#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
KLHL33	123103	genome.wustl.edu	37	14	20898562	20898562	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:20898562C>G	ENST00000344581.4	-	2	495	c.273G>C	c.(271-273)tgG>tgC	p.W91C		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	91												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		GGGCTTTGCTCCAGAGCCTCT	0.612													ENSG00000185271																																					0													68.0	76.0	73.0					14																	20898562		692	1591	2283	SO:0001583	missense	0			-		CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.273G>C	14.37:g.20898562C>G	ENSP00000341549:p.Trp91Cys			Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1	p.W91C	ENST00000344581.4	37	c.273	CCDS53882.1	14	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811270	0.32053	.	.	ENSG00000185271	ENST00000344581	T	0.68331	-0.32	4.52	4.52	0.55395	BTB/Kelch-associated (2);	0.308958	0.27172	N	0.020596	T	0.59918	0.2229	N	0.11427	0.14	0.44275	D	0.997136	D	0.63046	0.992	P	0.60117	0.869	T	0.64317	-0.6436	10	0.66056	D	0.02	.	8.3957	0.32555	0.0:0.8955:0.0:0.1045	.	91	A6NCF5	KLH33_HUMAN	C	91	ENSP00000341549:W91C	ENSP00000341549:W91C	W	-	3	0	KLHL33	19968402	0.886000	0.30341	1.000000	0.80357	0.995000	0.86356	0.968000	0.29357	2.347000	0.79759	0.655000	0.94253	TGG	-	KLHL33	-	pfam_BACK,smart_BACK		0.612	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL33	HGNC	protein_coding	OTTHUMT00000411038.1	0	0	0	24	24	62	0.00	0.00	C	XM_063481		20898562	-1	7	14	34	75	tier1	no_errors	ENST00000344581	ensembl	human	known	74_37	missense	17.07	15.73	SNP	0.954	G	7	34
DOCK11	139818	genome.wustl.edu	37	X	117744376	117744376	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:117744376C>A	ENST00000276202.7	+	28	3154	c.3091C>A	c.(3091-3093)Ctg>Atg	p.L1031M	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1031M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1031					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCTAGCTTCCTGAAGGTGAG	0.433													ENSG00000147251																																					0													91.0	78.0	82.0					X																	117744376		2203	4300	6503	SO:0001583	missense	0			-	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3091C>A	X.37:g.117744376C>A	ENSP00000276202:p.Leu1031Met		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1031M	ENST00000276202.7	37	c.3091	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038419	0.55003	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75050	-0.9;-0.9	5.14	3.38	0.38709	.	0.071602	0.56097	D	0.000034	T	0.82176	0.4980	M	0.82323	2.585	0.37226	D	0.905459	D;D	0.63046	0.984;0.992	P;P	0.59948	0.823;0.866	T	0.82849	-0.0254	10	0.72032	D	0.01	-6.7619	6.3086	0.21153	0.1471:0.695:0.0:0.1579	.	1031;1031	A6NIW2;Q5JSL3	.;DOC11_HUMAN	M	1031	ENSP00000276204:L1031M;ENSP00000276202:L1031M	ENSP00000276202:L1031M	L	+	1	2	DOCK11	117628404	1.000000	0.71417	0.812000	0.32479	0.901000	0.52897	3.385000	0.52485	0.502000	0.28037	-0.198000	0.12761	CTG	-	DOCK11	-	NULL		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	0	0	0	59	59	30	0.00	0.00	C	NM_144658		117744376	+1	6	8	44	60	tier1	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	12.00	11.76	SNP	0.998	A	6	44
DYNC1I2	1781	genome.wustl.edu	37	2	172602373	172602373	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:172602373A>G	ENST00000397119.3	+	17	1906	c.1739A>G	c.(1738-1740)cAt>cGt	p.H580R	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.H572R|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.H554R|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.H580R|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.H554R|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.H574R|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.H580R|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.H554R|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.H574R|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.H580R|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.H572R	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	580					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGATGGACCCATTCTGGCAGA	0.433													ENSG00000077380																																					0													205.0	202.0	203.0					2																	172602373		1942	4134	6076	SO:0001583	missense	0			-	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1739A>G	2.37:g.172602373A>G	ENSP00000380308:p.His580Arg		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.H580R	ENST00000397119.3	37	c.1739	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012147	0.35511	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.75367	-0.79;-0.93;-0.8;-0.72;-0.56;-0.56;-0.79;-0.8;-0.72;-0.58;-0.56	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088351	0.85682	D	0.000000	T	0.60508	0.2274	N	0.17594	0.5	0.80722	D	1	B;B;B;B;B	0.17268	0.0;0.021;0.007;0.007;0.021	B;B;B;B;B	0.22152	0.001;0.027;0.038;0.038;0.017	T	0.56263	-0.8008	10	0.16420	T	0.52	-3.8319	16.0448	0.80714	1.0:0.0:0.0:0.0	.	303;572;554;554;580	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	R	554;580;574;580;572;554;554;574;580;580;572	ENSP00000339430:H554R;ENSP00000433791:H580R;ENSP00000263811:H574R;ENSP00000380308:H580R;ENSP00000386522:H572R;ENSP00000423339:H554R;ENSP00000386397:H554R;ENSP00000386591:H574R;ENSP00000386415:H580R;ENSP00000386886:H580R;ENSP00000350692:H572R	ENSP00000263811:H574R	H	+	2	0	DYNC1I2	172310619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.221000	0.95188	2.206000	0.71126	0.482000	0.46254	CAT	-	DYNC1I2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.433	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	0	0	0	85	85	79	0.00	0.00	A	NM_001378		172602373	+1	13	13	46	66	tier1	no_errors	ENST00000397119	ensembl	human	known	74_37	missense	22.03	16.46	SNP	1.000	G	13	46
PTPN3	5774	genome.wustl.edu	37	9	112172683	112172683	+	Silent	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr9:112172683C>T	ENST00000374541.2	-	15	1430	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PTPN3_ENST00000446349.1_Silent_p.E266E|PTPN3_ENST00000412145.1_Silent_p.E311E|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000262539.3_Silent_p.E288E	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	442					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCGGATTGTTCTCGGATAAAC	0.483													ENSG00000070159																																					0													81.0	88.0	85.0					9																	112172683		2202	4300	6502	SO:0001819	synonymous_variant	0			-		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1326G>A	9.37:g.112172683C>T			A0AUW9|E7EN99|E9PGU7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E442	ENST00000374541.2	37	c.1326	CCDS6776.1	9																																																																																			-	PTPN3	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.483	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	0	0	0	51	51	100	0.00	0.00	C			112172683	-1	75	63	32	103	tier1	no_errors	ENST00000374541	ensembl	human	known	74_37	silent	70.09	37.95	SNP	1.000	T	75	32
