#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_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_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
OR13C5	138799	genome.wustl.edu	37	9	107361256	107361256	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:107361256C>T	ENST00000374779.2	-	1	532	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ATCCAGGACCCAGCTGCCATG	0.473													ENSG00000255800																																					0													116.0	112.0	113.0					9																	107361256		2203	4300	6503	SO:0001583	missense	0			-		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.439G>A	9.37:g.107361256C>T	ENSP00000363911:p.Gly147Arg		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147R	ENST00000374779.2	37	c.439	CCDS35091.1	9	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341942	0.24339	.	.	ENSG00000255800	ENST00000374779	T	0.39592	1.07	4.17	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.219101	0.23100	U	0.051925	T	0.48696	0.1514	M	0.89601	3.045	0.09310	N	1	B	0.15719	0.014	B	0.24394	0.053	T	0.42582	-0.9443	10	0.25106	T	0.35	.	10.8541	0.46789	0.2005:0.7994:0.0:0.0	.	147	Q8NGS8	O13C5_HUMAN	R	147	ENSP00000363911:G147R	ENSP00000363911:G147R	G	-	1	0	OR13C5	106401077	0.000000	0.05858	0.629000	0.29254	0.370000	0.29829	0.876000	0.28092	2.169000	0.68431	0.531000	0.56144	GGG	-	OR13C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2	0	0	0	65	65	53	0.00	0.00	C	NM_001004482		107361256	-1	13	43	36	59	tier1	no_errors	ENST00000374779	ensembl	human	known	74_37	missense	26.53	42.16	SNP	0.012	T	13	36
IL13RA2	3598	genome.wustl.edu	37	X	114248419	114248419	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:114248419C>T	ENST00000371936.1	-	6	683	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IL13RA2_ENST00000243213.1_Missense_Mutation_p.C145Y|IL13RA2_ENST00000468224.1_5'Flank			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	145	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAATATACGCAATCCATATC	0.333													ENSG00000123496																																					0													81.0	74.0	76.0					X																	114248419		2203	4299	6502	SO:0001583	missense	0			-	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.434G>A	X.37:g.114248419C>T	ENSP00000361004:p.Cys145Tyr		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.C145Y	ENST00000371936.1	37	c.434	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691310	0.48097	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.98178	-4.77;-4.77	4.68	4.68	0.58851	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.044737	0.85682	D	0.000000	D	0.98963	0.9647	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99349	1.0914	10	0.87932	D	0	-20.5806	11.8882	0.52615	0.0:1.0:0.0:0.0	.	145;145	D0EFR8;Q14627	.;I13R2_HUMAN	Y	145	ENSP00000361004:C145Y;ENSP00000243213:C145Y	ENSP00000243213:C145Y	C	-	2	0	IL13RA2	114154675	0.973000	0.33851	0.928000	0.36995	0.551000	0.35334	4.076000	0.57591	2.290000	0.77057	0.600000	0.82982	TGC	-	IL13RA2	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3		0.333	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	0	0	0	80	80	141	0.00	0.00	C	NM_000640		114248419	-1	23	76	18	46	tier1	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	56.10	62.30	SNP	0.884	T	23	18
SERPINB9	5272	genome.wustl.edu	37	6	2890727	2890727	+	Silent	SNP	A	A	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr6:2890727A>G	ENST00000380698.4	-	7	890	c.801T>C	c.(799-801)gtT>gtC	p.V267V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	267					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGGAAGGAGAACTTCAACCT	0.423													ENSG00000170542																																					0													93.0	94.0	94.0					6																	2890727		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.801T>C	6.37:g.2890727A>G			B2RBW3|Q5TD03	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.V267	ENST00000380698.4	37	c.801	CCDS4478.1	6																																																																																			-	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin		0.423	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	0	0	0	21	21	110	0.00	0.00	A			2890727	-1	15	54	7	51	tier1	no_errors	ENST00000380698	ensembl	human	known	74_37	silent	68.18	51.43	SNP	0.001	G	15	7
TRIM44	54765	genome.wustl.edu	37	11	35828045	35828045	+	3'UTR	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:35828045C>T	ENST00000299413.5	+	0	1452				TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				AAACGTACTTCCACCAGATGT	0.498													ENSG00000166326																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.*110C>T	11.37:g.35828045C>T			D3DR14|Q96QY2|Q9UGK0	R	SNP	-	NULL	ENST00000299413.5	37	NULL	CCDS31461.1	11																																																																																			-	TRIM44	-	-		0.498	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM44	HGNC	protein_coding	OTTHUMT00000389081.1	0	0	0	73	73	79	0.00	0.00	C	NM_017583		35828045	+1	18	34	42	108	tier1	no_errors	ENST00000532066	ensembl	human	known	74_37	rna	30.00	23.94	SNP	0.000	T	18	42
PCDH15	65217	genome.wustl.edu	37	10	56129015	56129015	+	Silent	SNP	G	G	A			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:56129015G>A	ENST00000320301.6	-	5	733	c.339C>T	c.(337-339)tcC>tcT	p.S113S	PCDH15_ENST00000395430.1_Silent_p.S113S|PCDH15_ENST00000395440.1_Silent_p.S113S|PCDH15_ENST00000395438.1_Silent_p.S113S|PCDH15_ENST00000395432.2_Silent_p.S113S|PCDH15_ENST00000373965.2_Silent_p.S113S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Silent_p.S118S|PCDH15_ENST00000373955.1_Silent_p.S113S|PCDH15_ENST00000361849.3_Silent_p.S113S|PCDH15_ENST00000395433.1_Silent_p.S91S|PCDH15_ENST00000395442.1_Silent_p.S113S|PCDH15_ENST00000373957.3_Silent_p.S91S|PCDH15_ENST00000437009.1_Silent_p.S113S|PCDH15_ENST00000395445.1_Silent_p.S113S|PCDH15_ENST00000395446.1_Silent_p.S113S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCACCACAATGGAGTGTATGT	0.403										HNSCC(58;0.16)			ENSG00000150275																																					0													112.0	92.0	99.0					10																	56129015		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.339C>T	10.37:g.56129015G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S113	ENST00000320301.6	37	c.339	CCDS7248.1	10																																																																																			-	PCDH15	-	smart_Cadherin		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	0	0	0	59	59	70	0.00	0.00	G	NM_033056		56129015	-1	16	39	23	22	tier1	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	41.03	63.93	SNP	1.000	A	16	23
