#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCB11	8647	genome.wustl.edu	37	2	169780189	169780189	+	Silent	SNP	C	C	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr2:169780189C>T	ENST00000263817.6	-	28	4033	c.3909G>A	c.(3907-3909)ctG>ctA	p.L1303L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1303	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTGGGCCATCAGTTCTTCAT	0.507																																						dbGAP											0													154.0	154.0	154.0					2																	169780189		2018	4206	6224	-	-	-	SO:0001819	synonymous_variant	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3909G>A	2.37:g.169780189C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1303	ENST00000263817.6	37	c.3909	CCDS46444.1	2																																																																																			ABCB11	-	pfscan_ABC_transporter-like	ENSG00000073734		0.507	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	115	0.00	0	C	NM_003742		169780189	169780189	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	silent	122	11.59	16	SNP	1.000	T
ABI3BP	25890	genome.wustl.edu	37	3	100569509	100569509	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr3:100569509G>A	ENST00000284322.5	-	14	1404	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	ABI3BP_ENST00000495063.1_Missense_Mutation_p.T481I|ABI3BP_ENST00000471714.1_Missense_Mutation_p.T481I	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	432	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTACCCAGTGTTGCCCTTGG	0.338																																						dbGAP											0													120.0	117.0	118.0					3																	100569509		1808	4071	5879	-	-	-	SO:0001583	missense	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1295C>T	3.37:g.100569509G>A	ENSP00000284322:p.Thr432Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T432I	ENST00000284322.5	37	c.1295	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.261169|4.261169	0.80246|0.80246	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|T;T;T	.|0.57595	.|0.39;0.39;0.39	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.180138	.|0.47455	.|D	.|0.000232	T|T	0.72045|0.72045	0.3412|0.3412	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.973	.|D;P	.|0.74674	.|0.984;0.623	T|T	0.71981|0.71981	-0.4428|-0.4428	5|10	.|0.66056	.|D	.|0.02	-21.4979|-21.4979	18.7629|18.7629	0.91860|0.91860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|481;432	.|Q5JPC9;Q7Z7G0	.|.;TARSH_HUMAN	Y|I	110|481;432;481	.|ENSP00000420524:T481I;ENSP00000284322:T432I;ENSP00000433993:T481I	.|ENSP00000284322:T432I	H|T	-|-	1|2	0|0	ABI3BP|ABI3BP	102052199|102052199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.394000|4.394000	0.59671|0.59671	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAC|ACA	ABI3BP	-	NULL	ENSG00000154175		0.338	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	79	0.00	0	G			100569509	100569509	-1	no_errors	ENST00000284322	ensembl	human	known	69_37n	missense	93	10.58	11	SNP	1.000	A
COL20A1	57642	genome.wustl.edu	37	20	61939943	61939943	+	Silent	SNP	C	C	G			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr20:61939943C>G	ENST00000358894.6	+	8	925	c.825C>G	c.(823-825)ggC>ggG	p.G275G	COL20A1_ENST00000326996.6_Silent_p.G275G|COL20A1_ENST00000422202.1_Silent_p.G282G|COL20A1_ENST00000435874.1_Silent_p.G282G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGGCGGCTGGCCTCCGTCCAG	0.647																																						dbGAP											0													10.0	14.0	13.0					20																	61939943		1966	4138	6104	-	-	-	SO:0001819	synonymous_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.825C>G	20.37:g.61939943C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G275	ENST00000358894.6	37	c.825	CCDS46628.1	20																																																																																			COL20A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000101203		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	9	0.00	0	C	NM_020882		61939943	61939943	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.006	G
