#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CCDC14	64770	genome.wustl.edu	37	3	123667564	123667564	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr3:123667564G>A	ENST00000488653.2	-	7	892	c.802C>T	c.(802-804)Cca>Tca	p.P268S	CCDC14_ENST00000310351.4_Missense_Mutation_p.P108S|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.P68S|CCDC14_ENST00000433542.2_Missense_Mutation_p.P227S|CCDC14_ENST00000485727.1_Missense_Mutation_p.P68S			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	268					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGGCAGGGTGGCCGCTGAAGT	0.423																																						dbGAP											0													77.0	75.0	76.0					3																	123667564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.802C>T	3.37:g.123667564G>A	ENSP00000420180:p.Pro268Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.P268S	ENST00000488653.2	37	c.802		3	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019531	0.19355	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247;ENST00000426152;ENST00000434954	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.32	4.44	0.53790	.	0.118768	0.38272	N	0.001750	T	0.38374	0.1038	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.19817	0.039;0.039;0.039;0.01	B;B;B;B	0.23419	0.046;0.046;0.046;0.016	T	0.29941	-0.9995	10	0.40728	T	0.16	.	9.1517	0.36967	0.0806:0.1481:0.7713:0.0	.	268;227;68;268	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5	CCD14_HUMAN;.;.;.	S	268;108;68;68;227;249;68;68;68	ENSP00000420180:P268S;ENSP00000312031:P108S;ENSP00000418002:P68S;ENSP00000418403:P68S;ENSP00000395706:P227S;ENSP00000386866:P249S;ENSP00000400957:P68S;ENSP00000414655:P68S;ENSP00000387962:P68S	ENSP00000312031:P108S	P	-	1	0	CCDC14	125150254	0.011000	0.17503	0.716000	0.30569	0.083000	0.17756	0.886000	0.28241	1.475000	0.48197	0.655000	0.94253	CCA	CCDC14	-	NULL	ENSG00000175455		0.423	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		348	0.00	0	G	NM_022757		123667564	123667564	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	183	32.36	89	SNP	0.040	A
CCDC159	126075	genome.wustl.edu	37	19	11462767	11462768	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr19:11462767_11462768insA	ENST00000588790.1	+	9	972_973	c.525_526insA	c.(526-528)aacfs	p.N176fs	CCDC159_ENST00000458408.1_Frame_Shift_Ins_p.N176fs			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	291										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGAACTTGGTGAACATTCAGAA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.527dupA	19.37:g.11462769_11462769dupA	ENSP00000468232:p.Asn176fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEG3|B4DWR8|B4E133|B7ZAM4	Frame_Shift_Ins	INS	NULL	p.N175fs	ENST00000588790.1	37	c.525_526	CCDS45976.1	19																																																																																			CCDC159	-	NULL	ENSG00000183401		0.574	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	253	0.00	0	-	NM_001080503		11462767	11462768	+1	no_errors	ENST00000458408	ensembl	human	known	69_37n	frame_shift_ins	203	34.94	109	INS	0.242:0.583	A
ERO1L	30001	genome.wustl.edu	37	14	53145184	53145184	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr14:53145184C>T	ENST00000395686.3	-	4	548	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	109					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CCATCAGGAACTTCATCCTGA	0.294																																						dbGAP											0													90.0	92.0	91.0					14																	53145184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.325G>A	14.37:g.53145184C>T	ENSP00000379042:p.Val109Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	p.V109I	ENST00000395686.3	37	c.325	CCDS9709.1	14	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912773	0.17907	.	.	ENSG00000197930	ENST00000395686;ENST00000554251	D;D	0.91843	-2.92;-2.92	4.78	3.9	0.45041	.	0.187791	0.45867	N	0.000327	T	0.79650	0.4482	N	0.10916	0.065	0.80722	D	1	P	0.35107	0.484	B	0.33960	0.173	T	0.77064	-0.2726	10	0.02654	T	1	-13.6715	10.6233	0.45493	0.0:0.9089:0.0:0.0911	.	109	Q96HE7	ERO1A_HUMAN	I	109;69	ENSP00000379042:V109I;ENSP00000452269:V69I	ENSP00000379042:V109I	V	-	1	0	ERO1L	52214934	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	2.195000	0.42677	1.146000	0.42352	-0.126000	0.14955	GTT	ERO1L	-	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	ENSG00000197930		0.294	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1L	HGNC	protein_coding	OTTHUMT00000276892.1	154	0.00	0	C	NM_014584		53145184	53145184	-1	no_errors	ENST00000395686	ensembl	human	known	69_37n	missense	120	38.46	75	SNP	1.000	T
