	579	Q86YZ3	HORN_HUMAN	S	579	ENSP00000357791:G579S	ENSP00000357791:G579S	G	-	1	0	HRNR	150458994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.436000	0.06922	0.081000	0.16988	-0.236000	0.12185	GGT	0	NULL		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	75	38	0	0.00	0	0	C	XM_373868	rs151024802	C->T		152192370	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	78	36	7.14	23.40	6	11	SNP	0.003	T
FEZ2	9637	genome.wustl.edu	37	2	36780128	36780128	+	3'UTR	SNP	A	A	G			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr2:36780128A>G	ENST00000405912.3	-	0	1239				AC007401.2_ENST00000406220.1_5'Flank|FEZ2_ENST00000305852.7_3'UTR|FEZ2_ENST00000487919.1_5'UTR|FEZ2_ENST00000379245.4_3'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)						axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AATAGTGCCCATATTTCCGTT	0.313																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.*178T>C	2.37:g.36780128A>G			Q5EBN3|Q76LN0|Q99690	RNA	SNP	0	NULL	ENST00000405912.3	37	NULL	CCDS46257.1	2																																																																																			0	0		0.313	FEZ2-002	KNOWN	basic|CCDS	protein_coding	FEZ2	protein_coding	OTTHUMT00000325432.1	91	265	0	0.00	0	0	A		0	0		36780128	-1	no_errors	ENST00000487282	ensembl	human	known	74_37	rna	46	212	13.21	9.75	7	23	SNP	0.006	G
SCN1A	6323	genome.wustl.edu	37	2	166848733	166848733	+	Silent	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr2:166848733G>A	ENST00000303395.4	-	26	5051	c.5052C>T	c.(5050-5052)taC>taT	p.Y1684Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.Y1673Y|SCN1A_ENST00000409050.1_Silent_p.Y1656Y|SCN1A_ENST00000423058.2_Silent_p.Y1684Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1684					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)	CAAAGATGGCGTAGATGAACA	0.473																																							0											0													181.0	166.0	171.0					2																	166848733		2203	4300	6503	SO:0001819	synonymous_variant	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.5052C>T	2.37:g.166848733G>A			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.Y1684	ENST00000303395.4	37	c.5052	CCDS54413.1	2																																																																																			0	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	133	57	0	0.00	0	0	G	NM_006920	0	0		166848733	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	82	44	14.58	6.38	14	3	SNP	0.934	A
ATP2B2	491	genome.wustl.edu	37	3	10400446	10400446	+	Missense_Mutation	SNP	T	T	C			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr3:10400446T>C	ENST00000352432.4	-	13	2134	c.2065A>G	c.(2065-2067)Aat>Gat	p.N689D	ATP2B2_ENST00000383800.4_Missense_Mutation_p.N644D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N689D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.N675D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.N644D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	689					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCATTCTCATTGTCCCAGTCC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)		0											0													73.0	58.0	63.0					3																	10400446		2203	4300	6503	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2065A>G	3.37:g.10400446T>C	ENSP00000324172:p.Asn689Asp		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.N689D	ENST00000352432.4	37	c.2065	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632056	0.29068	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	4.65	3.46	0.39613	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.047993	0.85682	D	0.000000	D	0.85695	0.5756	N	0.01473	-0.845	0.54753	D	0.999989	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.15052	0.007;0.004;0.012	T	0.77638	-0.2513	10	0.08179	T	0.78	-35.7613	11.3291	0.49467	0.0:0.0:0.1526:0.8474	.	624;656;689	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	689;644;644;689;675;624;545;689	ENSP00000324172:N689D;ENSP00000373311:N644D;ENSP00000380267:N644D;ENSP00000353414:N689D;ENSP00000344677:N675D;ENSP00000414854:N545D	ENSP00000342954:N689D	N	-	1	0	ATP2B2	10375446	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.386000	0.52492	0.618000	0.30179	0.402000	0.26972	AAT	0	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	30	105	0	0.00	0	0	T	NM_001683	0	0		10400446	-1	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	11	78	26.67	11.36	4	10	SNP	1	C
