#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
ADAMTS6	11174	genome.wustl.edu	37	5	64748575	64748575	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr5:64748575G>A	ENST00000536360.1	-	5	1615	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	268	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGTCTTTGCGGCCATGGTAG	0.383																																						dbGAP											0													166.0	149.0	155.0					5																	64748575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.802C>T	5.37:g.64748575G>A	ENSP00000440995:p.Arg268Cys		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R268C	ENST00000536360.1	37	c.802		5	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736410	0.69189	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94322	0.7554	10	0.72032	D	0.01	.	19.1332	0.93415	0.0:0.0:1.0:0.0	.	268	Q9UKP5	ATS6_HUMAN	C	268	ENSP00000370443:R268C;ENSP00000423551:R268C;ENSP00000440995:R268C	ENSP00000261306:R268C	R	-	1	0	ADAMTS6	64784331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.858000	0.86971	2.502000	0.84385	0.563000	0.77884	CGC	ADAMTS6	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000049192		0.383	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		119	0.83	1	G	NM_197941		64748575	64748575	-1	no_errors	ENST00000381055	ensembl	human	known	69_37n	missense	134	44.44	108	SNP	1.000	A
AMY2A	279	genome.wustl.edu	37	1	104162362	104162362	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr1:104162362A>T	ENST00000414303.2	+	4	764	c.700A>T	c.(700-702)Agt>Tgt	p.S234C		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	234					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TAATCTAAACAGTAACTGGTT	0.378																																						dbGAP											0													7.0	6.0	6.0					1																	104162362		2051	3998	6049	-	-	-	SO:0001583	missense	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.700A>T	1.37:g.104162362A>T	ENSP00000397582:p.Ser234Cys		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.S234C	ENST00000414303.2	37	c.700	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	a	6.080	0.383125	0.11524	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	2.96	2.96	0.34315	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.330522	0.31370	N	0.007772	T	0.26702	0.0653	L	0.39898	1.24	0.33538	D	0.594457	B;B	0.09022	0.001;0.002	B;B	0.14578	0.004;0.011	T	0.29027	-1.0025	9	0.72032	D	0.01	.	11.1638	0.48531	1.0:0.0:0.0:0.0	.	234;234	B9EJG1;P04746	.;AMYP_HUMAN	C	234	.	ENSP00000377509:S234C	S	+	1	0	AMY2A	103963885	0.994000	0.37717	0.077000	0.20336	0.075000	0.17131	6.731000	0.74785	1.339000	0.45563	0.254000	0.18369	AGT	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000243480		0.378	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	91	0.00	0	A	NM_000699		104162362	104162362	+1	no_errors	ENST00000414303	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.994	T
ANGPT2	285	genome.wustl.edu	37	8	6420368	6420368	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr8:6420368C>G	ENST00000325203.5	-	1	562	c.88G>C	c.(88-90)Gga>Cga	p.G30R	ANGPT2_ENST00000523120.1_Missense_Mutation_p.G30R|ANGPT2_ENST00000415216.1_Missense_Mutation_p.G30R|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.G30R			O15123	ANGP2_HUMAN	angiopoietin 2	30					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCTTCTTTCCTATGCTGTCC	0.493																																						dbGAP											0													113.0	91.0	99.0					8																	6420368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.88G>C	8.37:g.6420368C>G	ENSP00000314897:p.Gly30Arg		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G30R	ENST00000325203.5	37	c.88	CCDS5958.1	8	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679775	0.47886	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.36	5.36	0.76844	.	0.237289	0.42053	D	0.000765	T	0.75406	0.3845	N	0.20483	0.58	0.52099	D	0.999944	B;B;B;B	0.32188	0.359;0.188;0.196;0.103	B;B;B;B	0.35413	0.202;0.042;0.118;0.023	T	0.75852	-0.3171	10	0.49607	T	0.09	.	16.6062	0.84830	0.0:1.0:0.0:0.0	.	30;30;30;30	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	R	30	ENSP00000314897:G30R;ENSP00000400782:G30R;ENSP00000343517:G30R;ENSP00000428023:G30R	ENSP00000314897:G30R	G	-	1	0	ANGPT2	6407776	0.995000	0.38212	0.182000	0.23118	0.960000	0.62799	3.654000	0.54453	2.516000	0.84829	0.655000	0.94253	GGA	ANGPT2	-	NULL	ENSG00000091879		0.493	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANGPT2	HGNC	protein_coding	OTTHUMT00000206737.1	49	0.00	0	C	NM_001147		6420368	6420368	-1	no_errors	ENST00000325203	ensembl	human	known	69_37n	missense	95	15.93	18	SNP	0.980	G