KDM2A	22992	genome.wustl.edu	37	11	67013488	67013488	+	Silent	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr11:67013488C>T	ENST00000529006.2	+	15	2312	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	KDM2A_ENST00000398645.2_Silent_p.L622L|KDM2A_ENST00000530342.1_Silent_p.L183L|KDM2A_ENST00000308783.5_Silent_p.L80L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	622					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CATGTTCCCTCTGTGGAGAGG	0.443													ENSG00000173120																																					0													117.0	115.0	115.0					11																	67013488		1952	4147	6099	SO:0001819	synonymous_variant	0			-	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1866C>T	11.37:g.67013488C>T			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L622	ENST00000529006.2	37	c.1866	CCDS44657.1	11																																																																																			-	KDM2A	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.443	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	0	0	0	48	48	69	0.00	0.00	C	NM_012308		67013488	+1	10	26	25	83	tier1	no_errors	ENST00000529006	ensembl	human	known	74_37	silent	28.57	23.85	SNP	0.997	T	10	25
SATB1	6304	genome.wustl.edu	37	3	18390964	18390964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr3:18390964G>A	ENST00000338745.6	-	11	3724	c.1990C>T	c.(1990-1992)Caa>Taa	p.Q664*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q664*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q696*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	664					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCACGTCTTGTATGAAACTC	0.532													ENSG00000182568																																					0													108.0	109.0	108.0					3																	18390964		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1990C>T	3.37:g.18390964G>A	ENSP00000341024:p.Gln664*		B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.Q696*	ENST00000338745.6	37	c.2086	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.662395	0.97743	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.1	4.23	0.50019	.	0.168155	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-15.4861	13.4057	0.60911	0.0762:0.0:0.9238:0.0	.	.	.	.	X	664;664;696	.	ENSP00000341024:Q664X	Q	-	1	0	SATB1	18365968	1.000000	0.71417	0.906000	0.35671	0.901000	0.52897	7.713000	0.84693	1.140000	0.42260	0.563000	0.77884	CAA	-	SATB1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.532	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	0	0	1	82	82	65	0.00	1.52	G	NM_001131010		18390964	-1	12	10	57	62	tier1	no_errors	ENST00000417717	ensembl	human	known	74_37	nonsense	17.39	13.89	SNP	1.000	A	12	57
PABPC4	8761	genome.wustl.edu	37	1	40030432	40030432	+	Missense_Mutation	SNP	G	G	A	rs567524034		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:40030432G>A	ENST00000372857.3	-	9	2051	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.P420L|PABPC4_ENST00000372862.3_Missense_Mutation_p.P420L|PABPC4_ENST00000372856.3_Missense_Mutation_p.P420L|SNORA55_ENST00000364587.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	420					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATAATATGGAGGCCTTCCCTG	0.498													ENSG00000090621	G|||	1	0.000199681	0.0008	0.0	5008	,	,		19751	0.0		0.0	False		,,,				2504	0.0																0													129.0	117.0	121.0					1																	40030432		2203	4300	6503	SO:0001583	missense	0			-	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1259C>T	1.37:g.40030432G>A	ENSP00000361948:p.Pro420Leu		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P420L	ENST00000372857.3	37	c.1259	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.140404|4.140404	0.77775|0.77775	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.15952	.|2.44;2.42;2.47;2.38	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.052254	.|0.85682	.|D	.|0.000000	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22541	.|0.071;0.0;0.002	.|B;B;B	.|0.23275	.|0.045;0.008;0.004	T|T	0.04678|0.04678	-1.0934|-1.0934	5|10	.|0.21014	.|T	.|0.42	.|.	20.3591|20.3591	0.98849|0.98849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;420;420	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	F|L	322;147|420	.|ENSP00000361953:P420L;ENSP00000361949:P420L;ENSP00000361948:P420L;ENSP00000361947:P420L	.|ENSP00000361947:P420L	L|P	-|-	1|2	0|0	PABPC4|PABPC4	39803019|39803019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.835000|9.835000	0.99442|0.99442	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	CTC|CCT	-	PABPC4	-	tigrfam_PABP_1234		0.498	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	0	0	0	42	42	87	0.00	0.00	G	NM_001135653		40030432	-1	8	25	33	78	tier1	no_errors	ENST00000372858	ensembl	human	known	74_37	missense	19.51	24.27	SNP	1.000	A	8	33
PSRC1	84722	genome.wustl.edu	37	1	109823657	109823657	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:109823657G>A	ENST00000438534.2	-	5	874	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	PSRC1_ENST00000369907.3_Missense_Mutation_p.P216S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P216S|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000409138.2_Missense_Mutation_p.P246S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P216S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P216S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	246	4 X 4 AA repeats of P-X-X-P.|Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GATCTGATGGGGGTGGGTGGG	0.607													ENSG00000134222																																					0													35.0	42.0	40.0					1																	109823657		2203	4300	6503	SO:0001583	missense	0			-		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.736C>T	1.37:g.109823657G>A	ENSP00000413591:p.Pro246Ser		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	NULL	p.P246S	ENST00000438534.2	37	c.736		1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897578	0.33535	.	.	ENSG00000134222	ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031	T;T;T;T;T	0.49720	0.86;0.86;0.77;0.86;0.86	6.17	0.554	0.17241	.	0.411149	0.23876	N	0.043699	T	0.13030	0.0316	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15141	0.006;0.001;0.012	B;B;B	0.15052	0.012;0.007;0.008	T	0.14868	-1.0457	10	0.62326	D	0.03	0.0495	2.2425	0.04023	0.1494:0.1284:0.4582:0.264	.	246;216;216	Q6PGN9;Q6PGN9-2;A8K0M8	PSRC1_HUMAN;.;.	S	216;216;246;216;216;216	ENSP00000386323:P216S;ENSP00000358923:P216S;ENSP00000413591:P246S;ENSP00000358925:P216S;ENSP00000358919:P216S	ENSP00000358919:P216S	P	-	1	0	PSRC1	109625180	0.010000	0.17322	0.001000	0.08648	0.006000	0.05464	0.083000	0.14871	0.481000	0.27557	0.655000	0.94253	CCC	-	PSRC1	-	NULL		0.607	PSRC1-202	KNOWN	basic	protein_coding	PSRC1	HGNC	protein_coding	OTTHUMT00000335567.3	0	0	0	54	54	31	0.00	0.00	G	NM_032636		109823657	-1	20	21	54	31	tier1	no_errors	ENST00000409138	ensembl	human	known	74_37	missense	27.03	40.38	SNP	0.000	A	20	54
