#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
DSCAM	1826	genome.wustl.edu	37	21	41385063	41385063	+	Silent	SNP	C	C	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr21:41385063C>G	ENST00000400454.1	-	33	6414	c.5937G>C	c.(5935-5937)ctG>ctC	p.L1979L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1979				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCCTGTCCCAGCTCTGCTC	0.587													ENSG00000171587																									Melanoma(134;970 1778 1785 21664 32388)												0													48.0	48.0	48.0					21																	41385063		1954	4150	6104	SO:0001819	synonymous_variant	0			-	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5937G>C	21.37:g.41385063C>G			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1979	ENST00000400454.1	37	c.5937	CCDS42929.1	21																																																																																			-	DSCAM	-	NULL		0.587	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	0	0	0	56	56	47	0.00	0.00	C	NM_001389		41385063	-1	27	22	33	53	tier1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	45.00	29.33	SNP	1.000	G	27	33
COL5A3	50509	genome.wustl.edu	37	19	10083634	10083634	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10083634C>G	ENST00000264828.3	-	51	3820	c.3735G>C	c.(3733-3735)aaG>aaC	p.K1245N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1245	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGACCTTTCTTGCCTGGGG	0.597													ENSG00000080573																																					0													41.0	33.0	36.0					19																	10083634		2203	4300	6503	SO:0001583	missense	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3735G>C	19.37:g.10083634C>G	ENSP00000264828:p.Lys1245Asn		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K1245N	ENST00000264828.3	37	c.3735	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397330	0.42512	.	.	ENSG00000080573	ENST00000264828	D	0.96587	-4.06	4.73	2.56	0.30785	.	0.411149	0.23016	U	0.052917	D	0.92737	0.7691	N	0.16567	0.415	0.28697	N	0.904265	D	0.67145	0.996	P	0.53649	0.731	D	0.87248	0.2271	10	0.18710	T	0.47	.	9.194	0.37217	0.0:0.8186:0.0:0.1814	.	1245	P25940	CO5A3_HUMAN	N	1245	ENSP00000264828:K1245N	ENSP00000264828:K1245N	K	-	3	2	COL5A3	9944634	0.240000	0.23847	1.000000	0.80357	0.984000	0.73092	-0.176000	0.09811	0.587000	0.29643	0.561000	0.74099	AAG	-	COL5A3	-	NULL		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0	0	79	79	59	0.00	0.00	C	NM_015719		10083634	-1	22	22	66	71	tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	25.00	23.66	SNP	1.000	G	22	66
CHST1	8534	genome.wustl.edu	37	11	45671339	45671339	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:45671339C>T	ENST00000308064.2	-	4	1805	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	379					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGGCCAGCACCTGCTGGCAG	0.662													ENSG00000175264																																					0													46.0	49.0	48.0					11																	45671339		2202	4297	6499	SO:0001583	missense	0			-	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1135G>A	11.37:g.45671339C>T	ENSP00000309270:p.Val379Met		D3DQP2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.V379M	ENST00000308064.2	37	c.1135	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306888	0.40795	.	.	ENSG00000175264	ENST00000308064	D	0.82711	-1.64	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.139015	0.48767	D	0.000179	T	0.80824	0.4697	L	0.58428	1.81	0.37751	D	0.925979	B	0.33777	0.425	B	0.38020	0.263	T	0.81215	-0.1034	10	0.33141	T	0.24	-25.6381	12.5562	0.56254	0.1665:0.8335:0.0:0.0	.	379	O43916	CHST1_HUMAN	M	379	ENSP00000309270:V379M	ENSP00000309270:V379M	V	-	1	0	CHST1	45627915	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.607000	0.61133	2.099000	0.63709	0.313000	0.20887	GTG	-	CHST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	0	0	0	91	91	19	0.00	0.00	C	NM_003654		45671339	-1	25	8	57	12	tier1	no_errors	ENST00000308064	ensembl	human	known	74_37	missense	30.49	40.00	SNP	1.000	T	25	57
BAALC	79870	genome.wustl.edu	37	8	104210364	104210364	+	Intron	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:104210364G>C	ENST00000297574.6	+	2	299				RP11-318M2.2_ENST00000523915.1_RNA|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000309982.5_Intron|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000330955.5_Missense_Mutation_p.Q66H			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic							cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTGCCCTACAGAAAGTTGGGC	0.353													ENSG00000164929																																					0																																										SO:0001627	intron_variant	0			-	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.161-2522G>C	8.37:g.104210364G>C			Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	pfam_BAALC	p.Q66H	ENST00000297574.6	37	c.198		8	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141776	0.21205	.	.	ENSG00000164929	ENST00000330955	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33240	-0.9876	5	0.62326	D	0.03	.	9.1157	0.36755	0.0:0.0:1.0:0.0	.	.	.	.	H	66	.	ENSP00000331579:Q66H	Q	+	3	2	BAALC	104279540	0.007000	0.16637	0.010000	0.14722	0.013000	0.08279	1.228000	0.32588	1.847000	0.53656	0.545000	0.68477	CAG	-	BAALC	-	NULL		0.353	BAALC-003	KNOWN	basic	protein_coding	BAALC	HGNC	protein_coding	OTTHUMT00000380257.1	0	0	0	59	59	86	0.00	0.00	G			104210364	+1	20	35	61	92	tier1	no_errors	ENST00000330955	ensembl	human	putative	74_37	missense	24.69	27.56	SNP	0.011	C	20	61
INTS4L1	285905	genome.wustl.edu	37	7	64613446	64613446	+	RNA	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:64613446G>A	ENST00000587624.1	+	0	236							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATGATGCGTTTGGAAAAA	0.338													ENSG00000164669																																					0																																												0			-			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64613446G>A				R	SNP	-	NULL	ENST00000587624.1	37	NULL		7																																																																																			-	INTS4L1	-	-		0.338	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	INTS4L1	HGNC	pseudogene	OTTHUMT00000460821.1	0	0	0	55	55	17	0.00	0.00	G	XR_041315		64613446	+1	19	7	52	28	tier1	no_errors	ENST00000587624	ensembl	human	known	74_37	rna	26.76	20.00	SNP	0.915	A	19	52
