#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
CBFB	865	genome.wustl.edu	37	16	67070577	67070578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr16:67070577_67070578insT	ENST00000290858.6	+	3	462_463	c.201_202insT	c.(202-204)tttfs	p.F68fs	CBFB_ENST00000412916.2_Frame_Shift_Ins_p.F68fs|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	68					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGTCTCTCCAGTTTTTTCCGGC	0.446			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.207dupT	16.37:g.67070583_67070583dupT	ENSP00000290858:p.Phe68fs		A8K347|Q13124|Q9HCT2	Frame_Shift_Ins	INS	pfam_CBF_beta,superfamily_CBF_beta	p.P69fs	ENST00000290858.6	37	c.201_202	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.446	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	61	0.00	0	-	NM_001755		67070577	67070578	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_ins	20	37.50	12	INS	1.000:1.000	T
CFAP45	25790	genome.wustl.edu	37	1	159857798	159857798	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr1:159857798C>T	ENST00000368099.4	-	5	485	c.421G>A	c.(421-423)Gca>Aca	p.A141T	CCDC19_ENST00000426543.2_Missense_Mutation_p.A56T|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTCATCACTGCATCCTAAGGG	0.532																																						dbGAP											0													180.0	148.0	159.0					1																	159857798		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000368099.4:c.421G>A	1.37:g.159857798C>T	ENSP00000357079:p.Ala141Thr			Missense_Mutation	SNP	NULL	p.A141T	ENST00000368099.4	37	c.421	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324075	0.60634	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.52057	0.68;0.72	4.91	4.0	0.46444	.	0.177285	0.47852	N	0.000215	T	0.30198	0.0757	M	0.76328	2.33	0.49582	D	0.999806	B;B	0.16396	0.017;0.017	B;B	0.17098	0.017;0.017	T	0.16600	-1.0397	9	.	.	.	-4.3992	11.0759	0.48032	0.0:0.9088:0.0:0.0912	.	141;141	A8K884;Q9UL16	.;CCD19_HUMAN	T	141;56	ENSP00000357079:A141T;ENSP00000403044:A56T	.	A	-	1	0	CCDC19	158124422	0.998000	0.40836	0.989000	0.46669	0.978000	0.69477	4.551000	0.60740	1.067000	0.40740	0.561000	0.74099	GCA	CCDC19	-	NULL	ENSG00000213085		0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	72	0.00	0	C			159857798	159857798	-1	no_errors	ENST00000368099	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.998	T
CXCR3	2833	genome.wustl.edu	37	X	70836775	70836775	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chrX:70836775C>T	ENST00000373693.3	-	2	614	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	CXCR3_ENST00000373691.4_Missense_Mutation_p.A230T	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	183					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TCTGGGAGGGCGAAAAGCAGG	0.662																																						dbGAP											0													41.0	39.0	40.0					X																	70836775		2203	4296	6499	-	-	-	SO:0001583	missense	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.547G>A	X.37:g.70836775C>T	ENSP00000362797:p.Ala183Thr		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.A230T	ENST00000373693.3	37	c.688	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835284	0.32421	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.39056	1.1;1.1	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.211946	0.40640	N	0.001049	T	0.26048	0.0635	L	0.28740	0.885	0.32200	N	0.577942	P;P	0.51653	0.947;0.774	B;B	0.40636	0.335;0.203	T	0.29305	-1.0016	10	0.29301	T	0.29	.	5.4821	0.16729	0.2005:0.6986:0.0:0.1008	.	230;183	P49682-2;P49682	.;CXCR3_HUMAN	T	230;183;183	ENSP00000362795:A230T;ENSP00000362797:A183T	ENSP00000362791:A183T	A	-	1	0	CXCR3	70753500	0.033000	0.19621	0.939000	0.37840	0.003000	0.03518	0.362000	0.20284	1.132000	0.42129	-0.351000	0.07748	GCC	CXCR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt	ENSG00000186810		0.662	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	40	0.00	0	C			70836775	70836775	-1	no_errors	ENST00000373691	ensembl	human	known	69_37n	missense	10	45.45	10	SNP	0.930	T