RNF212	285498	genome.wustl.edu	37	4	1050231	1050231	+	IGR	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr4:1050231G>A								RP11-460I19.2 (27471 upstream) : RNF212 (15037 downstream)																							GGTCCCGCAGGAGGCATGGAA	0.522																																							0											0																																										SO:0001628	intergenic_variant	0																															4.37:g.1050231G>A				RNA	SNP	0	NULL		37	NULL		4																																																																																			0	0	0	0.522					RNF212			67	270	0	0.00	0	0	G		0	0		1050231	-1	no_errors	ENST00000503206	ensembl	human	known	74_37	rna	37	187	13.95	18.70	6	43	SNP	0.021	A
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	513	148	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	279	125	13.58	10.64	44	15	SNP	1	A
INTS9	55756	genome.wustl.edu	37	8	28627418	28627418	+	Missense_Mutation	SNP	C	C	G			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr8:28627418C>G	ENST00000521022.1	-	16	1869	c.1788G>C	c.(1786-1788)caG>caC	p.Q596H	INTS9_ENST00000397363.4_Missense_Mutation_p.Q490H|INTS9_ENST00000416984.2_Missense_Mutation_p.Q575H|INTS9_ENST00000521777.1_Missense_Mutation_p.Q572H	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	596					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCTCCAGGGTCTGCACGAACT	0.587											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													125.0	97.0	107.0					8																	28627418		2203	4300	6503	SO:0001583	missense	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1788G>C	8.37:g.28627418C>G	ENSP00000429065:p.Gln596His	803	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.Q596H	ENST00000521022.1	37	c.1788	CCDS34873.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627557|1.627557	0.28978|0.28978	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363|ENST00000517383	T;T;T;T|.	0.47177|.	0.85;0.86;0.85;0.85|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.194262|.	0.46758|.	D|.	0.000275|.	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.47716|0.47716	1.5|1.5	0.43453|0.43453	D|D	0.995644|0.995644	B;B|.	0.20671|.	0.047;0.016|.	B;B|.	0.17433|.	0.018;0.015|.	T|T	0.57659|0.57659	-0.7773|-0.7773	10|5	0.52906|.	T|.	0.07|.	-19.7954|-19.7954	14.0156|14.0156	0.64523|0.64523	0.0:0.928:0.0:0.072|0.0:0.928:0.0:0.072	.|.	575;596|.	B7Z6M5;Q9NV88|.	.;INT9_HUMAN|.	H|T	596;575;440;572;490|70	ENSP00000429065:Q596H;ENSP00000398208:Q575H;ENSP00000430943:Q572H;ENSP00000380520:Q490H|.	ENSP00000380520:Q490H|.	Q|R	-|-	3|2	2|0	INTS9|INTS9	28683337|28683337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.336000|0.336000	0.28762|0.28762	3.754000|3.754000	0.55189|0.55189	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	CAG|AGA	0	NULL		0.587	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	protein_coding	OTTHUMT00000376846.1	34	155	0	0.00	0	0	C	NM_018250	0	0		28627418	-1	no_errors	ENST00000521022	ensembl	human	known	74_37	missense	29	131	9.38	7.75	3	11	SNP	1	G
ADAM3A	1587	genome.wustl.edu	37	8	39350705	39350705	+	RNA	SNP	T	T	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr8:39350705T>A	ENST00000490268.2	-	0	933					NR_073423.1				ADAM metallopeptidase domain 3A (pseudogene)																		CAATCCCAGATTAATTCCAAG	0.358																																							0											0																																												0			X89657		8p11.22	2012-06-11	2012-06-11		ENSG00000197475	ENSG00000197475		"""ADAM metallopeptidase domain containing"""	209	pseudogene	pseudogene			"""cyritestin 1"", ""a disintegrin and metalloproteinase domain 3a (cyritestin 1)"", ""ADAM metallopeptidase domain 3A, pseudogene"", ""ADAM metallopeptidase domain 3A"""	CYRN1		9502432, 11439107	Standard	NR_024107		Approved	ADAM3, tMDCI	uc003xnf.4		OTTHUMG00000154991		8.37:g.39350705T>A				RNA	SNP	0	NULL	ENST00000490268.2	37	NULL		8																																																																																			0	0		0.358	ADAM3A-005	KNOWN	basic	processed_transcript	ADAM3A	pseudogene	OTTHUMT00000337953.1	66	187	0	0.00	0	0	T	NR_001569	0	0		39350705	-1	no_errors	ENST00000424066	ensembl	human	known	74_37	rna	37	130	11.9	16.13	5	25	SNP	0.153	A