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993507	31993507	+	RNA	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr16:31993507C>T	ENST00000568570.1	+	0	317																											GGGCCGAGGGCGAGGTGAGGG	0.672													ENSG00000260628																																					0																																												0			-																													16.37:g.31993507C>T				R	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			-	RP11-1166P10.1	-	-		0.672	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	0	0	0	37	37	18	0.00	0.00	C			31993507	+1	16	7	42	17	tier1	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	27.59	29.17	SNP	1.000	T	16	42
EPHA8	2046	genome.wustl.edu	37	1	22927488	22927488	+	Missense_Mutation	SNP	G	G	A	rs146856523	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:22927488G>A	ENST00000166244.3	+	15	2708	c.2636G>A	c.(2635-2637)cGg>cAg	p.R879Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	879	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACAAGGACCGGGCGCAGCGG	0.662													ENSG00000070886	G|||	10	0.00199681	0.0	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0102																0								G	GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		2636	4.9	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA8	NM_020526.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	879/1006	22927488	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2636G>A	1.37:g.22927488G>A	ENSP00000166244:p.Arg879Gln		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R879Q	ENST00000166244.3	37	c.2636	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.896527	0.97081	0.0	1.16E-4	ENSG00000070886	ENST00000166244	T	0.62105	0.05	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	P	0.58520	0.84	T	0.69533	-0.5120	10	0.87932	D	0	.	16.8659	0.86029	0.0:0.0:1.0:0.0	.	879	P29322	EPHA8_HUMAN	Q	879	ENSP00000166244:R879Q	ENSP00000166244:R879Q	R	+	2	0	EPHA8	22800075	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	CGG	rs146856523	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	0	0	0	31	31	12	0.00	0.00	G	NM_020526		22927488	+1	14	4	33	11	tier1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	29.79	26.67	SNP	1.000	A	14	33
SP5	389058	genome.wustl.edu	37	2	171570607	171570607	+	5'Flank	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:171570607G>T	ENST00000375281.3	+	0	0				AC007405.2_ENST00000409786.1_Missense_Mutation_p.A116E	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor						bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCCTGCAAGCGCGACCCTGCC	0.662													ENSG00000222033																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053		2.37:g.171570607G>T	Exception_encountered			Missense_Mutation	SNP	NULL	p.A116E	ENST00000375281.3	37	c.347	CCDS33322.1	2	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820316	0.16678	.	.	ENSG00000222033	ENST00000409786	.	.	.	3.29	-0.8	0.10897	.	.	.	.	.	T	0.47525	0.1450	.	.	.	.	.	.	D	0.63880	0.993	P	0.60236	0.871	T	0.50575	-0.8812	6	0.87932	D	0	.	0.5118	0.00597	0.2483:0.1958:0.3559:0.2	.	116	E9PB92	.	E	116	.	ENSP00000387118:A116E	A	-	2	0	AC007405.2	171278853	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.101000	0.03336	-0.182000	0.10602	0.462000	0.41574	GCG	-	AC007405.2	-	NULL		0.662	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222033	Clone_based_vega_gene	protein_coding	OTTHUMT00000333670.1	0	0	0	26	26	18	0.00	0.00	G	XM_371581		171570607	-1	7	7	12	12	tier1	no_errors	ENST00000409786	ensembl	human	novel	74_37	missense	36.84	36.84	SNP	0.000	T	7	12
OR13D1	286365	genome.wustl.edu	37	9	107457047	107457047	+	Silent	SNP	T	T	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:107457047T>A	ENST00000318763.5	+	1	388	c.345T>A	c.(343-345)atT>atA	p.I115I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAATGCTTATTATATTTATGT	0.458													ENSG00000179055																																					0													210.0	212.0	211.0					9																	107457047		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.345T>A	9.37:g.107457047T>A			B9EIS1|Q6IFL1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I115	ENST00000318763.5	37	c.345	CCDS35094.1	9																																																																																			-	OR13D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	0	0	0	36	36	73	0.00	0.00	T			107457047	+1	18	29	30	106	tier1	no_errors	ENST00000318763	ensembl	human	known	74_37	silent	37.50	21.48	SNP	0.000	A	18	30
TP53	7157	genome.wustl.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121.0	85.0	97.0					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	-	TP53	-	-		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	26	26	76	0.00	0.00	C	NM_000546	Intron	7577498	-1	21	24	11	40	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	65.62	37.50	SNP	1.000	T	21	11
MYH10	4628	genome.wustl.edu	37	17	8422225	8422225	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:8422225C>A	ENST00000269243.4	-	18	2362	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	MYH10_ENST00000396239.1_Missense_Mutation_p.D763Y|MYH10_ENST00000379980.4_Missense_Mutation_p.D758Y|MYH10_ENST00000360416.3_Missense_Mutation_p.D773Y	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	742	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTTTACCATCCATAAAACCT	0.308													ENSG00000133026																																					0													88.0	84.0	86.0					17																	8422225		2203	4300	6503	SO:0001583	missense	0			-	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2224G>T	17.37:g.8422225C>A	ENSP00000269243:p.Asp742Tyr		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D763Y	ENST00000269243.4	37	c.2287	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536059	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.88664	-0.83;-0.83;-2.41;-0.83	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98581	1.0650	10	0.87932	D	0	.	18.417	0.90574	0.0:1.0:0.0:0.0	.	751;773;742	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Y	742;773;763;758	ENSP00000269243:D742Y;ENSP00000353590:D773Y;ENSP00000379539:D763Y;ENSP00000369315:D758Y	ENSP00000269243:D742Y	D	-	1	0	MYH10	8362950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.574000	0.86865	0.650000	0.86243	GAT	-	MYH10	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.308	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	0	0	0	141	141	134	0.00	0.00	C			8422225	-1	54	57	111	145	tier1	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	32.73	28.22	SNP	1.000	A	54	111