CTCF	10664	genome.wustl.edu	37	16	67644796	67644799	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	GAGA	GAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr16:67644796_67644799delGAGA	ENST00000264010.4	+	3	505_508	c.61_64delGAGA	c.(61-66)gagagafs	p.ER21fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	21					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TAAAGGAAAGGAGAGAAAGACTTA	0.5																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.61_64delGAGA	16.37:g.67644796_67644799delGAGA	ENSP00000264010:p.Glu21fs		B5MC38|Q53XI7|Q59EL8	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K23fs	ENST00000264010.4	37	c.61_64	CCDS10841.1	16																																																																																			CTCF	-	NULL	ENSG00000102974		0.500	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	34	0.00	0	GAGA	NM_006565		67644796	67644799	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	frame_shift_del	10	62.96	17	DEL	1.000:1.000:1.000:1.000	-
DNM3	26052	genome.wustl.edu	37	1	171958092	171958092	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr1:171958092T>A	ENST00000355305.5	+	4	550	c.393T>A	c.(391-393)aaT>aaA	p.N131K	DNM3_ENST00000358155.4_Missense_Mutation_p.N131K|DNM3_ENST00000520906.1_Missense_Mutation_p.N131K|DNM3_ENST00000367733.2_Missense_Mutation_p.N131K|DNM3_ENST00000367731.1_Missense_Mutation_p.N131K			Q9UQ16	DYN3_HUMAN	dynamin 3	131	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTGTTAAATCTAACCCTTA	0.378																																						dbGAP											0													41.0	39.0	40.0					1																	171958092		1891	4118	6009	-	-	-	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.393T>A	1.37:g.171958092T>A	ENSP00000347457:p.Asn131Lys		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.N131K	ENST00000355305.5	37	c.393		1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701726	0.68501	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.96913	-3.8;-3.8;-3.8;-3.8;-3.8;-4.17	5.9	3.55	0.40652	.	0.086238	0.85682	D	0.000000	D	0.97911	0.9313	H	0.95151	3.63	0.53005	D	0.999969	D;D;D;D	0.89917	0.986;1.0;0.999;0.993	D;D;D;P	0.70016	0.936;0.967;0.967;0.9	D	0.97315	0.9940	10	0.87932	D	0	.	7.7653	0.28976	0.0:0.297:0.0:0.703	.	131;131;131;131	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	K	131;131;131;131;131;131;21	ENSP00000350876:N131K;ENSP00000356707:N131K;ENSP00000347457:N131K;ENSP00000356705:N131K;ENSP00000429701:N131K;ENSP00000429416:N21K	ENSP00000347457:N131K	N	+	3	2	DNM3	170224715	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.776000	0.26704	0.469000	0.27268	0.528000	0.53228	AAT	DNM3	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	ENSG00000197959		0.378	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	75	0.00	0	T	NM_015569		171958092	171958092	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	1.000	A
GGT3P	2679	genome.wustl.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818	byFrequency	TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGCCAGCCGCGGCAGGGTCAG	0.637													g|||	253	0.0505192	0.0068	0.0908	5008	,	,		47818	0.0079		0.1213	False		,,,				2504	0.0521					dbGAP											0																																										-	-	-			0					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769203G>A				RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-	ENSG00000197421		0.637	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	26	0.00	0	G	NR_003267		18769203	18769203	-1	no_errors	ENST00000412448	ensembl	human	known	69_37n	rna	99	16.10	19	SNP	0.149	A
LIMA1	51474	genome.wustl.edu	37	12	50616076	50616076	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr12:50616076G>T	ENST00000341247.4	-	4	507	c.358C>A	c.(358-360)Caa>Aaa	p.Q120K	LIMA1_ENST00000394943.3_Missense_Mutation_p.Q120K|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	120					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGTTCTTCTTGGTCAGCTTTG	0.527																																						dbGAP											0													216.0	156.0	176.0					12																	50616076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.358C>A	12.37:g.50616076G>T	ENSP00000340184:p.Gln120Lys		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q120K	ENST00000341247.4	37	c.358	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	3.800	-0.041968	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.83914	-1.78;-1.04	6.17	6.17	0.99709	.	2.169190	0.01581	N	0.021107	T	0.81945	0.4930	L	0.40543	1.245	0.41329	D	0.987227	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.003	T	0.41288	-0.9517	10	0.25106	T	0.35	.	16.0661	0.80878	0.0:0.0:0.8039:0.1961	.	129;120	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	K	120;120;39;120	ENSP00000378400:Q120K;ENSP00000340184:Q120K	ENSP00000340184:Q120K	Q	-	1	0	LIMA1	48902343	0.590000	0.26815	0.012000	0.15200	0.025000	0.11179	4.769000	0.62300	2.941000	0.99782	0.655000	0.94253	CAA	LIMA1	-	NULL	ENSG00000050405		0.527	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	127	0.00	0	G	NM_016357		50616076	50616076	-1	no_errors	ENST00000394943	ensembl	human	known	69_37n	missense	80	56.28	103	SNP	0.006	T
