#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BACH1	571	genome.wustl.edu	37	21	30699316	30699316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr21:30699316C>T	ENST00000399921.1	+	3	1414	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.R391*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)	p.R391*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TAGTGTGGAGCGAGAAGTGGC	0.468																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											72.0	67.0	69.0					21																	30699316		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1171C>T	21.37:g.30699316C>T	ENSP00000382805:p.Arg391*		Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.R391*	ENST00000399921.1	37	c.1171	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	37	6.172407	0.97348	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.38	2.3	0.28687	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.323	13.2491	0.60041	0.6552:0.3448:0.0:0.0	.	.	.	.	X	391	.	ENSP00000286800:R391X	R	+	1	2	BACH1	29621187	0.997000	0.39634	0.069000	0.20011	0.835000	0.47333	2.026000	0.41069	0.801000	0.34066	0.655000	0.94253	CGA	BACH1	-	NULL	ENSG00000156273		0.468	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	94	0.00	0	C	NM_206866		30699316	30699316	+1	no_errors	ENST00000286800	ensembl	human	known	69_37n	nonsense	140	38.16	87	SNP	0.901	T
CHST11	50515	genome.wustl.edu	37	12	105150939	105150939	+	Silent	SNP	C	C	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr12:105150939C>T	ENST00000303694.5	+	3	856	c.417C>T	c.(415-417)acC>acT	p.T139T	CHST11_ENST00000549260.1_Silent_p.T134T	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	139					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.T139T(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGGTCCTGACCGGGCGGGGGA	0.597																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											64.0	64.0	64.0					12																	105150939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.417C>T	12.37:g.105150939C>T			A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	pfam_Sulfotransferase	p.T139	ENST00000303694.5	37	c.417	CCDS9099.1	12																																																																																			CHST11	-	pfam_Sulfotransferase	ENSG00000171310		0.597	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	HGNC	protein_coding	OTTHUMT00000405960.2	78	0.00	0	C	NM_018413		105150939	105150939	+1	no_errors	ENST00000303694	ensembl	human	known	69_37n	silent	72	24.21	23	SNP	0.051	T
DLL1	28514	genome.wustl.edu	37	6	170594673	170594674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr6:170594673_170594674insC	ENST00000366756.3	-	6	1178_1179	c.845_846insG	c.(844-846)ggcfs	p.G282fs		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	282	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCAGAAAAGGCCCCCCCAGCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.846dupG	6.37:g.170594680_170594680dupC	ENSP00000355718:p.Gly282fs		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Ins	INS	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.L283fs	ENST00000366756.3	37	c.846_845	CCDS5313.1	6																																																																																			DLL1	-	smart_EGF-like	ENSG00000198719		0.599	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	31	0.00	0	-			170594673	170594674	-1	no_errors	ENST00000366756	ensembl	human	known	69_37n	frame_shift_ins	54	11.48	7	INS	0.973:1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169127104	169127104	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr5:169127104G>A	ENST00000256935.8	+	13	1299	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	407					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V407M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCACCGTGGTGGCCAGGAA	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											152.0	140.0	144.0					5																	169127104		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1219G>A	5.37:g.169127104G>A	ENSP00000256935:p.Val407Met		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain	p.V407M	ENST00000256935.8	37	c.1219	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720082	0.89205	.	.	ENSG00000134516	ENST00000256935	T	0.04706	3.57	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.01661	-1.1301	10	0.66056	D	0.02	.	16.6562	0.85229	0.0:0.0:0.869:0.131	.	407	Q92608	DOCK2_HUMAN	M	407	ENSP00000256935:V407M	ENSP00000256935:V407M	V	+	1	0	DOCK2	169059682	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.779000	0.85648	1.541000	0.49316	0.655000	0.94253	GTG	DOCK2	-	NULL	ENSG00000134516		0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	116	0.00	0	G	NM_004946		169127104	169127104	+1	no_errors	ENST00000256935	ensembl	human	known	69_37n	missense	83	35.88	47	SNP	1.000	A