KIF4B	285643	genome.wustl.edu	37	5	154395666	154395666	+	Silent	SNP	T	T	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:154395666T>C	ENST00000435029.4	+	1	2407	c.2247T>C	c.(2245-2247)aaT>aaC	p.N749N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	749	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTGGAAATGAAATTGAGG	0.468													ENSG00000226650																																					0													83.0	80.0	81.0					5																	154395666		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2247T>C	5.37:g.154395666T>C				Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N749	ENST00000435029.4	37	c.2247	CCDS47324.1	5																																																																																			-	KIF4B	-	NULL		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	0	0	0	112	112	36	0.00	0.00	T			154395666	+1	35	20	80	29	tier1	no_errors	ENST00000435029	ensembl	human	known	74_37	silent	30.43	40.82	SNP	1.000	C	35	80
DNAJC5B	85479	genome.wustl.edu	37	8	66963819	66963819	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:66963819C>T	ENST00000276570.5	+	3	324	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	13						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAGCGGACTCTGTCAACAAC	0.413													ENSG00000147570																																					0													138.0	127.0	130.0					8																	66963819		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.37C>T	8.37:g.66963819C>T			Q969Y8	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L13	ENST00000276570.5	37	c.37	CCDS6183.1	8																																																																																			-	DJC5B	-	superfamily_DnaJ_domain		0.413	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJC5B	HGNC	protein_coding	OTTHUMT00000378915.1	0	0	0	47	47	131	0.00	0.00	C	NM_033105		66963819	+1	27	39	50	105	tier1	no_errors	ENST00000276570	ensembl	human	known	74_37	silent	35.06	26.90	SNP	0.000	T	27	50
MARCO	8685	genome.wustl.edu	37	2	119739778	119739778	+	Silent	SNP	A	A	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:119739778A>G	ENST00000327097.4	+	11	1083	c.948A>G	c.(946-948)ggA>ggG	p.G316G	MARCO_ENST00000541757.1_Silent_p.G238G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	316	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGCAGTGGGACACCCAGGTG	0.622													ENSG00000019169																									GBM(8;18 374 7467 11269 32796)												0													61.0	66.0	64.0					2																	119739778		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.948A>G	2.37:g.119739778A>G			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G316	ENST00000327097.4	37	c.948	CCDS2124.1	2																																																																																			-	MARCO	-	NULL		0.622	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	0	0	0	36	36	33	0.00	0.00	A	NM_006770		119739778	+1	13	17	29	35	tier1	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	30.95	32.69	SNP	0.284	G	13	29
RNF125	54941	genome.wustl.edu	37	18	29648343	29648343	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr18:29648343C>A	ENST00000217740.3	+	6	1187	c.695C>A	c.(694-696)aCa>aAa	p.T232K	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	232				T -> A (in Ref. 2; AAH12021). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCGAACACCACATAATTTTAT	0.363													ENSG00000101695																																					0													50.0	53.0	52.0					18																	29648343		2202	4300	6502	SO:0001583	missense	0			-	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.695C>A	18.37:g.29648343C>A	ENSP00000217740:p.Thr232Lys		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T232K	ENST00000217740.3	37	c.695	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577981	0.65878	.	.	ENSG00000101695	ENST00000217740	D	0.82803	-1.65	5.89	4.97	0.65823	.	0.106709	0.42294	D	0.000730	T	0.67776	0.2929	N	0.08118	0	0.28831	N	0.897141	B	0.27853	0.191	B	0.26770	0.073	T	0.66638	-0.5873	10	0.72032	D	0.01	-4.6131	12.1949	0.54292	0.0:0.8289:0.1711:0.0	.	232	Q96EQ8	RN125_HUMAN	K	232	ENSP00000217740:T232K	ENSP00000217740:T232K	T	+	2	0	RNF125	27902341	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	1.511000	0.35801	2.783000	0.95769	0.655000	0.94253	ACA	-	RNF125	-	NULL		0.363	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	0	0	0	114	114	139	0.00	0.00	C	NM_017831		29648343	+1	38	60	59	135	tier1	no_errors	ENST00000217740	ensembl	human	known	74_37	missense	39.18	30.77	SNP	1.000	A	38	59
ADAM11	4185	genome.wustl.edu	37	17	42852679	42852679	+	Splice_Site	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:42852679G>T	ENST00000200557.6	+	15	1489	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ADAM11_ENST00000535346.1_Splice_Site_p.K240N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	440					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCCCTCAAGGTACCAGCCC	0.677													ENSG00000073670																																					0													45.0	50.0	48.0					17																	42852679		2203	4300	6503	SO:0001630	splice_region_variant	0			-	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1320+1G>T	17.37:g.42852679G>T			Q14808|Q14809|Q14810	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K440N	ENST00000200557.6	37	c.1320	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.300637	0.95601	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.02395	4.31;4.76	4.62	4.62	0.57501	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.01401	-1.1364	10	0.42905	T	0.14	.	16.3861	0.83504	0.0:0.0:1.0:0.0	.	240;440	B4DKD2;O75078	.;ADA11_HUMAN	N	440;240;340	ENSP00000200557:K440N;ENSP00000443773:K240N	ENSP00000200557:K440N	K	+	3	2	ADAM11	40208205	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.164000	0.71885	2.402000	0.81655	0.549000	0.68633	AAG	-	ADAM11	-	NULL		0.677	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	0	0	0	61	61	45	0.00	0.00	G	NM_002390	Missense_Mutation	42852679	+1	18	18	57	59	tier1	no_errors	ENST00000200557	ensembl	human	known	74_37	missense	24.00	23.38	SNP	1.000	T	18	57
SIDT2	51092	genome.wustl.edu	37	11	117053257	117053257	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:117053257A>C	ENST00000324225.4	+	5	1070	c.539A>C	c.(538-540)gAa>gCa	p.E180A	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.E180A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	180					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GAGTTCCCTGAAGGCGTGGAC	0.542													ENSG00000149577																																					0													132.0	107.0	116.0					11																	117053257		2201	4296	6497	SO:0001583	missense	0			-	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.539A>C	11.37:g.117053257A>C	ENSP00000314023:p.Glu180Ala		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.E180A	ENST00000324225.4	37	c.539	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149839	0.78001	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.73	4.73	0.59995	.	0.169979	0.50627	D	0.000118	T	0.34774	0.0909	M	0.66939	2.045	0.51012	D	0.999904	B;B;P;B	0.42296	0.38;0.184;0.775;0.433	B;B;P;P	0.45660	0.24;0.035;0.489;0.477	T	0.09487	-1.0672	10	0.33940	T	0.23	-12.9557	14.6587	0.68852	1.0:0.0:0.0:0.0	.	180;180;180;180	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	A	180;180;180;30;79	ENSP00000314023:E180A;ENSP00000278951:E180A;ENSP00000399635:E180A;ENSP00000436983:E30A	ENSP00000278951:E180A	E	+	2	0	SIDT2	116558467	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	6.840000	0.75369	2.118000	0.64928	0.533000	0.62120	GAA	-	SIDT2	-	NULL		0.542	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	0	0	0	62	62	127	0.00	0.00	A	NM_015996		117053257	+1	15	31	29	88	tier1	no_errors	ENST00000278951	ensembl	human	known	74_37	missense	34.09	26.05	SNP	0.996	C	15	29
