#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WFS1	7466	broad.mit.edu	37	4	6302918	6302918	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:6302918G>C	ENST00000226760.1	+	8	1566	c.1396G>C	c.(1396-1398)Ggc>Cgc	p.G466R	WFS1_ENST00000503569.1_Missense_Mutation_p.G466R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	466					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGTCACCGCCGGCCTGCTATC	0.642																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1396-1398)Ggc>Cgc		Wolfram syndrome 1 (wolframin)							90.0	73.0	79.0					4																	6302918		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302918G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1396G>C	4.37:g.6302918G>C	ENSP00000226760:p.Gly466Arg					WFS1_ENST00000503569.1_Missense_Mutation_p.G466R	p.G466R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1566	+			466					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1396G>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.737584	0.30774	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.91180	-2.8;-2.8	4.77	4.77	0.60923	.	0.179901	0.47852	D	0.000204	D	0.94470	0.8220	M	0.73962	2.25	0.48762	D	0.999701	D	0.71674	0.998	D	0.64237	0.923	D	0.95007	0.8148	10	0.62326	D	0.03	-54.7841	16.785	0.85572	0.0:0.0:1.0:0.0	.	466	O76024	WFS1_HUMAN	R	466	ENSP00000423337:G466R;ENSP00000226760:G466R	ENSP00000226760:G466R	G	+	1	0	WFS1	6353819	0.987000	0.35691	0.980000	0.43619	0.041000	0.13682	3.712000	0.54875	2.195000	0.70347	0.457000	0.33378	GGC		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			6	75	0	0	0	0.217242	0	6	75				
AFM	173	broad.mit.edu	37	4	74357625	74357625	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:74357625T>G	ENST00000226355.3	+	8	973	c.880T>G	c.(880-882)Tct>Gct	p.S294A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	294	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAACAAGATTCTATCTCCAG	0.358																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(880-882)Tct>Gct		afamin							78.0	85.0	83.0					4																	74357625		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74357625T>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.880T>G	4.37:g.74357625T>G	ENSP00000226355:p.Ser294Ala						p.S294A	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	973	+	Breast(15;0.00102)		294			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.880T>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	0.906	-0.720690	0.03182	.	.	ENSG00000079557	ENST00000226355	T	0.72051	-0.62	5.06	-0.851	0.10716	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.412269	0.22881	N	0.054519	T	0.47728	0.1461	L	0.37850	1.14	0.20703	N	0.999867	B	0.12630	0.006	B	0.16289	0.015	T	0.14364	-1.0475	10	0.11485	T	0.65	.	2.0179	0.03502	0.1539:0.0887:0.3186:0.4388	.	294	P43652	AFAM_HUMAN	A	294	ENSP00000226355:S294A	ENSP00000226355:S294A	S	+	1	0	AFM	74576489	0.000000	0.05858	0.956000	0.39512	0.123000	0.20343	-1.437000	0.02419	-0.030000	0.13804	-0.718000	0.03613	TCT		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			5	104	0	0	0	0.217242	0	5	104				
SNHG14	104472715	broad.mit.edu	37	15	25448253	25448253	+	RNA	SNP	G	G	A	rs563697803	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr15:25448253G>A	ENST00000424208.1	+	0	2099				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCATCCCGGCGTCCAGCCCCT	0.617													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14769	0.0		0.0	False		,,,				2504	0.0					ENST00000424208.1																			0																																																			0							g.chr15:25448253G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25448253G>A						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2099	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.617	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	51	0	0	0	0.248553	0	7	51				
TMTC1	83857	broad.mit.edu	37	12	29689068	29689068	+	Intron	SNP	T	T	C	rs71450781|rs34867963	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:29689068T>C	ENST00000539277.1	-	11	1844				TMTC1_ENST00000319685.8_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000381224.2_Missense_Mutation_p.Y574C|TMTC1_ENST00000551659.1_Intron	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAATCATTAGTACAAAAATCT	0.308													T|||	85	0.0169728	0.0	0.0591	5008	,	,		17903	0.0089		0.003	False		,,,				2504	0.0327					ENST00000381224.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1720-1722)tAc>tGc		transmembrane and tetratricopeptide repeat containing 1																																				SO:0001627	intron_variant	83857					integral to membrane	binding	g.chr12:29689068T>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1785+73A>G	12.37:g.29689068T>C						TMTC1_ENST00000539277.1_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000551659.1_Intron|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000319685.8_Intron	p.Y574C			Q8IUR5	TMTC1_HUMAN			13	2194	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		0					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1721A>G	CCDS53772.1	26	0.011904761904761904	0	0.0	17	0.04696132596685083	7	0.012237762237762238	2	0.002638522427440633	T	7.782	0.709713	0.15239	.	.	ENSG00000133687	ENST00000381224	T	0.31769	1.48	3.47	1.09	0.20402	.	.	.	.	.	T	0.02342	0.0072	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25606	-1.0127	7	.	.	.	.	4.9804	0.14162	0.0:0.2621:0.0:0.7379	rs34867963	574	Q8IUR5-3	.	C	574	ENSP00000370622:Y574C	.	Y	-	2	0	TMTC1	29580335	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.657000	0.24963	0.125000	0.18397	-0.256000	0.11100	TAC		0.308	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		3	18	0	0	0	0.115264	0	3	18				