DMRT3	58524	genome.wustl.edu	37	9	990838	990838	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr9:990838G>A	ENST00000190165.2	+	2	1290	c.1252G>A	c.(1252-1254)Gtc>Atc	p.V418I		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	418					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V418I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTCTACCAGCGTCTTCAGAAG	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											85.0	66.0	72.0					9																	990838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1252G>A	9.37:g.990838G>A	ENSP00000190165:p.Val418Ile		Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.V418I	ENST00000190165.2	37	c.1252	CCDS6443.1	9	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209646	0.39003	.	.	ENSG00000064218	ENST00000190165	T	0.30714	1.52	5.22	2.37	0.29283	.	0.145948	0.45361	N	0.000365	T	0.17365	0.0417	L	0.32530	0.975	0.40341	D	0.979033	P	0.36144	0.539	B	0.19148	0.024	T	0.05241	-1.0897	10	0.52906	T	0.07	-20.7237	8.9089	0.35541	0.1365:0.1224:0.7411:0.0	.	418	Q9NQL9	DMRT3_HUMAN	I	418	ENSP00000190165:V418I	ENSP00000190165:V418I	V	+	1	0	DMRT3	980838	0.042000	0.20092	0.602000	0.28890	0.912000	0.54170	1.865000	0.39479	0.208000	0.20626	-0.126000	0.14955	GTC	DMRT3	-	NULL	ENSG00000064218		0.542	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	27	0.00	0	G	NM_021240		990838	990838	+1	no_errors	ENST00000190165	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	0.998	A
FAM81B	153643	genome.wustl.edu	37	5	94772583	94772583	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr5:94772583G>A	ENST00000283357.5	+	7	912	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	289						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGGGATTATCGCCACGAAATG	0.403																																						dbGAP											0													76.0	71.0	73.0					5																	94772583		1865	4114	5979	-	-	-	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.866G>A	5.37:g.94772583G>A	ENSP00000283357:p.Arg289His			Missense_Mutation	SNP	NULL	p.R289H	ENST00000283357.5	37	c.866	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329151	0.10956	.	.	ENSG00000153347	ENST00000283357	T	0.17054	2.3	5.47	-3.0	0.05480	.	0.462633	0.21494	N	0.073627	T	0.10294	0.0252	L	0.27053	0.805	0.20873	N	0.99984	B	0.10296	0.003	B	0.06405	0.002	T	0.24261	-1.0165	10	0.30854	T	0.27	0.6284	12.6818	0.56926	0.7983:0.0:0.2017:0.0	.	289	Q96LP2	FA81B_HUMAN	H	289	ENSP00000283357:R289H	ENSP00000283357:R289H	R	+	2	0	FAM81B	94798339	0.854000	0.29725	0.080000	0.20451	0.845000	0.48019	-0.047000	0.11963	-0.474000	0.06862	-0.143000	0.13931	CGC	FAM81B	-	NULL	ENSG00000153347		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	32	0.00	0	G	NM_152548		94772583	94772583	+1	no_errors	ENST00000283357	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.914	A
GTF3C3	9330	genome.wustl.edu	37	2	197662520	197662520	+	Splice_Site	SNP	C	C	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr2:197662520C>T	ENST00000263956.3	-	2	304		c.e2+1		GTF3C3_ENST00000409364.3_Splice_Site	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTAACATACCTTCATTGAC	0.348																																						dbGAP											0													134.0	128.0	130.0					2																	197662520		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.214+1G>A	2.37:g.197662520C>T			Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Splice_Site	SNP	-	e2+1	ENST00000263956.3	37	c.214+1	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705658	0.68615	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0793	0.80989	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF3C3	197370765	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.148000	0.58085	2.820000	0.97059	0.650000	0.86243	.	GTF3C3	-	-	ENSG00000119041		0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	72	0.00	0	C		Intron	197662520	197662520	-1	no_errors	ENST00000263956	ensembl	human	known	69_37n	splice_site	37	46.38	32	SNP	1.000	T
HLA-B	3106	genome.wustl.edu	37	6	31324830	31324830	+	Intron	SNP	G	G	A	rs9266197	byFrequency	TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr6:31324830G>A	ENST00000412585.2	-	1	102					NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCCTCCCGGCAGAGGCCAT	0.756									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3968	0.792332	0.7905	0.732	5008	,	,		7740	0.8502		0.7147	False		,,,				2504	0.8579					dbGAP											0													6.0	7.0	7.0					6																	31324830		2066	4021	6087	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.73+32C>T	6.37:g.31324830G>A			Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	p.A4V	ENST00000412585.2	37	c.11	CCDS34394.1	6	1566	0.717032967032967	343	0.6971544715447154	243	0.6712707182320442	470	0.8216783216783217	510	0.6728232189973615	N	8.919	0.960632	0.18583	.	.	ENSG00000234745	ENST00000434333	T	0.00700	5.82	2.57	-0.25	0.13007	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.58432	P	9.99999999995449E-6	.	.	.	.	.	.	T	0.34104	-0.9842	4	.	.	.	.	5.221	0.15368	0.437:0.0:0.563:0.0	rs9266197;rs17879987	.	.	.	V	4	ENSP00000405931:A4V	.	A	-	2	0	HLA-B	31432809	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.544000	0.06077	-0.085000	0.12573	-0.387000	0.06579	GCC	HLA-B	-	NULL	ENSG00000234745		0.756	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	10	0.00	0	G	NM_005514		31324830	31324830	-1	no_stop_codon	ENST00000434333	ensembl	human	putative	69_37n	missense	2	75.00	6	SNP	0.020	A