DAXX	1616	genome.wustl.edu	37	6	33288266	33288266	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr6:33288266A>C	ENST00000374542.5	-	4	1346	c.1142T>G	c.(1141-1143)aTg>aGg	p.M381R	DAXX_ENST00000414083.2_Missense_Mutation_p.M306R|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.M381R|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	381	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTCTTGCAACATTGCATATTT	0.547			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	dbGAP		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													97.0	91.0	93.0					6																	33288266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1142T>G	6.37:g.33288266A>C	ENSP00000363668:p.Met381Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.M381R	ENST00000374542.5	37	c.1142	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404712	0.25378	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.56	4.56	0.56223	.	0.499478	0.23485	N	0.047666	T	0.16557	0.0398	L	0.28115	0.83	0.35073	D	0.762659	B;P;P	0.40250	0.019;0.709;0.709	B;B;B	0.41510	0.011;0.359;0.359	T	0.03651	-1.1016	9	0.12103	T	0.63	-2.2832	7.4733	0.27361	0.8078:0.0:0.0:0.1922	.	393;381;381	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	R	381;381;306	.	ENSP00000266000:M381R	M	-	2	0	DAXX	33396244	0.996000	0.38824	0.938000	0.37757	0.867000	0.49689	2.681000	0.46926	1.927000	0.55829	0.523000	0.50628	ATG	DAXX	-	pfam_Daxx	ENSG00000204209		0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	36	0.00	0	A			33288266	33288266	-1	no_errors	ENST00000266000	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.967	C
FGGY	55277	genome.wustl.edu	37	1	60073504	60073504	+	Silent	SNP	C	C	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr1:60073504C>T	ENST00000303721.7	+	9	1107	c.933C>T	c.(931-933)ggC>ggT	p.G311G	FGGY_ENST00000371212.1_Silent_p.G223G|FGGY_ENST00000371210.1_Silent_p.G12G|FGGY_ENST00000371218.4_Silent_p.G311G|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	311					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.G199G(1)|p.G311G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTGTACCAGGCGTCTGGGGGC	0.453																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											119.0	123.0	122.0					1																	60073504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.933C>T	1.37:g.60073504C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.G311	ENST00000303721.7	37	c.933	CCDS611.2	1																																																																																			FGGY	-	pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.453	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	94	0.00	0	C	NM_001113411		60073504	60073504	+1	no_errors	ENST00000303721	ensembl	human	known	69_37n	silent	61	19.74	15	SNP	0.002	T
GSTM3	2947	genome.wustl.edu	37	1	110279617	110279617	+	3'UTR	SNP	G	G	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr1:110279617G>A	ENST00000540225.1	-	0	1064				GSTM3_ENST00000256594.3_3'UTR|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_3'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)						cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	GCTATTCATTGAAAAGAGCAA	0.443																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.*76C>T	1.37:g.110279617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60550|Q96HA3	RNA	SNP	-	NULL	ENST00000540225.1	37	NULL	CCDS812.1	1																																																																																			GSTM3	-	-	ENSG00000134202		0.443	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1	21	0.00	0	G	NM_000849		110279617	110279617	-1	no_errors	ENST00000476321	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	1.000	A
KLHL4	56062	genome.wustl.edu	37	X	86772968	86772968	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chrX:86772968T>A	ENST00000373119.4	+	1	217	c.72T>A	c.(70-72)caT>caA	p.H24Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.H24Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	24						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGTTTAGTCATCCTTTTCAAG	0.502																																						dbGAP											0													111.0	100.0	104.0					X																	86772968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.72T>A	X.37:g.86772968T>A	ENSP00000362211:p.His24Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.H24Q	ENST00000373119.4	37	c.72	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244777	0.59103	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.90844	-2.74;-2.73	4.83	1.17	0.20885	.	0.000000	0.64402	D	0.000002	D	0.93200	0.7834	M	0.75264	2.295	0.47065	D	0.999303	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.991	D	0.90843	0.4725	10	0.87932	D	0	.	6.541	0.22380	0.0:0.5792:0.0:0.4208	.	24;24	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Q	24	ENSP00000362211:H24Q;ENSP00000362206:H24Q	ENSP00000362206:H24Q	H	+	3	2	KLHL4	86659624	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.507000	0.35758	0.223000	0.20920	0.417000	0.27973	CAT	KLHL4	-	NULL	ENSG00000102271		0.502	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	49	0.00	0	T			86772968	86772968	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	A