SYNE2	23224	broad.mit.edu	37	14	64680925	64680925	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr14:64680925A>G	ENST00000344113.4	+	106	19282	c.19070A>G	c.(19069-19071)gAa>gGa	p.E6357G	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6299G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2742G|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6357G|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2991G|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2742G|SYNE2_ENST00000555022.1_Missense_Mutation_p.E235G|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000554805.1_Missense_Mutation_p.E140G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6357					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGAAGATGAAAAGGAGGCC	0.458																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8224-8226)gAa>gGa		spectrin repeat containing, nuclear envelope 2							84.0	88.0	87.0					14																	64680925		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64680925A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19070A>G	14.37:g.64680925A>G	ENSP00000341781:p.Glu6357Gly					SYNE2_ENST00000555002.1_Missense_Mutation_p.E2991G|SYNE2_ENST00000555022.1_Missense_Mutation_p.E235G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000554805.1_Missense_Mutation_p.E140G|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6299G|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6357G|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6357G|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2742G	p.E2742G			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	107	19369	+			6357					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8225A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672456	0.47781	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.60040	0.31;3.71;0.35;0.22;3.75;3.71;3.43;2.86	5.12	5.12	0.69794	.	0.128180	0.34156	N	0.004218	T	0.74007	0.3660	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.971;0.964;0.993;0.999	T	0.77138	-0.2698	10	0.72032	D	0.01	.	15.0874	0.72165	1.0:0.0:0.0:0.0	.	2742;745;6299;6357;6357	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	G	6357;2742;6357;6299;6305;2991;2742;235;140	ENSP00000350719:E6357G;ENSP00000349969:E2742G;ENSP00000341781:E6357G;ENSP00000452570:E6299G;ENSP00000450831:E2991G;ENSP00000378249:E2742G;ENSP00000451009:E235G;ENSP00000450605:E140G	ENSP00000261678:E6305G	E	+	2	0	SYNE2	63750678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.130000	0.71663	2.152000	0.67230	0.533000	0.62120	GAA		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	103	0	0	0	0.248553	0	7	103				
RP11-24M17.5	0	broad.mit.edu	37	15	76067987	76067987	+	RNA	SNP	A	A	G	rs34243492	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr15:76067987A>G	ENST00000395215.3	+	0	94																											GAAGAAACTCAACAGAGTAAA	0.537													.|||	1247	0.249002	0.149	0.3602	5008	,	,		15530	0.2391		0.3042	False		,,,				2504	0.2587					ENST00000395215.3																			0																																																			0							g.chr15:76067987A>G																													15.37:g.76067987A>G														0	94	+									RNA	SNP	ENST00000395215.3	37			549	0.25137362637362637	74	0.15040650406504066	119	0.3287292817679558	117	0.20454545454545456	239	0.3153034300791557	.	6.719	0.501314	0.12822	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38520	-0.9657	6	0.02654	T	1	.	5.3043	0.15795	0.2401:0.0:0.7599:0.0	rs34243492	18	B4DZE6	.	R	18	.	ENSP00000378641:Q18R	Q	+	2	0	AC019294.2	73855042	1.000000	0.71417	0.718000	0.30602	0.025000	0.11179	3.368000	0.52357	-0.118000	0.11851	-1.680000	0.00737	CAA		0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	31	0	0	0	0.115264	0	3	31				
ZNF235	9310	broad.mit.edu	37	19	44807571	44807571	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr19:44807571C>A	ENST00000291182.4	-	0	89				ZNF235_ENST00000589248.1_De_novo_Start_InFrame|ZNF235_ENST00000589799.1_De_novo_Start_InFrame	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCCCCTCCTCCTTCTGGGAAA	0.438																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29								zinc finger protein 235							85.0	84.0	84.0					19																	44807571		2203	4300	6503			9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44807571C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590			19.37:g.44807571C>A						ZNF235_ENST00000589799.1_De_novo_Start_InFrame|ZNF235_ENST00000589248.1_De_novo_Start_InFrame		NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			0	89	-		Prostate(69;0.0352)|all_neural(266;0.116)						B4DTQ7|O14898|O14899|Q17RR8	Translation_Start_Site	SNP	ENST00000291182.4	37		CCDS33048.1																																																																																				0.438	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			8	92	1	0	0.00307968	0.278610	0.00324177	8	92				
