#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
CEPT1	10390	genome.wustl.edu	37	1	111703576	111703576	+	Intron	DEL	A	A	-	rs571497696	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr1:111703576delA	ENST00000545121.1	+	4	695				CEPT1_ENST00000357172.4_Intron	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTGATTTGGTAAAAAAAAAAA	0.299													|||unknown(HR)	1547	0.308906	0.3056	0.3242	5008	,	,		16440	0.3393		0.3181	False		,,,				2504	0.2618																0								ENSG00000134255																																			CEPT1	SO:0001627	intron_variant	0				HGNC	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.488-201A>-	1.37:g.111703576delA		Somatic	0	21	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q69YJ9|Q9P0Y8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			-	-		0.299	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	protein_coding	OTTHUMT00000034462.2	A	NM_006090			111703576	+1	no_errors	ENST00000480324	ensembl	human	known	74_37	rna	DEL	0.207	-
MFRP	83552	genome.wustl.edu	37	11	119216560	119216560	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr11:119216560G>T	ENST00000530681.1	-	4	494	c.350C>A	c.(349-351)cCc>cAc	p.P117H	MFRP_ENST00000555262.1_Missense_Mutation_p.P117H|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P117H|MFRP_ENST00000360167.4_Missense_Mutation_p.P117H|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	117	Poly-Thr.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ggtgatggtgggggtggtggt	0.657																																																	0								ENSG00000235718						47.0	53.0	51.0					11																	119216560		2199	4295	6494	MFRP	SO:0001583	missense	0			-	HGNC	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.350C>A	11.37:g.119216560G>T	ENSP00000456533:p.Pro117His	Somatic	0	28	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	25	56.14	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P117H	ENST00000530681.1	37	c.350	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679321	0.29783	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.68765	-0.35;-0.35;1.69	4.15	1.07	0.20283	.	1.069120	0.07247	N	0.865284	T	0.52075	0.1712	L	0.34521	1.04	0.09310	N	1	P;B	0.40619	0.724;0.289	B;B	0.40901	0.343;0.06	T	0.34601	-0.9822	10	0.15499	T	0.54	-0.3369	4.9736	0.14129	0.2048:0.1883:0.6069:0.0	.	117;117	B4DHN8;Q9BY79	.;MFRP_HUMAN	H	117	ENSP00000450509:P117H;ENSP00000391664:P117H;ENSP00000353291:P117H	ENSP00000353291:P117H	P	-	2	0	MFRP	118721770	0.001000	0.12720	0.000000	0.03702	0.269000	0.26545	0.125000	0.15749	0.116000	0.18110	-0.311000	0.09066	CCC	-	NULL		0.657	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	protein_coding	OTTHUMT00000415179.1	G	NM_031433	-		119216560	-1	no_errors	ENST00000449574	ensembl	human	known	74_37	missense	SNP	0.000	T
AOX2P	344454	genome.wustl.edu	37	2	201619595	201619595	+	IGR	SNP	A	A	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:201619595A>T								AC007163.3 (19695 upstream) : AOX2P (7435 downstream)																							CCTTTGAAAAAGTCGACCAAA	0.383																																																	0								ENSG00000243478																																			AOX2P	SO:0001628	intergenic_variant	0			-	HGNC																													2.37:g.201619595A>T		Somatic	0	36	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		2																																																																																			-	-	0	0.383					AOX2P			A		-		201619595	+1	no_errors	ENST00000470911	ensembl	human	known	74_37	rna	SNP	0.000	T
TEX13A	56157	genome.wustl.edu	37	X	104464405	104464405	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:104464405C>T	ENST00000413579.1	-	3	584	c.473G>A	c.(472-474)gGg>gAg	p.G158E	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G158E|TEX13A_ENST00000372578.3_Missense_Mutation_p.G158E|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	158							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCTGGCCACCCTGCCCCCTG	0.652																																																	0								ENSG00000133149						18.0	21.0	20.0					X																	104464405		2009	4027	6036	TEX13A	SO:0001583	missense	0			-	HGNC	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.473G>A	X.37:g.104464405C>T	ENSP00000399753:p.Gly158Glu	Somatic	0	27	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B1B1G8|Q32NB6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.G158E	ENST00000413579.1	37	c.473		X	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.899462	0.00517	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.89	-5.78	0.02362	.	2.680480	0.01965	N	0.043616	T	0.09158	0.0226	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.23619	-1.0183	8	0.02654	T	1	.	1.0845	0.01650	0.1727:0.2947:0.3272:0.2054	.	158;158	C9JWK0;Q9BXU3	.;TX13A_HUMAN	E	158	.	ENSP00000361656:G158E	G	-	2	0	TEX13A	104351061	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.679000	0.05203	-1.507000	0.01803	-0.558000	0.04189	GGG	-	NULL		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	protein_coding		C	NM_031274	-		104464405	-1	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	SNP	0.000	T
LRRC75A	388341	genome.wustl.edu	37	17	16344167	16344167	+	IGR	DEL	A	A	-	rs112317984|rs555182592	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:16344167delA	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						actccatctcaaaaaaaaaaa	0.413																																																	0								ENSG00000266651																																			RP11-138I1.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene																													17.37:g.16344167delA		Somatic	0	12	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000409083.3	37	NULL	CCDS11178.2	17																																																																																			-	-		0.413	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	ENSG00000266651	protein_coding	OTTHUMT00000130461.2	A				16344167	-1	no_errors	ENST00000585048	ensembl	human	known	74_37	rna	DEL	0.000	-
