#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
ADAM12	8038	genome.wustl.edu	37	10	127708377	127708377	+	Missense_Mutation	SNP	G	G	T	rs56409749		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr10:127708377G>T	ENST00000368679.4	-	22	2865	c.2556C>A	c.(2554-2556)aaC>aaA	p.N852K		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	852					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCTGAGGGGGGTTTGGCTTAC	0.612																																						dbGAP											0													37.0	37.0	37.0					10																	127708377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2556C>A	10.37:g.127708377G>T	ENSP00000357668:p.Asn852Lys		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.N852K	ENST00000368679.4	37	c.2556	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271616	0.40194	.	.	ENSG00000148848	ENST00000368679	T	0.01438	4.89	5.37	0.341	0.15991	.	0.195722	0.43416	D	0.000566	T	0.00936	0.0031	L	0.38175	1.15	0.49915	D	0.99983	P	0.41041	0.736	B	0.30646	0.118	T	0.69191	-0.5210	10	0.15499	T	0.54	.	6.2886	0.21047	0.3131:0.1316:0.5553:0.0	.	852	O43184	ADA12_HUMAN	K	852	ENSP00000357668:N852K	ENSP00000357668:N852K	N	-	3	2	ADAM12	127698367	0.010000	0.17322	0.920000	0.36463	0.974000	0.67602	-0.034000	0.12225	0.154000	0.19237	0.650000	0.86243	AAC	ADAM12	-	NULL	ENSG00000148848		0.612	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	106	0.00	0	G			127708377	127708377	-1	no_errors	ENST00000368679	ensembl	human	known	69_37n	missense	53	39.77	35	SNP	0.505	T
ARHGEF6	9459	genome.wustl.edu	37	X	135772826	135772826	+	Silent	SNP	T	T	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chrX:135772826T>C	ENST00000250617.6	-	10	2333	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P	ARHGEF6_ENST00000370622.1_Silent_p.P222P|ARHGEF6_ENST00000370620.1_Silent_p.P222P|ARHGEF6_ENST00000535227.1_Silent_p.P249P	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	376	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTCGCATGAATGGTTTGCTGA	0.413																																						dbGAP											0													187.0	145.0	159.0					X																	135772826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1128A>G	X.37:g.135772826T>C			A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.P376	ENST00000250617.6	37	c.1128	CCDS14660.1	X																																																																																			ARHGEF6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000129675		0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	254	0.00	0	T	NM_004840		135772826	135772826	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	silent	166	39.19	107	SNP	0.943	C
ARID1A	8289	genome.wustl.edu	37	1	27099478	27099478	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr1:27099478G>A	ENST00000324856.7	+	14	4086	c.3715G>A	c.(3715-3717)Gct>Act	p.A1239T	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Splice_Site_p.A856T|ARID1A_ENST00000457599.2_Splice_Site_p.A1239T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1239					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGAGGAAAGGTGACTGATC	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													94.0	104.0	101.0					1																	27099478		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3715+1G>A	1.37:g.27099478G>A			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A1239T	ENST00000324856.7	37	c.3715	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.514231|3.514231	0.64522|0.64522	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|.	0.02606|.	4.48;4.23;4.3|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.115192|.	0.56097|.	D|.	0.000040|.	T|T	0.60314|0.60314	0.2259|0.2259	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.46142|.	0.447;0.799;0.873;0.799|.	B;B;B;B|.	0.42361|.	0.118;0.214;0.385;0.214|.	T|T	0.53394|0.53394	-0.8445|-0.8445	10|5	0.20046|.	T|.	0.44|.	-1.693|-1.693	19.2435|19.2435	0.93893|0.93893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	856;1239;1239;892|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	T|N	1239;1239;856|135	ENSP00000320485:A1239T;ENSP00000387636:A1239T;ENSP00000363267:A856T|.	ENSP00000320485:A1239T|.	A|S	+|+	1|2	0|0	ARID1A|ARID1A	26972065|26972065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.263000|9.263000	0.95617|0.95617	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCT|AGC	ARID1A	-	NULL	ENSG00000117713		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	338	0.00	0	G	NM_139135	Missense_Mutation	27099478	27099478	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	222	35.28	121	SNP	1.000	A
C14orf39	317761	genome.wustl.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr14:60938273G>A	ENST00000321731.3	-	6	667	c.508C>T	c.(508-510)Cga>Tga	p.R170*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	170					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249																																						dbGAP											0													36.0	38.0	37.0					14																	60938273		2201	4276	6477	-	-	-	SO:0001587	stop_gained	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.508C>T	14.37:g.60938273G>A	ENSP00000324920:p.Arg170*		Q08AQ4	Nonsense_Mutation	SNP	NULL	p.R170*	ENST00000321731.3	37	c.508	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	-0.057	0.13803	.	0.269718	0.26086	N	0.026436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7089	0.12863	0.4444:0.0:0.4097:0.1459	.	.	.	.	X	170	.	ENSP00000324920:R170X	R	-	1	2	C14orf39	60008026	0.931000	0.31567	0.999000	0.59377	0.802000	0.45316	-0.136000	0.10405	0.232000	0.21100	0.655000	0.94253	CGA	C14orf39	-	NULL	ENSG00000179008		0.249	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	119	0.00	0	G	NM_174978		60938273	60938273	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	nonsense	49	40.24	33	SNP	0.993	A
CBX2	84733	genome.wustl.edu	37	17	77758219	77758220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr17:77758219_77758220insC	ENST00000310942.4	+	5	1081_1082	c.977_978insC	c.(976-981)ggccccfs	p.GP326fs		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	326					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AACACAGGGGGCCCCCCGCACA	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.983dupC	17.37:g.77758225_77758225dupC	ENSP00000308750:p.Gly326fs		Q0VDA5|Q9BTB1	Frame_Shift_Ins	INS	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.H329fs	ENST00000310942.4	37	c.977_978	CCDS32757.1	17																																																																																			CBX2	-	NULL	ENSG00000173894		0.668	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX2	HGNC	protein_coding	OTTHUMT00000437040.1	8	0.00	0	-	NM_032647		77758219	77758220	+1	no_errors	ENST00000310942	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.033:0.000	C