IER3	8870	broad.mit.edu	37	6	30707994	30707994	+	IGR	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr6:30707994C>T	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Missense_Mutation_p.A222T|FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.A174T	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						ATGTCATAGGCGGCCTTCTTC	0.562																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(664-666)Gcc>Acc		flotillin 1							128.0	98.0	109.0					6																	30707994		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707994C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30707994C>T						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.A174T	p.A222T	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			8	884	-			222					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.664G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964862	0.34659	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853	T;T;T;D	0.96073	1.22;1.24;1.22;-3.9	4.74	1.9	0.25705	.	0.393156	0.24922	N	0.034529	D	0.85093	0.5618	L	0.49455	1.56	0.19575	N	0.999966	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.75659	-0.3241	10	0.22706	T	0.39	-16.361	8.0021	0.30304	0.0:0.7125:0.0:0.2875	.	174;222	B4DVY7;O75955	.;FLOT1_HUMAN	T	222;174;159;222;127;222	ENSP00000365569:A222T;ENSP00000394375:A174T;ENSP00000400615:A222T;ENSP00000398834:A222T	ENSP00000365569:A222T	A	-	1	0	FLOT1	30815973	0.057000	0.20700	0.146000	0.22360	0.992000	0.81027	0.570000	0.23653	0.586000	0.29626	0.609000	0.83330	GCC		0.562	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			4	51	0	0	0	0.150653	0	4	51				
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143.0	133.0	136.0					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp					EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			15	56	0	0	0	0.500413	0	15	56				
TMTC1	83857	broad.mit.edu	37	12	29689066	29689066	+	Intron	SNP	A	A	G	rs71450781|rs34676186	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:29689066A>G	ENST00000539277.1	-	11	1844				TMTC1_ENST00000319685.8_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000381224.2_Nonstop_Mutation_p.*575Q|TMTC1_ENST00000551659.1_Intron	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ttAAATCATTAGTACAAAAAT	0.308													A|||	85	0.0169728	0.0	0.0591	5008	,	,		17945	0.0089		0.003	False		,,,				2504	0.0327					ENST00000381224.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1723-1725)Taa>Caa		transmembrane and tetratricopeptide repeat containing 1																																				SO:0001627	intron_variant	83857					integral to membrane	binding	g.chr12:29689066A>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1785+75T>C	12.37:g.29689066A>G						TMTC1_ENST00000539277.1_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000551659.1_Intron|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000319685.8_Intron	p.*575Q			Q8IUR5	TMTC1_HUMAN			13	2196	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		0					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonstop_Mutation	SNP	ENST00000539277.1	37	c.1723T>C	CCDS53772.1	26	0.011904761904761904	0	0.0	17	0.04696132596685083	7	0.012237762237762238	2	0.002638522427440633	A	8.007	0.756710	0.15846	.	.	ENSG00000133687	ENST00000381224	.	.	.	3.34	-3.32	0.04973	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2185	0.01919	0.3708:0.3346:0.1113:0.1833	rs34676186	.	.	.	Q	575	.	.	X	-	1	0	TMTC1	29580333	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.044000	0.03532	-0.697000	0.05092	0.528000	0.53228	TAA		0.308	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		3	18	0	0	0	0.115264	0	3	18				
CDH8	1006	broad.mit.edu	37	16	61687935	61687935	+	Silent	SNP	G	G	A			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr16:61687935G>A	ENST00000577390.1	-	12	2931	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D	CDH8_ENST00000299345.6_Silent_p.D659D|CDH8_ENST00000577730.1_Silent_p.D659D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	659					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTCGAACGTCTTCATCAT	0.393																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1975-1977)gaC>gaT		cadherin 8, type 2							101.0	96.0	97.0					16																	61687935		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687935G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1977C>T	16.37:g.61687935G>A						CDH8_ENST00000299345.6_Silent_p.D659D|CDH8_ENST00000577730.1_Silent_p.D659D	p.D659D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2931	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	659					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1977C>T	CCDS10802.1																																																																																				0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	122	0	0	0	0.335167	0	8	122				