DAAM1	23002	genome.wustl.edu	37	14	59827519	59827519	+	Splice_Site	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr14:59827519G>A	ENST00000395125.1	+	22	2686		c.e22-1		DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATTTACAACAGCATGACTGAG	0.343																																																	0								ENSG00000100592						148.0	134.0	139.0					14																	59827519		2203	4300	6503	DAAM1	SO:0001630	splice_region_variant	0			-	HGNC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2664-1G>A	14.37:g.59827519G>A		Somatic	0	44	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e22-1	ENST00000395125.1	37	c.2664-1	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353763	0.82243	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM1	58897272	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.469000	0.97679	2.873000	0.98535	0.563000	0.77884	.	-	-		0.343	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	protein_coding	OTTHUMT00000276942.2	G	NM_014992	-	Intron	59827519	+1	no_errors	ENST00000351081	ensembl	human	known	74_37	splice_site	SNP	1.000	A
PNCK	139728	genome.wustl.edu	37	X	152938410	152938411	+	Intron	DEL	AC	AC	-	rs201978519|rs10542443		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:152938410_152938411delAC	ENST00000370150.1	-	2	247				PNCK_ENST00000340888.3_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000393831.2_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					tcacacaggtacacacacacac	0.55																																																	0								ENSG00000130822																																			PNCK	SO:0001627	intron_variant	0				HGNC	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.68+52GT>-	X.37:g.152938420_152938421delAC		Somatic	0	27	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000370150.1	37	NULL		X																																																																																			-	-		0.550	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	protein_coding	OTTHUMT00000061044.2	AC	NM_198452			152938411	-1	no_errors	ENST00000462280	ensembl	human	putative	74_37	rna	DEL	0.001:0.002	-
WASH3P	374666	genome.wustl.edu	37	15	102506815	102506816	+	RNA	DEL	CC	CC	-	rs151176585		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr15:102506815_102506816delCC	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						tacctctccacctggagcgcac	0.421																																																	0								ENSG00000185596																																			WASH3P			0				HGNC			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506815_102506816delCC		Somatic	0	11	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			-	-		0.421	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	pseudogene	OTTHUMT00000417608.1	CC	NM_199163			102506816	+1	no_errors	ENST00000559884	ensembl	human	known	74_37	rna	DEL	0.000:0.000	-
PPARA	5465	genome.wustl.edu	37	22	46594478	46594478	+	Silent	SNP	G	G	C	rs369963518		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr22:46594478G>C	ENST00000396000.2	+	3	463	c.198G>C	c.(196-198)tcG>tcC	p.S66S	PPARA_ENST00000402126.1_Silent_p.S66S|PPARA_ENST00000407236.1_Silent_p.S66S|PPARA_ENST00000262735.5_Silent_p.S66S|PPARA_ENST00000434345.2_Silent_p.S66S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	66					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAGATGGCTCGGTCATCACGG	0.403																																																	0								ENSG00000186951						63.0	67.0	66.0					22																	46594478		2203	4300	6503	PPARA	SO:0001819	synonymous_variant	0			-	HGNC	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.198G>C	22.37:g.46594478G>C		Somatic	0	51	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S66	ENST00000396000.2	37	c.198	CCDS33669.1	22																																																																																			-	prints_1Cnucl_rcpt_A		0.403	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	protein_coding	OTTHUMT00000318129.3	G	NM_001001928	-		46594478	+1	no_errors	ENST00000262735	ensembl	human	known	74_37	silent	SNP	0.032	C
GTF3C2	2976	genome.wustl.edu	37	2	27560375	27560375	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:27560375G>T	ENST00000359541.2	-	6	1430	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000608473.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A334D|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	334					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTTCCAGGCTAAAGGAAT	0.478																																																	0								ENSG00000115207						77.0	72.0	73.0					2																	27560375		2203	4300	6503	GTF3C2	SO:0001583	missense	0			-	HGNC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1001C>A	2.37:g.27560375G>T	ENSP00000352536:p.Ala334Asp	Somatic	0	40	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A334D	ENST00000359541.2	37	c.1001	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.124172	0.94429	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.74315	-0.83;-0.83	5.79	5.79	0.91817	.	0.229658	0.44688	D	0.000426	T	0.80042	0.4551	L	0.29908	0.895	0.52099	D	0.999941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.963;0.999	T	0.78770	-0.2074	10	0.40728	T	0.16	-14.528	17.5436	0.87855	0.0:0.0:1.0:0.0	.	334;334;334	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	D	334	ENSP00000352536:A334D;ENSP00000264720:A334D	ENSP00000264720:A334D	A	-	2	0	GTF3C2	27413879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.450000	0.44943	2.753000	0.94483	0.557000	0.71058	GCC	-	NULL		0.478	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	protein_coding	OTTHUMT00000215028.2	G		-		27560375	-1	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	SNP	1.000	T