CCDC108	255101	genome.wustl.edu	37	2	219888747	219888748	+	Frame_Shift_Ins	INS	-	-	G	rs373770290		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr2:219888747_219888748insG	ENST00000341552.5	-	15	2667_2668	c.2584_2585insC	c.(2584-2586)cagfs	p.Q862fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.Q862fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.Q862fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	862						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGATACTGGGGGGAAGCA	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2585dupC	2.37:g.219888753_219888753dupG	ENSP00000340776:p.Gln862fs		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	superfamily_PapD-like,pfscan_Major_sperm	p.Q862fs	ENST00000341552.5	37	c.2585_2584	CCDS2430.2	2																																																																																			CCDC108	-	superfamily_PapD-like	ENSG00000181378		0.579	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	28	0.00	0	-	NM_194302		219888747	219888748	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.093:0.055	G
CD36	948	genome.wustl.edu	37	7	80285857	80285857	+	Splice_Site	SNP	A	A	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr7:80285857A>T	ENST00000435819.1	+	7	806	c.122A>T	c.(121-123)cAa>cTa	p.Q41L	CD36_ENST00000544133.1_Splice_Site_p.Q41L|CD36_ENST00000394788.3_Splice_Site_p.Q41L|CD36_ENST00000309881.7_Splice_Site_p.Q41L|CD36_ENST00000441109.2_Intron|CD36_ENST00000432207.1_Splice_Site_p.Q41L|CD36_ENST00000447544.2_Splice_Site_p.Q41L|CD36_ENST00000538969.1_Splice_Site_p.Q41L|CD36_ENST00000534394.1_De_novo_Start_OutOfFrame|CD36_ENST00000433696.2_Splice_Site_p.Q41L			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	41					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TTTTCATAGCAAGTTGTCCTC	0.378																																						dbGAP											0													70.0	68.0	68.0					7																	80285857		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.121-1A>T	7.37:g.80285857A>T			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.Q41L	ENST00000435819.1	37	c.122	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974776	0.53720	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000482059;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.53	5.53	0.82687	.	0.146710	0.64402	D	0.000011	T	0.64305	0.2586	L	0.40543	1.245	0.33914	D	0.640092	B	0.19817	0.039	B	0.20384	0.029	T	0.67027	-0.5774	9	.	.	.	-24.7321	11.0127	0.47671	0.8441:0.1559:0.0:0.0	.	41	P16671	CD36_HUMAN	L	41	ENSP00000399421:Q41L;ENSP00000308165:Q41L;ENSP00000410371:Q41L;ENSP00000398760:Q41L;ENSP00000409762:Q41L;ENSP00000433659:Q41L;ENSP00000378268:Q41L;ENSP00000415743:Q41L;ENSP00000416388:Q41L;ENSP00000411411:Q41L;ENSP00000407690:Q41L;ENSP00000392298:Q41L;ENSP00000439543:Q41L;ENSP00000441956:Q41L;ENSP00000401863:Q41L	.	Q	+	2	0	CD36	80123793	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.017000	0.70805	2.219000	0.72066	0.533000	0.62120	CAA	CD36	-	pfam_CD36,prints_CD36_antigen	ENSG00000135218		0.378	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	230	0.00	0	A	NM_001001547	Missense_Mutation	80285857	80285857	+1	no_errors	ENST00000309881	ensembl	human	known	69_37n	missense	79	36.00	45	SNP	1.000	T
CDC27	996	genome.wustl.edu	37	17	45219239	45219239	+	Missense_Mutation	SNP	C	C	T	rs79201963		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr17:45219239C>T	ENST00000066544.3	-	12	1624	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	CDC27_ENST00000446365.2_Missense_Mutation_p.E450K|CDC27_ENST00000527547.1_Missense_Mutation_p.E510K|CDC27_ENST00000531206.1_Missense_Mutation_p.E517K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	511					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCTGAAAGTTCAAAATAGGCC	0.343																																						dbGAP											0													71.0	76.0	75.0					17																	45219239		2202	4298	6500	-	-	-	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1531G>A	17.37:g.45219239C>T	ENSP00000066544:p.Glu511Lys		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E517K	ENST00000066544.3	37	c.1549	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.401037	0.96030	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.989	D	0.89561	0.3806	10	0.87932	D	0	-3.4033	17.8151	0.88630	0.0:1.0:0.0:0.0	.	450;510;517;511	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	K	511;517;450;510	ENSP00000066544:E511K;ENSP00000434614:E517K;ENSP00000392802:E450K;ENSP00000437339:E510K	ENSP00000066544:E511K	E	-	1	0	CDC27	42574238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.810000	0.96702	0.650000	0.86243	GAA	CDC27	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.343	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	34	0.00	0	C			45219239	45219239	-1	no_errors	ENST00000531206	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	T
CHRNA7	1139	genome.wustl.edu	37	15	32460485	32460485	+	Silent	SNP	C	C	T	rs200301018		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr15:32460485C>T	ENST00000306901.3	+	10	1432	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	CHRNA7_ENST00000454250.3_Silent_p.N474N|CHRNA7_ENST00000455693.2_Silent_p.N264N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	445					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACATTGCCAACCGCTTCCGCT	0.667																																					Esophageal Squamous(193;529 2900 40232 43193)	dbGAP											0													1.0	2.0	2.0					15																	32460485		1021	2461	3482	-	-	-	SO:0001819	synonymous_variant	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1335C>T	15.37:g.32460485C>T			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N474	ENST00000306901.3	37	c.1422	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.667	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	14	0.00	0	C			32460485	32460485	+1	no_errors	ENST00000454250	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	1.000	T