KCNMA1	3778	broad.mit.edu	37	10	79011015	79011015	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr10:79011015C>T	ENST00000286628.8	-	3	540		c.e3-1		KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000286627.5_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.?(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTAAGACAACCTGTAAAAGAA	0.398											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286627.5																			2	Unknown(2)	p.?(2)	lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.e3-1		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116.0	119.0	118.0					10																	79011015		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79011015C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.541-1G>A	10.37:g.79011015C>T			OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1187	KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000286628.8_Splice_Site		NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		3	1493	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)							F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37			.	.	.	.	.	.	.	.	.	.	C	24.0	4.481216	0.84747	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5571	0.87894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78681021	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.314000	0.72848	2.660000	0.90430	0.650000	0.86243	.		0.398	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Intron	3	35	0	0	0	0.150653	0	3	35				
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			2	4						2	4	---	---	---	---
C12orf71	728858	broad.mit.edu	37	12	27234923	27234923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:27234923delC	ENST00000429849.2	-	1	524	c.494delG	c.(493-495)ggcfs	p.G165fs		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	165										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CGGAGGGGAGCCGCTGGATAG	0.423																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(493-495)gcfs		chromosome 12 open reading frame 71							34.0	32.0	32.0					12																	27234923		1859	4118	5977	SO:0001589	frameshift_variant	728858							g.chr12:27234923delC		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.494delG	12.37:g.27234923delC	ENSP00000413728:p.Gly165fs						p.G165fs	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	524	-			165						Frame_Shift_Del	DEL	ENST00000429849.2	37	c.494delG	CCDS44851.1																																																																																				0.423	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		2	4						2	4	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409532	22409540	+	RNA	DEL	TCTCTCTCT	TCTCTCTCT	-	rs374912343|rs371270332|rs200693606|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr14:22409532_22409540delTCTCTCTCT	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctctctctctTTTTTTTTTT	0.411																																						ENST00000390441.2																			0																	1137,2349		133,871,739						0.2	0.0		dbSNP_102	30	2861,4899		379,2103,1398	no	intergenic				512,2974,2137	A1A1,A1R,RR		36.8686,32.6162,35.5504				3998,7248						0							g.chr14:22409532_22409540delTCTCTCTCT	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409532_22409540delTCTCTCTCT														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.411	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		4	2						4	2	---	---	---	---
BACH1	571	broad.mit.edu	37	21	30699014	30699014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr21:30699014delA	ENST00000399921.1	+	3	1112	c.869delA	c.(868-870)gaafs	p.E290fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.E290fs	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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAACCTGAAGAAACGAAGAAA	0.428																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(868-870)gafs		BTB and CNC homology 1, basic leucine zipper transcription factor 1							82.0	84.0	83.0					21																	30699014		2203	4300	6503	SO:0001589	frameshift_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699014delA	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.869delA	21.37:g.30699014delA	ENSP00000382805:p.Glu290fs					BACH1_ENST00000286800.3_Frame_Shift_Del_p.E290fs	p.E290fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1112	+			290					Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	c.869delA	CCDS13585.1																																																																																				0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		13	121						13	121	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	8						7	8	---	---	---	---