FRG1	2483	genome.wustl.edu	37	4	190876224	190876224	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr4:190876224T>G	ENST00000226798.4	+	5	572	c.350T>G	c.(349-351)cTt>cGt	p.L117R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	117					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGAAAATATCTTGGTATAAAT	0.353																																						dbGAP											0													62.0	61.0	61.0					4																	190876224		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.350T>G	4.37:g.190876224T>G	ENSP00000226798:p.Leu117Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.L117R	ENST00000226798.4	37	c.350	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	20.4	3.991897	0.74703	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.58210	0.91;0.35	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79347	-0.1841	10	0.87932	D	0	-8.6377	11.3071	0.49342	0.0:0.0:0.0:1.0	.	117	Q14331	FRG1_HUMAN	R	117;54	ENSP00000226798:L117R;ENSP00000435943:L54R	ENSP00000226798:L117R	L	+	2	0	FRG1	191113218	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.497000	0.81536	1.599000	0.50093	0.462000	0.41574	CTT	FRG1	-	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000109536		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	291	0.00	0	T	NM_004477		190876224	190876224	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	missense	361	14.45	61	SNP	1.000	G
GATA3	2625	genome.wustl.edu	37	10	8111512	8111513	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr10:8111512_8111513insT	ENST00000346208.3	+	5	1453_1454	c.998_999insT	c.(997-1002)aatgggfs	p.G334fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G335fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N334fs*19(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGGAATGCCAATGGGGACCCTG	0.569			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.999dupT	10.37:g.8111513_8111513dupT	ENSP00000341619:p.Gly334fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G335fs	ENST00000346208.3	37	c.1001_1002	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.569	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	215	0.00	0	-	NM_001002295		8111512	8111513	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	279	19.36	67	INS	1.000:0.859	T
GTPBP2	54676	genome.wustl.edu	37	6	43593250	43593250	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr6:43593250C>G	ENST00000307126.5	-	5	554	c.555G>C	c.(553-555)aaG>aaC	p.K185N	GTPBP2_ENST00000307114.7_Missense_Mutation_p.K97N|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCAGAGTTGACTTCCCAGAGT	0.572																																					GBM(116;405 1620 28302 32150 44768)	dbGAP											0													61.0	62.0	61.0					6																	43593250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.555G>C	6.37:g.43593250C>G	ENSP00000303997:p.Lys185Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.K185N	ENST00000307126.5	37	c.555	CCDS4903.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.21|19.21	3.783891|3.783891	0.70222|0.70222	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781|ENST00000442748	D;D;T|.	0.92858|.	-3.12;-3.12;-0.63|.	4.38|4.38	3.49|3.49	0.39957|0.39957	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84437|0.84437	0.5472|0.5472	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.87560|0.87560	0.2471|0.2471	10|5	0.87932|.	D|.	0|.	-19.0638|-19.0638	10.4435|10.4435	0.44479|0.44479	0.0:0.843:0.0:0.157|0.0:0.843:0.0:0.157	.|.	177;185|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	N|T	185;97;177|151	ENSP00000303997:K185N;ENSP00000304893:K97N;ENSP00000410676:K177N|.	ENSP00000304893:K97N|.	K|S	-|-	3|2	2|0	GTPBP2|GTPBP2	43701228|43701228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	2.111000|2.111000	0.41883|0.41883	2.259000|2.259000	0.74868|0.74868	0.462000|0.462000	0.41574|0.41574	AAG|AGT	GTPBP2	-	pfam_ProtSyn_GTP-bd	ENSG00000172432		0.572	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	96	0.00	0	C			43593250	43593250	-1	no_errors	ENST00000307126	ensembl	human	known	69_37n	missense	35	66.97	73	SNP	1.000	G
HADHA	3030	genome.wustl.edu	37	2	26432729	26432729	+	Silent	SNP	T	T	C			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr2:26432729T>C	ENST00000380649.3	-	11	1134	c.1005A>G	c.(1003-1005)gaA>gaG	p.E335E		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	335					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCTTTGATTCTTTGGTCA	0.403																																						dbGAP											0													111.0	113.0	112.0					2																	26432729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1005A>G	2.37:g.26432729T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	p.E335	ENST00000380649.3	37	c.1005	CCDS1721.1	2																																																																																			HADHA	-	tigrfam_Fa_ox_alpha_mit	ENSG00000084754		0.403	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1	284	0.00	0	T	NM_000182		26432729	26432729	-1	no_errors	ENST00000380649	ensembl	human	known	69_37n	silent	266	29.44	111	SNP	1.000	C