NNT	23530	genome.wustl.edu	37	5	43616033	43616033	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr5:43616033T>G	ENST00000264663.5	+	4	686	c.465T>G	c.(463-465)atT>atG	p.I155M	NNT_ENST00000344920.4_Missense_Mutation_p.I155M|NNT_ENST00000512996.2_Missense_Mutation_p.I24M	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	155					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTAGTTTTATTTACCCAGCCC	0.418																																						dbGAP											0													83.0	86.0	85.0					5																	43616033		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.465T>G	5.37:g.43616033T>G	ENSP00000264663:p.Ile155Met		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.I155M	ENST00000264663.5	37	c.465	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085513	0.55861	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996;ENST00000515208	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.69	1.92	0.25849	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.46819	1.47	0.46416	D	0.999039	B	0.21309	0.054	B	0.35413	0.202	T	0.66460	-0.5918	10	0.66056	D	0.02	-20.864	6.9663	0.24625	0.0:0.41:0.0:0.59	.	155	Q13423	NNTM_HUMAN	M	155;155;155;155;24;24	ENSP00000427670:I155M;ENSP00000421886:I155M;ENSP00000264663:I155M;ENSP00000343873:I155M;ENSP00000426343:I24M;ENSP00000425542:I24M	ENSP00000264663:I155M	I	+	3	3	NNT	43651790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.575000	0.46025	0.403000	0.25479	-0.250000	0.11733	ATT	NNT	-	pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	ENSG00000112992		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	158	0.00	0	T	NM_182977		43616033	43616033	+1	no_errors	ENST00000264663	ensembl	human	known	69_37n	missense	126	48.39	120	SNP	1.000	G
OR8D1	283159	genome.wustl.edu	37	11	124179975	124179976	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr11:124179975_124179976insAT	ENST00000357821.2	-	1	757_758	c.687_688insAT	c.(685-690)cgctccfs	p.S230fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCCTCTGAGGAGCGGATGTGAA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.687_688insAT	11.37:g.124179975_124179976insAT	ENSP00000350474:p.Ser230fs		B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S229fs	ENST00000357821.2	37	c.688_687	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196341		0.500	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	47	0.00	0	-	NM_001002917		124179975	124179976	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	frame_shift_ins	25	16.67	5	INS	0.020:0.000	AT
OSBPL8	114882	genome.wustl.edu	37	12	76786476	76786476	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr12:76786476G>A	ENST00000261183.3	-	10	1293	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.R230C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.R230C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	272					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATCATTGTACGTTTAAGAAGA	0.383																																						dbGAP											0													207.0	166.0	180.0					12																	76786476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.814C>T	12.37:g.76786476G>A	ENSP00000261183:p.Arg272Cys		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R272C	ENST00000261183.3	37	c.814	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406437	0.83230	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.52526	1.34;1.29;1.34;0.66;0.71	5.47	5.47	0.80525	.	0.097241	0.64402	D	0.000001	T	0.63663	0.2530	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.917	T	0.63782	-0.6559	10	0.62326	D	0.03	-10.6079	19.7014	0.96054	0.0:0.0:1.0:0.0	.	247;272	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	230;272;257;230;272;272;247	ENSP00000376939:R230C;ENSP00000261183:R272C;ENSP00000376940:R230C;ENSP00000450238:R272C;ENSP00000447893:R247C	ENSP00000261183:R272C	R	-	1	0	OSBPL8	75310607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.819000	0.69243	2.729000	0.93468	0.655000	0.94253	CGT	OSBPL8	-	NULL	ENSG00000091039		0.383	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	160	0.62	1	G	NM_020841		76786476	76786476	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	203	27.76	78	SNP	1.000	A
