#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACOX3	8310	genome.wustl.edu	37	4	8401327	8401327	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr4:8401327T>A	ENST00000356406.5	-	8	906	c.829A>T	c.(829-831)Atg>Ttg	p.M277L	ACOX3_ENST00000503233.1_Missense_Mutation_p.M277L|ACOX3_ENST00000413009.2_Missense_Mutation_p.M277L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	277					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.M277L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ACGTCTCCCATCCGGTTCAGA	0.607																																						dbGAP											1	Substitution - Missense(1)	lung(1)											91.0	87.0	88.0					4																	8401327		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.829A>T	4.37:g.8401327T>A	ENSP00000348775:p.Met277Leu		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.M277L	ENST00000356406.5	37	c.829	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	T	7.112	0.576286	0.13686	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.61392	0.11;0.11;0.11	4.46	-2.83	0.05769	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.405239	0.26784	N	0.022507	T	0.21761	0.0524	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.07908	-1.0748	10	0.23302	T	0.38	-0.0702	1.4158	0.02301	0.1353:0.2356:0.1303:0.4988	.	277;277;277	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	L	277	ENSP00000413994:M277L;ENSP00000348775:M277L;ENSP00000421625:M277L	ENSP00000348775:M277L	M	-	1	0	ACOX3	8452227	0.904000	0.30761	0.000000	0.03702	0.009000	0.06853	1.342000	0.33919	-0.680000	0.05211	-0.363000	0.07495	ATG	ACOX3	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	ENSG00000087008		0.607	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	21	0.00	0	T			8401327	8401327	-1	no_errors	ENST00000356406	ensembl	human	known	69_37n	missense	50	38.27	31	SNP	0.005	A
C9orf84	158401	genome.wustl.edu	37	9	114518627	114518627	+	Silent	SNP	T	T	C			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr9:114518627T>C	ENST00000318737.4	-	6	776	c.648A>G	c.(646-648)gaA>gaG	p.E216E	C9orf84_ENST00000394779.3_Silent_p.E177E|C9orf84_ENST00000394777.4_Silent_p.E177E|C9orf84_ENST00000374287.3_Silent_p.E216E|C9orf84_ENST00000374283.5_Silent_p.E280E	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	216										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTTTTCCTTTTCATCTACAT	0.303																																						dbGAP											0													66.0	66.0	66.0					9																	114518627		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.648A>G	9.37:g.114518627T>C			A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.E216	ENST00000318737.4	37	c.648	CCDS6781.3	9																																																																																			C9orf84	-	NULL	ENSG00000165181		0.303	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	300	0.00	0	T	NM_173521		114518627	114518627	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	silent	54	11.48	7	SNP	0.994	C
CASP8	841	genome.wustl.edu	37	2	202141634	202141634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr2:202141634G>T	ENST00000432109.2	+	8	934	c.745G>T	c.(745-747)Gag>Tag	p.E249*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.E234*|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000358485.4_Nonsense_Mutation_p.E308*|CASP8_ENST00000392259.2_Missense_Mutation_p.G227V|CASP8_ENST00000392266.3_Missense_Mutation_p.G212V|CASP8_ENST00000392258.3_Missense_Mutation_p.G227V|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E266*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	249					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAAAGCACGGGAGAAAGTGCC	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													87.0	78.0	81.0					2																	202141634		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.745G>T	2.37:g.202141634G>T	ENSP00000412523:p.Glu249*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E308*	ENST00000432109.2	37	c.922	CCDS2342.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.44|13.44	2.236396|2.236396	0.39498|0.39498	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000424461	.|.	.|.	.|.	5.6|5.6	0.707|0.707	0.18139|0.18139	.|.	0.905641|.	0.09542|.	N|.	0.788165|.	.|T	.|0.24928	.|0.0605	.|.	.|.	.|.	0.19300|0.19300	N|N	0.99998|0.99998	.|B;B	.|0.33583	.|0.418;0.418	.|B;B	.|0.33960	.|0.173;0.122	.|T	.|0.19095	.|-1.0316	.|7	0.27082|0.52906	T|T	0.32|0.07	.|.	4.3288|4.3288	0.11053|0.11053	0.4261:0.19:0.3839:0.0|0.4261:0.19:0.3839:0.0	.