CISH	1154	genome.wustl.edu	37	3	50645371	50645371	+	Silent	SNP	T	T	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr3:50645371T>C	ENST00000348721.3	-	3	624	c.444A>G	c.(442-444)ccA>ccG	p.P148P	CISH_ENST00000443053.2_Silent_p.P165P	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	148	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGGATGCGTGGCCTGGACA	0.592																																						dbGAP											0													62.0	59.0	60.0					3																	50645371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.444A>G	3.37:g.50645371T>C			B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.P165	ENST00000348721.3	37	c.495	CCDS2831.1	3																																																																																			CISH	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000114737		0.592	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISH	HGNC	protein_coding	OTTHUMT00000346245.1	19	0.00	0	T	NM_145071		50645371	50645371	-1	no_errors	ENST00000443053	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.053	C
COL22A1	169044	genome.wustl.edu	37	8	139890151	139890151	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr8:139890151C>T	ENST00000303045.6	-	3	946	c.500G>A	c.(499-501)cGc>cAc	p.R167H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R167H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATGCCAGCGCGGTGGGCTGC	0.716										HNSCC(7;0.00092)																												dbGAP											0													11.0	13.0	13.0					8																	139890151		2192	4280	6472	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.500G>A	8.37:g.139890151C>T	ENSP00000303153:p.Arg167His		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R167H	ENST00000303045.6	37	c.500	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349288	0.41599	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78595	-1.19;-1.19	5.3	2.03	0.26663	von Willebrand factor, type A (3);	1.084820	0.07255	N	0.866615	T	0.71005	0.3289	L	0.49571	1.57	0.09310	N	1	D	0.56287	0.975	P	0.45138	0.471	T	0.60306	-0.7289	9	.	.	.	.	1.5861	0.02644	0.1508:0.3861:0.2615:0.2016	.	167	Q8NFW1	COMA1_HUMAN	H	167	ENSP00000303153:R167H;ENSP00000387655:R167H	.	R	-	2	0	COL22A1	139959333	0.005000	0.15991	0.004000	0.12327	0.237000	0.25408	0.844000	0.27654	0.579000	0.29504	0.655000	0.94253	CGC	COL22A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000169436		0.716	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	59	0.00	0	C	XM_291257		139890151	139890151	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.000	T
CYP20A1	57404	genome.wustl.edu	37	2	204137424	204137424	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr2:204137424A>G	ENST00000356079.4	+	6	755	c.632A>G	c.(631-633)gAt>gGt	p.D211G	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.D219G	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	211						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GGCTTTCTAGATGGGTCACTT	0.308																																						dbGAP											0													44.0	47.0	46.0					2																	204137424		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.632A>G	2.37:g.204137424A>G	ENSP00000348380:p.Asp211Gly		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	p.D211G	ENST00000356079.4	37	c.632	CCDS2357.1	2	.	.	.	.	.	.	.	.	.	.	A	8.550	0.875249	0.17395	.	.	ENSG00000119004	ENST00000356079;ENST00000429815	T;T	0.69040	-0.34;-0.37	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.34521	1.04	0.80722	D	1	P;B	0.46142	0.873;0.009	P;B	0.44860	0.462;0.02	T	0.58244	-0.7670	10	0.25751	T	0.34	-17.2856	15.8106	0.78561	1.0:0.0:0.0:0.0	.	219;211	E9PHG5;Q6UW02	.;CP20A_HUMAN	G	211;219	ENSP00000348380:D211G;ENSP00000407860:D219G	ENSP00000348380:D211G	D	+	2	0	CYP20A1	203845669	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	7.616000	0.83018	2.129000	0.65627	0.524000	0.50904	GAT	CYP20A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000119004		0.308	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP20A1	HGNC	protein_coding	OTTHUMT00000256328.3	33	0.00	0	A	NM_020674		204137424	204137424	+1	no_errors	ENST00000356079	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	G
DPF2	5977	genome.wustl.edu	37	11	65116380	65116380	+	Silent	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr11:65116380G>A	ENST00000528416.1	+	10	1210	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	DPF2_ENST00000415073.2_Silent_p.P175P|DPF2_ENST00000252268.4_Silent_p.P373P	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	359					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.P359P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GTCTCACCCCGTCCATGTCTG	0.448																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											183.0	149.0	161.0					11																	65116380		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1077G>A	11.37:g.65116380G>A			A8K7C9|B4DT58	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.P359	ENST00000528416.1	37	c.1077	CCDS8100.1	11																																																																																			DPF2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000133884		0.448	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	174	0.57	1	G	NM_006268		65116380	65116380	+1	no_errors	ENST00000528416	ensembl	human	known	69_37n	silent	152	32.74	74	SNP	0.489	A
DYSF	8291	genome.wustl.edu	37	2	71744138	71744138	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr2:71744138T>C	ENST00000258104.3	+	9	1152	c.875T>C	c.(874-876)cTc>cCc	p.L292P	DYSF_ENST00000409366.1_Missense_Mutation_p.L293P|DYSF_ENST00000429174.2_Missense_Mutation_p.L292P|DYSF_ENST00000409762.1_Missense_Mutation_p.L323P|DYSF_ENST00000409651.1_Missense_Mutation_p.L324P|DYSF_ENST00000410041.1_Missense_Mutation_p.L324P|DYSF_ENST00000413539.2_Missense_Mutation_p.L323P|DYSF_ENST00000409744.1_Missense_Mutation_p.L293P|DYSF_ENST00000409582.3_Missense_Mutation_p.L323P|DYSF_ENST00000394120.2_Missense_Mutation_p.L293P|DYSF_ENST00000410020.3_Missense_Mutation_p.L324P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	292	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCGTTCTCTCAGGACAGAT	0.512																																						dbGAP											0													206.0	179.0	188.0					2																	71744138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.875T>C	2.37:g.71744138T>C	ENSP00000258104:p.Leu292Pro		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.L323P	ENST00000258104.3	37	c.968	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013045	0.35511	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	4.6	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.149175	0.46442	D	0.000295	T	0.77545	0.4146	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23490	0.009;0.009;0.009;0.009;0.018;0.018;0.018;0.012;0.009;0.086;0.001;0.001;0.009;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29663	0.025;0.025;0.015;0.015;0.105;0.065;0.065;0.096;0.015;0.096;0.011;0.015;0.015;0.026	T	0.73889	-0.3840	10	0.87932	D	0	-20.7371	9.787	0.40681	0.0:0.0:0.1737:0.8263	.	