CDK4	1019	genome.wustl.edu	37	12	58145458	58145458	+	Missense_Mutation	SNP	C	C	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:58145458C>G	ENST00000257904.6	-	2	408	c.43G>C	c.(43-45)Ggt>Cgt	p.G15R	CDK4_ENST00000312990.6_Missense_Mutation_p.G15R|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCATAGGCACCGACACCAATT	0.542			Mis			melanoma			Hereditary Melanoma				ENSG00000135446																											yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													63.0	64.0	64.0					12																	58145458		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	-	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.43G>C	12.37:g.58145458C>G	ENSP00000257904:p.Gly15Arg		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G15R	ENST00000257904.6	37	c.43	CCDS8953.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573793	0.86542	.	.	ENSG00000135446	ENST00000257904;ENST00000312990;ENST00000552254;ENST00000552388;ENST00000552862	D;D;D;D;D	0.96365	-3.99;-2.8;-3.99;-3.99;-3.99	5.17	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98810	1.0743	10	0.87932	D	0	.	13.0921	0.59171	0.0:0.9209:0.0:0.0791	.	15	P11802	CDK4_HUMAN	R	15	ENSP00000257904:G15R;ENSP00000316889:G15R;ENSP00000449179:G15R;ENSP00000448963:G15R;ENSP00000446763:G15R	ENSP00000257904:G15R	G	-	1	0	CDK4	56431725	1.000000	0.71417	0.955000	0.39395	0.978000	0.69477	7.325000	0.79124	1.557000	0.49525	-0.140000	0.14226	GGT	-	CDK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK4	HGNC	protein_coding	OTTHUMT00000408790.2	0	0	0	27	27	80	0.00	0.00	C	NM_000075		58145458	-1	5	26	9	78	tier1	no_errors	ENST00000257904	ensembl	human	known	74_37	missense	35.71	25.00	SNP	0.999	G	5	9
LINC01010	154092	genome.wustl.edu	37	6	134824057	134824057	+	lincRNA	SNP	A	A	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr6:134824057A>G	ENST00000431422.1	+	0	407				RP11-557H15.3_ENST00000417483.1_lincRNA	NR_038217.1|NR_038218.1				long intergenic non-protein coding RNA 1010																		GGTAATAGGCAAGCCAAGGCA	0.498													ENSG00000236700																																					0																																												0			-			6q23.2	2013-07-24			ENSG00000236700	ENSG00000236700		"""Long non-coding RNAs"""	48978	non-coding RNA	RNA, long non-coding							Standard	NR_038216		Approved				OTTHUMG00000015616		6.37:g.134824057A>G				R	SNP	-	NULL	ENST00000431422.1	37	NULL		6																																																																																			-	LINC01010	-	-		0.498	LINC01010-001	KNOWN	basic	lincRNA	LINC01010	HGNC	lincRNA	OTTHUMT00000042322.1	0	0	0	22	22	77	0.00	0.00	A			134824057	+1	7	27	14	73	tier1	no_errors	ENST00000431422	ensembl	human	known	74_37	rna	33.33	27.00	SNP	0.013	G	7	14
RGMB	285704	genome.wustl.edu	37	5	98129279	98129279	+	Missense_Mutation	SNP	C	C	A			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr5:98129279C>A	ENST00000513185.1	+	3	1572	c.1136C>A	c.(1135-1137)aCt>aAt	p.T379N	RGMB_ENST00000308234.7_Missense_Mutation_p.T420N			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	379					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGCTCACCACTGGTGATGCC	0.562													ENSG00000174136																																					0													87.0	86.0	86.0					5																	98129279		2096	4230	6326	SO:0001583	missense	0			-	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1136C>A	5.37:g.98129279C>A	ENSP00000423256:p.Thr379Asn		D6R9A0|Q8NC92	Missense_Mutation	SNP	pfam_RGM_C,pfam_RGM_N	p.T420N	ENST00000513185.1	37	c.1259		5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164881	0.78339	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.90385	-2.66;-2.66	5.62	4.74	0.60224	Repulsive guidance molecule, C-terminal (1);	0.045263	0.85682	N	0.000000	D	0.95452	0.8523	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95983	0.8979	10	0.87932	D	0	-14.8558	15.757	0.78043	0.1377:0.8623:0.0:0.0	.	379	Q6NW40	RGMB_HUMAN	N	420;379	ENSP00000308219:T420N;ENSP00000423256:T379N	ENSP00000308219:T420N	T	+	2	0	RGMB	98157179	1.000000	0.71417	0.916000	0.36221	0.976000	0.68499	7.784000	0.85713	1.328000	0.45358	0.655000	0.94253	ACT	-	RGMB	-	pfam_RGM_C		0.562	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1	0	0	0	50	50	65	0.00	0.00	C	NM_173670		98129279	+1	22	42	30	78	tier1	no_errors	ENST00000308234	ensembl	human	known	74_37	missense	42.31	35.00	SNP	1.000	A	22	30
PIGC	5279	genome.wustl.edu	37	1	172411323	172411323	+	Missense_Mutation	SNP	T	T	A			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:172411323T>A	ENST00000367728.1	-	1	1903	c.440A>T	c.(439-441)gAc>gTc	p.D147V	PIGC_ENST00000258324.1_Missense_Mutation_p.D147V|PIGC_ENST00000344529.4_Missense_Mutation_p.D147V|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	147					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATAGATGGTGTCAGTGCTGAC	0.478													ENSG00000135845																																					0													66.0	58.0	61.0					1																	172411323		2203	4300	6503	SO:0001583	missense	0			-	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.440A>T	1.37:g.172411323T>A	ENSP00000356702:p.Asp147Val		O14491	Missense_Mutation	SNP	pfam_Plno_Glcc_GPI2,pirsf_Plno_Glcc_GPI2	p.D147V	ENST00000367728.1	37	c.440	CCDS1302.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190050	0.78789	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.71341	-0.56;-0.56;-0.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.91140	3.18	0.80722	D	1	P	0.50617	0.937	P	0.46940	0.532	T	0.82416	-0.0468	10	0.87932	D	0	-30.8042	13.6827	0.62496	0.0:0.0:0.0:1.0	.	147	Q92535	PIGC_HUMAN	V	147	ENSP00000356701:D147V;ENSP00000356702:D147V;ENSP00000258324:D147V	ENSP00000258324:D147V	D	-	2	0	PIGC	170677946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.528000	0.81941	1.917000	0.55516	0.528000	0.53228	GAC	-	PIGC	-	pfam_Plno_Glcc_GPI2,pirsf_Plno_Glcc_GPI2		0.478	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	0	0	0	16	16	52	0.00	0.00	T	NM_153747		172411323	-1	8	43	10	62	tier1	no_errors	ENST00000258324	ensembl	human	known	74_37	missense	44.44	40.95	SNP	1.000	A	8	10
CFAP54	144535	genome.wustl.edu	37	12	97102550	97102550	+	Silent	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:97102550C>T	ENST00000524981.4	+	48	6716	c.6693C>T	c.(6691-6693)aaC>aaT	p.N2231N				Q96N23	CL055_HUMAN		0																	TAATTACCAACAAGAGCAAAC	0.348													ENSG00000188596																																					0													66.0	69.0	68.0					12																	97102550		2203	4299	6502	SO:0001819	synonymous_variant	0			-																												ENST00000524981.4:c.6693C>T	12.37:g.97102550C>T				Silent	SNP	superfamily_Fibronectin_type3	p.N2231	ENST00000524981.4	37	c.6693		12																																																																																			-	C12orf55	-	NULL		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	0	0	0	16	16	127	0.00	0.00	C			97102550	+1	14	48	20	114	tier1	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	41.18	29.63	SNP	0.000	T	14	20