RC3H2	54542	genome.wustl.edu	37	9	125627715	125627715	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:125627715C>A	ENST00000373670.1	-	9	2147	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	RC3H2_ENST00000423239.2_Missense_Mutation_p.R516I|RC3H2_ENST00000357244.2_Missense_Mutation_p.R516I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	516					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCAGAGCTCTTAAGGTACT	0.438													ENSG00000056586																																					0													128.0	121.0	123.0					9																	125627715		1897	4109	6006	SO:0001583	missense	0			-	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1547G>T	9.37:g.125627715C>A	ENSP00000362774:p.Arg516Ile		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R516I	ENST00000373670.1	37	c.1547	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.46819	0.86;0.86;0.88	5.97	5.97	0.96955	.	0.142736	0.56097	D	0.000040	T	0.49287	0.1548	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.71870	0.944;0.975	T	0.52094	-0.8621	10	0.32370	T	0.25	-29.1513	17.5798	0.87963	0.0:1.0:0.0:0.0	.	516;516	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	I	516;516;387;516	ENSP00000362774:R516I;ENSP00000349783:R516I;ENSP00000411767:R516I	ENSP00000349783:R516I	R	-	2	0	RC3H2	124667536	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.194000	0.51005	2.834000	0.97654	0.650000	0.86243	AGA	-	RC3H2	-	NULL		0.438	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	0	0	0	116	116	141	0.00	0.00	C	NM_018835		125627715	-1	26	47	63	117	tier1	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	29.21	28.66	SNP	1.000	A	26	63
GPR78	27201	genome.wustl.edu	37	4	8588802	8588802	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGTGCCCTTCGTCACCGTGA	0.657													ENSG00000155269																																					0													36.0	36.0	36.0					4																	8588802		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.804C>T	4.37:g.8588802C>T			Q8NGV3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F268	ENST00000382487.4	37	c.804	CCDS3403.1	4																																																																																			-	GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	0	0	0	107	107	27	0.00	0.00	C			8588802	+1	22	16	79	20	tier1	no_errors	ENST00000382487	ensembl	human	known	74_37	silent	21.78	43.24	SNP	0.009	T	22	79
SNAP91	9892	genome.wustl.edu	37	6	84368742	84368742	+	Silent	SNP	T	T	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:84368742T>C	ENST00000439399.2	-	6	838	c.522A>G	c.(520-522)caA>caG	p.Q174Q	SNAP91_ENST00000520213.1_Silent_p.Q174Q|SNAP91_ENST00000520302.1_Silent_p.Q174Q|SNAP91_ENST00000521743.1_Silent_p.Q174Q|SNAP91_ENST00000195649.6_Silent_p.Q174Q|SNAP91_ENST00000437520.1_Silent_p.Q174Q|SNAP91_ENST00000428679.2_Silent_p.Q174Q|SNAP91_ENST00000521485.1_Silent_p.Q174Q|SNAP91_ENST00000369694.2_Silent_p.Q174Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	174					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTGCATCAATTTGTCCCTGTA	0.363													ENSG00000065609																																					0													94.0	97.0	96.0					6																	84368742		1889	4108	5997	SO:0001819	synonymous_variant	0			-	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.522A>G	6.37:g.84368742T>C			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q174	ENST00000439399.2	37	c.522	CCDS47455.1	6																																																																																			-	SP91	-	pfam_ANTH_dom		0.363	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SP91	HGNC	protein_coding	OTTHUMT00000375296.1	0	0	0	61	61	76	0.00	0.00	T			84368742	-1	11	23	41	77	tier1	no_errors	ENST00000369694	ensembl	human	known	74_37	silent	21.15	22.77	SNP	0.998	C	11	41
FAM167A	83648	genome.wustl.edu	37	8	11280926	11280926	+	3'UTR	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:11280926G>A	ENST00000284486.4	-	0	2139				C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR|C8orf12_ENST00000529305.1_Intron	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGTTGTTTAGGTCAGGCACAA	0.458													ENSG00000154319																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000284486.4:c.*956C>T	8.37:g.11280926G>A			A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	R	SNP	-	NULL	ENST00000284486.4	37	NULL	CCDS5981.1	8																																																																																			-	FAM167A	-	-		0.458	FAM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM167A	HGNC	protein_coding	OTTHUMT00000251513.2	0	0	0	43	43	70	0.00	0.00	G			11280926	-1	4	36	41	83	tier1	no_errors	ENST00000531564	ensembl	human	known	74_37	rna	8.89	30.25	SNP	0.006	A	4	41
DNAH7	56171	genome.wustl.edu	37	2	196709754	196709754	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:196709754A>G	ENST00000312428.6	-	47	9017	c.8917T>C	c.(8917-8919)Ttt>Ctt	p.F2973L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2973	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAATGGAAAATGAGTCAGAA	0.343													ENSG00000118997																																					0													84.0	76.0	78.0					2																	196709754		1833	4082	5915	SO:0001583	missense	0			-	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8917T>C	2.37:g.196709754A>G	ENSP00000311273:p.Phe2973Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.F2973L	ENST00000312428.6	37	c.8917	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894552	0.91962	.	.	ENSG00000118997	ENST00000312428	T	0.64438	-0.1	5.42	5.42	0.78866	.	0.000000	0.47093	U	0.000243	T	0.71298	0.3323	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66787	-0.5835	10	0.22706	T	0.39	.	15.2879	0.73843	1.0:0.0:0.0:0.0	.	2973	Q8WXX0	DYH7_HUMAN	L	2973	ENSP00000311273:F2973L	ENSP00000311273:F2973L	F	-	1	0	DNAH7	196417999	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.182000	0.89698	2.276000	0.75962	0.528000	0.53228	TTT	-	DH7	-	NULL		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH7	HGNC	protein_coding	OTTHUMT00000335202.3	0	0	0	119	119	61	0.00	0.00	A	NM_018897		196709754	-1	40	32	81	77	tier1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	33.06	29.36	SNP	0.997	G	40	81