PKHD1L1	93035	genome.wustl.edu	37	8	110451154	110451154	+	Silent	SNP	T	T	C			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr8:110451154T>C	ENST00000378402.5	+	32	3893	c.3789T>C	c.(3787-3789)taT>taC	p.Y1263Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1263	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAAGGGCTATAATTTTGGAA	0.318										HNSCC(38;0.096)																													0											0													43.0	41.0	42.0					8																	110451154		1802	4066	5868	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3789T>C	8.37:g.110451154T>C			Q567P2|Q9UF27	Silent	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Y1263	ENST00000378402.5	37	c.3789	CCDS47911.1	8																																																																																			0	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	114	294	0	0.00	0	0	T	NM_177531	0	0		110451154	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	67	205	18.29	7.66	15	17	SNP	1	C
DBX1	120237	genome.wustl.edu	37	11	20177914	20177914	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr11:20177914G>A	ENST00000524983.2	-	4	1166	c.878C>T	c.(877-879)gCg>gTg	p.A293V	DBX1_ENST00000227256.3_Missense_Mutation_p.A332V			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTCGGAGGACGCGTGGTAGGC	0.731																																							0											0													12.0	17.0	15.0					11																	20177914		2183	4268	6451	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.878C>T	11.37:g.20177914G>A	ENSP00000436881:p.Ala293Val			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A332V	ENST00000524983.2	37	c.995		11	.	.	.	.	.	.	.	.	.	.	G	8.121	0.781040	0.16120	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91464	-2.85;0.18	5.13	-0.626	0.11544	.	1.040730	0.07553	N	0.915754	T	0.77916	0.4202	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.62081	-0.6929	10	0.29301	T	0.29	-5.9124	1.4907	0.02456	0.317:0.1114:0.3886:0.1831	.	332	F8W811	.	V	293;332	ENSP00000436881:A293V;ENSP00000227256:A332V	ENSP00000227256:A332V	A	-	2	0	DBX1	20134490	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.044000	0.12023	-0.026000	0.13895	-0.768000	0.03414	GCG	0	NULL		0.731	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	protein_coding	OTTHUMT00000387585.2	40	43	0	0.00	0	0	G	NM_001029865	0	0		20177914	-1	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	34	21	22.73	22.22	10	6	SNP	0	A
KCNA4	3739	genome.wustl.edu	37	11	30034742	30034742	+	5'UTR	SNP	C	C	A	rs528453709		TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr11:30034742C>A	ENST00000328224.6	-	0	717				KCNA4_ENST00000526518.1_5'UTR	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATGGCTCGAACCATGTTAAGA	0.398																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.-517G>T	11.37:g.30034742C>A				RNA	SNP	0	NULL	ENST00000328224.6	37	NULL	CCDS41629.1	11																																																																																			0	0		0.398	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	130	356	0	0.56	0	2	C	NM_002233	0	0		30034742	-1	no_errors	ENST00000526518	ensembl	human	putative	74_37	rna	65	209	10.81	13.64	8	33	SNP	0.97	A
ANO6	196527	genome.wustl.edu	37	12	45784258	45784258	+	Missense_Mutation	SNP	T	T	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr12:45784258T>A	ENST00000320560.8	+	12	1565	c.1363T>A	c.(1363-1365)Tgt>Agt	p.C455S	ANO6_ENST00000423947.3_Missense_Mutation_p.C476S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.C455S|ANO6_ENST00000425752.2_Missense_Mutation_p.C455S|ANO6_ENST00000441606.2_Missense_Mutation_p.C437S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	455					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATAACCCTCTGTGCCAGTGC	0.303																																							0											0													169.0	183.0	178.0					12																	45784258		2203	4300	6503	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1363T>A	12.37:g.45784258T>A	ENSP00000320087:p.Cys455Ser		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.C455S	ENST00000320560.8	37	c.1363	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	T	6.079	0.382819	0.11524	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.26	5.26	0.73747	.	0.048654	0.85682	D	0.000000	T	0.26593	0.0650	N	0.02854	-0.475	0.48696	D	0.999691	B;B;B;B	0.16166	0.003;0.001;0.016;0.008	B;B;B;B	0.19666	0.01;0.004;0.026;0.019	T	0.24012	-1.0172	10	0.02654	T	1	.	15.5693	0.76320	0.0:0.0:0.0:1.0	.	437;476;455;455	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	455;476;455;455;437	ENSP00000391417:C455S;ENSP00000409126:C476S;ENSP00000413840:C455S;ENSP00000320087:C455S;ENSP00000413137:C437S	ENSP00000320087:C455S	C	+	1	0	ANO6	44070525	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	4.067000	0.57527	2.291000	0.77112	0.533000	0.62120	TGT	0	pfam_Anoctamin		0.303	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	protein_coding	OTTHUMT00000404822.1	153	371	0	0.00	0	0	T	XM_113743	0	0		45784258	1	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	70	280	16.67	11.64	14	37	SNP	1	A