CLCN2	1181	genome.wustl.edu	37	3	184071063	184071063	+	Missense_Mutation	SNP	G	G	A	rs9820367	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:184071063G>A	ENST00000265593.4	-	17	2174	c.2003C>T	c.(2002-2004)aCc>aTc	p.T668I	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.T624I|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.T668I|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.T651I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	668			T -> S (in dbSNP:rs9820367). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17762171, ECO:0000269|PubMed:7795595}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.T668S(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCCTCAGGGGTAGGGGGACC	0.617													ENSG00000114859																																					1	Substitution - Missense(1)	stomach(1)											92.0	103.0	99.0					3																	184071063		2203	4300	6503	SO:0001583	missense	0			-	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2003C>T	3.37:g.184071063G>A	ENSP00000265593:p.Thr668Ile		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.T668I	ENST00000265593.4	37	c.2003	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	18.93	3.727469	0.69074	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84944	-1.87;-1.82;-1.92;-1.9	5.62	4.72	0.59763	.	0.518488	0.23049	N	0.052518	T	0.74473	0.3721	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.20164	0.02;0.042;0.015;0.02	B;B;B;B	0.24541	0.017;0.024;0.054;0.017	T	0.70096	-0.4966	10	0.52906	T	0.07	-12.2828	8.3489	0.32290	0.0:0.6212:0.2989:0.0799	.	624;668;651;668	E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	I	668;651;624;668	ENSP00000265593:T668I;ENSP00000345056:T651I;ENSP00000400425:T624I;ENSP00000391928:T668I	ENSP00000265593:T668I	T	-	2	0	CLCN2	185553757	0.002000	0.14202	0.975000	0.42487	0.639000	0.38242	0.790000	0.26900	1.395000	0.46643	-0.215000	0.12644	ACC	-	CLCN2	-	NULL		0.617	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	0	0	0	60	60	33	0.00	0.00	G			184071063	-1	35	36	15	16	tier1	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	34.31	33.64	SNP	0.990	A	35	15
P2RX2	22953	genome.wustl.edu	37	12	133198160	133198160	+	Intron	SNP	G	G	A	rs199514327		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:133198160G>A	ENST00000389110.3	+	10	1099				P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.G366R|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000352418.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CAGCGGGTGCGGGGGGTCCAC	0.582													ENSG00000187848																																					0													39.0	45.0	43.0					12																	133198160		2203	4300	6503	SO:0001627	intron_variant	0			-	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1062+34G>A	12.37:g.133198160G>A			A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.G366R	ENST00000389110.3	37	c.1096	CCDS31931.1	12	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378800	0.01204	.	.	ENSG00000187848	ENST00000343948	T	0.05855	3.38	4.24	-1.39	0.08997	.	0.858235	0.09425	U	0.803884	T	0.02533	0.0077	.	.	.	0.09310	N	0.999999	P	0.41624	0.757	B	0.27076	0.076	T	0.42982	-0.9419	8	.	.	.	.	2.6482	0.04991	0.1658:0.263:0.4368:0.1344	.	366	Q9UBL9-4	.	R	366	ENSP00000343339:G366R	.	G	+	1	0	P2RX2	131708233	0.000000	0.05858	0.001000	0.08648	0.239000	0.25481	-0.978000	0.03778	0.076000	0.16826	0.555000	0.69702	GGG	rs199514327	P2RX2	-	NULL		0.582	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	0	0	0	43	43	42	0.00	0.00	G			133198160	+1	14	38	23	58	tier1	no_errors	ENST00000343948	ensembl	human	known	74_37	missense	37.84	39.58	SNP	0.000	A	14	23
OCIAD1	54940	genome.wustl.edu	37	4	48835496	48835496	+	Missense_Mutation	SNP	G	G	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr4:48835496G>C	ENST00000381473.3	+	3	555	c.137G>C	c.(136-138)aGa>aCa	p.R46T	OCIAD1_ENST00000425583.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000508293.1_Missense_Mutation_p.R46T|OCIAD1_ENST00000264312.7_Missense_Mutation_p.R46T|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000444354.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000513391.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000396448.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000509122.1_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	46	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TTCTGGTTCAGATGTGAGTTC	0.333													ENSG00000109180																																					0													50.0	52.0	52.0					4																	48835496		2203	4300	6503	SO:0001583	missense	0			-	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.137G>C	4.37:g.48835496G>C	ENSP00000370882:p.Arg46Thr		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	pfam_OCIA	p.R46T	ENST00000381473.3	37	c.137	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352063	0.82132	.	.	ENSG00000109180	ENST00000504654;ENST00000509664;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	M	0.81112	2.525	0.44890	D	0.997908	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.984;0.999	D	0.84688	0.0721	10	0.72032	D	0.01	-17.4095	15.8864	0.79251	0.0:0.0:1.0:0.0	.	46;46;46	Q9NX40-3;Q9NX40-2;Q9NX40	.;.;OCAD1_HUMAN	T	46	ENSP00000423381:R46T;ENSP00000422171:R46T;ENSP00000423845:R46T;ENSP00000424252:R46T;ENSP00000420917:R46T;ENSP00000264312:R46T;ENSP00000379725:R46T;ENSP00000426386:R46T;ENSP00000426902:R46T;ENSP00000427389:R46T;ENSP00000370882:R46T;ENSP00000399656:R46T;ENSP00000425633:R46T;ENSP00000416943:R46T;ENSP00000423002:R46T;ENSP00000423909:R46T	ENSP00000264312:R46T	R	+	2	0	OCIAD1	48530253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.398000	0.66308	2.546000	0.85860	0.655000	0.94253	AGA	-	OCIAD1	-	pfam_OCIA		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	0	0	0	45	45	75	0.00	0.00	G	NM_017830		48835496	+1	26	30	39	84	tier1	no_errors	ENST00000264312	ensembl	human	known	74_37	missense	40.00	26.32	SNP	1.000	C	26	39
SPTA1	6708	genome.wustl.edu	37	1	158581004	158581004	+	3'UTR	SNP	T	T	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:158581004T>C	ENST00000368147.4	-	0	7490				SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCCCCCAGTAAATTTCCCA	0.463													ENSG00000163554																																					0													41.0	43.0	42.0					1																	158581004		1910	4124	6034	SO:0001624	3_prime_UTR_variant	0			-	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.*50A>G	1.37:g.158581004T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	R	SNP	-	NULL	ENST00000368147.4	37	NULL	CCDS41423.1	1																																																																																			-	SPTA1	-	-		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	0	0	0	32	32	106	0.00	0.00	T	NM_003126		158581004	-1	10	75	17	123	tier1	no_errors	ENST00000485680	ensembl	human	known	74_37	rna	37.04	37.31	SNP	0.000	C	10	17
ZNF729	100287226	genome.wustl.edu	37	19	22498491	22498491	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:22498491C>T	ENST00000601693.1	+	4	2390	c.2272C>T	c.(2272-2274)Cat>Tat	p.H758Y	ZNF729_ENST00000357491.6_Missense_Mutation_p.H758Y			A6NN14	ZN729_HUMAN	zinc finger protein 729	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						CCTTAGAAAACATAAGGTAAT	0.338													ENSG00000196350																																					0																																										SO:0001583	missense	0			-		CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2272C>T	19.37:g.22498491C>T	ENSP00000469582:p.His758Tyr		M0QY45	Missense_Mutation	SNP	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.H758Y	ENST00000601693.1	37	c.2272	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	13.41	2.228880	0.39399	.	.	ENSG00000196350	ENST00000357491	D	0.86769	-2.17	0.996	0.996	0.19844	.	.	.	.	.	D	0.90738	0.7093	M	0.85542	2.76	.	.	.	.	.	.	.	.	.	D	0.91547	0.5254	6	0.87932	D	0	.	8.7778	0.34774	0.0:1.0:0.0:0.0	.	.	.	.	Y	758	ENSP00000350085:H758Y	ENSP00000350085:H758Y	H	+	1	0	ZNF729	22290331	0.132000	0.22450	0.012000	0.15200	0.012000	0.07955	1.976000	0.40579	0.416000	0.25844	0.416000	0.27883	CAT	-	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	0	0	0	38	38	39	0.00	0.00	C	XM_496301		22498491	+1	6	28	21	43	tier1	no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	22.22	38.89	SNP	0.700	T	6	21