HNRNPDL	9987	genome.wustl.edu	37	4	83350516	83350516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr4:83350516G>A	ENST00000295470.5	-	1	503	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q110*|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	110					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GGGGGGTGCTGGCGCGCAGTC	0.617																																						dbGAP											0													54.0	66.0	62.0					4																	83350516		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.328C>T	4.37:g.83350516G>A	ENSP00000295470:p.Gln110*		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q110*	ENST00000295470.5	37	c.328	CCDS3593.1	4	.	.	.	.	.	.	.	.	.	.	g	41	8.821423	0.98966	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	.	.	.	4.74	4.74	0.60224	.	0.173428	0.27886	N	0.017442	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	8.7865	0.34823	0.1009:0.0:0.8991:0.0	.	.	.	.	X	110	.	ENSP00000295470:Q110X	Q	-	1	0	HNRPDL	83569540	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.208000	0.58486	2.469000	0.83416	0.305000	0.20034	CAG	HNRPDL	-	NULL	ENSG00000152795		0.617	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRPDL	HGNC	protein_coding	OTTHUMT00000252644.1	33	0.00	0	G	NM_005463		83350516	83350516	-1	no_errors	ENST00000295470	ensembl	human	known	69_37n	nonsense	15	28.57	6	SNP	0.989	A
IVNS1ABP	10625	genome.wustl.edu	37	1	185276771	185276771	+	Silent	SNP	A	A	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr1:185276771A>T	ENST00000367498.3	-	6	1003	c.381T>A	c.(379-381)tcT>tcA	p.S127S	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	127					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CATCCATTCTAGACAGTAAAT	0.348																																						dbGAP											0													56.0	56.0	56.0					1																	185276771		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.381T>A	1.37:g.185276771A>T			A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S127	ENST00000367498.3	37	c.381	CCDS1368.1	1																																																																																			IVNS1ABP	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000116679		0.348	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	40	0.00	0	A	NM_006469		185276771	185276771	-1	no_errors	ENST00000367498	ensembl	human	known	69_37n	silent	24	48.94	23	SNP	0.853	T
MGAT4A	11320	genome.wustl.edu	37	2	99256673	99256676	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	TCTG	TCTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr2:99256673_99256676delTCTG	ENST00000264968.3	-	10	1399_1402	c.1036_1039delCAGA	c.(1036-1041)cagaaafs	p.QK346fs	MGAT4A_ENST00000393487.1_Frame_Shift_Del_p.QK346fs|MGAT4A_ENST00000414521.2_Frame_Shift_Del_p.QK218fs|MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.QK346fs			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	346					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGATTTGCTTTCTGTCTATCACAA	0.368																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1036_1039delCAGA	2.37:g.99256673_99256676delTCTG	ENSP00000264968:p.Gln346fs		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Frame_Shift_Del	DEL	pfam_Glyco_transf_54	p.Q346fs	ENST00000264968.3	37	c.1039_1036	CCDS2036.1	2																																																																																			MGAT4A	-	pfam_Glyco_transf_54	ENSG00000071073		0.368	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	85	0.00	0	TCTG	NM_012214		99256673	99256676	-1	no_errors	ENST00000264968	ensembl	human	known	69_37n	frame_shift_del	37	28.30	15	DEL	1.000:1.000:1.000:1.000	-
MYO18B	84700	genome.wustl.edu	37	22	26165033	26165033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr22:26165033delA	ENST00000407587.2	+	4	1319	c.1150delA	c.(1150-1152)aagfs	p.K384fs	MYO18B_ENST00000536101.1_Frame_Shift_Del_p.K384fs|MYO18B_ENST00000335473.7_Frame_Shift_Del_p.K384fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	384						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTGGGAAGGCAGGTGA	0.582																																						dbGAP											0													36.0	41.0	39.0					22																	26165033		2093	4218	6311	-	-	-	SO:0001589	frameshift_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1150delA	22.37:g.26165033delA	ENSP00000386096:p.Lys384fs		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K384fs	ENST00000407587.2	37	c.1150		22																																																																																			MYO18B	-	NULL	ENSG00000133454		0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	36	0.00	0	A	NM_032608		26165033	26165033	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.000	-