CLMN	79789	genome.wustl.edu	37	14	95669657	95669657	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr14:95669657C>T	ENST00000298912.4	-	9	2142	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	677					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGAGGTCATCGTCTTCTCCC	0.537													ENSG00000165959																																					0													102.0	92.0	95.0					14																	95669657		2203	4300	6503	SO:0001583	missense	0			-	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2029G>A	14.37:g.95669657C>T	ENSP00000298912:p.Asp677Asn		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D677N	ENST00000298912.4	37	c.2029	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035884	0.35893	.	.	ENSG00000165959	ENST00000298912	D	0.93019	-3.15	5.17	1.07	0.20283	.	0.773236	0.10952	N	0.615954	D	0.84999	0.5597	L	0.29908	0.895	0.09310	N	1	P	0.44006	0.824	B	0.33121	0.158	T	0.73186	-0.4062	10	0.26408	T	0.33	.	8.8266	0.35059	0.0:0.4806:0.4345:0.0848	.	677	Q96JQ2	CLMN_HUMAN	N	677	ENSP00000298912:D677N	ENSP00000298912:D677N	D	-	1	0	CLMN	94739410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.277000	0.18734	0.243000	0.21327	-0.181000	0.13052	GAT	-	CLMN	-	NULL		0.537	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	0	0	0	28	28	71	0.00	0.00	C			95669657	-1	5	28	35	84	tier1	no_errors	ENST00000298912	ensembl	human	known	74_37	missense	12.50	25.00	SNP	0.000	T	5	35
FLNA	2316	genome.wustl.edu	37	X	153590144	153590144	+	Silent	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:153590144G>A	ENST00000369850.3	-	20	3074	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	FLNA_ENST00000344736.4_Silent_p.G946G|FLNA_ENST00000422373.1_Silent_p.G946G|FLNA_ENST00000360319.4_Silent_p.G946G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	946					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACATTGACGCCTACTGGAC	0.572													ENSG00000196924																																					0													72.0	69.0	70.0					X																	153590144		1933	4112	6045	SO:0001819	synonymous_variant	0			-	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2838C>T	X.37:g.153590144G>A			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G946	ENST00000369850.3	37	c.2838	CCDS48194.1	X																																																																																			-	FL	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FL	HGNC	protein_coding	OTTHUMT00000058942.3	0	0	0	37	37	66	0.00	0.00	G			153590144	-1	10	27	22	74	tier1	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	31.25	26.73	SNP	0.001	A	10	22
ANAPC5	51433	genome.wustl.edu	37	12	121766222	121766222	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr12:121766222C>T	ENST00000261819.3	-	10	1322	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	ANAPC5_ENST00000344395.4_Missense_Mutation_p.A289T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A289T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A67T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A388T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	401					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTAGGGCATCCATCAGC	0.537													ENSG00000089053																																					0													153.0	118.0	130.0					12																	121766222		2203	4300	6503	SO:0001583	missense	0			-	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1201G>A	12.37:g.121766222C>T	ENSP00000261819:p.Ala401Thr		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.A401T	ENST00000261819.3	37	c.1201	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907914	0.92107	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.992;0.997	P;P;P;D	0.65140	0.805;0.851;0.903;0.932	T	0.56848	-0.7911	9	0.12766	T	0.61	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	67;3;289;401	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	289;388;401;67;3;289	.	ENSP00000261819:A401T	A	-	1	0	ANAPC5	120250605	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCC	-	APC5	-	NULL		0.537	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APC5	HGNC	protein_coding	OTTHUMT00000402582.1	0	0	0	47	47	75	0.00	0.00	C			121766222	-1	11	22	35	88	tier1	no_errors	ENST00000261819	ensembl	human	known	74_37	missense	23.91	20.00	SNP	1.000	T	11	35
PRUNE2	158471	genome.wustl.edu	37	9	79259430	79259430	+	Intron	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:79259430G>A	ENST00000376718.3	-	12	8852				PRUNE2_ENST00000428286.1_Intron|PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000443509.2_Intron|PRUNE2_ENST00000466266.2_Intron	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATGTAGCATGAAAAGCCCGT	0.328													ENSG00000106772																																					0																																										SO:0001627	intron_variant	0			-	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8728+224C>T	9.37:g.79259430G>A			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	R	SNP	-	NULL	ENST00000376718.3	37	NULL	CCDS47982.1	9																																																																																			-	PRUNE2	-	-		0.328	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	0	0	0	15	15	63	0.00	0.00	G	NM_138818		79259430	-1	4	15	11	83	tier1	no_errors	ENST00000488346	ensembl	human	known	74_37	rna	26.67	15.15	SNP	0.000	A	4	11
DNAH8	1769	genome.wustl.edu	37	6	38994431	38994431	+	Silent	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:38994431G>T	ENST00000359357.3	+	90	13427	c.13173G>T	c.(13171-13173)acG>acT	p.T4391T	DNAH8_ENST00000441566.1_Silent_p.T4355T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4391					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATCACGTCACCCCCTG	0.532													ENSG00000124721																																					0													111.0	84.0	93.0					6																	38994431		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13173G>T	6.37:g.38994431G>T			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T4391	ENST00000359357.3	37	c.13173		6																																																																																			-	DH8	-	pfam_Dynein_heavy_dom		0.532	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0	0	28	28	77	0.00	0.00	G	NM_001206927		38994431	+1	7	40	31	70	tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	18.42	36.36	SNP	0.000	T	7	31