DARS	1615	genome.wustl.edu	37	2	136742985	136742985	+	Missense_Mutation	SNP	C	C	A			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:136742985C>A	ENST00000264161.4	-	1	269	c.54G>T	c.(52-54)atG>atT	p.M18I	AC093391.2_ENST00000419808.1_RNA|DARS_ENST00000537273.1_5'UTR|AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000446492.1_RNA	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	18					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CCGCCGCGTCCATGATCTCCC	0.697													ENSG00000115866																																					0													43.0	48.0	46.0					2																	136742985		2203	4300	6503	SO:0001583	missense	0			-	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.54G>T	2.37:g.136742985C>A	ENSP00000264161:p.Met18Ile		A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	pfam_aa-tR-synt_II,pfam_-bd_OB_tR,superfamily_-bd_OB-fold,pfscan_aa-tR-synth_II,prints_Asp/Asn-tR-synth_IIb,tigrfam_Asp-tR_synthase	p.M18I	ENST00000264161.4	37	c.54	CCDS2180.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325285	0.60743	.	.	ENSG00000115866	ENST00000264161	D	0.82081	-1.57	4.83	4.83	0.62350	.	0.442639	0.27384	N	0.019619	T	0.67942	0.2947	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64829	-0.6315	10	0.44086	T;T	0.13;0.13	-7.7323	13.3107	0.60378	0.0:1.0:0.0:0.0	.	18	P14868	SYDC_HUMAN	I	18	ENSP00000264161:M18I	ENSP00000264161:M18I;ENSP00000264161:M18I	M	-	3	0	DARS	136459455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.683000	0.54663	2.500000	0.84329	0.467000	0.42956	ATG	-	DARS	-	NULL		0.697	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS	HGNC	protein_coding	OTTHUMT00000254660.5	0	0	0	111	111	45	0.00	0.00	C	NM_001349		136742985	-1	42	38	71	52	tier1	no_errors	ENST00000264161	ensembl	human	known	74_37	missense	37.17	42.22	SNP	1.000	A	42	71
DISP2	85455	genome.wustl.edu	37	15	40661057	40661057	+	Missense_Mutation	SNP	C	C	T	rs559188294		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr15:40661057C>T	ENST00000267889.3	+	8	2831	c.2744C>T	c.(2743-2745)cCg>cTg	p.P915L	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	915					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.P915Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGGAACAGTCCGGACTACAAC	0.627													ENSG00000140323																																					1	Substitution - Missense(1)	endometrium(1)											49.0	51.0	50.0					15																	40661057		2203	4300	6503	SO:0001583	missense	0			-	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2744C>T	15.37:g.40661057C>T	ENSP00000267889:p.Pro915Leu		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.P915L	ENST00000267889.3	37	c.2744	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.866601	0.00547	.	.	ENSG00000140323	ENST00000267889	T	0.09445	2.98	4.85	3.86	0.44501	.	0.360109	0.31102	N	0.008241	T	0.03053	0.0090	N	0.02345	-0.59	0.38645	D	0.951694	B	0.25048	0.117	B	0.09377	0.004	T	0.44832	-0.9302	10	0.20046	T	0.44	-0.9813	3.9102	0.09199	0.0:0.6855:0.0:0.3145	.	915	A7MBM2	DISP2_HUMAN	L	915	ENSP00000267889:P915L	ENSP00000267889:P915L	P	+	2	0	DISP2	38448349	0.353000	0.24904	0.221000	0.23827	0.080000	0.17528	3.949000	0.56668	2.544000	0.85801	0.555000	0.69702	CCG	-	DISP2	-	NULL		0.627	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	0	0	0	55	55	72	0.00	0.00	C	NM_033510		40661057	+1	18	41	35	74	tier1	no_errors	ENST00000267889	ensembl	human	known	74_37	missense	33.96	35.65	SNP	0.991	T	18	35
NHS	4810	genome.wustl.edu	37	X	17742527	17742527	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:17742527C>T	ENST00000380060.3	+	5	1492	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	NHS_ENST00000398097.3_Missense_Mutation_p.P229L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	406					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCGGGTATCCCCAGAAGAGTT	0.413													ENSG00000188158																																					0													95.0	86.0	89.0					X																	17742527		2203	4300	6503	SO:0001583	missense	0			-		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1154C>T	X.37:g.17742527C>T	ENSP00000369400:p.Pro385Leu		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.P385L	ENST00000380060.3	37	c.1154	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850082	0.91277	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.60797	0.19;0.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.78339	-0.2242	10	0.54805	T	0.06	-20.1811	18.5982	0.91236	0.0:1.0:0.0:0.0	.	406;227;229;385	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	385;229;227	ENSP00000369400:P385L;ENSP00000381170:P229L	ENSP00000369397:P227L	P	+	2	0	NHS	17652448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.705000	0.84606	2.422000	0.82143	0.544000	0.68410	CCC	-	NHS	-	NULL		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	0	0	0	32	32	144	0.00	0.00	C	NM_198270		17742527	+1	5	18	25	157	tier1	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	16.67	10.29	SNP	1.000	T	5	25
TEX14	56155	genome.wustl.edu	37	17	56679184	56679184	+	Missense_Mutation	SNP	A	A	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:56679184A>G	ENST00000240361.8	-	13	1764	c.1679T>C	c.(1678-1680)aTa>aCa	p.I560T	TEX14_ENST00000349033.5_Missense_Mutation_p.I554T|TEX14_ENST00000389934.3_Missense_Mutation_p.I554T			Q8IWB6	TEX14_HUMAN	testis expressed 14	560					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTTAGTTCTATGATTTCCAT	0.453													ENSG00000121101																																					0													180.0	162.0	168.0					17																	56679184		2203	4300	6503	SO:0001583	missense	0			-	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1679T>C	17.37:g.56679184A>G	ENSP00000240361:p.Ile560Thr		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.I560T	ENST00000240361.8	37	c.1679	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	A	5.470	0.271765	0.10349	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.77877	-1.13;-1.13;-1.09	5.8	-0.967	0.10316	.	0.458025	0.22261	N	0.062417	T	0.51329	0.1668	N	0.08118	0	0.09310	N	1	B;B;B	0.21520	0.057;0.02;0.02	B;B;B	0.21151	0.022;0.033;0.033	T	0.39742	-0.9599	10	0.48119	T	0.1	-4.1658	4.4564	0.11645	0.2126:0.2327:0.0:0.5547	.	560;554;554	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	560;554;554	ENSP00000240361:I560T;ENSP00000374584:I554T;ENSP00000268910:I554T	ENSP00000240361:I560T	I	-	2	0	TEX14	54034183	1.000000	0.71417	0.991000	0.47740	0.114000	0.19823	1.356000	0.34079	-0.106000	0.12110	-1.731000	0.00696	ATA	-	TEX14	-	NULL		0.453	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	0	0	0	34	34	101	0.00	0.00	A			56679184	-1	12	69	23	118	tier1	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	34.29	36.90	SNP	0.077	G	12	23