POLD3	10714	genome.wustl.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	A	-	rs375954131		TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr11:74336609delA	ENST00000263681.2	+	8	1019	c.890delA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCAGAAGGAAAAAAAAAGG	0.458																																						dbGAP											0													27.0	29.0	29.0					11																	74336609		2198	4291	6489	-	-	-	SO:0001589	frameshift_variant	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.890delA	11.37:g.74336609delA	ENSP00000263681:p.Glu297fs		B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Del	DEL	pfam_DNA_polymerase_subunit_Cdc27	p.R300fs	ENST00000263681.2	37	c.890	CCDS8233.1	11																																																																																			POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.458	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	30	0.00	0	A	NM_006591		74336609	74336609	+1	no_errors	ENST00000263681	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.998	-
PRAMEF4	400735	genome.wustl.edu	37	1	12939485	12939485	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr1:12939485C>A	ENST00000235349.5	-	4	1387	c.1317G>T	c.(1315-1317)gaG>gaT	p.E439D		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	439					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCATCAGCTCAGCCCTAA	0.502																																						dbGAP											0													38.0	43.0	41.0					1																	12939485		1438	2520	3958	-	-	-	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1317G>T	1.37:g.12939485C>A	ENSP00000235349:p.Glu439Asp		Q5LJB5	Missense_Mutation	SNP	NULL	p.E439D	ENST00000235349.5	37	c.1317	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	C	6.970	0.548962	0.13312	.	.	ENSG00000243073	ENST00000235349	T	0.13901	2.55	1.48	-0.545	0.11843	.	0.465937	0.20655	N	0.088127	T	0.14013	0.0339	M	0.76838	2.35	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.20240	-1.0281	10	0.46703	T	0.11	.	4.0004	0.09577	0.0:0.5635:0.0:0.4365	.	439	O60810	PRAM4_HUMAN	D	439	ENSP00000235349:E439D	ENSP00000235349:E439D	E	-	3	2	PRAMEF4	12862072	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.755000	0.04782	-0.166000	0.10890	0.400000	0.26472	GAG	PRAMEF4	-	NULL	ENSG00000243073		0.502	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	98	0.00	0	C	NM_001009611		12939485	12939485	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	0.001	A
SEMA4D	10507	genome.wustl.edu	37	9	92003919	92003919	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr9:92003919G>A	ENST00000450295.1	-	10	1594	c.818C>T	c.(817-819)tCc>tTc	p.S273F	SEMA4D_ENST00000339861.4_Missense_Mutation_p.S273F|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S273F|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S273F|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S273F|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S273F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S273F|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S273F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTTCAGGAAGGAGGTCCATTT	0.607																																						dbGAP											0													153.0	160.0	157.0					9																	92003919		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.818C>T	9.37:g.92003919G>A	ENSP00000416523:p.Ser273Phe		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.S273F	ENST00000450295.1	37	c.818	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904139	0.92035	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.049504	0.85682	D	0.000000	T	0.78910	0.4358	H	0.95437	3.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85751	0.1343	10	0.87932	D	0	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	273;273	Q92854-2;Q92854	.;SEM4D_HUMAN	F	273	ENSP00000344923:S273F;ENSP00000391733:S273F;ENSP00000411981:S273F;ENSP00000343418:S273F;ENSP00000416523:S273F;ENSP00000405102:S273F;ENSP00000348822:S273F;ENSP00000388768:S273F	ENSP00000344923:S273F	S	-	2	0	SEMA4D	91193739	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.255000	0.95524	2.564000	0.86499	0.561000	0.74099	TCC	SEMA4D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000187764		0.607	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	44	0.00	0	G	NM_006378		92003919	92003919	-1	no_errors	ENST00000356444	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	A