MAB21L3	126868	genome.wustl.edu	37	1	116675980	116675980	+	Silent	SNP	G	G	A	rs540660033		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:116675980G>A	ENST00000369500.3	+	7	1348	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	361										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGATCGGCCCGCCCTGATGGT	0.562													ENSG00000173212	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16916	0.0		0.0	False		,,,				2504	0.0																0													39.0	40.0	40.0					1																	116675980		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.1083G>A	1.37:g.116675980G>A			Q5TDL7	Silent	SNP	pfam_Mab-21_dom	p.P361	ENST00000369500.3	37	c.1083	CCDS886.1	1																																																																																			-	MAB21L3	-	NULL		0.562	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L3	HGNC	protein_coding	OTTHUMT00000033486.1	0	0	0	84	84	67	0.00	0.00	G	NM_152367		116675980	+1	12	17	94	41	tier1	no_errors	ENST00000369500	ensembl	human	known	74_37	silent	11.32	29.31	SNP	0.628	A	12	94
EIF4A2	1974	genome.wustl.edu	37	3	186504939	186504939	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr3:186504939T>G	ENST00000323963.5	+	8	859	c.795T>G	c.(793-795)tgT>tgG	p.C265W	RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.C170W|EIF4A2_ENST00000440191.2_Missense_Mutation_p.C266W|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	265	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATACACTTTGTGACTTGTACG	0.408			T	BCL6	NHL								ENSG00000156976																												Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													114.0	116.0	115.0					3																	186504939		2203	4300	6503	SO:0001583	missense	0			-	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.795T>G	3.37:g.186504939T>G	ENSP00000326381:p.Cys265Trp		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.C266W	ENST00000323963.5	37	c.798	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512103	0.64522	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04654	3.58;3.58;3.58	5.12	5.12	0.69794	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.982;0.983;0.961	T	0.00120	-1.2030	10	0.87932	D	0	-22.7477	13.1874	0.59688	0.0:0.0:0.0:1.0	.	121;170;266;265	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	W	265;266;170	ENSP00000326381:C265W;ENSP00000398370:C266W;ENSP00000348925:C170W	ENSP00000326381:C265W	C	+	3	2	EIF4A2	187987633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.720000	0.54933	2.272000	0.75746	0.460000	0.39030	TGT	-	EIF4A2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.408	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	0	0	0	95	95	30	0.00	0.00	T	NM_001967		186504939	+1	12	4	65	34	tier1	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	15.58	10.53	SNP	1.000	G	12	65
PAQR5	54852	genome.wustl.edu	37	15	69652383	69652383	+	5'UTR	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr15:69652383C>T	ENST00000340965.3	+	0	632				PAQR5_ENST00000561153.1_5'UTR|PAQR5_ENST00000395407.2_5'UTR|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V						multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AACAGGGAGGCGCTGTCACCT	0.562													ENSG00000137819																																					0													88.0	78.0	82.0					15																	69652383		2200	4298	6498	SO:0001623	5_prime_UTR_variant	0			-		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.-37C>T	15.37:g.69652383C>T			Q8IXU2	R	SNP	-	NULL	ENST00000340965.3	37	NULL	CCDS10232.1	15																																																																																			-	PAQR5	-	-		0.562	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	0	0	0	46	46	46	0.00	0.00	C	NM_017705		69652383	+1	7	12	27	48	tier1	no_errors	ENST00000561027	ensembl	human	known	74_37	rna	20.59	20.00	SNP	0.000	T	7	27
ST6GALNAC5	81849	genome.wustl.edu	37	1	77528785	77528785	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:77528785G>A	ENST00000477717.1	+	5	1140	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	302					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACAGAGAAACGAGTCTTTAAG	0.413													ENSG00000117069																																					0													141.0	131.0	134.0					1																	77528785		2203	4300	6503	SO:0001583	missense	0			-		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.905G>A	1.37:g.77528785G>A	ENSP00000417583:p.Arg302Gln		B1AK82	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R302Q	ENST00000477717.1	37	c.905	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399730	0.83120	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	5.93	5.93	0.95920	.	0.174129	0.50627	D	0.000114	T	0.18923	0.0454	L	0.49350	1.555	0.48762	D	0.999704	P	0.39696	0.683	B	0.36885	0.235	T	0.03394	-1.1041	10	0.17369	T	0.5	-38.9358	20.3422	0.98769	0.0:0.0:1.0:0.0	.	302	Q9BVH7	SIA7E_HUMAN	Q	302;212	ENSP00000417583:R302Q	ENSP00000406658:R212Q	R	+	2	0	ST6GALNAC5	77301373	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.463000	0.60128	2.810000	0.96702	0.655000	0.94253	CGA	-	ST6GALC5	-	pirsf_Sialyl_trans		0.413	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALC5	HGNC	protein_coding	OTTHUMT00000026692.2	0	0	0	89	89	95	0.00	0.00	G	NM_030965		77528785	+1	18	25	57	74	tier1	no_errors	ENST00000477717	ensembl	human	known	74_37	missense	24.00	25.25	SNP	0.983	A	18	57