LMO2	4005	genome.wustl.edu	37	11	33902977	33902977	+	Missense_Mutation	SNP	T	T	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:33902977T>C	ENST00000330381.2	+	1	789	c.329T>C	c.(328-330)gTc>gCc	p.V110A	LMO2_ENST00000257818.2_Intron																							CTCCAACAAGTCATTTCCATC	0.468													ENSG00000184566																																					0																																										SO:0001583	missense	0			-																												ENST00000330381.2:c.329T>C	11.37:g.33902977T>C	ENSP00000332722:p.Val110Ala			Missense_Mutation	SNP	NULL	p.V110A	ENST00000330381.2	37	c.329		11	.	.	.	.	.	.	.	.	.	.	T	5.671	0.308327	0.10733	.	.	ENSG00000184566	ENST00000330381	.	.	.	4.52	0.193	0.15139	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.55244	-0.8171	5	0.87932	D	0	.	2.4638	0.04547	0.2063:0.2774:0.0:0.5163	.	.	.	.	A	110	.	ENSP00000332722:V110A	V	+	2	0	AC132216.1	33859553	0.997000	0.39634	0.954000	0.39281	0.036000	0.12997	0.119000	0.15626	0.182000	0.20032	0.383000	0.25322	GTC	-	AC132216.1	-	NULL		0.468	AC132216.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000184566	Clone_based_ensembl_gene	protein_coding		0	0	0	19	19	130	0.00	0.00	T			33902977	+1	7	81	9	117	tier1	no_errors	ENST00000330381	ensembl	human	known	74_37	missense	43.75	40.91	SNP	0.896	C	7	9
TGM1	7051	genome.wustl.edu	37	14	24727837	24727837	+	Missense_Mutation	SNP	A	A	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr14:24727837A>C	ENST00000206765.6	-	8	1325	c.1202T>G	c.(1201-1203)tTc>tGc	p.F401C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	401			F -> V (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCGGAGTTGAAGTTGGTGAC	0.572													ENSG00000092295																																					0													186.0	161.0	169.0					14																	24727837		2203	4300	6503	SO:0001583	missense	0			-	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1202T>G	14.37:g.24727837A>C	ENSP00000206765:p.Phe401Cys		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F401C	ENST00000206765.6	37	c.1202	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031984	0.54790	.	.	ENSG00000092295	ENST00000206765	D	0.97430	-4.38	4.69	3.46	0.39613	Transglutaminase-like (2);	0.047647	0.85682	D	0.000000	D	0.98356	0.9454	H	0.94423	3.535	0.80722	D	1	D	0.63880	0.993	P	0.61533	0.89	D	0.98378	1.0557	10	0.87932	D	0	-29.0993	9.0433	0.36331	0.8349:0.0:0.0:0.1651	.	401	P22735	TGM1_HUMAN	C	401	ENSP00000206765:F401C	ENSP00000206765:F401C	F	-	2	0	TGM1	23797677	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.359000	0.20233	2.111000	0.64477	0.459000	0.35465	TTC	-	TGM1	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	0	0	0	57	57	88	0.00	0.00	A	NM_000359		24727837	-1	16	58	19	52	tier1	no_errors	ENST00000206765	ensembl	human	known	74_37	missense	45.71	52.73	SNP	1.000	C	16	19
DLX1	1745	genome.wustl.edu	37	2	172952850	172952850	+	Silent	SNP	C	C	G	rs200336628	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:172952850C>G	ENST00000361725.4	+	3	1085	c.633C>G	c.(631-633)ccC>ccG	p.P211P	DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	211					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTCCCCACCCGTGCCGCCCG	0.627													ENSG00000144355																																					0													65.0	77.0	73.0					2																	172952850		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.633C>G	2.37:g.172952850C>G			D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P211	ENST00000361725.4	37	c.633	CCDS2247.2	2																																																																																			-	DLX1	-	NULL		0.627	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	HGNC	protein_coding	OTTHUMT00000405916.1	0	0	0	47	47	64	0.00	0.00	C	XM_087198		172952850	+1	9	32	23	56	tier1	no_errors	ENST00000361725	ensembl	human	known	74_37	silent	28.12	35.56	SNP	0.001	G	9	23
CYP3A7	1551	genome.wustl.edu	37	7	99314839	99314839	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr7:99314839C>T	ENST00000336374.2	-	6	484	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	161					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCTTCCCGCCTCAGATTTCT	0.502													ENSG00000160870																																					0													162.0	146.0	151.0					7																	99314839		2203	4300	6503	SO:0001583	missense	0			-	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.482G>A	7.37:g.99314839C>T	ENSP00000337450:p.Arg161Lys		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R161K	ENST00000336374.2	37	c.482	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218383	0.06101	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69040	-0.37	3.98	2.02	0.26589	.	0.517672	0.23237	N	0.050394	T	0.38214	0.1032	N	0.12853	0.265	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11494	-1.0585	10	0.12103	T	0.63	.	3.923	0.09251	0.2031:0.5865:0.0:0.2103	.	161	P24462	CP3A7_HUMAN	K	161	ENSP00000337450:R161K	ENSP00000292414:R161K	R	-	2	0	CYP3A7	99152775	0.059000	0.20769	0.026000	0.17262	0.226000	0.24999	0.537000	0.23144	0.715000	0.32103	0.462000	0.41574	AGG	-	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.502	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	0	0	0	51	51	88	0.00	0.00	C			99314839	-1	7	16	39	129	tier1	no_errors	ENST00000336374	ensembl	human	known	74_37	missense	15.22	11.03	SNP	0.046	T	7	39
SUGP2	10147	genome.wustl.edu	37	19	19136447	19136447	+	Missense_Mutation	SNP	G	G	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:19136447G>C	ENST00000601879.1	-	3	1007	c.710C>G	c.(709-711)gCt>gGt	p.A237G	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.A237G|SUGP2_ENST00000337018.6_Missense_Mutation_p.A237G|SUGP2_ENST00000600377.1_Missense_Mutation_p.A251G			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	237					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACCCCCCTTAGCTGTGAGCAG	0.517													ENSG00000064607																																					0													114.0	109.0	111.0					19																	19136447		2203	4300	6503	SO:0001583	missense	0			-	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.710C>G	19.37:g.19136447G>C	ENSP00000472286:p.Ala237Gly		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A237G	ENST00000601879.1	37	c.710	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245963	0.39697	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.12465	2.7;2.68;2.7	5.11	5.11	0.69529	.	0.529889	0.18395	N	0.142559	T	0.11580	0.0282	N	0.24115	0.695	0.80722	D	1	B;B	0.27823	0.104;0.19	B;B	0.24155	0.036;0.051	T	0.09465	-1.0673	10	0.66056	D	0.02	-3.7053	15.699	0.77528	0.0:0.0:1.0:0.0	.	237;237	A8K5G0;Q8IX01	.;SUGP2_HUMAN	G	237	ENSP00000337926:A237G;ENSP00000332373:A237G;ENSP00000389380:A237G	ENSP00000332373:A237G	A	-	2	0	SUGP2	18997447	0.996000	0.38824	0.046000	0.18839	0.949000	0.60115	3.935000	0.56560	2.390000	0.81377	0.313000	0.20887	GCT	-	SUGP2	-	NULL		0.517	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	0	0	0	71	71	105	0.00	0.00	G	NM_001017392		19136447	-1	31	70	38	137	tier1	no_errors	ENST00000337018	ensembl	human	known	74_37	missense	44.93	33.82	SNP	0.783	C	31	38