EFS	10278	genome.wustl.edu	37	14	23829996	23829997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr14:23829996_23829997insG	ENST00000216733.3	-	2	671_672	c.64_65insC	c.(64-66)cagfs	p.Q22fs	EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	22	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGACAGCTCCTGGGGGGACTCA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.65dupC	14.37:g.23830002_23830002dupG	ENSP00000216733:p.Gln22fs		B2RAJ7|B4DJ56|E9PGU2|O43282	Frame_Shift_Ins	INS	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.Q22fs	ENST00000216733.3	37	c.65_64	CCDS9595.1	14																																																																																			EFS	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000100842		0.658	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2	20	0.00	0	-			23829996	23829997	-1	no_errors	ENST00000216733	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:1.000	G
ENTHD1	150350	genome.wustl.edu	37	22	40161426	40161426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr22:40161426C>A	ENST00000325157.6	-	6	1271	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	341								p.E341*(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTGATAAACTCCTCTTTACTT	0.398																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											109.0	104.0	106.0					22																	40161426		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1021G>T	22.37:g.40161426C>A	ENSP00000317431:p.Glu341*		B0QYD5|Q5H9F7|Q96LK3	Nonsense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.E341*	ENST00000325157.6	37	c.1021	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	38	6.710701	0.97780	.	.	ENSG00000176177	ENST00000325157	.	.	.	5.65	4.63	0.57726	.	0.091919	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.9031	12.7238	0.57159	0.0:0.8351:0.1649:0.0	.	.	.	.	X	341	.	ENSP00000317431:E341X	E	-	1	0	ENTHD1	38491372	0.998000	0.40836	0.875000	0.34327	0.855000	0.48748	2.066000	0.41452	1.376000	0.46267	0.467000	0.42956	GAG	ENTHD1	-	NULL	ENSG00000176177		0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	154	0.00	0	C	NM_152512		40161426	40161426	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	nonsense	136	28.42	54	SNP	0.990	A
FCGBP	8857	genome.wustl.edu	37	19	40408747	40408747	+	Silent	SNP	C	C	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr19:40408747C>T	ENST00000221347.6	-	8	4099	c.4092G>A	c.(4090-4092)ctG>ctA	p.L1364L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1364	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.L1364L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCACACGCAGGCCGAAGT	0.592																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											66.0	57.0	60.0					19																	40408747		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4092G>A	19.37:g.40408747C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.L1364	ENST00000221347.6	37	c.4092	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	60	0.00	0	C	NM_003890		40408747	40408747	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	84	36.84	49	SNP	0.827	T