TRO	7216	genome.wustl.edu	37	X	54956774	54956774	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:54956774A>G	ENST00000173898.7	+	12	3729	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.N809S|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.N737S|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1206	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTAAGCACCAATGCTGGATTT	0.542													ENSG00000067445																																					0													60.0	58.0	59.0					X																	54956774		2050	4176	6226	SO:0001583	missense	0			-	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3617A>G	X.37:g.54956774A>G	ENSP00000173898:p.Asn1206Ser		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.N1206S	ENST00000173898.7	37	c.3617	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.661597	0.00772	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.07114	3.22;3.22;3.22	2.85	1.98	0.26296	.	.	.	.	.	T	0.02455	0.0075	N	0.01705	-0.755	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.25884	0.044;0.064	T	0.46541	-0.9184	9	0.02654	T	1	.	4.6909	0.12780	0.3235:0.0:0.6765:0.0	.	809;1206	B1AKE9;Q12816	.;TROP_HUMAN	S	1206;737;809	ENSP00000173898:N1206S;ENSP00000405126:N737S;ENSP00000364181:N809S	ENSP00000173898:N1206S	N	+	2	0	TRO	54973499	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-0.236000	0.09003	0.153000	0.19213	-0.228000	0.12330	AAT	-	TRO	-	NULL		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	0	0	0	24	24	105	0.00	0.00	A	NM_016157		54956774	+1	11	21	24	97	tier1	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	31.43	17.80	SNP	0.015	G	11	24
APOA5	116519	genome.wustl.edu	37	11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr11:116661095G>A	ENST00000227665.4	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	APOA5_ENST00000542499.1_Nonsense_Mutation_p.R284*|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662													ENSG00000110243																																					0													66.0	72.0	70.0					11																	116661095		2201	4296	6497	SO:0001587	stop_gained	0			-	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.850C>T	11.37:g.116661095G>A	ENSP00000227665:p.Arg284*		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Nonsense_Mutation	SNP	pfam_ApoA1_A4_E	p.R284*	ENST00000227665.4	37	c.850	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036702	0.54896	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	.	.	.	4.75	-2.01	0.07410	.	0.000000	0.40908	D	0.000997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8156	15.491	0.75605	0.0:0.0:0.2763:0.7237	.	.	.	.	X	284	.	ENSP00000227665:R284X	R	-	1	2	APOA5	116166305	0.331000	0.24713	0.995000	0.50966	0.418000	0.31294	0.455000	0.21843	-0.187000	0.10516	-1.194000	0.01681	CGA	-	APOA5	-	pfam_ApoA1_A4_E		0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	0	0	0	40	40	22	0.00	0.00	G			116661095	-1	12	8	36	34	tier1	no_errors	ENST00000227665	ensembl	human	known	74_37	nonsense	25.00	19.05	SNP	0.960	A	12	36
VIT	5212	genome.wustl.edu	37	2	36986282	36986282	+	Intron	SNP	G	G	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:36986282G>T	ENST00000389975.3	+	6	789				VIT_ENST00000457137.2_Missense_Mutation_p.G194C|VIT_ENST00000401530.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CATCTTAACCGGTCAAGCTCC	0.463													ENSG00000205221																																					0																																										SO:0001627	intron_variant	0			-	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+93G>T	2.37:g.36986282G>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.G194C	ENST00000389975.3	37	c.580	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	2.597	-0.293759	0.05568	.	.	ENSG00000205221	ENST00000457137	D	0.92199	-2.99	4.45	-4.09	0.03951	.	.	.	.	.	D	0.89887	0.6845	.	.	.	0.09310	N	1	P	0.48407	0.91	P	0.48454	0.578	T	0.83355	-0.0001	7	.	.	.	.	11.6163	0.51092	0.7431:0.0:0.2569:0.0	.	194	Q6UXI7-3	.	C	194	ENSP00000393561:G194C	.	G	+	1	0	VIT	36839786	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-2.145000	0.01295	-0.730000	0.04869	-0.226000	0.12346	GGT	-	VIT	-	NULL		0.463	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		0	0	0	43	43	107	0.00	0.00	G			36986282	+1	8	20	23	71	tier1	no_errors	ENST00000457137	ensembl	human	known	74_37	missense	25.81	21.98	SNP	0.000	T	8	23
GLIPR1L1	256710	genome.wustl.edu	37	12	75737700	75737700	+	Silent	SNP	C	C	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:75737700C>G	ENST00000378695.4	+	2	492	c.402C>G	c.(400-402)gtC>gtG	p.V134V	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.V134V			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GCTCCAGAGTCTGTGGCCATT	0.333													ENSG00000173401																																					0													83.0	82.0	82.0					12																	75737700		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.402C>G	12.37:g.75737700C>G			Q96L06	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.V134	ENST00000378695.4	37	c.402		12																																																																																			-	GLIPR1L1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_V5_allergen		0.333	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	HGNC	protein_coding	OTTHUMT00000405714.1	0	0	0	91	91	39	0.00	0.00	C	NM_152779		75737700	+1	166	147	92	71	tier1	no_errors	ENST00000378695	ensembl	human	known	74_37	silent	64.34	66.82	SNP	0.031	G	166	92
HYDIN	54768	genome.wustl.edu	37	16	71196449	71196449	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr16:71196449T>A	ENST00000393567.2	-	6	851	c.701A>T	c.(700-702)cAc>cTc	p.H234L	HYDIN_ENST00000538248.1_Missense_Mutation_p.H261L|HYDIN_ENST00000448089.2_Missense_Mutation_p.H234L|HYDIN_ENST00000541601.1_Missense_Mutation_p.H251L|HYDIN_ENST00000448691.1_Missense_Mutation_p.H234L|HYDIN_ENST00000393550.2_Missense_Mutation_p.H234L|HYDIN_ENST00000288168.10_Missense_Mutation_p.H251L|HYDIN_ENST00000321489.5_Missense_Mutation_p.H234L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	234					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTTTTGATGTGAAATACAGC	0.388													ENSG00000157423																																					0													62.0	59.0	60.0					16																	71196449		2196	4296	6492	SO:0001583	missense	0			-	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.701A>T	16.37:g.71196449T>A	ENSP00000377197:p.His234Leu		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.H234L	ENST00000393567.2	37	c.701	CCDS59269.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.96|11.96	1.796117|1.796117	0.31777|0.31777	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000538382	T;T;T;T;T;T;T;T|.	0.14266|.	5.6;3.76;3.76;3.76;3.75;3.76;3.39;2.52|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.32819|.	U|.	0.005610|.	T|T	0.69142|0.69142	0.3078|0.3078	L|L	0.57536|0.57536	1.79|1.79	0.40268|0.40268	D|D	0.978254|0.978254	B;B;B;B;P|.	0.40180|.	0.0;0.0;0.001;0.0;0.705|.	B;B;B;B;B|.	0.38327|.	0.003;0.003;0.004;0.003;0.271|.	T|T	0.69480|0.69480	-0.5134|-0.5134	10|5	0.07175|.	T|.	0.84|.	.|.	14.5089|14.5089	0.67772|0.67772	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;251;251;234;234|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	L|S	234;234;234;234;234;261;251;251;234|73	ENSP00000377197:H234L;ENSP00000398544:H234L;ENSP00000394826:H234L;ENSP00000314736:H234L;ENSP00000444970:H261L;ENSP00000437341:H251L;ENSP00000288168:H251L;ENSP00000377181:H234L|.	ENSP00000288168:H251L|.	H|T	-|-	2|1	0|0	HYDIN|HYDIN	69753950|69753950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	1.507000|1.507000	0.35758|0.35758	1.980000|1.980000	0.57719|0.57719	0.482000|0.482000	0.46254|0.46254	CAC|ACA	-	HYDIN	-	superfamily_PapD-like		0.388	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0	0	73	73	49	0.00	0.00	T			71196449	-1	10	12	48	35	tier1	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	17.24	25.53	SNP	1.000	A	10	48