LCE1C	353133	genome.wustl.edu	37	1	152777633	152777633	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr1:152777633C>T	ENST00000607093.1	-	1	321	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	LCE1C_ENST00000368768.1_Missense_Mutation_p.G108R			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	108	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCCCCCGCCACAGCAG	0.662																																						dbGAP											0													37.0	45.0	42.0					1																	152777633		2180	4273	6453	-	-	-	SO:0001583	missense	0				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.322G>A	1.37:g.152777633C>T	ENSP00000475270:p.Gly108Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G108R	ENST00000607093.1	37	c.322	CCDS1026.1	1	.	.	.	.	.	.	.	.	.	.	C	0.209	-1.037755	0.02013	.	.	ENSG00000197084	ENST00000368768	T	0.03889	3.77	2.82	1.91	0.25777	.	.	.	.	.	T	0.06554	0.0168	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22730	-1.0208	9	0.87932	D	0	.	7.8743	0.29584	0.0:0.7432:0.2568:0.0	.	108	Q5T751	LCE1C_HUMAN	R	108	ENSP00000357757:G108R	ENSP00000357757:G108R	G	-	1	0	LCE1C	151044257	0.000000	0.05858	0.027000	0.17364	0.007000	0.05969	-0.012000	0.12699	0.762000	0.33152	-0.121000	0.15023	GGG	LCE1C	-	NULL	ENSG00000197084		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1C	HGNC	protein_coding	OTTHUMT00000034658.2	22	0.00	0	C	NM_178351		152777633	152777633	-1	no_errors	ENST00000368768	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.032	T
LIPE	3991	genome.wustl.edu	37	19	42911525	42911525	+	Silent	SNP	C	C	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr19:42911525C>T	ENST00000244289.4	-	6	2214	c.1938G>A	c.(1936-1938)ctG>ctA	p.L646L	LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	646					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGTGCACTATCAGGGACCGCG	0.667																																						dbGAP											0													24.0	27.0	26.0					19																	42911525		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1938G>A	19.37:g.42911525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LRT2|Q6NSL7	Silent	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.L646	ENST00000244289.4	37	c.1938	CCDS12607.1	19																																																																																			LIPE	-	pfam_Steryl_acetyl_hydrolase	ENSG00000079435		0.667	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	24	0.00	0	C	NM_005357		42911525	42911525	-1	no_errors	ENST00000244289	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	0.574	T
MAGEA12	4111	genome.wustl.edu	37	X	151900087	151900087	+	Silent	SNP	G	G	C			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chrX:151900087G>C	ENST00000357916.4	-	2	869	c.714C>G	c.(712-714)gtC>gtG	p.V238V	MAGEA12_ENST00000393869.3_Silent_p.V238V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.V238V	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCGCAAAGACACTGTCCT	0.567																																						dbGAP											0													172.0	156.0	162.0					X																	151900087		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.714C>G	X.37:g.151900087G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V238	ENST00000357916.4	37	c.714	CCDS14710.1	X																																																																																			MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.567	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	98	0.00	0	G	NM_005367		151900087	151900087	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	silent	90	12.62	13	SNP	0.000	C