FNDC3B	64778	genome.wustl.edu	37	3	171851264	171851264	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr3:171851264A>G	ENST00000336824.4	+	3	214	c.115A>G	c.(115-117)Att>Gtt	p.I39V	FNDC3B_ENST00000421757.1_Missense_Mutation_p.I39V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I39V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I39V|FNDC3B_ENST00000423424.1_Missense_Mutation_p.I39V|FNDC3B_ENST00000392699.1_Missense_Mutation_p.I39V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	39					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.I39V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGGCAGGTTATTCTCGTTCA	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											138.0	133.0	135.0					3																	171851264		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.115A>G	3.37:g.171851264A>G	ENSP00000338523:p.Ile39Val		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I39V	ENST00000336824.4	37	c.115	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272490	0.59649	.	.	ENSG00000075420	ENST00000421757;ENST00000415807;ENST00000392699;ENST00000336824;ENST00000423424;ENST00000416957;ENST00000443501	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	6.02	6.02	0.97574	.	0.048849	0.85682	D	0.000000	T	0.70710	0.3255	L	0.59436	1.845	0.51482	D	0.999927	P	0.38129	0.619	B	0.39840	0.311	T	0.74006	-0.3803	10	0.72032	D	0.01	-18.5289	15.5246	0.75894	1.0:0.0:0.0:0.0	.	39	Q53EP0	FND3B_HUMAN	V	39;39;39;39;39;39;12	ENSP00000408496:I39V;ENSP00000411242:I39V;ENSP00000376463:I39V;ENSP00000338523:I39V;ENSP00000392471:I39V;ENSP00000389094:I39V;ENSP00000389064:I12V	ENSP00000338523:I39V	I	+	1	0	FNDC3B	173333958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.988000	0.63863	2.304000	0.77564	0.528000	0.53228	ATT	FNDC3B	-	NULL	ENSG00000075420		0.348	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	347	0.00	0	A	NM_022763		171851264	171851264	+1	no_errors	ENST00000336824	ensembl	human	known	69_37n	missense	245	26.87	90	SNP	1.000	G
FOXD3	27022	genome.wustl.edu	37	1	63789206	63789206	+	Silent	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr1:63789206G>A	ENST00000371116.2	+	1	477	c.477G>A	c.(475-477)caG>caA	p.Q159Q	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	159					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q159Q(1)		breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						AGAGCCCGCAGAAGAAGCTGA	0.622																																					Pancreas(68;276 1750 11966 31252)	dbGAP											1	Substitution - coding silent(1)	breast(1)											63.0	70.0	68.0					1																	63789206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.477G>A	1.37:g.63789206G>A			Q9BYM2|Q9UDD1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q159	ENST00000371116.2	37	c.477	CCDS624.1	1																																																																																			FOXD3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000187140		0.622	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1	29	0.00	0	G			63789206	63789206	+1	no_errors	ENST00000371116	ensembl	human	known	69_37n	silent	19	45.71	16	SNP	1.000	A
KCNJ12	3768	genome.wustl.edu	37	17	21319230	21319230	+	Missense_Mutation	SNP	G	G	C	rs1657742	byFrequency	TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr17:21319230G>C	ENST00000583088.1	+	3	1471	c.576G>C	c.(574-576)caG>caC	p.Q192H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Q192H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	192			Q -> H (in dbSNP:rs1657742).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGCGGGCACAGACGCTGCTGT	0.602										Prostate(3;0.18)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.576G>C	17.37:g.21319230G>C	ENSP00000463778:p.Gln192His		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.Q192H	ENST00000583088.1	37	c.576	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.781011	0.31502	.	.	ENSG00000184185	ENST00000331718	D	0.94232	-3.38	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.057665	0.64402	N	0.000001	D	0.90092	0.6905	L	0.50919	1.6	0.44771	D	0.99777	B	0.11235	0.004	B	0.13407	0.009	D	0.86469	0.1784	10	0.62326	D	0.03	.	9.6785	0.40056	0.1547:0.0:0.8453:0.0	rs1657742;rs60245310	192	Q14500	IRK12_HUMAN	H	192	ENSP00000328150:Q192H	ENSP00000328150:Q192H	Q	+	3	2	KCNJ12	21259823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.586000	0.46119	2.496000	0.84212	0.655000	0.94253	CAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	13	0.00	0	G	NM_021012		21319230	21319230	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	C