MYBPC1	4604	genome.wustl.edu	37	12	102025390	102025390	+	Missense_Mutation	SNP	C	C	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr12:102025390C>A	ENST00000550270.1	+	5	256	c.256C>A	c.(256-258)Ctt>Att	p.L86I	MYBPC1_ENST00000549145.1_Missense_Mutation_p.L99I|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L111I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L60I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L74I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L111I|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L73I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L72I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	86	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCTGAAGATCTTCTGAGAAA	0.443																																							0											0													88.0	88.0	88.0					12																	102025390		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.256C>A	12.37:g.102025390C>A	ENSP00000449702:p.Leu86Ile		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L111I	ENST00000550270.1	37	c.331	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700170	0.88924	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000363	T	0.65048	0.2654	L	0.57536	1.79	0.80722	D	1	B;P;P;P;P;B;P;P;B;P;P	0.51653	0.088;0.932;0.947;0.883;0.883;0.088;0.858;0.883;0.451;0.858;0.858	P;D;D;D;D;P;D;D;D;D;D	0.91635	0.784;0.995;0.984;0.995;0.999;0.784;0.991;0.996;0.926;0.991;0.997	T	0.63812	-0.6552	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	86;74;86;86;73;60;86;86;111;111;99	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	I	60;86;86;86;73;72;111;99;86;111;86;86;74;111;86	ENSP00000448175:L60I;ENSP00000400908:L86I;ENSP00000388989:L86I;ENSP00000353822:L86I;ENSP00000376665:L73I;ENSP00000447362:L72I;ENSP00000354845:L111I;ENSP00000447660:L99I;ENSP00000447900:L86I;ENSP00000440034:L86I;ENSP00000446128:L86I;ENSP00000442847:L74I;ENSP00000354849:L111I;ENSP00000449702:L86I	ENSP00000353822:L86I	L	+	1	0	MYBPC1	100549521	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.909000	0.63314	2.826000	0.97356	0.655000	0.94253	CTT	0	pfam_Ig_I-set,smart_Ig_sub		0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	protein_coding	OTTHUMT00000408806.1	67	191	0	0.00	0	0	C		0	0		102025390	1	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	39	145	11.36	14.20	5	24	SNP	1	A
DHX40	79665	genome.wustl.edu	37	17	57654626	57654626	+	Splice_Site	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr17:57654626G>A	ENST00000251241.4	+	8	1120		c.e8-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATATACTTCAGATCAACAGAG	0.343																																							0											0													73.0	69.0	70.0					17																	57654626		2203	4300	6503	SO:0001630	splice_region_variant	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.974-1G>A	17.37:g.57654626G>A			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Splice_Site	SNP	0	e8-1	ENST00000251241.4	37	c.974-1	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027212	0.19512	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.718	0.88343	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55009408	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	8.961000	0.93122	2.179000	0.69175	0.313000	0.20887	.	0	0		0.343	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	protein_coding	OTTHUMT00000446095.1	100	333	0	0.00	0	0	G	NM_024612	0	0	Intron	57654626	1	no_errors	ENST00000251241	ensembl	human	known	74_37	splice_site	65	237	10.96	8.81	8	23	SNP	1	A