KCNH2	3757	genome.wustl.edu	37	7	150647132	150647132	+	Intron	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr7:150647132G>A	ENST00000262186.5	-	9	2800				KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.P841L|KCNH2_ENST00000392968.2_Intron	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTGAATTAAAGGAGCCCAGTG	0.602													ENSG00000055118																									GBM(137;110 1844 13671 20123 45161)												0													28.0	39.0	35.0					7																	150647132		1291	2273	3564	SO:0001627	intron_variant	0			-	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+123C>T	7.37:g.150647132G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.P841L	ENST00000262186.5	37	c.2522	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931912	0.34096	.	.	ENSG00000055118	ENST00000430723	D	0.99259	-5.64	2.85	0.967	0.19674	.	.	.	.	.	D	0.95424	0.8514	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	D	0.92297	0.5846	9	0.62326	D	0.03	.	4.6046	0.12371	0.3281:0.0:0.6719:0.0	.	841;501	G5E9I0;Q708S9	.;.	L	841	ENSP00000387657:P841L	ENSP00000387657:P841L	P	-	2	0	KCNH2	150278065	0.757000	0.28394	0.007000	0.13788	0.375000	0.29983	0.355000	0.20163	0.244000	0.21351	0.462000	0.41574	CCT	-	KCNH2	-	smart_cNMP-bd_dom		0.602	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	0	0	0	75	75	21	0.00	0.00	G	NM_000238		150647132	-1	12	9	51	25	tier1	no_errors	ENST00000430723	ensembl	human	known	74_37	missense	19.05	26.47	SNP	0.080	A	12	51
PSMD1	5707	genome.wustl.edu	37	2	231937071	231937071	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:231937071A>G	ENST00000308696.6	+	7	985	c.823A>G	c.(823-825)Att>Gtt	p.I275V	PSMD1_ENST00000409643.1_Missense_Mutation_p.I275V|PSMD1_ENST00000373635.4_Missense_Mutation_p.I275V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGGCACCCCTATTGCTTCTGT	0.408													ENSG00000173692																																					0													162.0	165.0	164.0					2																	231937071		2203	4300	6503	SO:0001583	missense	0			-	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.823A>G	2.37:g.231937071A>G	ENSP00000309474:p.Ile275Val		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.I275V	ENST00000308696.6	37	c.823	CCDS2482.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.41|14.41	2.526903|2.526903	0.44969|0.44969	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643|ENST00000444007	.|.	.|.	.|.	5.98|5.98	3.55|3.55	0.40652|0.40652	Armadillo-type fold (1);|.	0.043220|.	0.85682|.	D|.	0.000000|.	T|T	0.67297|0.67297	0.2878|0.2878	L|L	0.58925|0.58925	1.835|1.835	0.58432|0.58432	D|D	0.999994|0.999994	B;B|.	0.30973|.	0.027;0.302|.	B;B|.	0.22386|.	0.021;0.039|.	T|T	0.63134|0.63134	-0.6705|-0.6705	9|5	0.23302|.	T|.	0.38|.	-7.3897|-7.3897	13.0469|13.0469	0.58931|0.58931	0.7462:0.2538:0.0:0.0|0.7462:0.2538:0.0:0.0	.|.	275;275|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	V|C	275|126	.|.	ENSP00000309474:I275V|.	I|Y	+|+	1|2	0|0	PSMD1|PSMD1	231645315|231645315	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	5.142000|5.142000	0.64820|0.64820	0.479000|0.479000	0.27511|0.27511	0.528000|0.528000	0.53228|0.53228	ATT|TAT	-	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2		0.408	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	0	0	0	104	104	56	0.00	0.00	A			231937071	+1	12	25	70	61	tier1	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	14.63	29.07	SNP	0.996	G	12	70
NUP107	57122	genome.wustl.edu	37	12	69113363	69113363	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:69113363G>C	ENST00000229179.4	+	14	1512	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	NUP107_ENST00000378905.2_Missense_Mutation_p.E243Q|NUP107_ENST00000539906.1_Missense_Mutation_p.E365Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	394					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATAGGAACAGAATTAGAACC	0.299													ENSG00000111581																																					0													40.0	45.0	43.0					12																	69113363		2191	4295	6486	SO:0001583	missense	0			-	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1180G>C	12.37:g.69113363G>C	ENSP00000229179:p.Glu394Gln		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.E394Q	ENST00000229179.4	37	c.1180	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070557	0.76301	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.4	4.51	0.55191	.	0.043741	0.85682	D	0.000000	T	0.77452	0.4132	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74674	0.984;0.978;0.976	T	0.79017	-0.1975	8	.	.	.	-12.8188	14.4398	0.67309	0.0714:0.0:0.9286:0.0	.	365;243;394	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	Q	394;243;365	.	.	E	+	1	0	NUP107	67399630	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.292000	0.78731	1.425000	0.47237	0.484000	0.47621	GAA	-	NUP107	-	pfam_Nup84_Nup100		0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	0	0	0	58	58	59	0.00	0.00	G	NM_020401		69113363	+1	54	53	77	67	tier1	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	41.22	44.17	SNP	1.000	C	54	77
MVP	9961	genome.wustl.edu	37	16	29852944	29852944	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr16:29852944A>G	ENST00000357402.5	+	9	1357	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.M407V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	407					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AAGCACCTACATGCTGACCCA	0.622													ENSG00000013364																																					0													26.0	24.0	25.0					16																	29852944		2197	4299	6496	SO:0001583	missense	0			-	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1219A>G	16.37:g.29852944A>G	ENSP00000349977:p.Met407Val		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.M407V	ENST00000357402.5	37	c.1219	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167990	0.57476	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.11604	2.76;2.76	5.61	5.61	0.85477	.	0.036730	0.85682	D	0.000000	T	0.36413	0.0966	M	0.91972	3.26	0.80722	D	1	D	0.58268	0.982	P	0.58266	0.836	T	0.42015	-0.9476	10	0.54805	T	0.06	-41.5369	13.7625	0.62975	1.0:0.0:0.0:0.0	.	407	Q14764	MVP_HUMAN	V	407	ENSP00000349977:M407V;ENSP00000378760:M407V	ENSP00000349977:M407V	M	+	1	0	MVP	29760445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.324000	0.79115	2.123000	0.65237	0.460000	0.39030	ATG	-	MVP	-	NULL		0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	0	0	0	39	39	39	0.00	0.00	A	NM_005115		29852944	+1	5	8	32	28	tier1	no_errors	ENST00000357402	ensembl	human	known	74_37	missense	13.51	22.22	SNP	1.000	G	5	32