KPRP	448834	genome.wustl.edu	37	1	152732639	152732639	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr1:152732639G>A	ENST00000606109.1	+	1	603	c.575G>A	c.(574-576)gGc>gAc	p.G192D	KPRP_ENST00000368773.1_Missense_Mutation_p.G192D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	192	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G192D(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGTTGTGGCCCCCAGTTT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	146.0	147.0					1																	152732639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.575G>A	1.37:g.152732639G>A	ENSP00000475216:p.Gly192Asp			Missense_Mutation	SNP	NULL	p.G192D	ENST00000606109.1	37	c.575	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011427	0.07912	.	.	ENSG00000203786	ENST00000368773	T	0.14266	2.52	4.73	-3.95	0.04118	.	1.221480	0.06048	N	0.656152	T	0.01454	0.0047	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.45381	-0.9265	10	0.41790	T	0.15	-0.3266	2.2871	0.04129	0.1209:0.2227:0.4023:0.2541	.	192	Q5T749	KPRP_HUMAN	D	192	ENSP00000357762:G192D	ENSP00000357762:G192D	G	+	2	0	KPRP	150999263	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.508000	0.02266	-0.856000	0.04120	-0.867000	0.03001	GGC	KPRP	-	NULL	ENSG00000203786		0.567	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	168	0.00	0	G	NM_001025231		152732639	152732639	+1	no_errors	ENST00000368773	ensembl	human	known	69_37n	missense	307	20.61	81	SNP	0.000	A
NDN	4692	genome.wustl.edu	37	15	23931940	23931940	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr15:23931940C>T	ENST00000331837.4	-	1	510	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R142H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGGCTGGTGCGCCGGAGGAT	0.587									Prader-Willi syndrome																													dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	51.0	51.0					15																	23931940		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.425G>A	15.37:g.23931940C>T	ENSP00000332643:p.Arg142His		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R142H	ENST00000331837.4	37	c.425	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894953	0.72639	.	.	ENSG00000182636	ENST00000331837	T	0.06142	3.34	3.87	2.94	0.34122	.	0.061594	0.64402	D	0.000008	T	0.12689	0.0308	L	0.46741	1.465	0.40577	D	0.981358	D	0.56746	0.977	P	0.58620	0.842	T	0.01739	-1.1284	10	0.87932	D	0	.	7.934	0.29918	0.0:0.8799:0.0:0.1201	.	142	Q99608	NECD_HUMAN	H	142	ENSP00000332643:R142H	ENSP00000332643:R142H	R	-	2	0	NDN	21483033	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	3.387000	0.52501	0.926000	0.37118	0.561000	0.74099	CGC	NDN	-	pfam_MAGE,pfscan_MAGE	ENSG00000182636		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	19	0.00	0	C	NM_002487		23931940	23931940	-1	no_errors	ENST00000331837	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	0.982	T
LINGO1	84894	genome.wustl.edu	37	15	77907821	77907821	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr15:77907821C>T	ENST00000355300.6	-	2	602	c.428G>A	c.(427-429)aGc>aAc	p.S143N	LINGO1_ENST00000561030.1_Missense_Mutation_p.S137N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	143					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S137N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCAGGTTGCTGAGGCCAGT	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	93.0	91.0					15																	77907821		2130	4234	6364	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.428G>A	15.37:g.77907821C>T	ENSP00000347451:p.Ser143Asn		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S143N	ENST00000355300.6	37	c.428	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484848	0.44147	.	.	ENSG00000169783	ENST00000355300	T	0.58940	0.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	L	0.39245	1.2	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.43458	-0.9390	10	0.31617	T	0.26	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	143	Q96FE5	LIGO1_HUMAN	N	143	ENSP00000347451:S143N	ENSP00000347451:S143N	S	-	2	0	LINGO1	75694876	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	2.659000	0.90383	0.561000	0.74099	AGC	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.572	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	53	0.00	0	C	NM_032808		77907821	77907821	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	83	33.60	42	SNP	1.000	T