NCF4	4689	genome.wustl.edu	37	22	37266473	37266473	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr22:37266473C>G	ENST00000248899.6	+	5	543	c.359C>G	c.(358-360)cCg>cGg	p.P120R	CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.P120R	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	120	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CTCAGCCTGCCGGTCTGGGTG	0.642																																						dbGAP											0													89.0	77.0	81.0					22																	37266473		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.359C>G	22.37:g.37266473C>G	ENSP00000248899:p.Pro120Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_NCF_P40,prints_p67phox,pfscan_Phox,pfscan_SH3_domain	p.P120R	ENST00000248899.6	37	c.359	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812842	0.50527	.	.	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	T;T;T	0.73897	-0.79;1.18;1.18	4.65	4.65	0.58169	Phox homologous domain (5);	0.074718	0.53938	D	0.000047	D	0.86924	0.6050	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88887	0.3343	10	0.66056	D	0.02	-33.7931	17.9261	0.88983	0.0:1.0:0.0:0.0	.	120;120	A8K4F9;Q15080	.;NCF4_HUMAN	R	17;120;120	ENSP00000414958:P17R;ENSP00000248899:P120R;ENSP00000380334:P120R	ENSP00000248899:P120R	P	+	2	0	NCF4	35596419	1.000000	0.71417	0.938000	0.37757	0.323000	0.28346	6.725000	0.74752	2.281000	0.76405	0.645000	0.84053	CCG	NCF4	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000100365		0.642	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	49	0.00	0	C	NM_000631		37266473	37266473	+1	no_errors	ENST00000397147	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	0.994	G
NCOA5	57727	genome.wustl.edu	37	20	44693794	44693794	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr20:44693794C>G	ENST00000290231.6	-	6	867	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGTGACACTTCTGTGTTAAGG	0.493																																						dbGAP											0													289.0	226.0	247.0					20																	44693794		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.703G>C	20.37:g.44693794C>G	ENSP00000290231:p.Glu235Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.E235Q	ENST00000290231.6	37	c.703	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451384	0.84209	.	.	ENSG00000124160	ENST00000290231	T	0.54675	0.56	5.38	5.38	0.77491	Anticodon-binding (2);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	L	0.49350	1.555	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	T	0.67035	-0.5772	10	0.51188	T	0.08	-6.311	18.3063	0.90182	0.0:1.0:0.0:0.0	.	235	Q9HCD5	NCOA5_HUMAN	Q	235	ENSP00000290231:E235Q	ENSP00000290231:E235Q	E	-	1	0	NCOA5	44127201	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GAA	NCOA5	-	superfamily_Anticodon-bd	ENSG00000124160		0.493	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	61	0.00	0	C	NM_020967		44693794	44693794	-1	no_errors	ENST00000290231	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	G
OTOGL	283310	genome.wustl.edu	37	12	80765807	80765807	+	Silent	SNP	G	G	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr12:80765807G>A	ENST00000547103.1	+	56	6687	c.6681G>A	c.(6679-6681)ggG>ggA	p.G2227G	OTOGL_ENST00000546620.1_Silent_p.G258G|OTOGL_ENST00000458043.2_Silent_p.G2239G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2227					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAATGAAGGGATTGTGAAGC	0.308																																						dbGAP											0													111.0	103.0	106.0					12																	80765807		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6681G>A	12.37:g.80765807G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_TIL_dom,smart_Unchr_dom_Cys-rich,smart_Cys_knot_C,pfscan_Cys_knot_C	p.G647E	ENST00000547103.1	37	c.1940		12	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702809	0.15172	.	.	ENSG00000165899	ENST00000298820	T	0.32753	1.44	5.98	-9.3	0.00649	.	0.067205	0.56097	D	0.000021	T	0.11922	0.0290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29941	-0.9995	7	0.11182	T	0.66	.	3.2688	0.06874	0.4574:0.284:0.1023:0.1563	.	.	.	.	E	647	ENSP00000298820:G647E	ENSP00000298820:G647E	G	+	2	0	OTOGL	79289938	0.000000	0.05858	0.030000	0.17652	0.979000	0.70002	-1.680000	0.01939	-1.304000	0.02329	0.591000	0.81541	GGA	OTOGL	-	NULL	ENSG00000165899		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	91	0.00	0	G	NM_173591		80765807	80765807	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000298820	ensembl	human	novel	69_37n	missense	83	15.15	15	SNP	0.000	A