|.	.|212;227	.|Q14790-6;Q14790-5	.|.;.	X|V	234;249;266;131;308;234;234|227;212;227;75	.|.	ENSP00000264275:E266X|ENSP00000376087:G227V	E|G	+|+	1|2	0|0	CASP8|CASP8	201849879|201849879	0.000000|0.000000	0.05858|0.05858	0.173000|0.173000	0.22940|0.22940	0.002000|0.002000	0.02628|0.02628	-0.897000|-0.897000	0.04110|0.04110	0.093000|0.093000	0.17368|0.17368	-0.367000|-0.367000	0.07326|0.07326	GAG|GGA	CASP8	-	pfam_Pept_C14_cat,superfamily_DEATH-like,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	149	0.00	0	G	NM_001228		202141634	202141634	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	nonsense	61	27.91	24	SNP	0.123	T
CES1	1066	genome.wustl.edu	37	16	55857523	55857523	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr16:55857523C>A	ENST00000361503.4	-	4	605	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S	CES1_ENST00000422046.2_Missense_Mutation_p.A159S|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.A160S			P23141	EST1_HUMAN	carboxylesterase 1	159					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTTTCATGGGCAGCAAGGGCC	0.567																																					NSCLC(162;1801 2756 42904 52896)	dbGAP											0													111.0	107.0	108.0					16																	55857523		2196	4299	6495	-	-	-	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.475G>T	16.37:g.55857523C>A	ENSP00000355193:p.Ala159Ser		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.A160S	ENST00000361503.4	37	c.478	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	14.34	2.505021	0.44558	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.12879	2.91;2.91;2.64	4.05	3.06	0.35304	Carboxylesterase, type B (1);	0.101628	0.43747	N	0.000539	T	0.21427	0.0516	M	0.63428	1.95	0.53688	D	0.999975	P;P;P	0.39157	0.662;0.662;0.61	P;P;B	0.46510	0.519;0.519;0.385	T	0.01215	-1.1416	10	0.72032	D	0.01	.	9.9497	0.41631	0.0:0.893:0.0:0.1069	.	159;159;160	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	160;159;159;24	ENSP00000353720:A160S;ENSP00000355193:A159S;ENSP00000390492:A159S	ENSP00000353720:A160S	A	-	1	0	CES1	54415024	1.000000	0.71417	0.996000	0.52242	0.317000	0.28152	2.213000	0.42844	0.667000	0.31107	0.400000	0.26472	GCC	CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.567	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	128	0.00	0	C	NM_001266		55857523	55857523	-1	no_errors	ENST00000360526	ensembl	human	known	69_37n	missense	110	13.95	18	SNP	1.000	A
COL6A5	256076	genome.wustl.edu	37	3	130159662	130159662	+	Silent	SNP	G	G	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr3:130159662G>A	ENST00000432398.2	+	35	6974	c.6480G>A	c.(6478-6480)tcG>tcA	p.S2160S	COL6A5_ENST00000265379.6_Silent_p.S2160S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2160	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTATACTCGGTCAGGCGTA	0.323																																						dbGAP											0													46.0	42.0	43.0					3																	130159662		1813	4076	5889	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6480G>A	3.37:g.130159662G>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G412S	ENST00000432398.2	37	c.1234		3	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202731	0.01581	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.87	-6.1	0.02138	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	3.0992	0.06320	0.2999:0.2097:0.3804:0.1099	.	.	.	.	S	412	.	.	G	+	1	0	COL6A5	131642352	0.000000	0.05858	0.067000	0.19924	0.144000	0.21451	-1.236000	0.02925	-1.113000	0.02981	-0.937000	0.02696	GGT	COL6A5	-	NULL	ENSG00000172752		0.323	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		162	0.00	0	G	NM_153264		130159662	130159662	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512836	ensembl	human	putative	69_37n	missense	36	63.64	63	SNP	0.017	A
DOCK8	81704	genome.wustl.edu	37	9	377199	377199	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr9:377199G>T	ENST00000453981.1	+	20	2540	c.2428G>T	c.(2428-2430)Gct>Tct	p.A810S	DOCK8_ENST00000469391.1_Missense_Mutation_p.A742S|DOCK8_ENST00000382329.1_Missense_Mutation_p.A277S|DOCK8_ENST00000432829.2_Missense_Mutation_p.A742S|DOCK8_ENST00000382331.1_Missense_Mutation_p.A112S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	810					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATGGTCATCGCTGGCCAGAC	0.567																																						dbGAP											0													22.0	17.0	18.0					9																	377199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2428G>T	9.37:g.377199G>T	ENSP00000408464:p.Ala810Ser		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.A810S	ENST00000453981.1	37	c.2428	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124203	0.56613	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.37	5.37	0.77165	.	