GPR64	10149	genome.wustl.edu	37	X	19014264	19014264	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:19014264delA	ENST00000379869.3	-	27	2784	c.2621delT	c.(2620-2622)ttcfs	p.F874fs	GPR64_ENST00000379878.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000357544.3_Frame_Shift_Del_p.F844fs|GPR64_ENST00000356606.4_Frame_Shift_Del_p.F860fs|GPR64_ENST00000354791.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000340581.3_Frame_Shift_Del_p.F755fs|GPR64_ENST00000379873.2_Frame_Shift_Del_p.F874fs|GPR64_ENST00000357991.3_Frame_Shift_Del_p.F871fs|GPR64_ENST00000379876.1_Frame_Shift_Del_p.F850fs|GPR64_ENST00000360279.4_Frame_Shift_Del_p.F852fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	874					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GATGAATATGAAAAATCCTAA	0.363													ENSG00000173698																																					0													86.0	88.0	87.0					X																	19014264		2203	4300	6503	SO:0001589	frameshift_variant	0				X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2621delT	X.37:g.19014264delA	ENSP00000369198:p.Phe874fs		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F874fs	ENST00000379869.3	37	c.2621	CCDS43923.1	X																																																																																				GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.363	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	0	0	0	257	257	90	0.00	0.00	A			19014264	-1	69	49	342	220	tier1	no_errors	ENST00000379869	ensembl	human	known	74_37	frame_shift_del	16.79	18.22	DEL	1.000	-	69	342
MUC5B	727897	genome.wustl.edu	37	11	1271489	1271489	+	Missense_Mutation	SNP	C	C	T	rs200985531	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:1271489C>T	ENST00000529681.1	+	31	13437	c.13379C>T	c.(13378-13380)aCg>aTg	p.T4460M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4463M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4460	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCGTGACGGTGCCCACC	0.672													ENSG00000117983	C|||	59	0.0117812	0.0182	0.0072	5008	,	,		19151	0.0		0.0249	False		,,,				2504	0.0051																0								C	MET/THR	58,3848		0,58,1895	45.0	53.0	51.0		13379	-1.6	0.0	11		51	8,8168		0,8,4080	no	missense	MUC5B	NM_002458.2	81	0,66,5975	TT,TC,CC		0.0978,1.4849,0.5463	probably-damaging	4460/5763	1271489	66,12016	1953	4088	6041	SO:0001583	missense	0			-	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13379C>T	11.37:g.1271489C>T	ENSP00000436812:p.Thr4460Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4463M	ENST00000529681.1	37	c.13388	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	4.282	0.051422	0.08291	0.014849	9.78E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.27890	1.64;1.83	1.61	-1.6	0.08426	.	.	.	.	.	T	0.15696	0.0378	L	0.54323	1.7	0.09310	N	1	D;D	0.60160	0.987;0.987	B;B	0.37650	0.202;0.255	T	0.13019	-1.0525	9	0.87932	D	0	.	5.2016	0.15267	0.2312:0.5423:0.2265:0.0	.	4933;4463	A7Y9J9;E9PBJ0	.;.	M	4460;4463;4404;4310;239	ENSP00000436812:T4460M;ENSP00000415793:T4463M	ENSP00000343037:T4404M	T	+	2	0	MUC5B	1228065	0.011000	0.17503	0.000000	0.03702	0.028000	0.11728	2.803000	0.47924	-0.562000	0.06086	0.121000	0.15741	ACG	rs200985531	MUC5B	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0	0	69	69	6	0.00	0.00	C	XM_001126093		1271489	+1	16	8	46	5	tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	25.81	61.54	SNP	0.001	T	16	46
TRIM64C	646754	genome.wustl.edu	37	11	49080482	49080482	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:49080482C>T	ENST00000530230.1	-	1	182	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	61						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGAAGTTGGGCTTCTCTGAGA	0.522													ENSG00000214891																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.183G>A	11.37:g.49080482C>T				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K61	ENST00000530230.1	37	c.183		11																																																																																			-	TRIM64C	-	NULL		0.522	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	1	1	0	141	141	31	0.70	0.00	C			49080482	-1	12	4	129	37	tier1	no_errors	ENST00000530230	ensembl	human	known	74_37	silent	8.51	9.76	SNP	0.004	T	12	129
SEMA3A	10371	genome.wustl.edu	37	7	83591051	83591051	+	Missense_Mutation	SNP	G	G	A	rs150205475		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:83591051G>A	ENST00000265362.4	-	17	2266	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A651V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	651	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGTTCCACCGCATGGCAGAG	0.433													ENSG00000075213	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0																0													105.0	94.0	98.0					7																	83591051		2203	4299	6502	SO:0001583	missense	0			GMAF=0.0005	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1952C>T	7.37:g.83591051G>A	ENSP00000265362:p.Ala651Val			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A651V	ENST00000265362.4	37	c.1952	CCDS5599.1	7	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.6	4.659451	0.88154	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01725	4.67;4.67	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	M	0.83774	2.66	0.80722	D	1	D	0.60160	0.987	P	0.48552	0.581	T	0.00455	-1.1729	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	651	Q14563	SEM3A_HUMAN	V	651	ENSP00000265362:A651V;ENSP00000415260:A651V	ENSP00000265362:A651V	A	-	2	0	SEMA3A	83428987	1.000000	0.71417	0.832000	0.32986	0.877000	0.50540	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	GCG	rs150205475	SEMA3A	-	smart_Ig_sub,pfscan_Ig-like_dom		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	0	0	1	58	58	103	0.00	0.96	G	NM_006080		83591051	-1	14	13	55	152	tier1	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	20.29	7.88	SNP	1.000	A	14	55