PHOX2B	8929	genome.wustl.edu	37	4	41750604	41750605	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr4:41750604_41750605insA	ENST00000226382.2	-	1	382_383	c.23_24insT	c.(22-24)tacfs	p.Y8fs	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	8					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AGGAATTGAGGTAAGAATATTC	0.485			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.23_24insT	4.37:g.41750604_41750605insA	ENSP00000226382:p.Tyr8fs		Q6PJD9	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1	p.L9fs	ENST00000226382.2	37	c.24_23	CCDS3463.1	4																																																																																			PHOX2B	-	NULL	ENSG00000109132		0.485	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	HGNC	protein_coding	OTTHUMT00000216832.2	28	0.00	0	-			41750604	41750605	-1	no_errors	ENST00000226382	ensembl	human	known	69_37n	frame_shift_ins	85	16.67	17	INS	1.000:1.000	A
PLCH1	23007	genome.wustl.edu	37	3	155199887	155199888	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr3:155199887_155199888delTT	ENST00000340059.7	-	23	3950_3951	c.3951_3952delAA	c.(3949-3954)aaaagtfs	p.S1318fs	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Frame_Shift_Del_p.S1280fs|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.S1280fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.S1280fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1318					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGGTAGGACTTTTTGGTAACC	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3951_3952delAA	3.37:g.155199889_155199890delTT	ENSP00000345988:p.Ser1318fs		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.P1319fs	ENST00000340059.7	37	c.3952_3951	CCDS46939.1	3																																																																																			PLCH1	-	NULL	ENSG00000114805		0.505	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	39	0.00	0	TT	NM_014996		155199887	155199888	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	frame_shift_del	42	25.86	15	DEL	0.587:0.585	-
PLEC	5339	genome.wustl.edu	37	8	145001190	145001190	+	Silent	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr8:145001190G>A	ENST00000322810.4	-	29	4480	c.4311C>T	c.(4309-4311)gcC>gcT	p.A1437A	PLEC_ENST00000356346.3_Silent_p.A1286A|PLEC_ENST00000354589.3_Silent_p.A1300A|PLEC_ENST00000398774.2_Silent_p.A1268A|PLEC_ENST00000357649.2_Silent_p.A1304A|PLEC_ENST00000354958.2_Silent_p.A1278A|PLEC_ENST00000527096.1_Silent_p.A1323A|PLEC_ENST00000345136.3_Silent_p.A1300A|PLEC_ENST00000436759.2_Silent_p.A1327A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1437	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.A1300A(1)|p.A1327A(1)|p.A1437A(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCTTCTTGGCCGGGGAGG	0.642																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											64.0	70.0	68.0					8																	145001190		2083	4205	6288	-	-	-	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4311C>T	8.37:g.145001190G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A1437	ENST00000322810.4	37	c.4311	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	19	0.00	0	G	NM_000445		145001190	145001190	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.996	A
POLR2J4	84820	genome.wustl.edu	37	7	44056086	44056086	+	RNA	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr7:44056086G>A	ENST00000427076.1	-	0	125				POLR2J4_ENST00000326391.6_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		TGAATAAACAGGCATTGGGTA	0.507																																						dbGAP											0																																										-	-	-			0					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44056086G>A				RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-	ENSG00000214783		0.507	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	POLR2J4	HGNC	processed_transcript	OTTHUMT00000473169.1	364	0.00	0	G	NR_003655		44056086	44056086	-1	no_errors	ENST00000326391	ensembl	human	known	69_37n	rna	355	21.06	95	SNP	0.997	A
PRAMEF7	441871	genome.wustl.edu	37	1	12980232	12980232	+	Silent	SNP	G	G	A	rs201674075		TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	0					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGTTGAATGCCTGCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1424G>A	1.37:g.12980232G>A			B9EIP0	Silent	SNP	NULL	p.*475	ENST00000361079.2	37	c.1424	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.532	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		32	0.00	0	G	NM_001012277		12980232	12980232	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	64	12.33	9	SNP	0.000	A