ATP2A3	489	genome.wustl.edu	37	17	3854655	3854655	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:3854655G>T	ENST00000352011.3	-	5	407	c.353C>A	c.(352-354)gCc>gAc	p.A118D	ATP2A3_ENST00000359983.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A118D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A118D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	118					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTCCTTCAGGGCCTCGATGGC	0.637																																					GBM(32;29 774 15719 37967)												0								ENSG00000074370						69.0	60.0	63.0					17																	3854655		2203	4300	6503	ATP2A3	SO:0001583	missense	0			-	HGNC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.353C>A	17.37:g.3854655G>T	ENSP00000301387:p.Ala118Asp	Somatic	0	23	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A118D	ENST00000352011.3	37	c.353	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247568	0.80024	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	3.56	2.57	0.30868	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.998;0.98;0.988;0.98;0.98;0.98	D	0.96861	0.9632	10	0.87932	D	0	.	12.8983	0.58111	0.0:0.1652:0.8348:0.0	.	118;118;118;118;118;118	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	118	ENSP00000380236:A118D;ENSP00000301387:A118D;ENSP00000353072:A118D;ENSP00000380234:A118D;ENSP00000312577:A118D;ENSP00000380229:A118D	ENSP00000312577:A118D	A	-	2	0	ATP2A3	3801404	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.246000	0.95438	1.055000	0.40461	0.407000	0.27541	GCC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase		0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	G	NM_174953	-		3854655	-1	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	SNP	1.000	T
PDLIM5	10611	genome.wustl.edu	37	4	95504021	95504022	+	Intron	INS	-	-	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr4:95504021_95504022insT	ENST00000317968.4	+	6	846				PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CATAAGAAGCATTTTTTTTTAT	0.282																																																	0								ENSG00000163110																																			PDLIM5	SO:0001627	intron_variant	0				HGNC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.711-2694->T	4.37:g.95504030_95504030dupT		Somatic	0	32	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000317968.4	37	NULL	CCDS3641.1	4																																																																																			-	-		0.282	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	protein_coding	OTTHUMT00000253586.1	-				95504022	+1	no_errors	ENST00000508531	ensembl	human	known	74_37	rna	INS	0.000:0.018	T
DNM1P47	100216544	genome.wustl.edu	37	15	102297549	102297549	+	RNA	SNP	A	A	C	rs71260650		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr15:102297549A>C	ENST00000561463.1	+	0	5595									DNM1 pseudogene 47																		CGGAACCTGCAGACACTCGTG	0.572																																																	0								ENSG00000259660																																			DNM1P47			0			-	HGNC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102297549A>C		Somatic	0	12	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	-		0.572	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	A	NG_009149	rs71260650		102297549	+1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	SNP	0.917	C
LINC00271	100131814	genome.wustl.edu	37	6	135956846	135956848	+	lincRNA	DEL	AAC	AAC	-	rs201741438	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	AAC	AAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr6:135956846_135956848delAAC	ENST00000421378.2	+	0	147					NR_026805.1		P0C7V0	CF217_HUMAN	long intergenic non-protein coding RNA 271																		CAGTTATCAAAACAACAATTATT	0.296														66	0.0131789	0.0008	0.0303	5008	,	,		15042	0.0		0.0249	False		,,,				2504	0.0194																0								ENSG00000231028																																			LINC00271			0				HGNC			6q23.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000231028	ENSG00000231028		"""Long non-coding RNAs"""	32526	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 217"", ""non-protein coding RNA 271"""	C6orf217, NCRNA00271			Standard	NR_026805		Approved		uc010kgm.2	P0C7V0	OTTHUMG00000015632		6.37:g.135956849_135956851delAAC		Somatic	0	10	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000421378.2	37	NULL		6																																																																																			-	-		0.296	LINC00271-003	KNOWN	basic|exp_conf	lincRNA	LINC00271	lincRNA	OTTHUMT00000443467.1	AAC	NR_026805			135956848	+1	no_errors	ENST00000438618	ensembl	human	known	74_37	rna	DEL	0.995:0.991:0.520	-
KIAA0430	9665	genome.wustl.edu	37	16	15696497	15696498	+	Intron	INS	-	-	C	rs370453498|rs546564067|rs528582430	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr16:15696497_15696498insC	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.P1108fs|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						gaaggaagaggagaaagaaAAG	0.431																																																	0								ENSG00000166783																																			KIAA0430	SO:0001627	intron_variant	0				HGNC	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-437->G	16.37:g.15696497_15696498insC		Somatic	0	10	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1107fs	ENST00000396368.3	37	c.3322_3321	CCDS10562.2	16																																																																																			-	NULL		0.431	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	-	NM_014647			15696498	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	INS	0.001:0.000	C