LTC4S	4056	genome.wustl.edu	37	5	179221116	179221116	+	Missense_Mutation	SNP	C	C	A	rs140301841		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:179221116C>A	ENST00000292596.10	+	1	130	c.35C>A	c.(34-36)aCc>aAc	p.T12N	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.T12N	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	12					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	GCTGCTGTCACCCTCCTGGGA	0.627													ENSG00000213316																																					0													157.0	99.0	119.0					5																	179221116		2203	4300	6503	SO:0001583	missense	0			-	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.35C>A	5.37:g.179221116C>A	ENSP00000292596:p.Thr12Asn		Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.T12N	ENST00000292596.10	37	c.35	CCDS34316.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735652	0.49045	.	.	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.69040	0.32;-0.37	3.9	3.01	0.34805	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80644	0.4662	M	0.87827	2.91	0.20873	N	0.999834	D	0.89917	1.0	D	0.91635	0.999	T	0.68891	-0.5289	10	0.59425	D	0.04	0.017	8.1864	0.31341	0.0:0.8838:0.0:0.1162	.	12	Q16873	LTC4S_HUMAN	N	12	ENSP00000292596:T12N;ENSP00000385627:T12N	ENSP00000292596:T12N	T	+	2	0	LTC4S	179153722	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	4.931000	0.63469	1.893000	0.54813	0.462000	0.41574	ACC	-	LTC4S	-	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP		0.627	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTC4S	HGNC	protein_coding	OTTHUMT00000317536.2	0	0	0	71	71	81	0.00	0.00	C	NM_000897		179221116	+1	11	7	69	81	tier1	no_errors	ENST00000292596	ensembl	human	known	74_37	missense	13.75	7.95	SNP	1.000	A	11	69
SGOL1	151648	genome.wustl.edu	37	3	20216049	20216050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:20216049_20216050insT	ENST00000263753.4	-	6	1112_1113	c.973_974insA	c.(973-975)atgfs	p.M325fs	SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000412997.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000452020.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	325					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGATTTGTGCATTTTTTTTTGG	0.317													ENSG00000129810																																					0																																										SO:0001589	frameshift_variant	0				BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.974dupA	3.37:g.20216058_20216058dupT	ENSP00000263753:p.Met325fs		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Frame_Shift_Ins	INS	pfam_Shugoshin_N,pfam_Shugoshin_C	p.M325fs	ENST00000263753.4	37	c.974_973	CCDS33716.1	3																																																																																				SGOL1	-	NULL		0.317	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	0	0	1	22	22	105	0.00	0.94	-	NM_138484		20216050	-1	3	4	20	132	tier1	no_errors	ENST00000263753	ensembl	human	known	74_37	frame_shift_ins	13.04	2.94	INS	0.002:0.000	T	3	20
ICAM5	7087	genome.wustl.edu	37	19	10401797	10401797	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10401797C>T	ENST00000221980.4	+	2	195	c.132C>T	c.(130-132)ttC>ttT	p.F44F	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	44					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGTGGCGTTCGTGGAGCGCG	0.697													ENSG00000105376																																					0													15.0	17.0	16.0					19																	10401797		2190	4270	6460	SO:0001819	synonymous_variant	0			-	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.132C>T	19.37:g.10401797C>T			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.F44	ENST00000221980.4	37	c.132	CCDS12233.1	19																																																																																			-	ICAM5	-	pfam_ICAM_N,prints_ICAM_VCAM_N		0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	0	0	0	61	61	8	0.00	0.00	C	NM_003259		10401797	+1	17	0	40	4	tier1	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	29.82	0.00	SNP	0.963	T	17	40
RP11-440D17.3	0	genome.wustl.edu	37	2	96191372	96191372	+	lincRNA	DEL	A	A	-			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:96191372delA	ENST00000609975.1	-	0	1078				AC009237.8_ENST00000608013.1_RNA																							GAGCGTTGAGAAGGCGCAGGA	0.642													ENSG00000272913																																					0																																												0																																2.37:g.96191372delA				R	DEL	-	NULL	ENST00000609975.1	37	NULL		2																																																																																				RP11-440D17.3	-	-		0.642	RP11-440D17.3-001	KNOWN	basic	lincRNA	ENSG00000272913	Clone_based_vega_gene	lincRNA	OTTHUMT00000472064.1	0	0	0	48	48	2	0.00	0.00	A			96191372	-1	14	0	31	0	tier1	no_errors	ENST00000609975	ensembl	human	known	74_37	rna	31.11	0.00	DEL	0.546	-	14	31
ATP13A3	79572	genome.wustl.edu	37	3	194219220	194219221	+	5'Flank	INS	-	-	TTTTG	rs3077317|rs377149399|rs10662330	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:194219220_194219221insTTTTG	ENST00000439040.1	-	0	0				LINC00884_ENST00000448892.1_RNA|LINC00884_ENST00000437597.1_RNA|AC108676.1_ENST00000455557.2_RNA			Q9H7F0	AT133_HUMAN	ATPase type 13A3							integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAGCTCTTCTTttttgttttgt	0.426													ENSG00000244675		748	0.149361	0.0749	0.2089	5008	,	,		23361	0.1081		0.2256	False		,,,				2504	0.1718																0																																										SO:0001631	upstream_gene_variant	0				AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034		3.37:g.194219226_194219230dupTTTTG	Exception_encountered		Q8NC11|Q96KS1	R	INS	-	NULL	ENST00000439040.1	37	NULL	CCDS43187.1	3																																																																																				AC108676.1	-	-		0.426	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LOC100507033	Clone_based_vega_gene	protein_coding	OTTHUMT00000342799.2	0	0	0	0	0	0	0.00	0.00	-	NM_024524		194219221	-1	0	0	0	0	tier1	no_errors	ENST00000455557	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.000:0.000	TTTTG	0	0
MUC12	10071	genome.wustl.edu	37	7	100644303	100644303	+	Missense_Mutation	SNP	G	G	A	rs144363228	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:100644303G>A	ENST00000379442.3	+	5	10888	c.10888G>A	c.(10888-10890)Gtc>Atc	p.V3630I	MUC12_ENST00000536621.1_Missense_Mutation_p.V3487I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3630	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AAGCTCAGGCGTCAGTGAAGA	0.577													ENSG00000205277	g|||	476	0.0950479	0.0666	0.0821	5008	,	,		93416	0.0744		0.1004	False		,,,				2504	0.1585																0													5.0	6.0	6.0					7																	100644303		338	861	1199	SO:0001583	missense	0			-	AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.10888G>A	7.37:g.100644303G>A	ENSP00000368755:p.Val3630Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.V3487I	ENST00000379442.3	37	c.10459		7	.	.	.	.	.	.	.	.	.	.	g	0.778	-0.763222	0.02996	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11604	2.76;2.76	0.4	-0.8	0.10897	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41556	-0.9502	6	0.31617	T	0.26	.	.	.	.	.	.	.	.	I	3630;3487	ENSP00000368755:V3630I;ENSP00000441929:V3487I	ENSP00000368755:V3630I	V	+	1	0	MUC12	100431023	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.830000	0.04410	-0.545000	0.06224	-0.547000	0.04224	GTC	rs144363228	MUC12	-	NULL		0.577	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	0	0	0	13	13	3	0.00	0.00	G	XM_379904		100644303	+1	6	1	12	4	tier1	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	33.33	20.00	SNP	0.001	A	6	12