RAI14	26064	genome.wustl.edu	37	5	34812309	34812309	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr5:34812309A>C	ENST00000265109.3	+	10	1048	c.761A>C	c.(760-762)aAg>aCg	p.K254T	RAI14_ENST00000397449.1_Missense_Mutation_p.K247T|RAI14_ENST00000503673.1_Missense_Mutation_p.K254T|RAI14_ENST00000515799.1_Missense_Mutation_p.K257T|RAI14_ENST00000428746.2_Missense_Mutation_p.K254T|RAI14_ENST00000512629.1_Missense_Mutation_p.K254T|RAI14_ENST00000506376.1_Missense_Mutation_p.K246T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	254						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K254T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACAAAACCAAAGCAGGTATTT	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	113.0	110.0					5																	34812309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.761A>C	5.37:g.34812309A>C	ENSP00000265109:p.Lys254Thr		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K257T	ENST00000265109.3	37	c.770	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062721	0.55432	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.26;1.25	5.41	5.41	0.78517	.	.	.	.	.	T	0.45054	0.1323	L	0.29908	0.895	0.42680	D	0.993544	D;P;P;P	0.89917	1.0;0.624;0.51;0.624	D;B;B;B	0.85130	0.997;0.122;0.261;0.122	T	0.24941	-1.0146	9	0.17369	T	0.5	-13.9386	13.4977	0.61436	1.0:0.0:0.0:0.0	.	246;254;257;254	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	254;254;254;254;257;246;247	ENSP00000265109:K254T;ENSP00000422377:K254T;ENSP00000388725:K254T;ENSP00000422942:K254T;ENSP00000427123:K257T;ENSP00000423854:K246T;ENSP00000380591:K247T	ENSP00000265109:K254T	K	+	2	0	RAI14	34848066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.544000	0.67231	2.171000	0.68590	0.528000	0.53228	AAG	RAI14	-	NULL	ENSG00000039560		0.348	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	399	0.00	0	A	NM_015577		34812309	34812309	+1	no_errors	ENST00000515799	ensembl	human	known	69_37n	missense	270	32.50	130	SNP	1.000	C
SMCHD1	23347	genome.wustl.edu	37	18	2747542	2747542	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr18:2747542G>T	ENST00000320876.6	+	30	4162	c.3824G>T	c.(3823-3825)aGa>aTa	p.R1275I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1275I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1275					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1275I(2)|p.R723I(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTAATGGAAGAGATTTACAG	0.313																																						dbGAP											3	Substitution - Missense(3)	breast(3)											66.0	61.0	62.0					18																	2747542		1801	4066	5867	-	-	-	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3824G>T	18.37:g.2747542G>T	ENSP00000326603:p.Arg1275Ile		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.R1275I	ENST00000320876.6	37	c.3824	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208640	0.39003	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23348	1.91;1.91	5.36	3.22	0.36961	.	0.339071	0.33732	N	0.004606	T	0.17066	0.0410	L	0.36672	1.1	0.44539	D	0.997491	B	0.06786	0.001	B	0.04013	0.001	T	0.09079	-1.0691	10	0.19147	T	0.46	-12.8317	7.6005	0.28073	0.4632:0.0:0.5368:0.0	.	1275	A6NHR9	SMHD1_HUMAN	I	1275	ENSP00000326603:R1275I;ENSP00000261598:R1275I	ENSP00000261598:R1275I	R	+	2	0	SMCHD1	2737542	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.274000	0.43390	0.348000	0.23949	0.585000	0.79938	AGA	SMCHD1	-	NULL	ENSG00000101596		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	147	0.00	0	G			2747542	2747542	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	81	25.69	28	SNP	1.000	T