ANKRD27	84079	genome.wustl.edu	37	19	33137460	33137460	+	Missense_Mutation	SNP	A	A	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:33137460A>G	ENST00000306065.4	-	4	433	c.275T>C	c.(274-276)gTg>gCg	p.V92A	ANKRD27_ENST00000587352.1_Missense_Mutation_p.V92A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	92					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAATGGGCACTGAGAGAAG	0.433													ENSG00000105186																																					0													86.0	88.0	88.0					19																	33137460		2203	4300	6503	SO:0001583	missense	0			-	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.275T>C	19.37:g.33137460A>G	ENSP00000304292:p.Val92Ala		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.V92A	ENST00000306065.4	37	c.275	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311343	0.81358	.	.	ENSG00000105186	ENST00000306065	T	0.64803	-0.12	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000090	T	0.70298	0.3208	L	0.46157	1.445	0.42323	D	0.992269	D	0.64830	0.994	P	0.59171	0.853	T	0.74228	-0.3733	10	0.72032	D	0.01	-25.4491	15.1942	0.73071	1.0:0.0:0.0:0.0	.	92	Q96NW4	ANR27_HUMAN	A	92	ENSP00000304292:V92A	ENSP00000304292:V92A	V	-	2	0	ANKRD27	37829300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.953000	0.87836	1.997000	0.58415	0.445000	0.29226	GTG	-	ANKRD27	-	NULL		0.433	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	0	0	0	24	24	117	0.00	0.00	A	NM_032139		33137460	-1	7	24	17	130	tier1	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	29.17	15.58	SNP	1.000	G	7	17
C10orf76	79591	genome.wustl.edu	37	10	103783275	103783275	+	Missense_Mutation	SNP	C	C	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:103783275C>G	ENST00000370033.4	-	8	747	c.628G>C	c.(628-630)Gtc>Ctc	p.V210L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	210						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGAGGACGACAGCATCATAC	0.458													ENSG00000120029																																					0													121.0	118.0	119.0					10																	103783275		1946	4147	6093	SO:0001583	missense	0			-	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.628G>C	10.37:g.103783275C>G	ENSP00000359050:p.Val210Leu		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.V210L	ENST00000370033.4	37	c.628	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442772	0.63067	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.31526	0.94	0.80722	D	1	B	0.17465	0.022	B	0.15484	0.013	T	0.44065	-0.9352	9	0.27082	T	0.32	-12.3662	19.1344	0.93420	0.0:1.0:0.0:0.0	.	210	Q5T2E6	CJ076_HUMAN	L	210	.	ENSP00000359050:V210L	V	-	1	0	C10orf76	103773265	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.480000	0.81109	2.590000	0.87494	0.563000	0.77884	GTC	-	C10orf76	-	superfamily_ARM-type_fold		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	0	0	0	28	28	130	0.00	0.00	C	NM_024541		103783275	-1	11	45	9	29	tier1	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	55.00	60.81	SNP	1.000	G	11	9
REPS1	85021	genome.wustl.edu	37	6	139265676	139265676	+	Missense_Mutation	SNP	G	G	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr6:139265676G>T	ENST00000450536.2	-	5	1286	c.712C>A	c.(712-714)Cca>Aca	p.P238T	REPS1_ENST00000415951.2_Missense_Mutation_p.P238T|REPS1_ENST00000258062.5_Missense_Mutation_p.P238T|REPS1_ENST00000367663.4_Missense_Mutation_p.P238T|REPS1_ENST00000409812.2_Missense_Mutation_p.P238T			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	238					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTACTGGTTGGTGGAGTATCT	0.448													ENSG00000135597																																					0													193.0	179.0	184.0					6																	139265676		2203	4300	6503	SO:0001583	missense	0			-		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.712C>A	6.37:g.139265676G>T	ENSP00000392065:p.Pro238Thr		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.P238T	ENST00000450536.2	37	c.712		6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024739	0.75390	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.36157	1.27;1.32;1.34;1.36;1.29;1.32	5.72	5.72	0.89469	.	0.048246	0.85682	D	0.000000	T	0.38241	0.1033	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.978;0.996	T	0.07809	-1.0753	10	0.33141	T	0.24	-12.7677	18.4242	0.90604	0.0:0.0:1.0:0.0	.	238;238;238;238	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	T	238;238;224;238;238;238;186	ENSP00000392065:P238T;ENSP00000356635:P238T;ENSP00000434251:P224T;ENSP00000386699:P238T;ENSP00000258062:P238T;ENSP00000397941:P238T	ENSP00000258062:P238T	P	-	1	0	REPS1	139307369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	2.865000	0.98341	0.655000	0.94253	CCA	-	REPS1	-	NULL		0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	0	0	0	34	34	107	0.00	0.00	G			139265676	-1	14	73	15	126	tier1	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	48.28	36.68	SNP	1.000	T	14	15
GMEB1	10691	genome.wustl.edu	37	1	29041385	29041386	+	3'UTR	INS	-	-	A	rs372271712|rs559808019|rs528044464	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:29041385_29041386insA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTTTTTTAAAAAAAAAAA	0.342													ENSG00000162419																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.*100->A	1.37:g.29041396_29041396dupA			B1AT48|Q9NWH1|Q9UKD0	R	INS	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																				GMEB1	-	-		0.342	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	0	0	0	21	21	61	0.00	0.00	-	NM_006582		29041386	+1	3	14	24	124	tier1	no_errors	ENST00000480454	ensembl	human	known	74_37	rna	11.11	10.14	INS	0.437:0.252	A	3	24
MAP7D1	55700	genome.wustl.edu	37	1	36644133	36644133	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:36644133C>T	ENST00000373151.2	+	10	2038	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	MAP7D1_ENST00000373150.4_Missense_Mutation_p.R576C|MAP7D1_ENST00000373148.4_Missense_Mutation_p.R145C|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R571C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	608					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TGAGAAGCGGCGCCAGGCCCG	0.697													ENSG00000116871																																					0													12.0	17.0	16.0					1																	36644133		2194	4285	6479	SO:0001583	missense	0			-	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1822C>T	1.37:g.36644133C>T	ENSP00000362244:p.Arg608Cys		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_MAP7	p.R608C	ENST00000373151.2	37	c.1822	CCDS30673.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957020|3.957020	0.73902|0.73902	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000530975|ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.379499	.|0.19576	.|N	.|0.110966	T|T	0.67040|0.67040	0.2851|0.2851	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|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;0.999;0.999;0.998;0.999	T|T	0.73933|0.73933	-0.3826|-0.3826	5|10	.|0.87932	.|D	.|0	-5.1069|-5.1069	16.6044|16.6044	0.84824|0.84824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;608;571;576;608	.|Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.|.;.;.;.;MA7D1_HUMAN	V|C	181|571;576;608;145	.|ENSP00000320228:R571C;ENSP00000362243:R576C;ENSP00000362244:R608C;ENSP00000362241:R145C	.|ENSP00000320228:R571C	A|R	+|+	2|1	0|0	MAP7D1|MAP7D1	36416720|36416720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.822000|2.822000	0.48073|0.48073	2.490000|2.490000	0.84030|0.84030	0.563000|0.563000	0.77884|0.77884	GCG|CGC	-	MAP7D1	-	pfam_MAP7		0.697	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	0	0	0	50	50	6	0.00	0.00	C	NM_018067		36644133	+1	26	16	12	8	tier1	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	68.42	66.67	SNP	1.000	T	26	12