0.055723	0.64402	D	0.000001	T	0.43986	0.1272	L	0.42245	1.32	0.80722	D	1	D;B;B;B	0.76494	0.999;0.124;0.026;0.026	D;B;B;B	0.64877	0.93;0.044;0.044;0.044	T	0.12400	-1.0549	10	0.07813	T	0.8	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	112;742;277;810	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	S	810;810;742;742;112;277	ENSP00000408464:A810S;ENSP00000394888:A742S;ENSP00000419438:A742S;ENSP00000371768:A112S;ENSP00000371766:A277S	ENSP00000287364:A810S	A	+	1	0	DOCK8	367199	1.000000	0.71417	0.405000	0.26409	0.909000	0.53808	9.651000	0.98493	2.517000	0.84864	0.655000	0.94253	GCT	DOCK8	-	NULL	ENSG00000107099		0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	8	0.00	0	G	XM_036307		377199	377199	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.999	T
FREM2	341640	genome.wustl.edu	37	13	39435627	39435627	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr13:39435627C>T	ENST00000280481.7	+	15	7795	c.7579C>T	c.(7579-7581)Cgc>Tgc	p.R2527C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2527					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCTAAATTGCGCTACACAGG	0.458																																						dbGAP											0													151.0	124.0	133.0					13																	39435627		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7579C>T	13.37:g.39435627C>T	ENSP00000280481:p.Arg2527Cys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R2527C	ENST00000280481.7	37	c.7579	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587678	0.66105	.	.	ENSG00000150893	ENST00000280481	T	0.22945	1.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.63097	-0.6713	10	0.87932	D	0	.	13.2605	0.60102	0.1587:0.8413:0.0:0.0	.	2527;2527	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2527	ENSP00000280481:R2527C	ENSP00000280481:R2527C	R	+	1	0	FREM2	38333627	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	4.684000	0.61686	2.368000	0.80403	0.655000	0.94253	CGC	FREM2	-	NULL	ENSG00000150893		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	98	0.00	0	C	NM_207361		39435627	39435627	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	1.000	T
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709627	22709627	+	RNA	SNP	C	C	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr15:22709627C>T	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCCATCTTACCCATCTGGTT	0.542																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709627C>T				Splice_Site	SNP	-	NULL	ENST00000314246.8	37	c.NULL		15	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568087	0.13560	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2876	0.15710	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC116165.1	20260991	0.212000	0.23540	0.009000	0.14445	0.015000	0.08874	0.590000	0.23954	0.820000	0.34516	0.274000	0.19336	.	GOLGA8DP	-	-	ENSG00000185182		0.542	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1	159	0.00	0	C	NR_027407		22709627	22709627	-1	no_errors	ENST00000314246	ensembl	human	known	69_37n	splice_site	48	26.15	17	SNP	0.884	T
HDAC1	3065	genome.wustl.edu	37	1	32768220	32768220	+	Splice_Site	SNP	A	A	G	rs111799984		TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr1:32768220A>G	ENST00000373548.3	+	2	133		c.e2-1		HDAC1_ENST00000373541.2_Splice_Site	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TCTCTTCTTCAGGGGATGTTG	0.453																																						dbGAP											0													103.0	90.0	95.0					1																	32768220		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.50-1A>G	1.37:g.32768220A>G			Q92534	Splice_Site	SNP	-	e2-2	ENST00000373548.3	37	c.50-2	CCDS360.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105935	0.77096	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	.	.	.	5.43	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3444	0.49552	0.9275:0.0:0.0725:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC1	32540807	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.612000	0.90909	1.012000	0.39366	0.529000	0.55759	.	HDAC1	-	-	ENSG00000116478		0.453	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	103	0.00	0	A	NM_004964	Intron	32768220	32768220	+1	no_errors	ENST00000373548	ensembl	human	known	69_37n	splice_site	28	40.82	20	SNP	1.000	G