COL5A3	50509	genome.wustl.edu	37	19	10091766	10091766	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:10091766G>C	ENST00000264828.3	-	33	2588	c.2503C>G	c.(2503-2505)Cca>Gca	p.P835A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	835	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCTTACTGGTGGTCCCCGC	0.542																																																	0								ENSG00000080573						109.0	89.0	96.0					19																	10091766		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2503C>G	19.37:g.10091766G>C	ENSP00000264828:p.Pro835Ala	Somatic	0	36	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	Q9NZQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P835A	ENST00000264828.3	37	c.2503	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367498	0.24771	.	.	ENSG00000080573	ENST00000264828	D	0.83335	-1.71	4.81	3.7	0.42460	.	0.262006	0.31989	N	0.006759	T	0.79137	0.4395	L	0.38733	1.17	0.34653	D	0.72185	D	0.55605	0.972	P	0.51615	0.675	T	0.80339	-0.1424	10	0.25106	T	0.35	.	9.5791	0.39477	0.0:0.0:0.6611:0.3389	.	835	P25940	CO5A3_HUMAN	A	835	ENSP00000264828:P835A	ENSP00000264828:P835A	P	-	1	0	COL5A3	9952766	1.000000	0.71417	0.911000	0.35937	0.823000	0.46562	3.637000	0.54324	2.220000	0.72140	0.313000	0.20887	CCA	-	NULL		0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10091766	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.997	C
TRPV4	59341	genome.wustl.edu	37	12	110224582	110224582	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:110224582G>A	ENST00000418703.2	-	13	2363	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	TRPV4_ENST00000392719.2_Missense_Mutation_p.R710C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCCCAGAGCGGAAGGCCTTC	0.662																																																	0								ENSG00000111199						90.0	66.0	74.0					12																	110224582		2203	4300	6503	TRPV4	SO:0001583	missense	0			-	HGNC	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2269C>T	12.37:g.110224582G>A	ENSP00000406191:p.Arg757Cys	Somatic	0	58	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.63	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R757C	ENST00000418703.2	37	c.2269	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.997	D	0.95905	0.8918	10	0.87932	D	0	-31.3539	16.8762	0.86052	0.0:0.0:1.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	757;757;710;697;650;697;710;723	ENSP00000406191:R757C;ENSP00000261740:R757C;ENSP00000376480:R710C;ENSP00000319003:R697C;ENSP00000443611:R650C;ENSP00000442738:R697C;ENSP00000442167:R710C;ENSP00000444336:R723C	ENSP00000261740:R757C	R	-	1	0	TRPV4	108708965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.827000	0.69300	2.645000	0.89757	0.655000	0.94253	CGC	-	tigrfam_TRP_channel		0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	protein_coding	OTTHUMT00000403270.1	G	NM_021625	-		110224582	-1	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	SNP	1.000	A
ANAPC2	29882	genome.wustl.edu	37	9	140074930	140074930	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr9:140074930T>C	ENST00000323927.2	-	9	1664	c.1660A>G	c.(1660-1662)Atg>Gtg	p.M554V		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	554					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CAGAAGTGCATTGGGGCCTCG	0.672																																																	0								ENSG00000176248						65.0	71.0	69.0					9																	140074930		2203	4300	6503	ANAPC2	SO:0001583	missense	0			-	HGNC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1660A>G	9.37:g.140074930T>C	ENSP00000314004:p.Met554Val	Somatic	0	37	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.M554V	ENST00000323927.2	37	c.1660	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984902	0.74474	.	.	ENSG00000176248	ENST00000323927	T	0.73047	-0.71	5.33	5.33	0.75918	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.82193	2.58	0.80722	D	1	P;P	0.44578	0.838;0.806	P;B	0.46144	0.505;0.372	T	0.81206	-0.1038	10	0.66056	D	0.02	-39.7877	13.2199	0.59881	0.0:0.0:0.0:1.0	.	554;551	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	V	554	ENSP00000314004:M554V	ENSP00000314004:M554V	M	-	1	0	ANAPC2	139194751	1.000000	0.71417	0.904000	0.35570	0.837000	0.47467	3.644000	0.54381	2.009000	0.58944	0.379000	0.24179	ATG	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.672	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	protein_coding	OTTHUMT00000055315.1	T	NM_013366	-		140074930	-1	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	SNP	0.995	C
SATB2	23314	genome.wustl.edu	37	2	200213845	200213845	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:200213845C>T	ENST00000417098.1	-	7	1568	c.752G>A	c.(751-753)cGt>cAt	p.R251H	SATB2_ENST00000260926.5_Missense_Mutation_p.R251H|SATB2_ENST00000457245.1_Missense_Mutation_p.R251H|SATB2_ENST00000443023.1_Missense_Mutation_p.R192H|SATB2_ENST00000428695.1_Missense_Mutation_p.R133H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	251					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGCATTGGACGCTGGCCCAG	0.413																																					Colon(30;262 767 11040 24421 36230)												0								ENSG00000119042						138.0	124.0	129.0					2																	200213845		2203	4300	6503	SATB2	SO:0001583	missense	0			-	HGNC	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.752G>A	2.37:g.200213845C>T	ENSP00000401112:p.Arg251His	Somatic	0	116	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	94	18.26	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R251H	ENST00000417098.1	37	c.752	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869393	0.51588	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.143132	0.46442	D	0.000290	T	0.44685	0.1305	N	0.08118	0	0.38184	D	0.939698	B;D	0.69078	0.291;0.997	B;P	0.56865	0.02;0.808	T	0.46721	-0.9171	10	0.23891	T	0.37	-9.9323	19.692	0.96007	0.0:1.0:0.0:0.0	.	133;251	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	251;192;251;133;251	ENSP00000401112:R251H;ENSP00000388764:R192H;ENSP00000260926:R251H;ENSP00000388581:R133H;ENSP00000405420:R251H	ENSP00000260926:R251H	R	-	2	0	SATB2	199922090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.735000	0.93741	0.655000	0.94253	CGT	-	NULL		0.413	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	protein_coding	OTTHUMT00000256140.1	C	NM_015265	-		200213845	-1	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF880	400713	genome.wustl.edu	37	19	52887558	52887558	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:52887558G>A	ENST00000422689.2	+	4	740	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	242					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CCTTACAAGTGTCATGAATGT	0.388																																																	0								ENSG00000221923						39.0	37.0	37.0					19																	52887558		1568	3582	5150	ZNF880	SO:0001583	missense	0			-	HGNC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.725G>A	19.37:g.52887558G>A	ENSP00000406318:p.Cys242Tyr	Somatic	0	32	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B4DNA6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C242Y	ENST00000422689.2	37	c.725	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042884	0.19748	.	