ANKRD12	23253	genome.wustl.edu	37	18	9257210	9257210	+	Silent	SNP	C	C	T			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr18:9257210C>T	ENST00000262126.4	+	9	4185	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.V1292V|ANKRD12_ENST00000383440.2_Silent_p.V1292V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1315						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCCTTCTGTCATTTGTGAAC	0.403																																							0											0													132.0	125.0	127.0					18																	9257210		2203	4300	6503	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3945C>T	18.37:g.9257210C>T			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V1315	ENST00000262126.4	37	c.3945	CCDS11843.1	18																																																																																			0	NULL		0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	103	340	0	0.00	0	0	C	NM_015208	0	0		9257210	1	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	40	258	20	11.90	10	35	SNP	0.996	T
EMR1	2015	genome.wustl.edu	37	19	6919662	6919662	+	Silent	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr19:6919662G>A	ENST00000312053.4	+	13	1561	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	EMR1_ENST00000381407.5_Silent_p.K367K|EMR1_ENST00000450315.3_Silent_p.K331K|EMR1_ENST00000250572.8_Silent_p.K508K|EMR1_ENST00000381404.4_Silent_p.K456K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	508	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGAGATCAAGCTGAAGATGA	0.478																																							0											0													131.0	121.0	124.0					19																	6919662		2203	4300	6503	SO:0001819	synonymous_variant	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1524G>A	19.37:g.6919662G>A			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.K508	ENST00000312053.4	37	c.1524	CCDS12175.1	19																																																																																			0	NULL		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	39	191	0	0.00	0	0	G		0	0		6919662	1	no_errors	ENST00000312053	ensembl	human	known	74_37	silent	35	141	10.26	10.19	4	16	SNP	0.041	A
CYP4F12	66002	genome.wustl.edu	37	19	15806749	15806749	+	Silent	SNP	C	C	T			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr19:15806749C>T	ENST00000550308.1	+	10	1499	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	CYP4F12_ENST00000324632.10_Silent_p.D373D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	373					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TCCTTAGGGACGACCTGGCCC	0.522																																							0											0													89.0	85.0	86.0					19																	15806749		2203	4300	6503	SO:0001819	synonymous_variant	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1119C>T	19.37:g.15806749C>T			E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.D373	ENST00000550308.1	37	c.1119	CCDS42517.1	19																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.522	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	65	133	0	0.75	0	1	C		0	0		15806749	1	no_errors	ENST00000324632	ensembl	human	known	74_37	silent	46	131	13.21	13.82	7	21	SNP	1	T
PCNT	5116	genome.wustl.edu	37	21	47860018	47860018	+	Missense_Mutation	SNP	A	A	T			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr21:47860018A>T	ENST00000359568.5	+	42	9403	c.9296A>T	c.(9295-9297)aAg>aTg	p.K3099M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3099	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCTGCTTGGAAGCCAGACGAA	0.607																																							0											0													69.0	73.0	71.0					21																	47860018		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9296A>T	21.37:g.47860018A>T	ENSP00000352572:p.Lys3099Met		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K3099M	ENST00000359568.5	37	c.9296	CCDS33592.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.01|14.01	2.406972|2.406972	0.42715|0.42715	.|.	.|.	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|.	0.01665|.	4.7|.	5.16|5.16	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.32530|0.32530	0.975|0.975	0.29662|0.29662	N|N	0.843112|0.843112	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72338|.	0.977;0.95|.	T|T	0.30297|0.30297	-0.9983|-0.9983	9|5	0.87932|.	D|.	0|.	.|.	7.7574|7.7574	0.28932|0.28932	0.7521:0.0:0.2479:0.0|0.7521:0.0:0.2479:0.0	.|.	2902;3099|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	M|C	3099|80	ENSP00000352572:K3099M|.	ENSP00000352572:K3099M|.	K|S	+|+	2|1	0|0	PCNT|PCNT	46684446|46684446	0.991000|0.991000	0.36638|0.36638	0.955000|0.955000	0.39395|0.39395	0.040000|0.040000	0.13550|0.13550	0.516000|0.516000	0.22817|0.22817	0.148000|0.148000	0.19059|0.19059	0.533000|0.533000	0.62120|0.62120	AAG|AGC	0	NULL		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	51	98	0	1.01	0	1	A	NM_006031	0	0		47860018	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	36	68	18.18	10.53	8	8	SNP	0.997	T