MROH7	374977	genome.wustl.edu	37	1	55119090	55119090	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr1:55119090G>T	ENST00000421030.2	+	3	776	c.491G>T	c.(490-492)gGt>gTt	p.G164V	MROH7_ENST00000454855.2_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.G164V|MROH7_ENST00000395690.2_Missense_Mutation_p.G164V|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.G164V|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	164						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTCAAGTTGGGTCAGAGAAAC	0.493																																						dbGAP											0													87.0	78.0	81.0					1																	55119090		1866	4114	5980	-	-	-	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.491G>T	1.37:g.55119090G>T	ENSP00000396622:p.Gly164Val		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G164V	ENST00000421030.2	37	c.491	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208855	0.39003	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.05081	3.5;3.5;3.5	3.57	3.57	0.40892	.	0.521071	0.14742	N	0.301112	T	0.14141	0.0342	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02958	-1.1089	10	0.87932	D	0	.	10.947	0.47306	0.0:0.0:1.0:0.0	.	164;164;164	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	V	164	ENSP00000396622:G164V;ENSP00000343211:G164V;ENSP00000379044:G164V	ENSP00000343211:G164V	G	+	2	0	HEATR8	54891678	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	1.497000	0.35649	2.289000	0.77006	0.555000	0.69702	GGT	HEATR8	-	NULL	ENSG00000184313		0.493	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	85	0.00	0	G	NM_198547		55119090	55119090	+1	no_errors	ENST00000421030	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	1.000	T
KCND1	3750	genome.wustl.edu	37	X	48823411	48823411	+	Silent	SNP	C	C	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chrX:48823411C>T	ENST00000218176.3	-	2	2521	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	KCND1_ENST00000376477.1_Silent_p.V31V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	408					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TAAAGTTGGACACAATGACTG	0.577																																						dbGAP											0													137.0	91.0	107.0					X																	48823411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1224G>A	X.37:g.48823411C>T			A6NEF1|B2RCG0|O75671	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.V408	ENST00000218176.3	37	c.1224	CCDS14314.1	X																																																																																			KCND1	-	pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9	ENSG00000102057		0.577	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	53	0.00	0	C	NM_004979		48823411	48823411	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	silent	55	50.89	57	SNP	0.758	T
KCNN3	3782	genome.wustl.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr1:154842199_154842200insGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGC	c.(241-243)cca>cAGCca	p.80_81insQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						dbGAP											2	Insertion - In frame(2)	prostate(2)																																								-	-	-	SO:0001652	inframe_insertion	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241dupAGC	1.37:g.154842206_154842208dupGCT	ENSP00000271915:p.Gln80_Gln80dup		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.81in_frame_insQ	ENST00000271915.4	37	c.242_241	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	23	0.00	0	-	NM_002249		154842199	154842200	-1	no_errors	ENST00000271915	ensembl	human	known	69_37n	in_frame_ins	94	12.96	14	INS	0.748:0.982	GCT
MUC12	10071	genome.wustl.edu	37	7	100641631	100641631	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr7:100641631C>T	ENST00000379442.3	+	5	8216	c.8216C>T	c.(8215-8217)aCt>aTt	p.T2739I	MUC12_ENST00000536621.1_Missense_Mutation_p.T2596I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2739	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGCTCCACAACTTCGGGCCAC	0.547																																						dbGAP											0													1.0	1.0	1.0					7																	100641631		22	57	79	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8216C>T	7.37:g.100641631C>T	ENSP00000368755:p.Thr2739Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T2739I	ENST00000379442.3	37	c.8216		7	.	.	.	.	.	.	.	.	.	.	c	4.800	0.148656	0.09134	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11821	2.74;2.74	0.851	-0.355	0.12587	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37820	-0.9689	7	0.38643	T	0.18	.	3.7274	0.08480	0.4287:0.5713:0.0:0.0	.	.	.	.	I	2739;2596	ENSP00000368755:T2739I;ENSP00000441929:T2596I	ENSP00000368755:T2739I	T	+	2	0	MUC12	100428351	0.005000	0.15991	0.000000	0.03702	0.026000	0.11368	-0.096000	0.11059	-0.116000	0.11893	0.173000	0.16961	ACT	MUC12	-	NULL	ENSG00000205277		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	11	0.00	0	C	XM_379904		100641631	100641631	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.000	T