PDCD10	11235	genome.wustl.edu	37	3	167437925	167437925	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr3:167437925C>G	ENST00000392750.2	-	3	438	c.21G>C	c.(19-21)gaG>gaC	p.E7D	PDCD10_ENST00000470131.1_Missense_Mutation_p.E7D|PDCD10_ENST00000497056.2_Missense_Mutation_p.E7D|PDCD10_ENST00000461494.1_Missense_Mutation_p.E7D|PDCD10_ENST00000473645.2_Missense_Mutation_p.E7D|PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000471885.1_Missense_Mutation_p.E7D|PDCD10_ENST00000487947.2_Missense_Mutation_p.E7D|PDCD10_ENST00000487678.1_5'Flank	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	7					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						CATTCTTCATCTCTTCCATTG	0.393																																						dbGAP											0													238.0	222.0	228.0					3																	167437925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.21G>C	3.37:g.167437925C>G	ENSP00000376506:p.Glu7Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.E7D	ENST00000392750.2	37	c.21	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819208	0.71028	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	T;T;T;T;T;T;T;T;T;T	0.47869	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.84;0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	N	0.08118	0	0.80722	D	1	P	0.42993	0.797	P	0.60117	0.869	T	0.55976	-0.8055	10	0.52906	T	0.07	-5.1092	19.0599	0.93085	0.0:1.0:0.0:0.0	.	7	Q9BUL8	PDC10_HUMAN	D	7	ENSP00000376506:E7D;ENSP00000418317:E7D;ENSP00000420553:E7D;ENSP00000420021:E7D;ENSP00000417202:E7D;ENSP00000417118:E7D;ENSP00000420266:E7D;ENSP00000417876:E7D;ENSP00000420424:E7D;ENSP00000420014:E7D	ENSP00000376506:E7D	E	-	3	2	PDCD10	168920619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.722000	0.68485	2.941000	0.99782	0.655000	0.94253	GAG	PDCD10	-	NULL	ENSG00000114209		0.393	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	120	0.00	0	C	NM_007217		167437925	167437925	-1	no_errors	ENST00000392750	ensembl	human	known	69_37n	missense	95	12.04	13	SNP	1.000	G
POTEE	445582	genome.wustl.edu	37	2	132021946	132021946	+	Missense_Mutation	SNP	G	G	A	rs62178369	byFrequency	TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr2:132021946G>A	ENST00000356920.5	+	15	3012	c.2918G>A	c.(2917-2919)gGc>gAc	p.G973D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	973	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GAATCCTGTGGCATCCATGAA	0.572																																						dbGAP											0													2.0	1.0	1.0					2																	132021946		585	948	1533	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2918G>A	2.37:g.132021946G>A	ENSP00000439189:p.Gly973Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G973D	ENST00000356920.5	37	c.2918	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994529	0.54041	.	.	ENSG00000188219	ENST00000356920	D	0.97352	-4.35	.	.	.	.	.	.	.	.	D	0.99074	0.9682	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96048	0.9029	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	973	Q6S8J3	POTEE_HUMAN	D	973	ENSP00000439189:G973D	ENSP00000439189:G973D	G	+	2	0	AC131180.1	131738416	1.000000	0.71417	0.305000	0.25099	0.308000	0.27856	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GGC	AC131180.1	-	pfam_Actin-like,smart_Actin-like	ENSG00000188219		0.572	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		22	0.00	0	G	NM_001083538		132021946	132021946	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	A
PRKAR1A	5573	genome.wustl.edu	37	17	66526498	66526498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr17:66526498C>T	ENST00000589228.1	+	11	1182	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R352*|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R352*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R352*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R352*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	352					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TAAGCTGGACCGACCTAGATT	0.493			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	dbGAP	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	0													257.0	207.0	224.0					17																	66526498		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1054C>T	17.37:g.66526498C>T	ENSP00000464977:p.Arg352*	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ER48|Q567S7	Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.R352*	ENST00000589228.1	37	c.1054	CCDS11678.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.350472	0.98228	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.9	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5886	15.8743	0.79151	0.1361:0.8639:0.0:0.0	.	.	.	.	X	352	.	ENSP00000351410:R352X	R	+	1	2	PRKAR1A	64038093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.853000	0.62911	2.793000	0.96121	0.591000	0.81541	CGA	PRKAR1A	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000108946		0.493	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR1A	HGNC	protein_coding	OTTHUMT00000449884.1	76	0.00	0	C			66526498	66526498	+1	no_errors	ENST00000358598	ensembl	human	known	69_37n	nonsense	71	14.46	12	SNP	1.000	T