TMC4	147798	genome.wustl.edu	37	19	54676772	54676772	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr19:54676772G>A	ENST00000376591.4	-	1	172	c.41C>T	c.(40-42)tCc>tTc	p.S14F	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.S14F	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	14					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S14F(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCCTAGAGGAGCCCCAGGC	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	104.0	100.0					19																	54676772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.41C>T	19.37:g.54676772G>A	ENSP00000365776:p.Ser14Phe		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.S14F	ENST00000376591.4	37	c.41	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404981	0.42613	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.73575	-0.76;-0.72	3.76	1.38	0.22167	.	642.914000	0.00397	U	0.000058	T	0.74604	0.3738	L	0.56769	1.78	0.29993	N	0.816683	P;P	0.44946	0.736;0.846	B;P	0.44946	0.28;0.465	T	0.60480	-0.7255	10	0.72032	D	0.01	-2.3731	5.1258	0.14884	0.1172:0.0:0.6802:0.2026	.	14;14	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	F	14	ENSP00000301187:S14F;ENSP00000365776:S14F	ENSP00000301187:S14F	S	-	2	0	TMC4	59368584	0.004000	0.15560	0.005000	0.12908	0.198000	0.23893	0.858000	0.27845	0.280000	0.22209	0.462000	0.41574	TCC	TMC4	-	NULL	ENSG00000167608		0.637	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	46	0.00	0	G			54676772	54676772	-1	no_errors	ENST00000301187	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	0.291	A
ZAN	7455	genome.wustl.edu	37	7	100390155	100390155	+	RNA	SNP	G	G	C	rs374344638		TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr7:100390155G>C	ENST00000348028.3	+	0	8005				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCGGGACCGCACCCTCTGC	0.677																																						dbGAP											0													20.0	23.0	22.0					7																	100390155		2138	4230	6368	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100390155G>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.R2613P	ENST00000348028.3	37	c.7838		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.036598|2.036598	0.35893|0.35893	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546213|ENST00000546292;ENST00000538115;ENST00000542585	T|T;T;T	0.25250|0.75260	1.81|-0.92;-0.92;-0.92	3.24|3.24	-2.86|-2.86	0.05717|0.05717	.|.	.|0.185216	.|0.26616	.|N	.|0.023391	T|T	0.50086|0.50086	0.1595|0.1595	L|L	0.39147|0.39147	1.195|1.195	0.22253|0.22253	N|N	0.999259|0.999259	P|P	0.49447|0.44044	0.924|0.825	B|B	0.43508|0.33295	0.422|0.161	T|T	0.50432|0.50432	-0.8829|-0.8829	8|9	.|.	.|.	.|.	.|.	3.2112|3.2112	0.06684|0.06684	0.4945:0.0:0.3227:0.1828|0.4945:0.0:0.3227:0.1828	.|.	1030|2613	F5GX59|F5H0T8	.|.	P|P	1030|2613	ENSP00000441117:A1030P|ENSP00000445943:R2613P;ENSP00000445091:R2613P;ENSP00000444427:R2613P	.|.	A|R	+|+	1|2	0|0	ZAN|ZAN	100228091|100228091	0.001000|0.001000	0.12720|0.12720	0.938000|0.938000	0.37757|0.37757	0.238000|0.238000	0.25445|0.25445	-0.013000|-0.013000	0.12678|0.12678	-0.441000|-0.441000	0.07201|0.07201	-0.477000|-0.477000	0.04895|0.04895	GCA|CGC	ZAN	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000146839		0.677	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	10	0.00	0	G	NM_003386		100390155	100390155	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	0.995	C
ZBTB43	23099	genome.wustl.edu	37	9	129595094	129595094	+	Silent	SNP	T	T	C			TCGA-BH-A0HO-01A-11W-A050-09	TCGA-BH-A0HO-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	354172e7-3e54-4ec4-88fa-fd7781cc86ae	32f59f61-3335-4cfe-93f3-5931705e312e	g.chr9:129595094T>C	ENST00000373464.4	+	3	570	c.306T>C	c.(304-306)agT>agC	p.S102S	ZBTB43_ENST00000373457.1_Silent_p.S102S|ZBTB43_ENST00000449886.1_Silent_p.S102S	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S102S(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAATTGTTAGTTACTTGACAG	0.433																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	77.0	76.0					9																	129595094		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.306T>C	9.37:g.129595094T>C			Q5JU96	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S102	ENST00000373464.4	37	c.306	CCDS6867.1	9																																																																																			ZBTB43	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000169155		0.433	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	41	0.00	0	T	NM_001135776		129595094	129595094	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	silent	78	34.45	41	SNP	1.000	C