KMT2C	58508	genome.wustl.edu	37	7	151845739	151845739	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr7:151845739C>A	ENST00000262189.6	-	52	13491	c.13273G>T	c.(13273-13275)Gat>Tat	p.D4425Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4482Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4425					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCACAGATCCAAGTCAAGG	0.502																																						dbGAP											0													97.0	89.0	92.0					7																	151845739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13273G>T	7.37:g.151845739C>A	ENSP00000262189:p.Asp4425Tyr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4482Y	ENST00000262189.6	37	c.13444	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.290706|3.290706	0.59976|0.59976	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.90385|.	-2.0;-1.98;-2.66|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.44285|.	U|.	0.000480|.	T|T	0.78123|0.78123	0.4234|0.4234	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	T|T	0.78221|0.78221	-0.2288|-0.2288	10|5	0.49607|.	T|.	0.09|.	.|.	19.1777|19.1777	0.93609|0.93609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4425;3543;4482|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	Y|V	4425;4482;1042|1985	ENSP00000262189:D4425Y;ENSP00000347325:D4482Y;ENSP00000410411:D1042Y|.	ENSP00000262189:D4425Y|.	D|G	-|-	1|2	0|0	MLL3|MLL3	151476672|151476672	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	7.776000|7.776000	0.85560|0.85560	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	GAT|GGA	MLL3	-	NULL	ENSG00000055609		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	76	0.00	0	C			151845739	151845739	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9056515	9056515	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr19:9056515C>T	ENST00000397910.4	-	3	31134	c.30931G>A	c.(30931-30933)Ggc>Agc	p.G10311S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10313	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCCAGGGCCTGACTCTGTC	0.517																																						dbGAP											0													101.0	102.0	102.0					19																	9056515		2067	4207	6274	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30931G>A	19.37:g.9056515C>T	ENSP00000381008:p.Gly10311Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.G10311S	ENST00000397910.4	37	c.30931	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	9.143	1.014359	0.19277	.	.	ENSG00000181143	ENST00000397910	T	0.03468	3.92	3.38	0.986	0.19784	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	.	.	.	B	0.21381	0.055	B	0.14023	0.01	T	0.34601	-0.9822	8	0.87932	D	0	.	4.4502	0.11617	0.0:0.4828:0.0:0.5172	.	10311	B5ME49	.	S	10311	ENSP00000381008:G10311S	ENSP00000381008:G10311S	G	-	1	0	MUC16	8917515	0.000000	0.05858	0.017000	0.16124	0.109000	0.19521	-0.157000	0.10085	0.236000	0.21180	-0.687000	0.03738	GGC	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	71	0.00	0	C	NM_024690		9056515	9056515	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	68	26.09	24	SNP	0.022	T
PIP4K2C	79837	genome.wustl.edu	37	12	57989795	57989795	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr12:57989795A>G	ENST00000354947.5	+	4	510	c.494A>G	c.(493-495)aAc>aGc	p.N165S	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.N165S|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.N147S|PIP4K2C_ENST00000422156.3_Intron			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	165	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGCATAGCAACCTCTCCAAC	0.483																																						dbGAP											0													213.0	184.0	194.0					12																	57989795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.494A>G	12.37:g.57989795A>G	ENSP00000347032:p.Asn165Ser		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.N165S	ENST00000354947.5	37	c.494	CCDS8946.1	12	.	.	.	.	.	.	.	.	.	