TM4SF19	116211	genome.wustl.edu	37	3	196054386	196054386	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr3:196054386C>A	ENST00000273695.3	-	2	201	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	TM4SF19_ENST00000454715.1_Missense_Mutation_p.A26S|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.A26S|TM4SF19_ENST00000446879.1_Missense_Mutation_p.A26S	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	26						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCAAACAGGGCTGCAGTCCCA	0.602																																						dbGAP											0													108.0	94.0	99.0					3																	196054386		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.76G>T	3.37:g.196054386C>A	ENSP00000273695:p.Ala26Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	pfam_L6_membrane	p.A26S	ENST00000273695.3	37	c.76	CCDS3316.1	3	.	.	.	.	.	.	.	.	.	.	C	7.671	0.687073	0.14973	.	.	ENSG00000145107	ENST00000446879;ENST00000454715;ENST00000273695	T;T;T	0.35048	1.33;1.33;1.33	5.8	3.92	0.45320	.	0.253475	0.30556	N	0.009371	T	0.27454	0.0674	L	0.33792	1.035	0.27077	N	0.963181	B;P;B	0.42735	0.106;0.788;0.362	B;B;B	0.40285	0.051;0.325;0.106	T	0.06023	-1.0850	10	0.30078	T	0.28	-6.8934	11.1615	0.48518	0.347:0.653:0.0:0.0	.	26;26;26	E9PH22;C9JCD5;Q96DZ7	.;.;T4S19_HUMAN	S	26	ENSP00000395280:A26S;ENSP00000387728:A26S;ENSP00000273695:A26S	ENSP00000273695:A26S	A	-	1	0	TM4SF19	197538783	0.935000	0.31712	0.672000	0.29872	0.994000	0.84299	1.870000	0.39529	0.707000	0.31934	0.655000	0.94253	GCC	TM4SF19	-	pfam_L6_membrane	ENSG00000145107		0.602	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF19	HGNC	protein_coding	OTTHUMT00000341174.1	21	0.00	0	C	NM_138461		196054386	196054386	-1	no_errors	ENST00000273695	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.828	A
TNFRSF11A	8792	genome.wustl.edu	37	18	60036105	60036105	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr18:60036105G>A	ENST00000586569.1	+	9	993	c.955G>A	c.(955-957)Gca>Aca	p.A319T	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	319					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGTCCCTACGCACAAGGCGA	0.507																																						dbGAP											0													182.0	148.0	159.0					18																	60036105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.955G>A	18.37:g.60036105G>A	ENSP00000465500:p.Ala319Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.A319T	ENST00000586569.1	37	c.955	CCDS11980.1	18	.	.	.	.	.	.	.	.	.	.	G	3.620	-0.077768	0.07184	.	.	ENSG00000141655	ENST00000269485	.	.	.	2.66	-1.37	0.09056	.	3.234460	0.01346	N	0.011749	T	0.25494	0.0620	N	0.13043	0.29	0.09310	N	1	B	0.21452	0.056	B	0.10450	0.005	T	0.10894	-1.0610	8	.	.	.	-0.0109	7.1951	0.25847	0.4653:0.0:0.5347:0.0	.	319	Q9Y6Q6	TNR11_HUMAN	T	319	.	.	A	+	1	0	TNFRSF11A	58187085	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.118000	0.15605	-0.371000	0.08004	-0.244000	0.11960	GCA	TNFRSF11A	-	NULL	ENSG00000141655		0.507	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	HGNC	protein_coding	OTTHUMT00000256186.2	46	0.00	0	G			60036105	60036105	+1	no_errors	ENST00000586569	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	0.000	A
TNPO3	23534	genome.wustl.edu	37	7	128658078	128658078	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr7:128658078G>C	ENST00000265388.5	-	2	397	c.254C>G	c.(253-255)tCt>tGt	p.S85C	TNPO3_ENST00000393245.1_Missense_Mutation_p.S85C|TNPO3_ENST00000471234.1_Missense_Mutation_p.S85C|TNPO3_ENST00000471166.1_Missense_Mutation_p.S85C|TNPO3_ENST00000482320.1_Missense_Mutation_p.S19C			Q9Y5L0	TNPO3_HUMAN	transportin 3	85					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTCCCGTAAAGAGGCATGAGA	0.433																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													149.0	137.0	141.0					7																	128658078		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.254C>G	7.37:g.128658078G>C	ENSP00000265388:p.Ser85Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.S85C	ENST00000265388.5	37	c.254	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	30	5.055463	0.93793	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.050007	0.85682	D	0.000000	D	0.84183	0.5416	M	0.88450	2.955	0.58432	D	0.999996	D;D;D	0.89917	0.981;1.0;0.965	P;D;P	0.68943	0.778;0.961;0.779	D	0.86194	0.1614	10	0.59425	D	0.04	.	