LRRK2	120892	genome.wustl.edu	37	12	40704301	40704301	+	Silent	SNP	C	C	T	rs35363614		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:40704301C>T	ENST00000298910.7	+	31	4444	c.4386C>T	c.(4384-4386)cgC>cgT	p.R1462R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGCAACGCAAAGCCTGCA	0.483													ENSG00000188906																																					0													154.0	147.0	149.0					12																	40704301		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4386C>T	12.37:g.40704301C>T			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1462	ENST00000298910.7	37	c.4386	CCDS31774.1	12																																																																																			-	LRRK2	-	superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom		0.483	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	0	0	0	30	30	60	0.00	0.00	C	XM_058513		40704301	+1	9	10	72	142	tier1	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	11.11	6.58	SNP	0.996	T	9	72
CPM	1368	genome.wustl.edu	37	12	69264130	69264130	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:69264130C>T	ENST00000551568.1	-	5	541	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CPM_ENST00000338356.3_Missense_Mutation_p.E161K|CPM_ENST00000546373.1_Missense_Mutation_p.E161K	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	161					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATTATATTCAAAAGCATCG	0.418													ENSG00000135678																																					0													81.0	83.0	82.0					12																	69264130		2203	4300	6503	SO:0001583	missense	0			-	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.481G>A	12.37:g.69264130C>T	ENSP00000448517:p.Glu161Lys		B2R800|Q9H2K9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E161K	ENST00000551568.1	37	c.481	CCDS8987.1	12	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067446	0.20067	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.37	5.37	0.77165	Peptidase M14, carboxypeptidase A (2);	0.684609	0.14495	N	0.316092	T	0.09379	0.0231	L	0.31371	0.925	0.58432	D	0.999998	B	0.19200	0.034	B	0.19148	0.024	T	0.23691	-1.0181	9	.	.	.	-8.2792	12.8027	0.57594	0.0:0.9248:0.0:0.0751	.	161	P14384	CBPM_HUMAN	K	161	ENSP00000448517:E161K;ENSP00000339157:E161K;ENSP00000447255:E161K;ENSP00000446799:E161K	.	E	-	1	0	CPM	67550397	1.000000	0.71417	0.982000	0.44146	0.283000	0.27025	1.781000	0.38644	2.689000	0.91719	0.655000	0.94253	GAA	-	CPM	-	pfam_Peptidase_M14,pfam_Aste_AspA,smart_Peptidase_M14		0.418	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	HGNC	protein_coding	OTTHUMT00000403355.1	0	0	0	44	44	47	0.00	0.00	C	NM_198320		69264130	-1	120	144	360	453	tier1	no_errors	ENST00000338356	ensembl	human	known	74_37	missense	25.00	24.12	SNP	1.000	T	120	360
ANGEL1	23357	genome.wustl.edu	37	14	77275610	77275610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:77275610C>T	ENST00000251089.2	-	2	553	c.441G>A	c.(439-441)tgG>tgA	p.W147*	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	147										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GGATAGCTGCCCACATGGAGC	0.632													ENSG00000013523																																					0													33.0	35.0	34.0					14																	77275610		2203	4300	6503	SO:0001587	stop_gained	0			-	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.441G>A	14.37:g.77275610C>T	ENSP00000251089:p.Trp147*		B4DWL7|O94859|Q8NCS9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.W147*	ENST00000251089.2	37	c.441	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767922	0.69878	.	.	ENSG00000013523	ENST00000251089	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.8548	17.7836	0.88531	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000251089:W147X	W	-	3	0	ANGEL1	76345363	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	3.264000	0.51553	2.644000	0.89710	0.655000	0.94253	TGG	-	ANGEL1	-	NULL		0.632	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2	0	0	0	23	23	32	0.00	0.00	C	NM_015305		77275610	-1	4	4	13	40	tier1	no_errors	ENST00000251089	ensembl	human	known	74_37	nonsense	23.53	9.09	SNP	0.998	T	4	13
BMP10	27302	genome.wustl.edu	37	2	69093564	69093564	+	Silent	SNP	G	G	A	rs375928014		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:69093564G>A	ENST00000295379.1	-	2	632	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	158					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTACTCCATCGTATATCATAC	0.453													ENSG00000163217																																					0								G		0,4406		0,0,2203	79.0	67.0	71.0		474	-0.9	1.0	2		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP10	NM_014482.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		158/425	69093564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.474C>T	2.37:g.69093564G>A			Q53R17|Q6NTE0	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.Y158	ENST00000295379.1	37	c.474	CCDS1890.1	2																																																																																			-	BMP10	-	pfam_TGF-b_N		0.453	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	0	0	1	52	52	65	0.00	1.52	G	NM_014482		69093564	-1	3	7	29	95	tier1	no_errors	ENST00000295379	ensembl	human	known	74_37	silent	9.38	6.86	SNP	0.820	A	3	29
GPKOW	27238	genome.wustl.edu	37	X	48973411	48973429	+	Frame_Shift_Del	DEL	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG	-	rs368470725		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG	-	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:48973411_48973429delCCTGCTGGGAGACAGGCCG	ENST00000156109.5	-	6	946_964	c.868_886delCGGCCTGTCTCCCAGCAGG	c.(868-888)cggcctgtctcccagcaggagfs	p.RPVSQQE290fs		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	290						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTGTCAAACTCCTGCTGGGAGACAGGCCGCAGGTAGTAC	0.566													ENSG00000068394																																					0																																										SO:0001589	frameshift_variant	0				U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.868_886delCGGCCTGTCTCCCAGCAGG	X.37:g.48973411_48973429delCCTGCTGGGAGACAGGCCG	ENSP00000156109:p.Arg290fs		Q59EK5|Q9BQA8	Frame_Shift_Del	DEL	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.R290fs	ENST00000156109.5	37	c.886_868	CCDS35251.1	X																																																																																				GPKOW	-	NULL		0.566	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	0	0	0	61	61	61	0.00	0.00	CCTGCTGGGAGACAGGCCG	NM_015698		48973429	-1	5	5	88	88	tier1	no_errors	ENST00000156109	ensembl	human	known	74_37	frame_shift_del	5.38	5.38	DEL	1.000:0.998:0.990:0.536:0.595:0.805:0.856:0.830:0.816:0.730:0.514:0.607:0.575:0.077:0.077:0.054:0.028:0.016:0.001	-	5	88