DCAF7	10238	genome.wustl.edu	37	17	61666515	61666515	+	Missense_Mutation	SNP	T	T	C			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:61666515T>C	ENST00000310827.4	+	8	1227	c.1010T>C	c.(1009-1011)cTg>cCg	p.L337P	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Missense_Mutation_p.L137P	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	337					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AACAACTGCCTGGAGATACTC	0.542													ENSG00000136485																																					0													105.0	102.0	103.0					17																	61666515		2043	4185	6228	SO:0001583	missense	0			-	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.1010T>C	17.37:g.61666515T>C	ENSP00000308344:p.Leu337Pro		B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L337P	ENST00000310827.4	37	c.1010		17	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468013	0.84533	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.22134	2.43;1.97	5.31	5.31	0.75309	.	0.071335	0.64402	D	0.000018	T	0.41696	0.1170	.	.	.	0.80722	D	1	D;P	0.62365	0.991;0.921	P;P	0.57960	0.83;0.792	T	0.38001	-0.9681	9	0.87932	D	0	-17.1767	15.422	0.75018	0.0:0.0:0.0:1.0	.	137;337	B4E039;P61962	.;DCAF7_HUMAN	P	337;137	ENSP00000308344:L337P;ENSP00000403920:L137P	ENSP00000308344:L337P	L	+	2	0	DCAF7	59020247	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.226000	0.72624	0.460000	0.39030	CTG	-	DCAF7	-	NULL		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		0	0	0	40	40	78	0.00	0.00	T	NM_005828		61666515	+1	4	5	43	110	tier1	no_errors	ENST00000310827	ensembl	human	known	74_37	missense	8.51	4.35	SNP	1.000	C	4	43
CCT6A	908	genome.wustl.edu	37	7	56129482	56129482	+	Missense_Mutation	SNP	G	G	T			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr7:56129482G>T	ENST00000275603.4	+	12	1609	c.1390G>T	c.(1390-1392)Gtt>Ttt	p.V464F	CCT6A_ENST00000540286.1_Missense_Mutation_p.V433F|SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000342190.6_5'Flank|SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000395436.2_5'Flank|CCT6A_ENST00000335503.3_Missense_Mutation_p.V419F|SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000413756.1_5'Flank|CCT6A_ENST00000462133.1_3'UTR|SUMF2_ENST00000434526.2_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	464					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAAACATTAGTTAAAATTCA	0.358													ENSG00000146731																																					0													49.0	48.0	48.0					7																	56129482		2203	4300	6503	SO:0001583	missense	0			-	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1390G>T	7.37:g.56129482G>T	ENSP00000275603:p.Val464Phe		A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.V464F	ENST00000275603.4	37	c.1390	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315383	0.40996	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78481	-1.18;-1.18;-1.18	4.96	4.08	0.47627	.	0.205916	0.41294	N	0.000918	T	0.81791	0.4897	M	0.90309	3.105	0.53688	D	0.999976	B;B;B	0.18610	0.029;0.008;0.02	B;B;B	0.26969	0.038;0.075;0.038	T	0.80982	-0.1139	10	0.87932	D	0	-11.2745	12.0307	0.53396	0.0854:0.0:0.9146:0.0	.	433;419;464	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	F	464;419;433;322	ENSP00000275603:V464F;ENSP00000352019:V419F;ENSP00000438488:V433F	ENSP00000275603:V464F	V	+	1	0	CCT6A	56096976	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.996000	0.76263	1.088000	0.41272	0.456000	0.33151	GTT	-	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.358	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	0	0	0	42	42	24	0.00	0.00	G	NM_001762		56129482	+1	7	4	49	51	tier1	no_errors	ENST00000275603	ensembl	human	known	74_37	missense	12.50	7.27	SNP	1.000	T	7	49
ETV5	2119	genome.wustl.edu	37	3	185797767	185797767	+	Silent	SNP	G	G	A			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:185797767G>A	ENST00000306376.5	-	7	735	c.489C>T	c.(487-489)gcC>gcT	p.A163A	ETV5_ENST00000434744.1_Silent_p.A163A|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Silent_p.A205A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	163					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CAGCTGCAGGGGCATGCCCTG	0.637			T	"""TMPRSS2, SCL45A3"""	Prostate								ENSG00000244405																												Dom	yes		3	3q28	2119	ets variant gene 5		E	0													27.0	34.0	32.0					3																	185797767		2199	4299	6498	SO:0001819	synonymous_variant	0			-	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.489C>T	3.37:g.185797767G>A			A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A205	ENST00000306376.5	37	c.615	CCDS33906.1	3																																																																																			-	ETV5	-	pfam_ETS_PEA3_N		0.637	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	0	0	0	33	33	8	0.00	0.00	G	NM_004454		185797767	-1	8	0	16	4	tier1	no_errors	ENST00000537818	ensembl	human	known	74_37	silent	33.33	0.00	SNP	0.587	A	8	16
PNKP	11284	genome.wustl.edu	37	19	50370442	50370442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:50370442delG	ENST00000322344.3	-	2	129	c.20delC	c.(19-21)ccgfs	p.P7fs	PNKP_ENST00000596014.1_Frame_Shift_Del_p.P7fs|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Frame_Shift_Del_p.P7fs|PNKP_ENST00000600910.1_Frame_Shift_Del_p.P7fs	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	7	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAAGCGGCCCGGGGCCTCCAC	0.721								Other BER factors					ENSG00000039650																																					0													9.0	11.0	11.0					19																	50370442		2022	4056	6078	SO:0001589	frameshift_variant	0				AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.20delC	19.37:g.50370442delG	ENSP00000323511:p.Pro7fs		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Frame_Shift_Del	DEL	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,superfamily_P-loop_NTPase,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.P7fs	ENST00000322344.3	37	c.20	CCDS12783.1	19																																																																																				PNKP	-	superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met		0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	0	0	0	11	11	6	0.00	0.00	G	NM_007254		50370442	-1	2	0	11	6	tier1	no_errors	ENST00000322344	ensembl	human	known	74_37	frame_shift_del	15.38	0.00	DEL	0.000	-	2	11