HERC6	55008	genome.wustl.edu	37	4	89304502	89304502	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr4:89304502G>A	ENST00000264346.7	+	2	388	c.329G>A	c.(328-330)gGa>gAa	p.G110E	HERC6_ENST00000380265.5_Missense_Mutation_p.G110E|HERC6_ENST00000273960.3_Missense_Mutation_p.G110E	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	110					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTGGGGATTGGAGAATTCAAG	0.483																																						dbGAP											0													66.0	72.0	70.0					4																	89304502		1910	4126	6036	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.329G>A	4.37:g.89304502G>A	ENSP00000264346:p.Gly110Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G110E	ENST00000264346.7	37	c.329	CCDS47098.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.365|9.365	1.068975|1.068975	0.20147|0.20147	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000502870|ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	.|D;D;D	.|0.83419	.|-1.72;-1.72;-1.72	4.9|4.9	4.06|4.06	0.47325|0.47325	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.102125	.|0.42964	.|D	.|0.000622	D|D	0.89733|0.89733	0.6800|0.6800	M|M	0.82630|0.82630	2.6|2.6	0.27510|0.27510	N|N	0.951704|0.951704	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.72982	.|0.939;0.979	T|T	0.82918|0.82918	-0.0219|-0.0219	5|10	.|0.21014	.|T	.|0.42	.|.	12.3839|12.3839	0.55322|0.55322	0.0833:0.0:0.9167:0.0|0.0833:0.0:0.9167:0.0	.|.	.|110;110	.|Q8IVU3-2;Q8IVU3	.|.;HERC6_HUMAN	K|E	75|110	.|ENSP00000369617:G110E;ENSP00000273960:G110E;ENSP00000264346:G110E	.|ENSP00000264346:G110E	E|G	+|+	1|2	0|0	HERC6|HERC6	89523525|89523525	0.526000|0.526000	0.26298|0.26298	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	0.750000|0.750000	0.26334|0.26334	1.308000|1.308000	0.44962|0.44962	0.485000|0.485000	0.47835|0.47835	GAG|GGA	HERC6	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000138642		0.483	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	327	0.00	0	G			89304502	89304502	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	161	43.16	123	SNP	0.824	A
KCND1	3750	genome.wustl.edu	37	X	48826456	48826458	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chrX:48826456_48826458delAGA	ENST00000218176.3	-	1	1518_1520	c.221_223delTCT	c.(220-225)ttctac>tac	p.F74del	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	74					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TCAGCATCGTAGAAGAATTCCTT	0.576																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.221_223delTCT	X.37:g.48826459_48826461delAGA	ENSP00000218176:p.Phe74del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF1|B2RCG0|O75671	In_Frame_Del	DEL	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.F74in_frame_del	ENST00000218176.3	37	c.223_221	CCDS14314.1	X																																																																																			KCND1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv9	ENSG00000102057		0.576	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	37	0.00	0	AGA	NM_004979		48826456	48826458	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	in_frame_del	71	30.10	31	DEL	1.000:1.000:1.000	-
KCNJ15	3772	genome.wustl.edu	37	21	39671581	39671581	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr21:39671581G>A	ENST00000328656.4	+	4	701	c.398G>A	c.(397-399)cGt>cAt	p.R133H	KCNJ15_ENST00000398934.1_Missense_Mutation_p.R133H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.R133H|KCNJ15_ENST00000398930.1_Missense_Mutation_p.R133H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.R133H	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	133					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TATGGAGTCCGTTCCATCACA	0.502																																						dbGAP											0													107.0	105.0	106.0					21																	39671581		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.398G>A	21.37:g.39671581G>A	ENSP00000331698:p.Arg133His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1	p.R133H	ENST00000328656.4	37	c.398	CCDS13656.1	21	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918617	0.92249	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21	5.83	5.83	0.93111	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99236	1.0883	9	.	.	.	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	133	Q99712	IRK15_HUMAN	H	133	ENSP00000331698:R133H;ENSP00000381902:R133H;ENSP00000381911:R133H;ENSP00000381905:R133H;ENSP00000414487:R133H;ENSP00000381904:R133H;ENSP00000381907:R133H;ENSP00000381901:R133H;ENSP00000400849:R133H	.	R	+	2	0	KCNJ15	38593451	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.869000	0.99810	2.770000	0.95276	0.655000	0.94253	CGT	KCNJ15	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000157551		0.502	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	117	0.84	1	G	NM_002243		39671581	39671581	+1	no_errors	ENST00000328656	ensembl	human	known	69_37n	missense	177	20.89	47	SNP	1.000	A