CCAR1	55749	genome.wustl.edu	37	10	70531091	70531091	+	Silent	SNP	T	T	C			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr10:70531091T>C	ENST00000265872.6	+	18	2546	c.2427T>C	c.(2425-2427)gaT>gaC	p.D809D	CCAR1_ENST00000535016.1_Silent_p.D794D|CCAR1_ENST00000543719.1_Silent_p.D794D	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	809	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gcaaaaaagatgagagaaaag	0.318													ENSG00000060339																																					0													52.0	53.0	53.0					10																	70531091		2202	4298	6500	SO:0001819	synonymous_variant	0			-	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2427T>C	10.37:g.70531091T>C			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	pfam_SAP_dom,superfamily_-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.D809	ENST00000265872.6	37	c.2427	CCDS7282.1	10																																																																																			-	CCAR1	-	NULL		0.318	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	0	0	1	77	77	26	0.00	3.70	T	NM_018237		70531091	+1	15	12	64	23	tier1	no_errors	ENST00000265872	ensembl	human	known	74_37	silent	18.75	34.29	SNP	0.932	C	15	64
C16orf96	342346	genome.wustl.edu	37	16	4643291	4643291	+	Silent	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr16:4643291C>T	ENST00000444310.4	+	12	2841	c.2841C>T	c.(2839-2841)tgC>tgT	p.C947C		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						CCAACAGCTGCGAGTACTTGC	0.667													ENSG00000205832																																					0													23.0	30.0	28.0					16																	4643291		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2841C>T	16.37:g.4643291C>T				Silent	SNP	NULL	p.C947	ENST00000444310.4	37	c.2841	CCDS53986.1	16																																																																																			-	C16orf96	-	NULL		0.667	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	0	0	0	72	72	9	0.00	0.00	C	NM_001145011		4643291	+1	15	1	58	7	tier1	no_errors	ENST00000444310	ensembl	human	known	74_37	silent	20.55	12.50	SNP	0.844	T	15	58
C22orf34	348645	genome.wustl.edu	37	22	50017914	50017914	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr22:50017914G>T	ENST00000444628.1	-	4	1618	c.547C>A	c.(547-549)Ctc>Atc	p.L183I	C22orf34_ENST00000405854.1_Intron|C22orf34_ENST00000400023.1_Intron			Q6ZV56	CV034_HUMAN	chromosome 22 open reading frame 34	0										pancreas(1)	1						TTGGGAGGGAGGGCACAGTGA	0.642													ENSG00000188511																																					0																																										SO:0001583	missense	0			-	BC048207		22q13.33	2013-01-15			ENSG00000188511	ENSG00000188511			28010	other	unknown						12477932	Standard	NR_026997		Approved		uc003bit.3	Q6ZV56	OTTHUMG00000030424	ENST00000444628.1:c.547C>A	22.37:g.50017914G>T	ENSP00000395549:p.Leu183Ile		Q147Y0|Q5R3D1|Q6ZTN8	Missense_Mutation	SNP	NULL	p.L183I	ENST00000444628.1	37	c.547		22	.	.	.	.	.	.	.	.	.	.	G	3.230	-0.157656	0.06544	.	.	ENSG00000188511	ENST00000444628	.	.	.	0.463	0.463	0.16700	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	.	2.9664	0.05909	0.3817:0.0:0.6183:0.0	.	.	.	.	I	183	.	.	L	-	1	0	C22orf34	48403918	0.005000	0.15991	0.038000	0.18304	0.171000	0.22731	-1.139000	0.03213	0.518000	0.28383	0.121000	0.15741	CTC	-	C22orf34	-	NULL		0.642	C22orf34-201	KNOWN	basic|appris_candidate_longest	protein_coding	C22orf34	HGNC	protein_coding		0	0	0	32	32	3	0.00	0.00	G	NR_026997		50017914	-1	4	0	31	2	tier1	no_errors	ENST00000444628	ensembl	human	known	74_37	missense	11.43	0.00	SNP	0.078	T	4	31
BEND7	222389	genome.wustl.edu	37	10	13570579	13570584	+	5'Flank	DEL	GCGGCA	GCGGCA	-	rs184014070		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	GCGGCA	GCGGCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr10:13570579_13570584delGCGGCA	ENST00000396900.2	-	0	0				BEND7_ENST00000396898.2_5'Flank|RP11-214D15.2_ENST00000438431.1_RNA			Q8N7W2	BEND7_HUMAN	BEN domain containing 7							extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ggcggcagcggcggcagcggcagcgg	0.738													ENSG00000227175																																					0																																										SO:0001631	upstream_gene_variant	0				BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699		10.37:g.13570585_13570590delGCGGCA	Exception_encountered		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	R	DEL	-	NULL	ENST00000396900.2	37	NULL		10																																																																																				RP11-214D15.2	-	-		0.738	BEND7-202	KNOWN	basic	protein_coding	ENSG00000227175	Clone_based_vega_gene	protein_coding		0	0	0	0	0	0	0.00	0.00	GCGGCA	NM_152751		13570584	+1	0	0	0	0	tier1	no_errors	ENST00000438431	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.013:0.012:0.010:0.008:0.006:0.003	-	0	0
RP11-782C8.2	0	genome.wustl.edu	37	1	143210557	143210557	+	lincRNA	SNP	A	A	G			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:143210557A>G	ENST00000412204.2	-	0	513				RP11-782C8.1_ENST00000438000.1_lincRNA																							AAGTCAATGAATTTATAAAAG	0.313													ENSG00000232274																																					0																																												0			-																													1.37:g.143210557A>G				R	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			-	RP11-782C8.2	-	-		0.313	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	0	0	0	34	34	1	0.00	0.00	A			143210557	-1	4	0	24	1	tier1	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	14.29	0.00	SNP	0.012	G	4	24
RGL4	266747	genome.wustl.edu	37	22	24037625	24037626	+	Intron	INS	-	-	CTGTTG	rs144531389|rs71200896|rs530374575	byFrequency	TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr22:24037625_24037626insCTGTTG	ENST00000290691.5	+	6	2256				AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AAGCCAGGCCTctgctgctgct	0.629													ENSG00000273000																																					0																																										SO:0001627	intron_variant	0					CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1086+419->CTGTTG	22.37:g.24037625_24037626insCTGTTG			Q495L8	R	INS	-	NULL	ENST00000290691.5	37	NULL	CCDS13811.1	22																																																																																				KB-1572G7.2	-	-		0.629	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000273000	Clone_based_vega_gene	protein_coding	OTTHUMT00000319711.1	0	0	0	0	0	0	0.00	0.00	-	NM_153615		24037626	-1	0	0	2	2	tier1	no_errors	ENST00000421064	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.001:0.005	CTGTTG	0	2