.	ENSG00000221923	ENST00000422689	D	0.85088	-1.94	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94105	0.8110	H	0.96015	3.755	0.27972	N	0.936389	D	0.89917	1.0	D	0.97110	1.0	D	0.86479	0.1790	8	.	.	.	.	11.0678	0.47985	0.0:0.0:1.0:0.0	.	242	Q6PDB4	ZN880_HUMAN	Y	242	ENSP00000406318:C242Y	.	C	+	2	0	ZNF880	57579370	1.000000	0.71417	0.052000	0.19188	0.115000	0.19883	7.322000	0.79097	1.110000	0.41699	0.551000	0.68910	TGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	protein_coding	OTTHUMT00000397374.1	G	NM_001145434	-		52887558	+1	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	SNP	0.735	A
KIAA0430	9665	genome.wustl.edu	37	16	15696492	15696493	+	Intron	INS	-	-	G	rs61282123|rs75196653		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr16:15696492_15696493insG	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.L1109fs|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ggaaagaaggaagaggagaaag	0.421																																																	0								ENSG00000166783																																			KIAA0430	SO:0001627	intron_variant	0				HGNC	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-432->C	16.37:g.15696492_15696493insG		Somatic	0	10	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1110fs	ENST00000396368.3	37	c.3327_3326	CCDS10562.2	16																																																																																			-	NULL		0.421	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	-	NM_014647			15696493	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	INS	0.001:0.000	G
AP2A1	160	genome.wustl.edu	37	19	50303239	50303239	+	Silent	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:50303239C>T	ENST00000359032.5	+	11	1287	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	AP2A1_ENST00000354293.5_Silent_p.A429A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	429					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGAAGGTGGCCATCCTGGCCG	0.627																																																	0								ENSG00000196961						68.0	75.0	72.0					19																	50303239		2120	4238	6358	AP2A1	SO:0001819	synonymous_variant	0			-	HGNC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1287C>T	19.37:g.50303239C>T		Somatic	0	40	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A429	ENST00000359032.5	37	c.1287	CCDS46148.1	19																																																																																			-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.627	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	protein_coding	OTTHUMT00000465809.1	C		-		50303239	+1	no_errors	ENST00000354293	ensembl	human	known	74_37	silent	SNP	1.000	T
KLHL6	89857	genome.wustl.edu	37	3	183211912	183211912	+	Silent	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr3:183211912G>A	ENST00000341319.3	-	5	1340	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	435					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.I435I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACATTGTTGATTCTCTGTA	0.453																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000172578						256.0	239.0	245.0					3																	183211912		2203	4300	6503	KLHL6	SO:0001819	synonymous_variant	0			-	HGNC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1305C>T	3.37:g.183211912G>A		Somatic	0	51	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I435	ENST00000341319.3	37	c.1305	CCDS3245.2	3																																																																																			-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	protein_coding	OTTHUMT00000309024.1	G	NM_130446	-		183211912	-1	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	SNP	1.000	A
RBMXL3	139804	genome.wustl.edu	37	X	114425571	114425571	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:114425571G>A	ENST00000424776.3	+	1	1609	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	523	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						TGCCAACAGCGGAGGCCGTTC	0.627																																																	0								ENSG00000175718						32.0	35.0	34.0					X																	114425571		692	1591	2283	RBMXL3	SO:0001583	missense	0			-	HGNC	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1567G>A	X.37:g.114425571G>A	ENSP00000417451:p.Gly523Arg	Somatic	0	98	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	81	25.69	B4DXC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G523R	ENST00000424776.3	37	c.1567	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680722	0.29872	.	.	ENSG00000175718	ENST00000424776	T	0.07800	3.16	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.21553	N	0.999645	D	0.89917	1.0	D	0.83275	0.996	T	0.27673	-1.0067	9	0.87932	D	0	.	3.6466	0.08187	2.0E-4:0.4946:0.505:2.0E-4	.	523	Q8N7X1	RMXL3_HUMAN	R	523	ENSP00000417451:G523R	ENSP00000417451:G523R	G	+	1	0	RBMXL3	114331827	0.010000	0.17322	0.039000	0.18376	0.039000	0.13416	0.581000	0.23819	0.122000	0.18314	0.124000	0.15798	GGA	-	NULL		0.627	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	protein_coding	OTTHUMT00000057968.3	G	NM_001145346	-		114425571	+1	no_errors	ENST00000424776	ensembl	human	known	74_37	missense	SNP	0.935	A