324;324;293;293;324;293;323;292;323;323;292;292;293;292	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	P	323;323;323;292;292;324;293;293;293;324;324	ENSP00000407046:L323P;ENSP00000387137:L323P;ENSP00000386547:L323P;ENSP00000398305:L292P;ENSP00000258104:L292P;ENSP00000386683:L324P;ENSP00000377678:L293P;ENSP00000386285:L293P;ENSP00000386512:L293P;ENSP00000386881:L324P;ENSP00000386617:L324P	ENSP00000258104:L292P	L	+	2	0	DYSF	71597646	1.000000	0.71417	0.992000	0.48379	0.797000	0.45037	5.012000	0.64017	0.874000	0.35823	0.448000	0.29417	CTC	DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000135636		0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	264	0.00	0	T	NM_003494		71744138	71744138	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	156	38.82	99	SNP	1.000	C
EEF2K	29904	genome.wustl.edu	37	16	22237102	22237103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr16:22237102_22237103insC	ENST00000263026.5	+	2	526_527	c.52_53insC	c.(52-54)tccfs	p.S18fs		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	18					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGGCGGCCAGTCCCCCCGAGCT	0.574																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.58dupC	16.37:g.22237108_22237108dupC	ENSP00000263026:p.Ser18fs		Q8N588	Frame_Shift_Ins	INS	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.R20fs	ENST00000263026.5	37	c.52_53	CCDS10604.1	16																																																																																			EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.574	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	46	0.00	0	-	NM_013302		22237102	22237103	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	frame_shift_ins	85	14.14	14	INS	0.000:0.001	C
EPHB1	2047	genome.wustl.edu	37	3	134880927	134880927	+	Missense_Mutation	SNP	G	G	A	rs201303544		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr3:134880927G>A	ENST00000398015.3	+	7	1860	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	EPHB1_ENST00000493838.1_Missense_Mutation_p.R58Q	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	497	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GATGGGCTGCGGCCTGGCATG	0.532																																						dbGAP											0													103.0	110.0	108.0					3																	134880927		2137	4255	6392	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1490G>A	3.37:g.134880927G>A	ENSP00000381097:p.Arg497Gln		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R497Q	ENST00000398015.3	37	c.1490	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284873	0.80803	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.57752	0.38;0.38	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.42529	1.33	0.52099	D	0.99994	P	0.46220	0.874	B	0.32090	0.14	T	0.53486	-0.8432	10	0.62326	D	0.03	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	497	P54762	EPHB1_HUMAN	Q	497;58	ENSP00000381097:R497Q;ENSP00000419574:R58Q	ENSP00000381097:R497Q	R	+	2	0	EPHB1	136363617	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.797000	0.55514	2.884000	0.98904	0.655000	0.94253	CGG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.532	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	184	0.00	0	G	NM_004441		134880927	134880927	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	106	36.53	61	SNP	0.998	A
F8	2157	genome.wustl.edu	37	X	154194350	154194350	+	Silent	SNP	T	T	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chrX:154194350T>A	ENST00000360256.4	-	9	1538	c.1338A>T	c.(1336-1338)cgA>cgT	p.R446R	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	446	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGCCATAAATCGGACTTTTT	0.388																																						dbGAP											0													142.0	125.0	131.0					X																	154194350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1338A>T	X.37:g.154194350T>A			Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R446	ENST00000360256.4	37	c.1338	CCDS35457.1	X																																																																																			F8	-	superfamily_Cupredoxin	ENSG00000185010		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	335	0.00	0	T			154194350	154194350	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	silent	147	38.75	93	SNP	0.086	A
NUTM2A	728118	genome.wustl.edu	37	10	88988115	88988115	+	Missense_Mutation	SNP	G	G	A	rs200168540	byFrequency	TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr10:88988115G>A	ENST00000381707.2	+	2	861	c.478G>A	c.(478-480)Gca>Aca	p.A160T	NUTM2A_ENST00000381689.4_Missense_Mutation_p.A160T|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	160				A -> T (in Ref. 1; BAC23116). {ECO:0000305}.													TCCCGGCCCAGCACACGGGCC	0.677																																						dbGAP											0													9.0	11.0	10.0					10																	88988115		1199	3080	4279	-	-	-	SO:0001583	missense	0				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.478G>A	10.37:g.88988115G>A	ENSP00000371126:p.Ala160Thr		A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	NULL	p.A160T	ENST00000381707.2	37	c.478	CCDS44452.1	10	.	.	.	.	.	.	.	.	.	.	g	5.987	0.366044	0.11352	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.24151	1.87;1.87	1.29	0.214	0.15249	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.16811	0.0404	L	0.38531	1.155	0.80722	P	0.0	B	0.14012	0.009	B	0.17098	0.017	T	0.24621	-1.0155	8	0.27082	T	0.32	.	5.55	0.17086	0.0:0.4213:0.5787:0.0	.	160	Q8IVF1	FA22A_HUMAN	T	160;160;87	ENSP00000371107:A160T;ENSP00000371126:A160T	ENSP00000371107:A160T	A	+	1	0	FAM22A	88978095	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.329000	0.07935	0.096000	0.17463	0.374000	0.22700	GCA	FAM22A	-	NULL	ENSG00000184923		0.677	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM22A	HGNC	protein_coding	OTTHUMT00000049198.2	18	0.00	0	G	NM_001099338		88988115	88988115	+1	no_errors	ENST00000381707	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.003	A