KCNJ16	3773	genome.wustl.edu	37	17	68128759	68128759	+	Silent	SNP	G	G	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr17:68128759G>A	ENST00000589377.1	+	2	694	c.531G>A	c.(529-531)aaG>aaA	p.K177K	KCNJ16_ENST00000392671.1_Silent_p.K177K|KCNJ16_ENST00000585558.1_Silent_p.K212K|KCNJ16_ENST00000586462.1_Silent_p.K216K|KCNJ16_ENST00000392670.1_Silent_p.K177K|KCNJ16_ENST00000283936.1_Silent_p.K177K	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	177					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTGCTCGAAAGAGAGCCCAAA	0.478																																						dbGAP											0													96.0	87.0	90.0					17																	68128759		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.531G>A	17.37:g.68128759G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2	p.K177	ENST00000589377.1	37	c.531	CCDS11687.1	17																																																																																			KCNJ16	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000153822		0.478	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	120	0.00	0	G	NM_018658		68128759	68128759	+1	no_errors	ENST00000283936	ensembl	human	known	69_37n	silent	160	28.76	65	SNP	1.000	A
KLRC1	3821	genome.wustl.edu	37	12	10600155	10600155	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr12:10600155A>G	ENST00000359151.3	-	6	747	c.566T>C	c.(565-567)aTg>aCg	p.M189T	KLRC1_ENST00000536188.1_Missense_Mutation_p.M189T|KLRC1_ENST00000408006.3_Missense_Mutation_p.M171T|KLRC1_ENST00000544822.1_Missense_Mutation_p.M189T|KLRC1_ENST00000347831.5_Missense_Mutation_p.M171T	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	189	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAAACCATTCATTGTCACCCA	0.313																																						dbGAP											0													114.0	106.0	108.0					12																	10600155		2203	4300	6503	-	-	-	SO:0001583	missense	0			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.566T>C	12.37:g.10600155A>G	ENSP00000352064:p.Met189Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.M189T	ENST00000359151.3	37	c.566	CCDS8625.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.671|0.671	-0.801964|-0.801964	0.02841|0.02841	.|.	.|.	ENSG00000134545|ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822|ENST00000543893	T;T;T;T;T|.	0.04809|.	3.55;3.55;3.55;3.55;3.55|.	2.34|2.34	-4.68|-4.68	0.03309|0.03309	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	2.018430|.	0.02654|.	N|.	0.106722|.	T|.	0.06096|.	0.0158|.	N|N	0.00510|0.00510	-1.415|-1.415	0.09310|0.09310	N|N	1|1	B;B|.	0.15930|.	0.0;0.015|.	B;B|.	0.22753|.	0.0;0.041|.	T|.	0.27400|.	-1.0075|.	10|.	0.29301|.	T|.	0.29|.	.|.	3.5421|3.5421	0.07815|0.07815	0.2355:0.0:0.4074:0.357|0.2355:0.0:0.4074:0.357	.|.	171;189|.	P26715-2;P26715|.	.;NKG2A_HUMAN|.	T|R	189;189;171;171;189|69	ENSP00000441432:M189T;ENSP00000352064:M189T;ENSP00000385304:M171T;ENSP00000256965:M171T;ENSP00000438038:M189T|.	ENSP00000256965:M171T|.	M|X	-|-	2|1	0|0	KLRC1|KLRC1	10491422|10491422	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	-1.625000|-1.625000	0.02036|0.02036	-1.620000|-1.620000	0.01564|0.01564	0.327000|0.327000	0.21459|0.21459	ATG|TGA	KLRC1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000134545		0.313	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	390	0.00	0	A	NM_002259		10600155	10600155	-1	no_errors	ENST00000359151	ensembl	human	known	69_37n	missense	267	39.09	172	SNP	0.001	G
KMT2C	58508	genome.wustl.edu	37	7	151882645	151882646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr7:151882645_151882646insA	ENST00000262189.6	-	34	5297_5298	c.5079_5080insT	c.(5077-5082)tatgtgfs	p.V1694fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.V1694fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1694					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAAAATACCACATATGGTGCTC	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5080dupT	7.37:g.151882646_151882646dupA	ENSP00000262189:p.Val1694fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V1693fs	ENST00000262189.6	37	c.5080_5079	CCDS5931.1	7																																																																																			MLL3	-	superfamily_HMG_superfamily,smart_HMG_superfamily	ENSG00000055609		0.307	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	313	0.00	0	-			151882645	151882646	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	283	32.94	139	INS	1.000:1.000	A
NALCN	259232	genome.wustl.edu	37	13	101759935	101759935	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr13:101759935C>G	ENST00000251127.6	-	22	2563	c.2482G>C	c.(2482-2484)Gag>Cag	p.E828Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	828					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGTGGTTCTCTCTGAGTTCC	0.498																																						dbGAP											0													170.0	150.0	157.0					13																	101759935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2482G>C	13.37:g.101759935C>G	ENSP00000251127:p.Glu828Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E828Q	ENST00000251127.6	37	c.2482	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876250	0.91664	.	.	ENSG00000102452	ENST00000251127	D	0.97976	-4.64	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.72032	D	0.01	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	828	Q8IZF0	NALCN_HUMAN	Q	828	ENSP00000251127:E828Q	ENSP00000251127:E828Q	E	-	1	0	NALCN	100557936	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.731000	0.84895	2.630000	0.89119	0.650000	0.86243	GAG	NALCN	-	NULL	ENSG00000102452		0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	507	0.20	1	C	NM_052867		101759935	101759935	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	156	67.89	332	SNP	1.000	G