SPATA5	166378	genome.wustl.edu	37	4	123928724	123928751	+	Intron	DEL	TGTGTGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTGTGTG	-	rs112099221|rs368779194|rs200644187|rs148702654|rs112656406|rs200478794		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	TGTGTGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTGTGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr4:123928724_123928751delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ENST00000274008.4	+	11	1938				SPATA5_ENST00000422835.2_Intron|AC109357.1_ENST00000401335.1_RNA	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						tgtgtgtatatgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtg	0.36													ENSG00000216154																																					0																																										SO:0001627	intron_variant	0				AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1870-20590TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-	4.37:g.123928724_123928751delTGTGTGTGTGTGTGTGTGTGTGTGTGTG			C9JT97|Q86XW1|Q8NI20|Q8TDL7	R	DEL	-	NULL	ENST00000274008.4	37	NULL	CCDS3730.1	4																																																																																				AC109357.1	-	-		0.360	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216154	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000256714.2	0	0	0	0	0	0	0.00	0.00	TGTGTGTGTGTGTGTGTGTGTGTGTGTG	NM_145207		123928751	-1	0	0	0	0	tier1	no_errors	ENST00000401335	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.008:0.004:0.004:0.003:0.003:0.003:0.005:0.006:0.007:0.007:0.007:0.006:0.005:0.003:0.004:0.003:0.005:0.006:0.012:0.017:0.021:0.026:0.029:0.032:0.035:0.037:0.038:0.039	-	0	0
KRT8P47	644743	genome.wustl.edu	37	1	44570004	44570004	+	lincRNA	SNP	T	T	G			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:44570004T>G	ENST00000434244.1	+	0	2001																											AGCTGCCGCCTAAGGTTGTTG	0.572													ENSG00000230615																																					0																																												0			-																													1.37:g.44570004T>G				R	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			-	RP5-1198O20.4	-	-		0.572	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	0	0	0	29	29	1	0.00	0.00	T			44570004	+1	4	0	19	1	tier1	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	17.39	0.00	SNP	1.000	G	4	19
WASH6P	653440	genome.wustl.edu	37	X	155252987	155252988	+	RNA	INS	-	-	CAGCACCAC			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:155252987_155252988insCAGCACCAC	ENST00000461007.1	+	0	1903_1904				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGGGGTactaacaccaccccca	0.658													ENSG00000270726		2815	0.562101	0.5726	0.585	5008	,	,		4013	0.4742		0.6402	False		,,,				2504	0.5419																0																																												0				AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252987_155252988insCAGCACCAC			A6NGF1|Q8N305	R	INS	-	NULL	ENST00000461007.1	37	NULL		X																																																																																				AJ271736.10	-	-		0.658	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1	0	0	0	0	0	0	0.00	0.00	-	NG_008380		155252988	+1	0	0	0	0	tier1	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.959:1.000	CAGCACCAC	0	0
LINC00200	399706	genome.wustl.edu	37	10	1205801	1205801	+	lincRNA	SNP	C	C	A	rs12763661		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:1205801C>A	ENST00000425630.1	+	0	94					NR_015376.2				long intergenic non-protein coding RNA 200																		CGCAGGCCTGCGCGCCACGCG	0.637													ENSG00000229205																																					0													31.0	36.0	34.0					10																	1205801		692	1591	2283			0			-	AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205801C>A				R	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			rs12763661	LINC00200	-	-		0.637	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	0	0	0	35	35	0	0.00	0.00	C	NR_015376		1205801	+1	5	1	17	0	tier1	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	22.73	100.00	SNP	0.025	A	5	17
MIR3689A	100500846	genome.wustl.edu	37	9	137742013	137742013	+	RNA	SNP	C	C	G	rs369116995		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:137742013C>G	ENST00000578854.1	-	0	0				MIR3689E_ENST00000582479.1_RNA|MIR3689C_ENST00000581239.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689D1_ENST00000579706.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689D2_ENST00000580187.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|AL603650.2_ENST00000581079.1_RNA|MIR3689B_ENST00000581772.1_RNA	NR_037460.1				microRNA 3689a																		CTCCCAGGAACCACAATATCA	0.617													ENSG00000264163																																					0																																												0			-			9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137742013C>G				R	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			rs71483239	MIR3689B	-	-		0.617	MIR3689A-201	KNOWN	basic	miRNA	MIR3689B	HGNC	miRNA		0	0	0	41	41	0	0.00	0.00	C	NR_037460		137742013	-1	7	0	25	1	tier1	no_errors	ENST00000581772	ensembl	human	known	74_37	rna	21.88	0.00	SNP	0.000	G	7	25
RCVRN	5957	genome.wustl.edu	37	17	9801316	9801317	+	3'UTR	INS	-	-	GTGTGTGC	rs531533066|rs376748693	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:9801316_9801317insGTGTGTGC	ENST00000226193.5	-	0	1138_1139				RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin						phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						tgtgtgtgtgtgcgcgcgcgtg	0.589													ENSG00000109047																																					0																																										SO:0001624	3_prime_UTR_variant	0				BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.*96->GCACACAC	17.37:g.9801316_9801317insGTGTGTGC			Q53XL0	R	INS	-	NULL	ENST00000226193.5	37	NULL	CCDS11151.1	17																																																																																				RCVRN	-	-		0.589	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	0	0	0	0	0	0	0.00	0.00	-	NM_002903		9801317	-1	0	0	0	0	tier1	no_errors	ENST00000570909	ensembl	human	putative	74_37	rna	0.00	0.00	INS	0.000:0.000	GTGTGTGC	0	0
CYP2S1	29785	genome.wustl.edu	37	19	41712320	41712320	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:41712320delT	ENST00000310054.4	+	9	1658	c.1442delT	c.(1441-1443)cttfs	p.L481fs	CYP2S1_ENST00000542619.1_Frame_Shift_Del_p.L206fs	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	481					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTCAGTGGCCTTTTCAACATT	0.602													ENSG00000167600																																					0													136.0	127.0	130.0					19																	41712320		2203	4300	6503	SO:0001589	frameshift_variant	0				AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1442delT	19.37:g.41712320delT	ENSP00000308032:p.Leu481fs		Q9BZ66	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.F482fs	ENST00000310054.4	37	c.1442	CCDS12573.1	19																																																																																				CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.602	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	0	0	0	24	24	76	0.00	0.00	T			41712320	+1	2	2	19	87	tier1	no_errors	ENST00000310054	ensembl	human	known	74_37	frame_shift_del	9.52	2.25	DEL	1.000	-	2	19