FRG1B	284802	genome.wustl.edu	37	20	29632632	29632632	+	Silent	SNP	A	A	G	rs73598387		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr20:29632632A>G	ENST00000278882.3	+	8	827	c.447A>G	c.(445-447)caA>caG	p.Q149Q	FRG1B_ENST00000358464.4_Silent_p.Q149Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	149										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAGCTTCCAAGACCACAAAC	0.299													.|||	1	0.000199681	0.0008	0.0	5008	,	,		25660	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.447A>G	20.37:g.29632632A>G			C4AME5	Silent	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.Q149	ENST00000278882.3	37	c.447		20																																																																																			FRG1B	-	pfam_FRG1	ENSG00000149531		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	55	0.00	0	A	NR_003579		29632632	29632632	+1	no_errors	ENST00000278882	ensembl	human	known	69_37n	silent	26	10.34	3	SNP	1.000	G
HIRA	7290	genome.wustl.edu	37	22	19349345	19349345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr22:19349345G>A	ENST00000263208.5	-	16	2141	c.1885C>T	c.(1885-1887)Cga>Tga	p.R629*	HIRA_ENST00000546308.1_Nonsense_Mutation_p.R585*|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Nonsense_Mutation_p.R585*	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	629	Interaction with CCNA1.|Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCAAGTTTTCGCTTGGACAGT	0.542																																						dbGAP											0													160.0	150.0	153.0					22																	19349345		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1885C>T	22.37:g.19349345G>A	ENSP00000263208:p.Arg629*		Q05BU9|Q8IXN2	Nonsense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R629*	ENST00000263208.5	37	c.1885	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	38	7.240903	0.98157	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	.	.	.	5.3	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6247	13.166	0.59571	0.0:0.0:0.7123:0.2877	.	.	.	.	X	629;585;138;585	.	ENSP00000263208:R629X	R	-	1	2	HIRA	17729345	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.102000	0.41796	1.455000	0.47813	-0.320000	0.08662	CGA	HIRA	-	NULL	ENSG00000100084		0.542	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	140	0.00	0	G	NM_003325		19349345	19349345	-1	no_errors	ENST00000263208	ensembl	human	known	69_37n	nonsense	74	42.31	55	SNP	1.000	A
IGLV8-61	28774	genome.wustl.edu	37	22	22453360	22453360	+	RNA	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr22:22453360G>A	ENST00000390283.2	+	0	152									immunoglobulin lambda variable 8-61																		ATCGTTCTCAGTGTCCCCTGG	0.542																																						dbGAP											0													76.0	79.0	78.0					22																	22453360		2028	4182	6210	-	-	-			0			Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453360G>A				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V36M	ENST00000390283.2	37	c.106		22																																																																																			IGLV8-61	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000211638		0.542	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV8-61	HGNC	IG_V_gene	OTTHUMT00000320321.1	206	0.00	0	G	NG_000002		22453360	22453360	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390283	ensembl	human	known	69_37n	missense	134	38.25	83	SNP	0.001	A
IRS1	3667	genome.wustl.edu	37	2	227661663	227661664	+	Frame_Shift_Ins	INS	-	-	C	rs552502879		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr2:227661663_227661664insC	ENST00000305123.5	-	1	2811_2812	c.1791_1792insG	c.(1789-1794)gggcacfs	p.H598fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	598					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H598fs*13(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGTGGTGCCCCCCCCGAC	0.683											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1792dupG	2.37:g.227661671_227661671dupC	ENSP00000304895:p.His598fs	2321		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.H597fs	ENST00000305123.5	37	c.1792_1791	CCDS2463.1	2																																																																																			IRS1	-	NULL	ENSG00000169047		0.683	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	12	0.00	0	-	NM_005544		227661663	227661664	-1	no_errors	ENST00000305123	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	1.000:0.995	C
KIRREL	55243	genome.wustl.edu	37	1	158061187	158061187	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr1:158061187C>A	ENST00000359209.6	+	11	1379	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M	KIRREL_ENST00000392272.2_Missense_Mutation_p.L335M|KIRREL_ENST00000368172.1_Missense_Mutation_p.L252M|KIRREL_ENST00000368173.3_Missense_Mutation_p.L454M|KIRREL_ENST00000416935.2_Missense_Mutation_p.L338M|KIRREL_ENST00000360089.4_Missense_Mutation_p.L274M			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	438	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGTGGGGACCCTGGAACGCTA	0.567																																						dbGAP											0													104.0	101.0	102.0					1																	158061187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1312C>A	1.37:g.158061187C>A	ENSP00000352138:p.Leu438Met		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L454M	ENST00000359209.6	37	c.1360	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925036	0.52759	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04	5.13	3.26	0.37387	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33980	N	0.004370	T	0.03011	0.0089	M	0.63843	1.955	0.34404	D	0.695633	P;P;P;P	0.45768	0.788;0.866;0.835;0.689	P;B;B;B	0.46825	0.528;0.442;0.342;0.175	T	0.43032	-0.9416	10	0.46703	T	0.11	-18.1879	9.5648	0.39391	0.0:0.8269:0.0:0.1731	.	338;274;252;438	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	M	274;454;335;438;338;252	ENSP00000353202:L274M;ENSP00000357155:L454M;ENSP00000376098:L335M;ENSP00000352138:L438M;ENSP00000389674:L338M;ENSP00000357154:L252M	ENSP00000352138:L438M	L	+	1	2	KIRREL	156327811	0.840000	0.29493	0.998000	0.56505	0.971000	0.66376	1.283000	0.33237	0.667000	0.31107	0.563000	0.77884	CTG	KIRREL	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000183853		0.567	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	102	0.00	0	C	NM_018240		158061187	158061187	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	missense	88	31.78	41	SNP	1.000	A