POM121C	100101267	genome.wustl.edu	37	7	75044928	75044928	+	IGR	SNP	G	G	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr7:75044928G>T	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CACGCTGCTGGCCTGGGTTGG	0.622																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044928G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	-	NULL	ENST00000257665.5	37	NULL		7																																																																																			NSUN5P1	-	-	ENSG00000223705		0.622	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	NSUN5P1	HGNC	protein_coding	OTTHUMT00000343919.2	33	0.00	0	G	NM_001099415		75044928	75044928	+1	no_errors	ENST00000393633	ensembl	human	known	69_37n	rna	51	43.33	39	SNP	1.000	T
OR5J2	282775	genome.wustl.edu	37	11	55944758	55944758	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr11:55944758C>T	ENST00000312298.1	+	1	665	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTTCATTGCTTTTGCTAGC	0.478																																						dbGAP											0													149.0	116.0	127.0					11																	55944758		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.665C>T	11.37:g.55944758C>T	ENSP00000310788:p.Ala222Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.A222V	ENST00000312298.1	37	c.665	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135473	0.06711	.	.	ENSG00000174957	ENST00000312298	T	0.00044	8.83	4.26	-5.57	0.02521	GPCR, rhodopsin-like superfamily (1);	2.120160	0.02465	N	0.086967	T	0.00073	0.0002	N	0.01188	-0.97	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.29761	-1.0001	10	0.34782	T	0.22	.	7.7563	0.28925	0.0:0.4292:0.1216:0.4492	.	222	Q8NH18	OR5J2_HUMAN	V	222	ENSP00000310788:A222V	ENSP00000310788:A222V	A	+	2	0	OR5J2	55701334	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.279000	0.08479	-1.268000	0.02439	-0.331000	0.08364	GCT	OR5J2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174957		0.478	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	174	0.00	0	C	NM_001005492		55944758	55944758	+1	no_errors	ENST00000312298	ensembl	human	known	69_37n	missense	216	41.98	157	SNP	0.000	T
PHACTR1	221692	genome.wustl.edu	37	6	13206102	13206102	+	Silent	SNP	A	A	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr6:13206102A>T	ENST00000379350.1	+	7	849	c.720A>T	c.(718-720)ctA>ctT	p.L240L	PHACTR1_ENST00000457702.2_Silent_p.L95L|PHACTR1_ENST00000332995.7_Silent_p.L240L|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	240					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CGCCTCCGCTACCTCCAAAGA	0.592																																						dbGAP											0													58.0	63.0	61.0					6																	13206102		1971	4151	6122	-	-	-	SO:0001819	synonymous_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.720A>T	6.37:g.13206102A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Y75F	ENST00000379350.1	37	c.224		6	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255264	0.22965	.	.	ENSG00000112137	ENST00000415087	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-6.0143	14.3093	0.66405	1.0:0.0:0.0:0.0	.	.	.	.	F	75	.	.	Y	+	2	0	PHACTR1	13314081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.620000	0.74224	2.153000	0.67306	0.459000	0.35465	TAC	PHACTR1	-	NULL	ENSG00000112137		0.592	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	68	0.00	0	A	XM_166420		13206102	13206102	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415087	ensembl	human	known	69_37n	missense	45	65.12	84	SNP	1.000	T
PHLDB2	90102	genome.wustl.edu	37	3	111632538	111632538	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr3:111632538A>G	ENST00000431670.2	+	3	2119	c.1708A>G	c.(1708-1710)Atc>Gtc	p.I570V	PHLDB2_ENST00000393925.3_Missense_Mutation_p.I570V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.I570V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I597V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.I570V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I570V|PHLDB2_ENST00000495180.1_Missense_Mutation_p.I156V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	570						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTATCTAAGTATCCTACCAAA	0.463																																						dbGAP											0													133.0	145.0	141.0					3																	111632538		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1708A>G	3.37:g.111632538A>G	ENSP00000405405:p.Ile570Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I570V	ENST00000431670.2	37	c.1708	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587136	0.66105	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.31510	1.49;1.52;1.5;1.5;1.52;1.5;1.54	5.73	5.73	0.89815	.	