17.2971	0.87173	0.0:0.0:1.0:0.0	.	85;85;85	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	C	85;85;19;85;85	ENSP00000376936:S85C;ENSP00000265388:S85C;ENSP00000420089:S19C;ENSP00000418646:S85C;ENSP00000418267:S85C	ENSP00000265388:S85C	S	-	2	0	TNPO3	128445314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.721000	0.98766	2.762000	0.94881	0.655000	0.94253	TCT	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.433	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	65	0.00	0	G	NM_012470		128658078	128658078	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	missense	86	13.00	13	SNP	1.000	C
UGP2	7360	genome.wustl.edu	37	2	64117287	64117287	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr2:64117287G>T	ENST00000337130.5	+	9	1863	c.1387G>T	c.(1387-1389)Gat>Tat	p.D463Y	UGP2_ENST00000445915.2_Missense_Mutation_p.D472Y|UGP2_ENST00000467648.2_Missense_Mutation_p.D452Y|UGP2_ENST00000394417.2_Missense_Mutation_p.D452Y	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	463	Oligomerization.				carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGTTTCAGGAGATGTGACATT	0.289																																						dbGAP											0													95.0	99.0	98.0					2																	64117287		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1387G>T	2.37:g.64117287G>T	ENSP00000338703:p.Asp463Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.D463Y	ENST00000337130.5	37	c.1387	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381533	0.82792	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74999	-0.3472	10	0.87932	D	0	-13.534	20.0953	0.97838	0.0:0.0:1.0:0.0	.	472;463	E7EUC7;Q16851	.;UGPA_HUMAN	Y	452;452;463;472	ENSP00000377939:D452Y;ENSP00000420793:D452Y;ENSP00000338703:D463Y;ENSP00000411803:D472Y	ENSP00000338703:D463Y	D	+	1	0	UGP2	63970791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.767000	0.95098	0.655000	0.94253	GAT	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	ENSG00000169764		0.289	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	78	0.00	0	G	NM_006759		64117287	64117287	+1	no_errors	ENST00000337130	ensembl	human	known	69_37n	missense	32	13.16	5	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179438786	179438786	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24U-01A-11D-A167-09	TCGA-AR-A24U-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	567cdc6c-df03-4642-8cbc-a269769ce1a1	12e573ba-3762-4877-b0c4-3631afa3c30b	g.chr2:179438786C>G	ENST00000591111.1	-	276	67374	c.67150G>C	c.(67150-67152)Gag>Cag	p.E22384Q	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15152Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15085Q|TTN_ENST00000460472.2_Missense_Mutation_p.E14960Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E24025Q|TTN_ENST00000342992.6_Missense_Mutation_p.E21457Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22384					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)			TTTGGTGCCTCAACATCATCC	0.463																																						dbGAP											0													93.0	87.0	89.0					2																	179438786		1950	4148	6098	-	-	-	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.67150G>C	2.37:g.179438786C>G	ENSP00000465570:p.Glu22384Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E21457Q	ENST00000591111.1	37	c.64369		2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448138	0.63178	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.68	5.68	0.88126	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60856	0.2301	L	0.56340	1.77	0.58432	D	0.999994	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;P;P;D	0.64144	0.863;0.863;0.863;0.922	T	0.61710	-0.7007	9	0.87932	D	0	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	14960;15085;15152;22384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21457;14960;15152;15085;14958	ENSP00000343764:E21457Q;ENSP00000434586:E14960Q;ENSP00000340554:E15152Q;ENSP00000352154:E15085Q	ENSP00000340554:E15152Q	E	-	1	0	TTN	179147032	1.000000	0.71417	0.991000	0.47740	0.650000	0.38633	7.770000	0.85390	2.692000	0.91855	0.561000	0.74099	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	64	0.00	0	C	NM_133378		179438786	179438786	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	45	13.21	7	SNP	1.000	G