SRFBP1	153443	genome.wustl.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs			Frame_Shift_Ins	INS	pfam_Bud-site_select_BUD22	p.N235fs	ENST00000339397.4	37	c.699_700	CCDS43354.1	5																																																																																			SRFBP1	-	NULL	ENSG00000151304		0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1	32	0.00	0	-	NM_152546		121356129	121356130	+1	no_errors	ENST00000339397	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	0.000:0.000	A
TMBIM4	51643	genome.wustl.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																						dbGAP											0										30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	-	-	-	SO:0001589	frameshift_variant	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs		Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	pfam_Bax_inhibitor_1-related	p.Y174fs	ENST00000358230.3	37	c.520	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	34	0.00	0	A	NM_016056		66531937	66531937	-1	no_errors	ENST00000358230	ensembl	human	known	69_37n	frame_shift_del	19	17.39	4	DEL	0.028	-
TP53	7157	genome.wustl.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	GRCh37	CM035576	TP53	M							119.0	95.0	103.0					17																	7577580		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y234C	ENST00000269305.4	37	c.701	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	56	0.00	0	T	NM_000546		7577580	7577580	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12387893	12387893	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr1:12387893G>C	ENST00000358136.3	+	36	8309	c.8179G>C	c.(8179-8181)Gct>Cct	p.A2727P	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2727P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A2727S(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTCCTCTCGCTGAACTCAC	0.448																																						dbGAP											1	Substitution - Missense(1)	lung(1)											163.0	143.0	150.0					1																	12387893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8179G>C	1.37:g.12387893G>C	ENSP00000350854:p.Ala2727Pro			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2727P	ENST00000358136.3	37	c.8179	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590093	0.86851	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.46451	0.87;0.87	5.51	5.51	0.81932	.	0.102264	0.64402	D	0.000003	T	0.65709	0.2717	M	0.67953	2.075	0.80722	D	1	D;P;P	0.89917	1.0;0.828;0.736	D;P;B	0.91635	0.999;0.504;0.401	T	0.67078	-0.5761	10	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	634;2727;2727	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	P	2727	ENSP00000348666:A2727P;ENSP00000350854:A2727P	ENSP00000348666:A2727P	A	+	1	0	VPS13D	12310480	1.000000	0.71417	0.480000	0.27341	0.959000	0.62525	9.420000	0.97426	2.750000	0.94351	0.655000	0.94253	GCT	VPS13D	-	NULL	ENSG00000048707		0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	83	0.00	0	G	NM_015378		12387893	12387893	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	C
WDFY4	57705	genome.wustl.edu	37	10	50013339	50013339	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr10:50013339G>C	ENST00000325239.5	+	25	4546	c.4519G>C	c.(4519-4521)Gca>Cca	p.A1507P	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1507						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGCCCACCAGGCACAGCTTAT	0.512																																						dbGAP											0													99.0	88.0	92.0					10																	50013339		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4519G>C	10.37:g.50013339G>C	ENSP00000320563:p.Ala1507Pro		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1507P	ENST00000325239.5	37	c.4519	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.698|9.698	1.153606|1.153606	0.21371|0.21371	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239|ENST00000312002;ENST00000374161	T|.	0.56611|.	0.45|.	5.01|5.01	3.16|3.16	0.36331|0.36331	.|.	0.454177|.	0.22008|.	N|.	0.065906|.	T|T	0.54481|0.54481	0.1861|0.1861	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;P|.	0.53151|.	0.958;0.855|.	P;B|.	0.51229|.	0.663;0.271|.	T|T	0.45440|0.45440	-0.9261|-0.9261	9|5	.|.	.|.	.|.	.|.	9.1385|9.1385	0.36888|0.36888	0.17:0.0:0.83:0.0|0.17:0.0:0.83:0.0	.|.	35;1507|.	F2Z372;Q6ZS81|.	.;WDFY4_HUMAN|.	P|A	1507|597;53	ENSP00000320563:A1507P|.	.|.	A|G	+|+	1|2	0|0	WDFY4|WDFY4	49683345|49683345	0.998000|0.998000	0.40836|0.40836	0.937000|0.937000	0.37676|0.37676	0.077000|0.077000	0.17291|0.17291	1.513000|1.513000	0.35823|0.35823	0.631000|0.631000	0.30412|0.30412	-0.136000|-0.136000	0.14681|0.14681	GCA|GGC	WDFY4	-	NULL	ENSG00000128815		0.512	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		49	0.00	0	G	XM_033379		50013339	50013339	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.994	C