0.175985	0.51477	D	0.000093	T	0.45478	0.1344	L	0.43152	1.355	0.35196	D	0.773794	P;P;D;P;P	0.62365	0.842;0.66;0.991;0.599;0.599	B;B;D;B;B	0.72625	0.322;0.256;0.978;0.28;0.28	T	0.52472	-0.8571	10	0.27785	T	0.31	.	13.5417	0.61679	1.0:0.0:0.0:0.0	.	156;570;570;570;597	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	V	597;597;570;570;570;570;570;570;156	ENSP00000377500:I597V;ENSP00000405405:I570V;ENSP00000405292:I570V;ENSP00000418296:I570V;ENSP00000377502:I570V;ENSP00000418319:I570V;ENSP00000420303:I156V	ENSP00000352764:I597V	I	+	1	0	PHLDB2	113115228	1.000000	0.71417	0.989000	0.46669	0.662000	0.39071	5.690000	0.68241	2.190000	0.69967	0.454000	0.30748	ATC	PHLDB2	-	NULL	ENSG00000144824		0.463	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	287	0.00	0	A	NM_145753		111632538	111632538	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	163	40.51	111	SNP	0.999	G
PIWIL4	143689	genome.wustl.edu	37	11	94308183	94308183	+	Missense_Mutation	SNP	C	C	G	rs147845557		TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr11:94308183C>G	ENST00000299001.6	+	3	396	c.185C>G	c.(184-186)tCt>tGt	p.S62C	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	62					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGATATCTTCTGGTGATGCT	0.353																																						dbGAP											0													101.0	96.0	98.0					11																	94308183		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.185C>G	11.37:g.94308183C>G	ENSP00000299001:p.Ser62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.S62C	ENST00000299001.6	37	c.185	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	c	10.57	1.386901	0.25031	.	.	ENSG00000134627	ENST00000299001	T	0.04551	3.6	4.6	2.71	0.32032	.	0.639837	0.14136	N	0.339076	T	0.10465	0.0256	L	0.56769	1.78	0.80722	D	1	P	0.50819	0.939	P	0.51866	0.682	T	0.05162	-1.0902	10	0.72032	D	0.01	-3.272	8.1056	0.30883	0.158:0.7574:0.0:0.0846	.	62	Q7Z3Z4	PIWL4_HUMAN	C	62	ENSP00000299001:S62C	ENSP00000299001:S62C	S	+	2	0	PIWIL4	93947831	0.986000	0.35501	0.024000	0.17045	0.006000	0.05464	2.545000	0.45769	0.550000	0.28991	0.650000	0.86243	TCT	PIWIL4	-	NULL	ENSG00000134627		0.353	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	306	0.00	0	C	NM_152431		94308183	94308183	+1	no_errors	ENST00000299001	ensembl	human	known	69_37n	missense	264	21.89	74	SNP	0.973	G
PTPRB	5787	genome.wustl.edu	37	12	70925884	70925884	+	Silent	SNP	T	T	C			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr12:70925884T>C	ENST00000261266.5	-	30	5810	c.5781A>G	c.(5779-5781)aaA>aaG	p.K1927K	RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Silent_p.K1837K|PTPRB_ENST00000334414.6_Silent_p.K2145K|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Silent_p.K2057K|PTPRB_ENST00000538708.1_Silent_p.K1837K|PTPRB_ENST00000550857.1_Silent_p.K1837K|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1927	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACAGAGTCTTTGGAGTCTA	0.468																																						dbGAP											0													127.0	123.0	124.0					12																	70925884		1945	4141	6086	-	-	-	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5781A>G	12.37:g.70925884T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K2145	ENST00000261266.5	37	c.6435	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000127329		0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	348	0.00	0	T			70925884	70925884	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	349	35.37	191	SNP	0.972	C
SERPIND1	3053	genome.wustl.edu	37	22	21138494	21138494	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr22:21138494C>G	ENST00000215727.5	+	3	1407	c.1124C>G	c.(1123-1125)cCc>cGc	p.P375R	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.P375R	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	375					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CAACTGACACCCCGGGTGGTG	0.522											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													76.0	68.0	71.0					22																	21138494		2203	4300	6503	-	-	-	SO:0001583	missense	0			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1124C>G	22.37:g.21138494C>G	ENSP00000215727:p.Pro375Arg	Somatic	746	WXS	Illumina GAIIx	Phase_IV	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.P375R	ENST00000215727.5	37	c.1124	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114250	0.77210	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84070	-1.8;-1.8	4.45	4.45	0.53987	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	L	0.52823	1.66	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.65140	0.932;0.932	D	0.85379	0.1118	10	0.26408	T	0.33	.	17.642	0.88139	0.0:1.0:0.0:0.0	.	375;375	Q8IVC0;P05546	.;HEP2_HUMAN	R	375	ENSP00000215727:P375R;ENSP00000384050:P375R	ENSP00000215727:P375R	P	+	2	0	SERPIND1	19468494	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	4.598000	0.61069	2.468000	0.83385	0.655000	0.94253	CCC	SERPIND1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000099937		0.522	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	HGNC	protein_coding	OTTHUMT00000319961.1	70	0.00	0	C	NM_000185		21138494	21138494	+1	no_errors	ENST00000215727	ensembl	human	known	69_37n	missense	87	41.22	61	SNP	1.000	G