PRKCQ	5588	genome.wustl.edu	37	10	6470185	6470185	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr10:6470185T>C	ENST00000263125.5	-	18	2204	c.2105A>G	c.(2104-2106)gAg>gGg	p.E702G	PRKCQ_ENST00000397176.2_Missense_Mutation_p.E639G|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E577G	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	702	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TATCAGCCGCTCCATCCCGGG	0.498																																					Ovarian(50;572 1126 10530 25349 30594)	dbGAP											0													114.0	118.0	117.0					10																	6470185		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2105A>G	10.37:g.6470185T>C	ENSP00000263125:p.Glu702Gly		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E702G	ENST00000263125.5	37	c.2105	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.43|11.43	1.636246|1.636246	0.29068|0.29068	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.69561|.	-0.41;-0.37;-0.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	AGC-kinase, C-terminal (1);|.	0.175145|.	0.49916|.	D|.	0.000123|.	T|T	0.71221|0.71221	0.3314|0.3314	M|M	0.62088|0.62088	1.915|1.915	0.40489|0.40489	D|D	0.980523|0.980523	P;P;D;B|.	0.65815|.	0.494;0.675;0.995;0.379|.	B;B;D;B|.	0.64410|.	0.393;0.391;0.925;0.066|.	T|T	0.71567|0.71567	-0.4554|-0.4554	10|5	0.59425|.	D|.	0.04|.	.|.	15.402|15.402	0.74849|0.74849	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	577;474;639;702|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	G|G	702;639;577|475	ENSP00000263125:E702G;ENSP00000380361:E639G;ENSP00000441752:E577G|.	ENSP00000263125:E702G|.	E|S	-|-	2|1	0|0	PRKCQ|PRKCQ	6510191|6510191	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.038000|0.038000	0.13279|0.13279	5.665000|5.665000	0.68052|0.68052	2.114000|2.114000	0.64651|0.64651	0.459000|0.459000	0.35465|0.35465	GAG|AGC	PRKCQ	-	pirsf_Prot_kin_PKC_delta	ENSG00000065675		0.498	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	89	0.00	0	T	NM_006257		6470185	6470185	-1	no_errors	ENST00000263125	ensembl	human	known	69_37n	missense	109	15.38	20	SNP	0.980	C
PTPN14	5784	genome.wustl.edu	37	1	214543010	214543010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr1:214543010G>A	ENST00000366956.5	-	17	3255	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1021	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.R1021*(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCCAGTATCGGTGGCTTTTG	0.443																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											203.0	190.0	194.0					1																	214543010		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3061C>T	1.37:g.214543010G>A	ENSP00000355923:p.Arg1021*		Q5VSI0	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.R1021*	ENST00000366956.5	37	c.3061	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.338041	0.99385	.	.	ENSG00000152104	ENST00000366956	.	.	.	5.51	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5368	0.76011	0.0:0.0:0.8608:0.1392	.	.	.	.	X	1021	.	ENSP00000355923:R1021X	R	-	1	2	PTPN14	212609633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	1.263000	0.44181	0.650000	0.86243	CGA	PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.443	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	87	0.00	0	G	NM_005401		214543010	214543010	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	nonsense	200	18.37	45	SNP	1.000	A
RFPL4A	342931	genome.wustl.edu	37	19	56274382	56274382	+	Silent	SNP	G	G	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr19:56274382G>T	ENST00000434937.2	+	3	876	c.705G>T	c.(703-705)ggG>ggT	p.G235G		NM_001145014.1	NP_001138486.1	A6NLU0	RFPLA_HUMAN	ret finger protein-like 4A	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TTAGTGATGGGTGCCATATCT	0.473																																						dbGAP											0													353.0	279.0	301.0					19																	56274382		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46201.1	19q13.42	2013-02-22	2007-01-19	2007-01-19	ENSG00000223638	ENSG00000223638		"""RING-type (C3HC4) zinc fingers"""	16449	protein-coding gene	gene with protein product		612601	"""ret finger protein-like 4"""	RFPL4		11850190	Standard	NM_001145014		Approved	RNF210	uc010yge.2	A6NLU0	OTTHUMG00000165449	ENST00000434937.2:c.705G>T	19.37:g.56274382G>T				Silent	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.G235	ENST00000434937.2	37	c.705	CCDS46201.1	19																																																																																			RFPL4A	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000223638		0.473	RFPL4A-001	NOVEL	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RFPL4A	HGNC	protein_coding	OTTHUMT00000384184.1	543	0.00	0	G	XM_292796		56274382	56274382	+1	no_errors	ENST00000434937	ensembl	human	novel	69_37n	silent	788	10.96	97	SNP	0.001	T