WNK1	65125	genome.wustl.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)	dbGAP											1	Unknown(1)	skin(1)											98.0	96.0	97.0					12																	970297		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K583fs	ENST00000315939.6	37	c.1739	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	23	0.00	0	A	NM_018979		970297	970297	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
ZC3H14	79882	genome.wustl.edu	37	14	89039040	89039040	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr14:89039040G>A	ENST00000251038.5	+	6	775	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	ZC3H14_ENST00000359301.3_Missense_Mutation_p.E150K|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E184K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E184K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E184K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E184K|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E29K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E150K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	184						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCTCATTGACGAAGACCTCAA	0.433																																						dbGAP											0													164.0	164.0	164.0					14																	89039040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.550G>A	14.37:g.89039040G>A	ENSP00000251038:p.Glu184Lys		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.E184K	ENST00000251038.5	37	c.550	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848215	0.71603	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.83	5.83	0.93111	.	0.404340	0.29321	N	0.012491	T	0.76912	0.4054	L	0.54323	1.7	0.41166	D	0.986137	B;D;B;B;D;B	0.89917	0.03;0.999;0.061;0.021;1.0;0.021	B;D;B;B;D;B	0.80764	0.007;0.991;0.017;0.009;0.994;0.009	T	0.74583	-0.3617	9	0.44086	T	0.13	-15.3149	20.106	0.97895	0.0:0.0:1.0:0.0	.	184;165;184;184;184;184	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	K	184;184;184;150;184;165;184;171;29;150;184;184;150	.	ENSP00000251038:E184K	E	+	1	0	ZC3H14	88108793	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.859000	0.62954	2.758000	0.94735	0.655000	0.94253	GAA	ZC3H14	-	NULL	ENSG00000100722		0.433	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	57	0.00	0	G	NM_024824		89039040	89039040	+1	no_errors	ENST00000251038	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	A
ZDHHC6	64429	genome.wustl.edu	37	10	114192251	114192251	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24P-01A-11D-A167-09	TCGA-AR-A24P-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dbdcf82a-3d37-4cfb-a70b-9b69ada0e732	dc513750-0ca0-47ab-b42f-2054bb6f944f	g.chr10:114192251C>T	ENST00000369405.3	-	9	1397	c.974G>A	c.(973-975)aGt>aAt	p.S325N	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.S321N|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	325					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCAGGCACCACTATAATCTTC	0.388																																						dbGAP											0													103.0	100.0	101.0					10																	114192251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.974G>A	10.37:g.114192251C>T	ENSP00000358413:p.Ser325Asn		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.S325N	ENST00000369405.3	37	c.974	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007333	0.35415	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.05996	3.36;3.36	5.87	2.95	0.34219	Src homology-3 domain (1);Variant SH3 (1);	0.080155	0.85682	N	0.000000	T	0.03564	0.0102	N	0.16166	0.38	0.36279	D	0.855634	B;B	0.06786	0.0;0.001	B;B	0.14023	0.003;0.01	T	0.44726	-0.9309	10	0.22109	T	0.4	1.8777	7.1741	0.25734	0.0:0.6693:0.1242:0.2065	.	321;325	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	N	325;321	ENSP00000358413:S325N;ENSP00000358412:S321N	ENSP00000358412:S321N	S	-	2	0	ZDHHC6	114182241	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.904000	0.39868	0.444000	0.26612	-0.140000	0.14226	AGT	ZDHHC6	-	pfam_SH3_2	ENSG00000023041		0.388	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1	76	0.00	0	C	NM_022494		114192251	114192251	-1	no_errors	ENST00000369405	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	1.000	T