LYSMD4	145748	genome.wustl.edu	37	15	100271565	100271565	+	Intron	SNP	T	T	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr15:100271565T>C	ENST00000409796.1	-	2	345				LYSMD4_ENST00000344791.2_Missense_Mutation_p.Y86C|LYSMD4_ENST00000332728.4_Intron|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_5'UTR	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4							integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AAGCATACCATAGAAATCCGG	0.378																																						dbGAP											0													135.0	146.0	142.0					15																	100271565		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.282+357A>G	15.37:g.100271565T>C			A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	NULL	p.Y86C	ENST00000409796.1	37	c.257		15	.	.	.	.	.	.	.	.	.	.	T	4.231	0.041735	0.08196	.	.	ENSG00000183060	ENST00000344791;ENST00000450512	T	0.23348	1.91	4.31	1.81	0.25067	.	0.341047	0.29609	N	0.011673	T	0.11024	0.0269	N	0.08118	0	0.24558	N	0.993986	B	0.02656	0.0	B	0.06405	0.002	T	0.17776	-1.0358	10	0.56958	D	0.05	-0.5585	4.7756	0.13178	0.6176:0.1848:0.0:0.1976	.	86	Q5XG99-2	.	C	86;81	ENSP00000342840:Y86C	ENSP00000342840:Y86C	Y	-	2	0	LYSMD4	98089088	0.001000	0.12720	0.007000	0.13788	0.025000	0.11179	0.402000	0.20965	0.217000	0.20800	-0.339000	0.08088	TAT	LYSMD4	-	NULL	ENSG00000183060		0.378	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	93	0.00	0	T	NM_152449		100271565	100271565	-1	no_errors	ENST00000344791	ensembl	human	known	69_37n	missense	34	45.16	28	SNP	0.023	C
MAP3K1	4214	genome.wustl.edu	37	5	56155572	56155572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr5:56155572delG	ENST00000399503.3	+	3	664	c.664delG	c.(664-666)ggafs	p.G222fs	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	222					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAAAGGAGATGGATCTGAAAT	0.408																																						dbGAP											0													40.0	39.0	40.0					5																	56155572		1897	4124	6021	-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.664delG	5.37:g.56155572delG	ENSP00000382423:p.Gly222fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.G222fs	ENST00000399503.3	37	c.664	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.408	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	91	0.00	0	G	XM_042066		56155572	56155572	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	27	42.55	20	DEL	1.000	-
MST1L	11223	genome.wustl.edu	37	1	17084538	17084538	+	RNA	SNP	G	G	C	rs142741624		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr1:17084538G>C	ENST00000455405.2	-	0	351							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GTGGGTTCTGGAACAGGGTGC	0.587																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084538G>C			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.F520L	ENST00000455405.2	37	c.1560		1	.	.	.	.	.	.	.	.	.	.	.	5.719	0.317113	0.10845	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.366990	0.19670	N	0.108768	T	0.38639	0.1048	.	.	.	.	.	.	D;P	0.71674	0.998;0.884	P;P	0.61201	0.885;0.643	T	0.47736	-0.9094	6	0.11182	T	0.66	.	2.6652	0.05046	0.5:0.0:0.5:0.0	.	520;546	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	515;520;546	.	ENSP00000439273:F520L	F	-	3	2	MST1P9	16957125	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.738000	0.26158	-0.000000	0.14550	0.000000	0.15137	TTC	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.587	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	143	0.00	0	G	NM_001271733		17084538	17084538	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	108	14.29	18	SNP	1.000	C
MTF1	4520	genome.wustl.edu	37	1	38289483	38289483	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr1:38289483G>A	ENST00000373036.4	-	8	1210	c.1070C>T	c.(1069-1071)aCc>aTc	p.T357I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	357					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGCCCTGGGTCTGATGGAG	0.418																																						dbGAP											0													119.0	101.0	108.0					1																	38289483		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1069-1C>T	1.37:g.38289483G>A			B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T357I	ENST00000373036.4	37	c.1070	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157077	0.38119	.	.	ENSG00000188786	ENST00000373036	T	0.10668	2.85	5.3	4.38	0.52667	.	0.301678	0.36972	N	0.002301	T	0.11537	0.0281	L	0.57536	1.79	0.80722	D	1	B	0.19445	0.036	B	0.19148	0.024	T	0.05716	-1.0868	10	0.51188	T	0.08	.	6.8916	0.24232	0.154:0.1447:0.7013:0.0	.	357	Q14872	MTF1_HUMAN	I	357	ENSP00000362127:T357I	ENSP00000362127:T357I	T	-	2	0	MTF1	38062070	1.000000	0.71417	0.066000	0.19879	0.252000	0.25951	3.683000	0.54663	1.238000	0.43771	0.563000	0.77884	ACC	MTF1	-	NULL	ENSG00000188786		0.418	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	130	0.00	0	G	NM_005955	Missense_Mutation	38289483	38289483	-1	no_errors	ENST00000373036	ensembl	human	known	69_37n	missense	95	35.37	52	SNP	0.073	A
MTMR9	66036	genome.wustl.edu	37	8	11180161	11180162	+	Frame_Shift_Ins	INS	-	-	TT	rs181568173		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr8:11180161_11180162insTT	ENST00000221086.3	+	10	1987_1988	c.1514_1515insTT	c.(1513-1518)tctaagfs	p.K506fs	MTMR9_ENST00000526292.1_Frame_Shift_Ins_p.K421fs|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	506						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AATAGATCCTCTAAGTATTTGG	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	Exception_encountered	8.37:g.11180161_11180162insTT	ENSP00000221086:p.Lys506fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Ins	INS	pfam_Myotub-related	p.K506fs	ENST00000221086.3	37	c.1514_1515	CCDS5979.1	8																																																																																			MTMR9	-	NULL	ENSG00000104643		0.322	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	69	0.00	0	-	NM_015458		11180161	11180162	+1	no_errors	ENST00000221086	ensembl	human	known	69_37n	frame_shift_ins	6	79.31	23	INS	1.000:0.993	TT