PCYT1B	9468	genome.wustl.edu	37	X	24580544	24580548	+	Frame_Shift_Del	DEL	GGGTT	GGGTT	-			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	GGGTT	GGGTT	GGGTT	-	GGGTT	GGGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrX:24580544_24580548delGGGTT	ENST00000379144.2	-	8	1102_1106	c.972_976delAACCC	c.(970-978)ccaacccggfs	p.TR325fs	PCYT1B_ENST00000356768.4_Intron|PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.TR307fs	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	325					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GACCGGCTCCGGGTTGGGCTGCTCA	0.585																																							0											0																																										SO:0001589	frameshift_variant	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.972_976delAACCC	X.37:g.24580544_24580548delGGGTT	ENSP00000368439:p.Thr325fs		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Frame_Shift_Del	DEL	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.T325fs	ENST00000379144.2	37	c.976_972	CCDS14213.1	X																																																																																			0	NULL		0.585	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	protein_coding	OTTHUMT00000056103.1	54	180	0	0.00	0	0	GGGTT	NM_004845	0	0		24580548	-1	no_errors	ENST00000379144	ensembl	human	known	74_37	frame_shift_del	32	121	11.11	5.47	4	7	DEL	0.102:0.073:0.869:0.862:0.173	0
PTTG1IP	754	genome.wustl.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	GCA	GCA	GCA	-	GCA	GCA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																							0											0																																										SO:0001651	inframe_deletion	0			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	smart_Plexin-like_fold	p.C121in_frame_del	ENST00000330938.3	37	c.363_361	CCDS13715.1	21																																																																																			0	NULL		0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	protein_coding	OTTHUMT00000206553.1	50	111	0	0.00	0	0	GCA		0	0		46276196	-1	no_errors	ENST00000330938	ensembl	human	known	74_37	in_frame_del	28	80	9.68	4.76	3	4	DEL	1.000:1.000:1.000	0
MT-CO1	4512	genome.wustl.edu	37	M	7220	7220	+	Silent	SNP	T	T	C			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrM:7220T>C	ENST00000361624.2	+	1	1317	c.1317T>C	c.(1315-1317)cgT>cgC	p.R439R	MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	439					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						ATGCCCCGACGTTACTCGGAC	0.413																																							0											0																																										SO:0001819	synonymous_variant	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.1317T>C	M.37:g.7220T>C			Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.R439	ENST00000361624.2	37	c.1317		MT																																																																																			0	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.413	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		29	1	0	0.00	0	0	T	YP_003024028	0	0		7220	1	no_errors	ENST00000361624	ensembl	human	known	74_37	silent	17	1	22.73	0.00	5	0	SNP	NULL	C
MT-CO2	4513	genome.wustl.edu	37	M	7970	7970	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrM:7970G>A	ENST00000361739.1	+	1	385	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	129					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CATTATTCCTAGAACCAGGCG	0.463																																							0											0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.385G>A	M.37:g.7970G>A	ENSP00000354876:p.Glu129Lys		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.E129K	ENST00000361739.1	37	c.385		MT																																																																																			0	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2		0.463	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		170	0	0	0.00	0	0	G	YP_003024029	0	0		7970	1	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	155	0	10.92	0.00	19	0	SNP	NULL	A