LINC00200	399706	genome.wustl.edu	37	10	1205736	1205736	+	lincRNA	SNP	A	A	G	rs60415666		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr10:1205736A>G	ENST00000425630.1	+	0	29					NR_015376.2				long intergenic non-protein coding RNA 200																		ATGAGGGATGACGCAGGCACA	0.667													ENSG00000229205																																					0													15.0	18.0	17.0					10																	1205736		687	1591	2278			0			-	AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205736A>G				R	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			rs60415666	LINC00200	-	-		0.667	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	0	0	0	22	22	0	0.00	0.00	A	NR_015376		1205736	+1	5	0	22	0	tier1	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	18.52	0.00	SNP	0.155	G	5	22
TUBA4A	7277	genome.wustl.edu	37	2	220118077	220118077	+	Intron	DEL	G	G	-	rs60456844		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:220118077delG	ENST00000248437.4	-	1	177				TUBA4A_ENST00000498660.1_Intron|TUBA4A_ENST00000392088.2_Intron|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a						'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCTGAGTCACGGGGGGGGGGT	0.647													ENSG00000243910																																					0																																										SO:0001627	intron_variant	0				AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.3+500C>-	2.37:g.220118077delG			A8MUB1|B3KNQ6|P05215	R	DEL	-	NULL	ENST00000248437.4	37	NULL	CCDS2438.1	2																																																																																				TUBA4B	-	-		0.647	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4B	HGNC	protein_coding	OTTHUMT00000256816.3	0	0	0	14	14	4	0.00	0.00	G	NM_006000		220118077	+1	4	0	13	0	tier1	no_errors	ENST00000473885	ensembl	human	known	74_37	rna	23.53	0.00	DEL	0.000	-	4	13
CXADRP3	440224	genome.wustl.edu	37	18	14478199	14478199	+	lincRNA	SNP	G	G	A			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr18:14478199G>A	ENST00000581457.1	-	0	1709					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTCTGTGCGGGAATCATCACA	0.468													ENSG00000265766																																					0																																												0			-			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478199G>A				R	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			-	CXADRP3	-	-		0.468	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	0	0	0	62	62	2	0.00	0.00	G	NR_024076		14478199	-1	11	2	44	3	tier1	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	20.00	40.00	SNP	1.000	A	11	44
TGM1	7051	genome.wustl.edu	37	14	24723980	24723980	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:24723980C>T	ENST00000206765.6	-	13	2101	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	TGM1_ENST00000544573.1_Missense_Mutation_p.V218M	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	660					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCTGGTCCACAAGATGGGGC	0.627													ENSG00000092295																																					0													74.0	69.0	71.0					14																	24723980		2203	4300	6503	SO:0001583	missense	0			-	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1978G>A	14.37:g.24723980C>T	ENSP00000206765:p.Val660Met		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V660M	ENST00000206765.6	37	c.1978	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829143	0.90955	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.71461	-0.57;-0.57	5.31	5.31	0.75309	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	M	0.74647	2.275	0.53688	D	0.999976	D	0.89917	1.0	D	0.79784	0.993	D	0.85020	0.0911	10	0.72032	D	0.01	-16.2017	16.5174	0.84304	0.0:1.0:0.0:0.0	.	660	P22735	TGM1_HUMAN	M	660;218	ENSP00000206765:V660M;ENSP00000439446:V218M	ENSP00000206765:V660M	V	-	1	0	TGM1	23793820	0.994000	0.37717	0.976000	0.42696	0.954000	0.61252	3.160000	0.50739	2.754000	0.94517	0.655000	0.94253	GTG	-	TGM1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	0	0	0	44	44	33	0.00	0.00	C	NM_000359		24723980	-1	5	2	42	60	tier1	no_errors	ENST00000206765	ensembl	human	known	74_37	missense	10.64	3.23	SNP	1.000	T	5	42
GNAS	2778	genome.wustl.edu	37	20	57430245	57430245	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr20:57430245C>T	ENST00000371100.4	+	1	2477	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	GNAS_ENST00000306120.3_Missense_Mutation_p.R579W|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A642V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A642V|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACCCCTGGCGGAGAAGCGC	0.592			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			ENSG00000087460																									Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													24.0	28.0	27.0					20																	57430245		2027	4202	6229	SO:0001583	missense	0			-	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1925C>T	20.37:g.57430245C>T	ENSP00000360141:p.Ala642Val		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.A642V	ENST00000371100.4	37	c.1925	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.632|3.632	-0.075297|-0.075297	0.07184|0.07184	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102;ENST00000349036|ENST00000306120;ENST00000423897	D;D;D|.	0.89810|.	-2.41;-2.41;-2.57|.	3.84|3.84	-3.82|-3.82	0.04281|0.04281	.|.	11.375600|.	0.00166|.	N|.	0.000002|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.08118|0.08118	0|0	0.24069|0.24069	N|N	0.995984|0.995984	B|.	0.28178|.	0.202|.	B|.	0.17433|.	0.018|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|6	0.44086|0.87932	T|D	0.13|0	.|.	4.5295|4.5295	0.11997|0.11997	0.5251:0.2857:0.0:0.1892|0.5251:0.2857:0.0:0.1892	.|.	642|.	Q5JWF2|.	GNAS1_HUMAN|.	V|W	642;642;642;15|579;5	ENSP00000360141:A642V;ENSP00000360143:A642V;ENSP00000265621:A15V|.	ENSP00000265621:A15V|ENSP00000302237:R579W	A|R	+|+	2|1	0|2	GNAS|GNAS	56863640|56863640	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.101000|0.101000	0.19017|0.19017	-0.367000|-0.367000	0.07553|0.07553	-0.810000|-0.810000	0.04375|0.04375	-0.362000|-0.362000	0.07510|0.07510	GCG|CGG	-	GS	-	NULL		0.592	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GS	HGNC	protein_coding	OTTHUMT00000080417.3	0	0	0	45	45	47	0.00	0.00	C	NM_000516		57430245	+1	5	2	53	57	tier1	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	8.62	3.39	SNP	0.333	T	5	53