FOXD4L1	200350	genome.wustl.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC	rs369535331|rs557578751	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(226-228)ggc>GGCggc	p.76_76G>GG		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708														163	0.0325479	0.0045	0.0403	5008	,	,		10259	0.0942		0.006	False		,,,				2504	0.0286																1	Substitution - Missense(1)	breast(1)						ENSG00000184492																																			FOXD4L1	SO:0001652	inframe_insertion	0				HGNC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.232_234dupGGC	2.37:g.114257065_114257067dupGGC	ENSP00000302756:p.Gly78dup	Somatic	0	9	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	B3KWN1|B9EGF3	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.78in_frame_insG	ENST00000306507.5	37	c.225_226	CCDS2117.1	2																																																																																			-	NULL		0.708	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	protein_coding	OTTHUMT00000254148.1	-	NM_012184			114257059	+1	no_errors	ENST00000306507	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.003	GGC
MARCH7	64844	genome.wustl.edu	37	2	160585652	160585652	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:160585652G>T	ENST00000259050.4	+	2	241	c.119G>T	c.(118-120)aGa>aTa	p.R40I	MARCH7_ENST00000539065.1_Missense_Mutation_p.R40I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R40I|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	40	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TATCACTCAAGAGACTCTTCA	0.373																																																	0								ENSG00000136536						66.0	67.0	67.0					2																	160585652		2203	4300	6503	MARCH7	SO:0001583	missense	0			-	HGNC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.119G>T	2.37:g.160585652G>T	ENSP00000259050:p.Arg40Ile	Somatic	0	56	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R40I	ENST00000259050.4	37	c.119	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503099	0.64298	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037	T;T;T;T	0.55930	1.94;2.03;1.94;0.49	5.9	5.9	0.94986	.	0.047973	0.85682	D	0.000000	T	0.71542	0.3352	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.72462	-0.4286	10	0.87932	D	0	-3.1666	18.0481	0.89338	0.0:0.0:1.0:0.0	.	40;40	F5H6W4;Q9H992	.;MARH7_HUMAN	I	40	ENSP00000386830:R40I;ENSP00000442992:R40I;ENSP00000259050:R40I;ENSP00000392862:R40I	ENSP00000259050:R40I	R	+	2	0	MARCH7	160293898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.924000	0.70054	2.800000	0.96347	0.455000	0.32223	AGA	-	NULL		0.373	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	G	NM_022826	-		160585652	+1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	SNP	1.000	T
SREBF1	6720	genome.wustl.edu	37	17	17722392	17722392	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:17722392A>G	ENST00000261646.5	-	5	1187	c.1003T>C	c.(1003-1005)Tac>Cac	p.Y335H	SREBF1_ENST00000355815.4_Missense_Mutation_p.Y365H|SREBF1_ENST00000435530.2_Missense_Mutation_p.Y335H|SREBF1_ENST00000395757.1_Missense_Mutation_p.Y81H|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.Y335H	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	335	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGGAGCGGTAGCGCTTCTCA	0.617																																																	0								ENSG00000072310						98.0	91.0	93.0					17																	17722392		2203	4300	6503	SREBF1	SO:0001583	missense	0			-	HGNC	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1003T>C	17.37:g.17722392A>G	ENSP00000261646:p.Tyr335His	Somatic	0	58	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Y365H	ENST00000261646.5	37	c.1093	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.96|14.96	2.690747|2.690747	0.48097|0.48097	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|D;D;D;D;D	.|0.98178	.|-4.77;-4.77;-4.77;-4.77;-4.77	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Helix-loop-helix DNA-binding (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99180|0.99180	0.9716|0.9716	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.999	D|D	0.99164|0.99164	1.0862|1.0862	5|10	.|0.87932	.|D	.|0	-5.6582|-5.6582	13.6947|13.6947	0.62569|0.62569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|335;311;335;365	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	P|H	342|335;365;335;81;172;261;335	.|ENSP00000345822:Y335H;ENSP00000348069:Y365H;ENSP00000261646:Y335H;ENSP00000379106:Y81H;ENSP00000413389:Y335H	.|ENSP00000261646:Y335H	L|Y	-|-	2|1	0|0	SREBF1|SREBF1	17663117|17663117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.134000|9.134000	0.94467|0.94467	1.707000|1.707000	0.51288|0.51288	0.459000|0.459000	0.35465|0.35465	CTA|TAC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	A	NM_004176	-		17722392	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	SNP	1.000	G
B4GALNT1	2583	genome.wustl.edu	37	12	58022646	58022646	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:58022646C>A	ENST00000341156.4	-	8	1436	c.852G>T	c.(850-852)aaG>aaT	p.K284N	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.K229N|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.K251N	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	284					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGAAGGTCTTGGTGGCAA	0.577																																																	0								ENSG00000135454						84.0	77.0	80.0					12																	58022646		2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.852G>T	12.37:g.58022646C>A	ENSP00000341562:p.Lys284Asn	Somatic	0	80	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	658	8.34	B4DE26|Q8N636	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.K284N	ENST00000341156.4	37	c.852	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	24.3	4.518128	0.85495	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.61274	0.12;0.12	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.051303	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.97110	0.975;0.911;1.0	T	0.82462	-0.0445	10	0.72032	D	0.01	-12.1872	10.8265	0.46635	0.0:0.9128:0.0:0.0872	.	