TRHDE	29953	genome.wustl.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																						dbGAP											0													74.0	80.0	78.0					12																	72956810		2203	4292	6495	-	-	-	SO:0001587	stop_gained	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*		A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q633*	ENST00000261180.4	37	c.1897	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG	TRHDE	-	NULL	ENSG00000072657		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	105	0.00	0	C	NM_013381		72956810	72956810	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	nonsense	25	54.55	30	SNP	0.925	T
TRPC4	7223	genome.wustl.edu	37	13	38357162	38357162	+	Silent	SNP	A	A	G			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr13:38357162A>G	ENST00000379705.3	-	2	1166	c.309T>C	c.(307-309)gcT>gcC	p.A103A	TRPC4_ENST00000338947.5_Silent_p.A103A|TRPC4_ENST00000447043.1_Silent_p.A103A|TRPC4_ENST00000379679.1_Silent_p.A103A|TRPC4_ENST00000379681.3_Silent_p.A103A|TRPC4_ENST00000355779.2_Silent_p.A103A|TRPC4_ENST00000379673.2_Silent_p.A103A|TRPC4_ENST00000358477.2_Silent_p.A103A|TRPC4_ENST00000426868.2_Silent_p.A103A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	103	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTTCTGATAGCATGTAATA	0.368																																						dbGAP											0													66.0	66.0	66.0					13																	38357162		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.309T>C	13.37:g.38357162A>G			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A103	ENST00000379705.3	37	c.309	CCDS9365.1	13																																																																																			TRPC4	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000133107		0.368	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	68	0.00	0	A	NM_003306		38357162	38357162	-1	no_errors	ENST00000379681	ensembl	human	known	69_37n	silent	20	39.39	13	SNP	0.418	G
USP32	84669	genome.wustl.edu	37	17	58260550	58260550	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr17:58260550C>T	ENST00000300896.4	-	31	4293	c.4099G>A	c.(4099-4101)Gct>Act	p.A1367T	USP32_ENST00000592339.1_Missense_Mutation_p.A1037T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1367	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATGATGTTAGCGCTGAGTGAG	0.547																																						dbGAP											0													67.0	63.0	65.0					17																	58260550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4099G>A	17.37:g.58260550C>T	ENSP00000300896:p.Ala1367Thr		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.A1367T	ENST00000300896.4	37	c.4099	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226562	0.39300	.	.	ENSG00000170832	ENST00000300896	T	0.44482	0.92	5.49	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.370050	0.30869	N	0.008717	T	0.21881	0.0527	N	0.12182	0.205	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.08827	-1.0703	10	0.16420	T	0.52	.	9.4562	0.38756	0.0:0.8507:0.0:0.1493	.	1367	Q8NFA0	UBP32_HUMAN	T	1367	ENSP00000300896:A1367T	ENSP00000300896:A1367T	A	-	1	0	USP32	55615332	0.998000	0.40836	0.872000	0.34217	0.470000	0.32858	2.240000	0.43088	2.741000	0.93983	0.557000	0.71058	GCT	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.547	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	51	0.00	0	C	NM_032582		58260550	58260550	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	38	41.54	27	SNP	0.787	T
ZNF717	100131827	genome.wustl.edu	37	3	75787068	75787069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A12B-01A-11D-A10M-09	TCGA-AO-A12B-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	865ebd77-7b7d-4a27-b945-df5ec8d1f86a	ce0e2cbf-a483-4093-b46a-32d1f14ea2f9	g.chr3:75787068_75787069insT	ENST00000478296.1	-	4	1831_1832	c.1555_1556insA	c.(1555-1557)ggafs	p.G519fs	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.G562fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.G569fs|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						AAAGGATTTTCCACATTCATTA	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1555_1556insA	3.37:g.75787068_75787069insT	ENSP00000419377:p.Gly519fs			Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G569fs	ENST00000478296.1	37	c.1706_1705		3																																																																																			ZNF717	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000227124		0.366	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	42	0.00	0	-	NM_001128223		75787068	75787069	-1	no_errors	ENST00000422325	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.996:0.998	T