NRXN1	9378	genome.wustl.edu	37	2	50147836	50147841	+	3'UTR	DEL	GTGTGT	GTGTGT	-	rs200264093|rs201814381|rs199597709|rs368179294|rs200969250|rs66612444		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	GTGTGT	GTGTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:50147836_50147841delGTGTGT	ENST00000406316.2	-	0	7151_7156				NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTGGATTCgtgtgtgtgtgtgtgt	0.398													ENSG00000179915																																					0																																										SO:0001624	3_prime_UTR_variant	0				AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1246ACACAC>-	2.37:g.50147842_50147847delGTGTGT			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	R	DEL	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																				NRXN1	-	-		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	0	0	0	0	0	0	0.00	0.00	GTGTGT			50147841	-1	0	0	0	0	tier1	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.000:0.001:0.005:0.106:0.113:0.127	-	0	0
RGPD4	285190	genome.wustl.edu	37	2	108459652	108459652	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:108459652G>C	ENST00000408999.3	+	5	670	c.593G>C	c.(592-594)cGt>cCt	p.R198P	RGPD4_ENST00000354986.4_Missense_Mutation_p.R198P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	198					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAGCTTTGCGTTCAAGTTTA	0.433													ENSG00000196862																																					0													1.0	1.0	1.0					2																	108459652		2	5	7	SO:0001583	missense	0			-	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.593G>C	2.37:g.108459652G>C	ENSP00000386810:p.Arg198Pro		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R198P	ENST00000408999.3	37	c.593	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.07	1.249001	0.22880	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.30981	1.51;1.51	2.65	2.65	0.31530	.	.	.	.	.	T	0.34454	0.0898	M	0.66939	2.045	0.21445	N	0.999687	D	0.56521	0.976	P	0.46389	0.515	T	0.17077	-1.0381	9	0.51188	T	0.08	-5.9722	7.2947	0.26387	0.1416:0.0:0.8584:0.0	.	198	Q7Z3J3	RGPD4_HUMAN	P	198;198;141	ENSP00000347081:R198P;ENSP00000386810:R198P	ENSP00000347081:R198P	R	+	2	0	RGPD4	107826084	1.000000	0.71417	0.996000	0.52242	0.265000	0.26407	3.417000	0.52714	1.313000	0.45069	0.184000	0.17185	CGT	-	RGPD4	-	NULL		0.433	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	0	0	0	15	15	0	0.00	0.00	G	XM_496581		108459652	+1	3	0	5	0	tier1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	37.50	0.00	SNP	0.811	C	3	5
ZNF503	84858	genome.wustl.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs533859340|rs374168185	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CCGCCT	CCGCCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000425916.3_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													ENSG00000165655		484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143																0										455,1781		166,123,829						2.8	0.0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	0				AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.GG26in_frame_del	ENST00000372524.4	37	c.77_72	CCDS7350.1	10																																																																																				ZNF503	-	NULL		0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	HGNC	protein_coding	OTTHUMT00000048826.1	0	0	0	0	0	0	0.00	0.00	CCGCCT	NM_032772		77161106	-1	0	0	1	1	tier1	no_errors	ENST00000372524	ensembl	human	known	74_37	in_frame_del	0.00	0.00	DEL	0.963:0.956:0.985:0.989:0.990:0.996	-	0	1
TRIM58	25893	genome.wustl.edu	37	1	248020718	248020718	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:248020718G>C	ENST00000366481.3	+	1	218	c.170G>C	c.(169-171)tGt>tCt	p.C57S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	57						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTACGCCTGTCCGCAGTGC	0.736													ENSG00000162722																																					0													9.0	10.0	10.0					1																	248020718		2184	4281	6465	SO:0001583	missense	0			-	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.170G>C	1.37:g.248020718G>C	ENSP00000355437:p.Cys57Ser		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.C57S	ENST00000366481.3	37	c.170	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376061	0.61735	.	.	ENSG00000162722	ENST00000366481	T	0.54479	0.57	4.19	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.221234	0.31685	N	0.007223	D	0.82296	0.5006	H	0.98446	4.235	0.48830	D	0.999716	D	0.89917	1.0	D	0.80764	0.994	D	0.89065	0.3465	10	0.87932	D	0	.	14.4407	0.67314	0.0:0.0:1.0:0.0	.	57	Q8NG06	TRI58_HUMAN	S	57	ENSP00000355437:C57S	ENSP00000355437:C57S	C	+	2	0	TRIM58	246087341	1.000000	0.71417	0.113000	0.21522	0.013000	0.08279	6.796000	0.75145	2.353000	0.79882	0.650000	0.86243	TGT	-	TRIM58	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.736	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	0	0	0	55	55	2	0.00	0.00	G	NM_015431		248020718	+1	13	4	32	3	tier1	no_errors	ENST00000366481	ensembl	human	known	74_37	missense	28.89	57.14	SNP	0.997	C	13	32
ASAH1	427	genome.wustl.edu	37	8	17942299	17942299	+	5'Flank	SNP	G	G	T	rs191092536		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:17942299G>T	ENST00000262097.6	-	0	0				ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000521775.1_RNA|ASAH1_ENST00000417108.2_5'Flank|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|ASAH1_ENST00000520781.1_5'Flank	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCAGCCCGATGCAGCAGTTCA	0.612											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000104763																																					0													37.0	41.0	39.0					8																	17942299		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17942299G>T	Exception_encountered	721	E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.C4*	ENST00000262097.6	37	c.12	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303246	0.60195	.	.	ENSG00000104763	ENST00000381733;ENST00000314146	.	.	.	2.78	-5.57	0.02521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.0922	10.2689	0.43470	0.0:0.1196:0.71:0.1704	.	.	.	.	X	4	.	ENSP00000326970:C4X	C	-	3	2	ASAH1	17986579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-2.120000	0.00826	-2.017000	0.00434	TGC	-	ASAH1	-	NULL		0.612	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	0	0	0	38	38	77	0.00	0.00	G	NM_004315		17942299	-1	5	2	49	91	tier1	no_errors	ENST00000381733	ensembl	human	known	74_37	nonsense	9.26	2.13	SNP	0.000	T	5	49