251;229;284	B4DSP5;B4DE26;Q00973	.;.;B4GN1_HUMAN	N	284;229	ENSP00000341562:K284N;ENSP00000401601:K229N	ENSP00000341562:K284N	K	-	3	2	B4GALNT1	56308913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.282000	0.33226	2.640000	0.89533	0.655000	0.94253	AAG	-	pfam_Glyco_trans_2,pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	C	NM_001478	-		58022646	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF479	90827	genome.wustl.edu	37	7	57188683	57188683	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr7:57188683G>T	ENST00000331162.4	-	5	709	c.439C>A	c.(439-441)Caa>Aaa	p.Q147K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GACAAACATTGGTTAACTTCA	0.303																																																	0								ENSG00000185177						91.0	85.0	87.0					7																	57188683		1857	4112	5969	ZNF479	SO:0001583	missense	0			-	HGNC	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.439C>A	7.37:g.57188683G>T	ENSP00000333776:p.Gln147Lys	Somatic	0	119	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	83	27.83		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q147K	ENST00000331162.4	37	c.439	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	11.38	1.622934	0.28889	.	.	ENSG00000185177	ENST00000331162	T	0.37584	1.19	1.6	1.6	0.23607	.	.	.	.	.	T	0.44726	0.1307	L	0.45137	1.4	0.09310	N	1	D	0.54964	0.969	D	0.64877	0.93	T	0.16041	-1.0416	9	0.51188	T	0.08	.	6.5504	0.22431	0.0:0.0:1.0:0.0	.	147	Q96JC4	ZN479_HUMAN	K	147	ENSP00000333776:Q147K	ENSP00000333776:Q147K	Q	-	1	0	ZNF479	57192625	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-0.180000	0.09754	0.867000	0.35654	0.400000	0.26472	CAA	-	NULL		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	protein_coding	OTTHUMT00000345302.1	G	XM_291202	-		57188683	-1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	SNP	0.046	T
RAB9B	51209	genome.wustl.edu	37	X	103080614	103080614	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:103080614G>T	ENST00000243298.2	-	3	385	c.101C>A	c.(100-102)tCc>tAc	p.S34Y		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	34					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						AAAAGCCTGGGAGTCAAATTT	0.473																																																	0								ENSG00000123570						116.0	107.0	110.0					X																	103080614		2203	4300	6503	RAB9B	SO:0001583	missense	0			-	HGNC	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.101C>A	X.37:g.103080614G>T	ENSP00000243298:p.Ser34Tyr	Somatic	0	36	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2R8M0|Q52LX2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S34Y	ENST00000243298.2	37	c.101	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891399	0.72524	.	.	ENSG00000123570	ENST00000243298	T	0.78003	-1.14	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	L	0.35793	1.09	0.80722	D	1	D	0.53745	0.962	P	0.59424	0.857	T	0.83259	-0.0049	10	0.72032	D	0.01	-23.3812	16.5572	0.84488	0.0:0.0:1.0:0.0	.	34	Q9NP90	RAB9B_HUMAN	Y	34	ENSP00000243298:S34Y	ENSP00000243298:S34Y	S	-	2	0	RAB9B	102967270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.518000	0.84900	0.600000	0.82982	TCC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.473	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	protein_coding	OTTHUMT00000057746.1	G		-		103080614	-1	no_errors	ENST00000243298	ensembl	human	known	74_37	missense	SNP	1.000	T
AC026700.1	0	genome.wustl.edu	37	5	84823865	84823876	+	RNA	DEL	TGTGTGTGTGTG	TGTGTGTGTGTG	-	rs3101111|rs201146846|rs145369997		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	TGTGTGTGTGTG	TGTGTGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr5:84823865_84823876delTGTGTGTGTGTG	ENST00000401134.1	-	0	76_87																											TATAtgtatatgtgtgtgtgtgtgtgtgtgtg	0.34																																																	0								ENSG00000215953																																			AC026700.1			0				Clone_based_ensembl_gene																													5.37:g.84823865_84823876delTGTGTGTGTGTG		Somatic	NA	NA	NA		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401134.1	37	NULL		5																																																																																			-	-		0.340	AC026700.1-201	NOVEL	basic	miRNA	ENSG00000215953	miRNA		TGTGTGTGTGTG				84823876	-1	no_errors	ENST00000401134	ensembl	human	novel	74_37	rna	DEL	0.004:0.002:0.002:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001	-
PRRC1	133619	genome.wustl.edu	37	5	126859274	126859274	+	Splice_Site	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr5:126859274G>T	ENST00000296666.8	+	2	291	c.103G>T	c.(103-105)Gcg>Tcg	p.A35S	PRRC1_ENST00000442138.2_Splice_Site_p.A35S|PRRC1_ENST00000512635.2_Splice_Site_p.A35S	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	35	Pro-rich.					Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TGTTCCATTAGGTACATGTAG	0.413																																																	0								ENSG00000164244						143.0	116.0	125.0					5																	126859274		2203	4300	6503	PRRC1	SO:0001630	splice_region_variant	0			-	HGNC	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.103+1G>T	5.37:g.126859274G>T		Somatic	0	70	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NTPase/PRRC1	p.A35S	ENST00000296666.8	37	c.103	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123072	0.56613	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	4.77	4.77	0.60923	.	0.262538	0.36519	N	0.002553	T	0.58680	0.2139	L	0.29908	0.895	0.42662	D	0.993488	P;D	0.60160	0.888;0.987	B;P	0.56088	0.287;0.791	T	0.57400	-0.7818	9	0.37606	T	0.19	-23.2415	15.0116	0.71555	0.0:0.0:1.0:0.0	.	35;35	Q96M27;Q96M27-5	PRRC1_HUMAN;.	S	35	.	ENSP00000296666:A35S	A	+	1	0	PRRC1	126887173	1.000000	0.71417	0.890000	0.34922	0.022000	0.10575	6.687000	0.74552	2.630000	0.89119	0.555000	0.69702	GCG	-	NULL		0.413	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	protein_coding	OTTHUMT00000250971.3	G	NM_130809	-	Missense_Mutation	126859274	+1	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	SNP	0.992	T