MYB	4602	genome.wustl.edu	37	6	135521223	135521223	+	Splice_Site	DEL	T	T	-			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr6:135521223delT	ENST00000367814.4	+	11	1533	c.1347delT	c.(1345-1347)gtt>gt	p.V449fs	MYB_ENST00000527615.1_Splice_Site_p.V449fs|MYB_ENST00000534121.1_Splice_Site_p.V554fs|MYB_ENST00000316528.8_Splice_Site_p.V449fs|MYB_ENST00000442647.2_Splice_Site_p.V446fs|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Splice_Site_p.V414fs|MYB_ENST00000525369.1_Splice_Site_p.V364fs|MYB_ENST00000534044.1_Splice_Site_p.V449fs|MYB_ENST00000341911.5_Splice_Site_p.V570fs|MYB_ENST00000528774.1_Splice_Site_p.V567fs	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	449	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTTTTTAAAGTTTTAGAACCC	0.353			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													62.0	66.0	65.0					6																	135521223		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1347-1T>-	6.37:g.135521223delT			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Frame_Shift_Del	DEL	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.F571fs	ENST00000367814.4	37	c.1710	CCDS5174.1	6																																																																																			MYB	-	pfam_C-myb_C	ENSG00000118513		0.353	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	52	0.00	0	T		Frame_Shift_Del	135521223	135521223	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	frame_shift_del	23	30.30	10	DEL	1.000	-
PALD1	27143	genome.wustl.edu	37	10	72298084	72298084	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr10:72298084C>T	ENST00000263563.6	+	12	1640	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	458						cytosol (GO:0005829)											GTGTGCCCACCCTGAGCTGTA	0.652																																						dbGAP											0													54.0	45.0	48.0					10																	72298084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1372C>T	10.37:g.72298084C>T	ENSP00000263563:p.Pro458Ser		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.P458S	ENST00000263563.6	37	c.1372	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	c	18.49	3.635785	0.67130	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.30448	1.53	4.31	3.41	0.39046	.	0.114504	0.64402	D	0.000012	T	0.42494	0.1205	M	0.76838	2.35	0.49915	D	0.999836	P	0.45672	0.864	P	0.48454	0.578	T	0.39121	-0.9629	10	0.39692	T	0.17	-14.9614	12.1768	0.54190	0.0:0.9151:0.0:0.0849	.	458	Q9ULE6	PALD_HUMAN	S	458	ENSP00000263563:P458S	ENSP00000263563:P458S	P	+	1	0	KIAA1274	71968090	0.137000	0.22531	0.984000	0.44739	0.978000	0.69477	0.939000	0.28978	1.019000	0.39547	0.561000	0.74099	CCT	PALD1	-	NULL	ENSG00000107719		0.652	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	21	0.00	0	C	NM_014431		72298084	72298084	+1	no_errors	ENST00000263563	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	1.000	T
PAX2	5076	genome.wustl.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	p.V25fs	ENST00000428433.1	37	c.69_70	CCDS53569.1	10																																																																																			PAX2	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000075891		0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	PAX2	HGNC	protein_coding		28	0.00	0	-			102509528	102509529	+1	no_errors	ENST00000370296	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	G
PHEX	5251	genome.wustl.edu	37	X	22245690	22245690	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chrX:22245690T>A	ENST00000379374.4	+	20	2597	c.2032T>A	c.(2032-2034)Ttc>Atc	p.F678I	PHEX_ENST00000535894.1_Missense_Mutation_p.F581I|PHEX_ENST00000537599.1_Missense_Mutation_p.F678I|PHEX_ENST00000418858.3_Missense_Mutation_p.F381I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	678					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGGCATCACATTCACCAACAA	0.483																																						dbGAP											0													143.0	102.0	116.0					X																	22245690		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.2032T>A	X.37:g.22245690T>A	ENSP00000368682:p.Phe678Ile		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.F678I	ENST00000379374.4	37	c.2032	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297843	0.60086	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.162432	0.56097	D	0.000026	T	0.80757	0.4684	L	0.58428	1.81	0.38055	D	0.935916	P;P	0.40144	0.655;0.704	B;B	0.39217	0.194;0.294	D	0.83960	0.0321	10	0.59425	D	0.04	.	13.0068	0.58710	0.0:0.0:0.0:1.0	.	678;678	F5GXU4;P78562	.;PHEX_HUMAN	I	678;678;581;381	ENSP00000368682:F678I;ENSP00000440362:F678I;ENSP00000439418:F581I;ENSP00000443531:F381I	ENSP00000368682:F678I	F	+	1	0	PHEX	22155611	1.000000	0.71417	0.935000	0.37517	0.779000	0.44077	3.772000	0.55325	1.786000	0.52430	0.486000	0.48141	TTC	PHEX	-	pfam_Peptidase_M13_C	ENSG00000102174		0.483	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	316	0.00	0	T	NM_000444		22245690	22245690	+1	no_errors	ENST00000379374	ensembl	human	known	69_37n	missense	159	31.17	72	SNP	0.936	A
PRF1	5551	genome.wustl.edu	37	10	72358324	72358324	+	Missense_Mutation	SNP	G	G	A	rs551046401	byFrequency	TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr10:72358324G>A	ENST00000441259.1	-	3	1313	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	PRF1_ENST00000373209.2_Missense_Mutation_p.R385W	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	385	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.R385W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCTTCTGCCGCCCTGGTGGG	0.711			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				G|||	2	0.000399361	0.0	0.0	5008	,	,		16186	0.002		0.0	False		,,,				2504	0.0					dbGAP	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	1	Substitution - Missense(1)	central_nervous_system(1)											16.0	19.0	18.0					10																	72358324		2196	4293	6489	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1153C>T	10.37:g.72358324G>A	ENSP00000398568:p.Arg385Trp		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R385W	ENST00000441259.1	37	c.1153	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463388	0.26248	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.95656	-3.77;-3.77	5.83	1.57	0.23409	C2 calcium/lipid-binding domain, CaLB (1);	0.917298	0.09433	N	0.802863	D	0.89410	0.6707	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	B	0.44163	0.443	T	0.81805	-0.0764	10	0.66056	D	0.02	-19.3324	9.5813	0.39490	0.0:0.1301:0.3359:0.534	.	385	P14222	PERF_HUMAN	W	385	ENSP00000362305:R385W;ENSP00000398568:R385W	ENSP00000316746:R385W	R	-	1	2	PRF1	72028330	0.003000	0.15002	0.060000	0.19600	0.042000	0.13812	0.052000	0.14163	0.333000	0.23563	0.655000	0.94253	CGG	PRF1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000180644		0.711	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	30	0.00	0	G	NM_005041		72358324	72358324	-1	no_errors	ENST00000318971	ensembl	human	known	69_37n	missense	10	38.89	7	SNP	0.039	A