.	A	14.85	2.659369	0.47467	.	.	ENSG00000166908	ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.13	5.13	0.70059	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.109289	0.64402	D	0.000013	T	0.22704	0.0548	N	0.17082	0.46	0.35808	D	0.823629	B;B	0.15141	0.012;0.002	B;B	0.14578	0.011;0.005	T	0.17776	-1.0358	10	0.87932	D	0	-25.6743	8.4828	0.33054	0.7227:0.0:0.0:0.2773	.	147;165	B4DY44;Q8TBX8	.;PI42C_HUMAN	S	165;165;144;147;165	ENSP00000439878:N165S;ENSP00000450197:N144S;ENSP00000447390:N147S;ENSP00000347032:N165S	ENSP00000347032:N165S	N	+	2	0	PIP4K2C	56276062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.294000	0.59043	2.074000	0.62210	0.374000	0.22700	AAC	PIP4K2C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000166908		0.483	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2C	HGNC	protein_coding	OTTHUMT00000407644.1	125	0.00	0	A	NM_024779		57989795	57989795	+1	no_errors	ENST00000354947	ensembl	human	known	69_37n	missense	100	18.55	23	SNP	1.000	G
PRKRIR	5612	genome.wustl.edu	37	11	76062566	76062566	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr11:76062566G>A	ENST00000260045.3	-	5	1733	c.1628C>T	c.(1627-1629)gCa>gTa	p.A543V	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	543					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAGTTTGGTTGCCAAATTTGT	0.418																																						dbGAP											0													14.0	14.0	14.0					11																	76062566		1922	3767	5689	-	-	-	SO:0001583	missense	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1628C>T	11.37:g.76062566G>A	ENSP00000260045:p.Ala543Val		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A543V	ENST00000260045.3	37	c.1628	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647284	0.87958	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.045227	0.85682	D	0.000000	T	0.78610	0.4310	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78989	-0.1986	9	0.52906	T	0.07	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	543	O43422	P52K_HUMAN	V	368;543	.	ENSP00000260045:A543V	A	-	2	0	PRKRIR	75740214	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.987000	0.93497	2.607000	0.88179	0.644000	0.83932	GCA	PRKRIR	-	superfamily_RNaseH-like_dom	ENSG00000137492		0.418	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	49	0.00	0	G	NM_004705		76062566	76062566	-1	no_errors	ENST00000260045	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	A
SRCIN1	80725	genome.wustl.edu	37	17	36719585	36719585	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr17:36719585G>C	ENST00000264659.7	-	5	938	c.714C>G	c.(712-714)aaC>aaG	p.N238K	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.N272K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	110					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGTAGAAGACGTTGCGAGCCT	0.647																																						dbGAP											0													42.0	47.0	45.0					17																	36719585		2147	4228	6375	-	-	-	SO:0001583	missense	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.714C>G	17.37:g.36719585G>C	ENSP00000264659:p.Asn238Lys		Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.N238K	ENST00000264659.7	37	c.714	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985937	0.74589	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.56275	0.47	5.15	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.73598	2.24	0.40606	D	0.981621	D;D;D;D	0.89917	0.966;1.0;1.0;1.0	P;D;D;D	0.85130	0.835;0.997;0.997;0.995	T	0.66578	-0.5888	10	0.72032	D	0.01	-32.9709	8.176	0.31283	0.342:0.0:0.658:0.0	.	92;110;110;238	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	K	238;19;92	ENSP00000264659:N238K	ENSP00000264659:N238K	N	-	3	2	SRCIN1	33973111	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	0.078000	0.14761	0.230000	0.21059	0.650000	0.86243	AAC	SRCIN1	-	pfam_AIP3_C	ENSG00000017373		0.647	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	10	0.00	0	G	NM_025248		36719585	36719585	-1	no_errors	ENST00000264659	ensembl	human	known	69_37n	missense	36	40.32	25	SNP	1.000	C