SMAD9	4093	genome.wustl.edu	37	13	37453778	37453778	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr13:37453778C>T	ENST00000399275.2	-	1	188	c.49G>A	c.(49-51)Gca>Aca	p.A17T	SMAD9_ENST00000350148.5_Missense_Mutation_p.A17T|SMAD9_ENST00000379826.4_Missense_Mutation_p.A17T|SMAD9_ENST00000483941.1_5'UTR			O15198	SMAD9_HUMAN	SMAD family member 9	17	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTCTTCACTGCGGGGCTGGTG	0.577																																						dbGAP											0													53.0	57.0	56.0					13																	37453778		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.49G>A	13.37:g.37453778C>T	ENSP00000382216:p.Ala17Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.A17T	ENST00000399275.2	37	c.49	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719316	0.68844	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.71817	-0.6;-0.6;-0.6	5.53	5.53	0.82687	MAD homology, MH1 (3);	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.72894	2.215	0.80722	D	1	B;P	0.37141	0.32;0.584	B;B	0.38327	0.171;0.271	T	0.71646	-0.4530	10	0.33141	T	0.24	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	17;17	O15198-2;O15198	.;SMAD9_HUMAN	T	17	ENSP00000382216:A17T;ENSP00000239885:A17T;ENSP00000369154:A17T	ENSP00000239885:A17T	A	-	1	0	SMAD9	36351778	1.000000	0.71417	0.965000	0.40720	0.646000	0.38490	7.762000	0.85270	2.599000	0.87857	0.563000	0.77884	GCA	SMAD9	-	superfamily_MAD_homology_MH1,pfscan_MAD_homology_MH1	ENSG00000120693		0.577	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	85	0.00	0	C	NM_005905		37453778	37453778	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	28	72.00	72	SNP	1.000	T
STK38L	23012	genome.wustl.edu	37	12	27470270	27470270	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr12:27470270C>T	ENST00000389032.3	+	10	1008	c.839C>T	c.(838-840)gCa>gTa	p.A280V	STK38L_ENST00000539577.1_Splice_Site_p.A187V	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CCTTTGTAGGCATATTCCACA	0.388																																						dbGAP											0													190.0	187.0	188.0					12																	27470270		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.838-1C>T	12.37:g.27470270C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A280V	ENST00000389032.3	37	c.839	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.275202	0.95459	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.65732	-0.17;-0.17	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.986	D;P	0.67382	0.951;0.85	T	0.76402	-0.2972	10	0.87932	D	0	.	18.3577	0.90364	0.0:1.0:0.0:0.0	.	187;280	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	V	280;187	ENSP00000373684:A280V;ENSP00000446386:A187V	ENSP00000373684:A280V	A	+	2	0	STK38L	27361537	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.596000	0.82721	2.741000	0.93983	0.655000	0.94253	GCA	STK38L	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000211455		0.388	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	342	0.00	0	C	NM_015000	Missense_Mutation	27470270	27470270	+1	no_errors	ENST00000389032	ensembl	human	known	69_37n	missense	254	43.20	197	SNP	1.000	T
TPCN1	53373	genome.wustl.edu	37	12	113728784	113728784	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr12:113728784A>T	ENST00000335509.6	+	23	2254	c.1940A>T	c.(1939-1941)aAc>aTc	p.N647I	TPCN1_ENST00000550785.1_Missense_Mutation_p.N719I|TPCN1_ENST00000541517.1_Missense_Mutation_p.N719I|TPCN1_ENST00000392569.4_Missense_Mutation_p.N579I	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	647					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACAGTTGTCAACAACTGGTAC	0.547																																						dbGAP											0													202.0	209.0	207.0					12																	113728784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1940A>T	12.37:g.113728784A>T	ENSP00000335300:p.Asn647Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.N719I	ENST00000335509.6	37	c.2156	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239354	0.79800	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.88450	2.955	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99342	1.0912	10	0.72032	D	0.01	-37.5017	14.8961	0.70644	1.0:0.0:0.0:0.0	.	719;647	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	I	647;719;719;579	ENSP00000335300:N647I;ENSP00000448083:N719I;ENSP00000438125:N719I;ENSP00000376350:N579I	ENSP00000335300:N647I	N	+	2	0	TPCN1	112213167	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.787000	0.91830	1.996000	0.58369	0.459000	0.35465	AAC	TPCN1	-	pfam_Ion_trans_dom	ENSG00000186815		0.547	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	176	0.00	0	A	NM_017901		113728784	113728784	+1	no_errors	ENST00000541517	ensembl	human	known	69_37n	missense	208	40.11	140	SNP	1.000	T