RP11-640M9.2	0	genome.wustl.edu	37	1	144598744	144598744	+	RNA	SNP	C	C	T	rs372140203	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr1:144598744C>T	ENST00000419820.1	+	0	672																											CAACCTCACACGGTGTGGGCC	0.542													.|||	3	0.000599042	0.0008	0.0	5008	,	,		51340	0.002		0.0	False		,,,				2504	0.0																0								ENSG00000225241																																			RP11-640M9.2			0			-	Clone_based_vega_gene																													1.37:g.144598744C>T		Somatic	0	42	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000419820.1	37	NULL		1																																																																																			-	-		0.542	RP11-640M9.2-011	KNOWN	basic	processed_transcript	ENSG00000225241	pseudogene	OTTHUMT00000038365.1	C		-		144598744	+1	no_errors	ENST00000419820	ensembl	human	known	74_37	rna	SNP	0.001	T
PKHD1	5314	genome.wustl.edu	37	6	51524066	51524066	+	Missense_Mutation	SNP	G	G	A	rs557405366		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr6:51524066G>A	ENST00000371117.3	-	61	11133	c.10858C>T	c.(10858-10860)Cgc>Tgc	p.R3620C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3620					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3620C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGCAATTGCGCTTTCTTTTT	0.448																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000170927						127.0	126.0	126.0					6																	51524066		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10858C>T	6.37:g.51524066G>A	ENSP00000360158:p.Arg3620Cys	Somatic	0	66	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	26.67	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.R3620C	ENST00000371117.3	37	c.10858	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213687	0.79352	.	.	ENSG00000170927	ENST00000371117	D	0.87029	-2.2	5.92	5.92	0.95590	.	0.347900	0.28279	N	0.015926	D	0.88629	0.6488	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.57846	0.828	D	0.89626	0.3852	10	0.87932	D	0	.	12.5138	0.56019	0.0835:0.0:0.9165:0.0	.	3620	P08F94	PKHD1_HUMAN	C	3620	ENSP00000360158:R3620C	ENSP00000360158:R3620C	R	-	1	0	PKHD1	51632025	0.983000	0.35010	0.999000	0.59377	0.965000	0.64279	4.831000	0.62752	2.801000	0.96364	0.650000	0.86243	CGC	-	NULL		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51524066	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.999	A
CDC27	996	genome.wustl.edu	37	17	45234397	45234397	+	Missense_Mutation	SNP	G	G	A	rs7350908		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:45234397G>A	ENST00000066544.3	-	7	817	c.724C>T	c.(724-726)Cct>Tct	p.P242S	CDC27_ENST00000527547.1_Missense_Mutation_p.P242S|CDC27_ENST00000531206.1_Missense_Mutation_p.P242S|CDC27_ENST00000446365.2_Missense_Mutation_p.P181S|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACAGTATCAGGTGAAATTACA	0.363																																																	0								ENSG00000004897						44.0	48.0	47.0					17																	45234397		2191	4293	6484	CDC27	SO:0001583	missense	0			-	HGNC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.724C>T	17.37:g.45234397G>A	ENSP00000066544:p.Pro242Ser	Somatic	0	52	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P242S	ENST00000066544.3	37	c.724	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407694	0.42715	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67523	-0.26;-0.27;0.01;-0.27;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.26195	0.0;0.014;0.0;0.144	B;B;B;B	0.20955	0.001;0.008;0.001;0.032	T	0.50004	-0.8878	10	0.06099	T	0.92	-16.7932	16.7505	0.85484	0.0:0.0:1.0:0.0	rs7350908;rs52796638;rs7350908	181;242;242;242	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	242;242;181;242;242	ENSP00000066544:P242S;ENSP00000434614:P242S;ENSP00000392802:P181S;ENSP00000437339:P242S;ENSP00000432105:P242S	ENSP00000066544:P242S	P	-	1	0	CDC27	42589396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.555000	0.86185	0.460000	0.39030	CCT	-	NULL		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	protein_coding	OTTHUMT00000389742.2	G		rs7350908		45234397	-1	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	SNP	1.000	A
OPN1MW2	728458	genome.wustl.edu	37	X	153492789	153492789	+	Missense_Mutation	SNP	G	G	T	rs139163406		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:153492789G>T	ENST00000369929.4	+	3	598	c.538G>T	c.(538-540)Gct>Tct	p.A180S	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	180					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGATCTGGGCTGCTGTGTG	0.567																																																	0								ENSG00000166160						1.0	1.0	1.0					X																	153492789		575	867	1442	OPN1MW2	SO:0001583	missense	0			-	HGNC		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.538G>T	X.37:g.153492789G>T	ENSP00000358945:p.Ala180Ser	Somatic	0	11	0.00		0.5721232710713301	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	3	62.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A180S	ENST00000369929.4	37	c.538	CCDS35447.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.004|0.004	-2.252386|-2.252386	0.00268|0.00268	.|.	.|.	ENSG00000166160|ENSG00000166160	ENST00000369929|ENST00000430419	T|.	0.34667|.	1.35|.	2.65|2.65	0.698|0.698	0.18087|0.18087	.|.	0.388144|.	0.28349|.	N|.	0.015679|.	T|T	0.56891|0.56891	0.2016|0.2016	.|.	.|.	.|.	0.48236|0.48236	D|D	0.999611|0.999611	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47873|0.47873	-0.9083|-0.9083	7|4	0.22109|.	T|.	0.4|.	.|.	9.0731|9.0731	0.36504|0.36504	0.0:0.0:0.4436:0.5564|0.0:0.0:0.4436:0.5564	.|.	.|.	.|.	.|.	S|V	180|42	ENSP00000358945:A180S|.	ENSP00000358945:A180S|.	A|G	+|+	1|2	0|0	OPN1MW2|OPN1MW2	153145983|153145983	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.016000|0.016000	0.09150|0.09150	-3.673000|-3.673000	0.00397|0.00397	-0.164000|-0.164000	0.10927|0.10927	-1.182000|-1.182000	0.01712|0.01712	GCT|GGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW2	protein_coding	OTTHUMT00000061149.2	G	NM_001048181	rs139163406		153492789	+1	no_errors	ENST00000369929	ensembl	human	known	74_37	missense	SNP	0.989	T