TNNI3	7137	genome.wustl.edu	37	19	55666131	55666131	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr19:55666131T>C	ENST00000344887.5	-	6	492	c.350A>G	c.(349-351)aAa>aGa	p.K117R	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.K92R|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	117					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTGGTGACTTTTGCCTCTAT	0.587																																						dbGAP											0													148.0	150.0	149.0					19																	55666131		2132	4229	6361	-	-	-	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.350A>G	19.37:g.55666131T>C	ENSP00000341838:p.Lys117Arg			Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.K117R	ENST00000344887.5	37	c.350	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232785	0.39498	.	.	ENSG00000129991	ENST00000344887	D	0.94931	-3.56	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000014	D	0.92166	0.7516	M	0.65975	2.015	0.42037	D	0.991053	B	0.19073	0.033	B	0.22386	0.039	D	0.89382	0.3682	10	0.45353	T	0.12	-6.4823	8.3532	0.32314	0.0:0.097:0.0:0.903	.	117	P19429	TNNI3_HUMAN	R	117	ENSP00000341838:K117R	ENSP00000341838:K117R	K	-	2	0	TNNI3	60357943	1.000000	0.71417	0.994000	0.49952	0.628000	0.37860	3.259000	0.51515	1.782000	0.52362	0.397000	0.26171	AAA	TNNI3	-	pfam_Troponin	ENSG00000129991		0.587	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	129	0.77	1	T			55666131	55666131	-1	no_errors	ENST00000344887	ensembl	human	known	69_37n	missense	90	31.06	41	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179435537	179435537	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr2:179435537G>A	ENST00000591111.1	-	276	70623	c.70399C>T	c.(70399-70401)Cca>Tca	p.P23467S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25108S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22540S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16235S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16168S|TTN_ENST00000460472.2_Missense_Mutation_p.P16043S			Q8WZ42	TITIN_HUMAN	titin	23467					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCGTGGTGGATCTACCTCA	0.433																																						dbGAP											0													257.0	222.0	233.0					2																	179435537		1949	4145	6094	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70399C>T	2.37:g.179435537G>A	ENSP00000465570:p.Pro23467Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P22540S	ENST00000591111.1	37	c.67618		2	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975407	0.34848	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	5.72	0.89469	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62454	0.2429	L	0.51853	1.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.62025	-0.6941	9	0.87932	D	0	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	16043;16168;16235;23467	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22540;16043;16235;16168;16041	ENSP00000343764:P22540S;ENSP00000434586:P16043S;ENSP00000340554:P16235S;ENSP00000352154:P16168S	ENSP00000340554:P16235S	P	-	1	0	TTN	179143783	1.000000	0.71417	0.971000	0.41717	0.537000	0.34900	9.751000	0.98889	2.850000	0.98022	0.650000	0.86243	CCA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	320	0.00	0	G	NM_133378		179435537	179435537	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	113	11.02	14	SNP	1.000	A
ZFC3H1	196441	genome.wustl.edu	37	12	72008334	72008334	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RP-01A-21D-A099-09	TCGA-B6-A0RP-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	efbdb449-b885-44bb-9054-9e97d6603cad	d989e1d9-e13d-4767-b907-b450b745a00e	g.chr12:72008334T>A	ENST00000378743.3	-	30	5865	c.5507A>T	c.(5506-5508)aAc>aTc	p.N1836I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1836					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTCATAGTTGGACCAGTA	0.318																																						dbGAP											0													107.0	105.0	106.0					12																	72008334		1806	4068	5874	-	-	-	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5507A>T	12.37:g.72008334T>A	ENSP00000368017:p.Asn1836Ile		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.N1836I	ENST00000378743.3	37	c.5507	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966360	0.53507	.	.	ENSG00000133858	ENST00000378743	T	0.34072	1.38	5.44	5.44	0.79542	.	0.154508	0.56097	D	0.000030	T	0.26521	0.0648	N	0.19112	0.55	0.80722	D	1	P	0.48230	0.907	B	0.43623	0.425	T	0.07252	-1.0782	10	0.87932	D	0	.	9.9331	0.41534	0.0:0.0761:0.0:0.9239	.	1836	O60293	ZC3H1_HUMAN	I	1836	ENSP00000368017:N1836I	ENSP00000368017:N1836I	N	-	2	0	ZFC3H1	70294601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.140000	0.50585	2.062000	0.61559	0.455000	0.32223	AAC	ZFC3H1	-	NULL	ENSG00000133858		0.318	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	151	0.00	0	T	NM_144982		72008334	72008334	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	A