UBE2A	7319	genome.wustl.edu	37	X	118715485	118715485	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chrX:118715485delC	ENST00000371558.2	+	4	341	c.167delC	c.(166-168)acafs	p.T56fs	UBE2A_ENST00000346330.3_Intron|UBE2A_ENST00000371569.5_5'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	56					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TTTAAACTTACAATAGAATTC	0.303								Rad6 pathway																														dbGAP											0													77.0	75.0	75.0					X																	118715485		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.167delC	X.37:g.118715485delC	ENSP00000360613:p.Thr56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Frame_Shift_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.T56fs	ENST00000371558.2	37	c.167	CCDS14580.1	X																																																																																			UBE2A	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000077721		0.303	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2A	HGNC	protein_coding	OTTHUMT00000058036.1	212	0.00	0	C	NM_003336		118715485	118715485	+1	no_errors	ENST00000371558	ensembl	human	known	69_37n	frame_shift_del	155	38.91	107	DEL	1.000	-
VPS13D	55187	genome.wustl.edu	37	1	12331106	12331106	+	Silent	SNP	A	A	G			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr1:12331106A>G	ENST00000358136.3	+	17	2158	c.2028A>G	c.(2026-2028)caA>caG	p.Q676Q	VPS13D_ENST00000356315.4_Silent_p.Q676Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		CCCGAAGACAATATAACAAGC	0.453																																						dbGAP											0													101.0	95.0	97.0					1																	12331106		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2028A>G	1.37:g.12331106A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.Q676	ENST00000358136.3	37	c.2028	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	170	0.00	0	A	NM_015378		12331106	12331106	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	silent	135	43.33	104	SNP	0.998	G
VSIG8	391123	genome.wustl.edu	37	1	159827578	159827580	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr1:159827578_159827580delTGA	ENST00000368100.1	-	4	742_744	c.607_609delTCA	c.(607-609)tcadel	p.S203del	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	203	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AGGACAGCTCTGAGTGGTAGCTG	0.601																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.607_609delTCA	1.37:g.159827578_159827580delTGA	ENSP00000357080:p.Ser203del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU14	In_Frame_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.S203in_frame_del	ENST00000368100.1	37	c.609_607	CCDS30913.1	1																																																																																			VSIG8	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000243284		0.601	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG8	HGNC	protein_coding	OTTHUMT00000085978.8	144	0.00	0	TGA	NM_001013661		159827578	159827580	-1	no_errors	ENST00000368100	ensembl	human	known	69_37n	in_frame_del	193	15.64	38	DEL	0.909:0.997:1.000	-
WASH3P	374666	genome.wustl.edu	37	15	102516652	102516652	+	RNA	SNP	C	C	T	rs71252255	byFrequency	TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr15:102516652C>T	ENST00000557932.1	+	0	1600				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCGGGGACTTCTGTCTGCCTG	0.592																																						dbGAP											0																																										-	-	-			0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516652C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.592	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	12	0.00	0	C	NM_199163		102516652	102516652	+1	no_errors	ENST00000557932	ensembl	human	known	69_37n	rna	9	40.00	6	SNP	0.002	T
ZNF292	23036	genome.wustl.edu	37	6	87964453	87964456	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-B6-A0WV-01A-11D-A10G-09	TCGA-B6-A0WV-10A-01D-A10G-09	TATC	TATC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b92107c5-c46f-4606-b4e9-2dab55ca4e9c	ea0de699-16b8-468d-ab85-223eb3880566	g.chr6:87964453_87964456delTATC	ENST00000369577.3	+	8	1149_1152	c.1106_1109delTATC	c.(1105-1110)atatctfs	p.IS369fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.IS364fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	369						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAGTGAAAATATCTATTTGCAAG	0.397																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1106_1109delTATC	6.37:g.87964453_87964456delTATC	ENSP00000358590:p.Ile369fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S370fs	ENST00000369577.3	37	c.1106_1109	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.397	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	276	0.00	0	TATC	NM_015021		87964453	87964456	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	frame_shift_del	113	52.57	133	DEL	1.000:0.995:1.000:1.000	-