RGL4	266747	genome.wustl.edu	37	22	24040406	24040406	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr22:24040406G>A	ENST00000290691.5	+	10	2438	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	RGL4_ENST00000401461.1_Missense_Mutation_p.R287Q|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000460167.1_3'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	423	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TAGGAGGTCCGAGTTCTGCAG	0.567																																						dbGAP											0													40.0	40.0	40.0					22																	24040406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1268G>A	22.37:g.24040406G>A	ENSP00000290691:p.Arg423Gln		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.R423Q	ENST00000290691.5	37	c.1268	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	N	11.36	1.616252	0.28801	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.30981	1.51;1.51;1.51	1.97	-3.38	0.04883	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	2.738420	0.01963	N	0.043464	T	0.47507	0.1449	L	0.60455	1.87	0.09310	N	1	P;P;D;P	0.71674	0.78;0.78;0.998;0.78	B;B;D;B	0.66084	0.325;0.325;0.941;0.417	T	0.50583	-0.8811	10	0.51188	T	0.08	.	7.6771	0.28492	0.5497:0.0:0.4503:0.0	.	287;287;423;423	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	Q	287;423;423;423	ENSP00000383951:R287Q;ENSP00000290691:R423Q;ENSP00000402142:R423Q	ENSP00000290691:R423Q	R	+	2	0	RGL4	22370406	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.251000	0.51453	-0.955000	0.03636	-0.447000	0.05616	CGA	RGL4	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000159496		0.567	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	81	0.00	0	G	NM_153615		24040406	24040406	+1	no_errors	ENST00000290691	ensembl	human	known	69_37n	missense	20	56.52	26	SNP	0.068	A
SBF1	6305	genome.wustl.edu	37	22	50898755	50898756	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr22:50898755_50898756insG	ENST00000390679.3	-	25	3412_3413	c.3228_3229insC	c.(3226-3231)cccagcfs	p.S1077fs	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Frame_Shift_Ins_p.S1078fs|SBF1_ENST00000380817.3_Frame_Shift_Ins_p.S1077fs			O95248	MTMR5_HUMAN	SET binding factor 1	1077					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTGT	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3229dupC	22.37:g.50898762_50898762dupG	ENSP00000375097:p.Ser1077fs		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Ins	INS	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S1076fs	ENST00000390679.3	37	c.3229_3228		22																																																																																			SBF1	-	NULL	ENSG00000100241		0.644	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		55	0.00	0	-			50898755	50898756	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.053:0.039	G
SCYL1	57410	genome.wustl.edu	37	11	65305349	65305349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr11:65305349C>T	ENST00000270176.5	+	15	2106	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	SCYL1_ENST00000524944.1_Nonsense_Mutation_p.Q677*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.Q534*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.Q677*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.Q660*|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.Q677*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.Q676*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	677					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCGTGCTAGTCAGGTGAGCTG	0.642																																						dbGAP											0													121.0	135.0	130.0					11																	65305349		2048	4181	6229	-	-	-	SO:0001587	stop_gained	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.2029C>T	11.37:g.65305349C>T	ENSP00000270176:p.Gln677*		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.Q677*	ENST00000270176.5	37	c.2029	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231708	0.39399	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	.	.	.	3.97	0.674	0.17946	.	1.299240	0.05243	N	0.512596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-9.389	5.6176	0.17440	0.3918:0.4168:0.1914:0.0	.	.	.	.	X	677;676;660;677;677;677;534;149	.	ENSP00000270176:Q677X	Q	+	1	0	SCYL1	65061925	0.081000	0.21417	0.732000	0.30844	0.046000	0.14306	0.677000	0.25262	0.785000	0.33685	0.561000	0.74099	CAG	SCYL1	-	NULL	ENSG00000142186		0.642	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	364	0.00	0	C	NM_020680		65305349	65305349	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	nonsense	168	37.55	101	SNP	0.067	T
SF3B4	10262	genome.wustl.edu	37	1	149895561	149895562	+	Frame_Shift_Ins	INS	-	-	G	rs387907187|rs387907186		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr1:149895561_149895562insG	ENST00000271628.8	-	6	1731_1732	c.1147_1148insC	c.(1147-1149)catfs	p.H383fs		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	383					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H383fs*>43(1)|p.H383fs*>42(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGTGTATCCATGGGGGGGCATC	0.624																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)								12,4250		0,12,2119						4.5	1.0			21	13,8231		0,13,4109	no	frameshift	SF3B4	NM_005850.4		0,25,6228	A1A1,A1R,RR		0.1577,0.2816,0.1999				25,12481				-	-	-	SO:0001589	frameshift_variant	0			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1148dupC	1.37:g.149895568_149895568dupG	ENSP00000271628:p.His383fs		Q5SZ63	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H383fs	ENST00000271628.8	37	c.1148_1147	CCDS941.1	1																																																																																			SF3B4	-	NULL	ENSG00000143368		0.624	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	21	0.00	0	-	NM_005850		149895561	149895562	-1	no_errors	ENST00000271628	ensembl	human	known	69_37n	frame_shift_ins	31	16.22	6	INS	1.000:1.000	G
SLC22A11	55867	genome.wustl.edu	37	11	64323714	64323714	+	Silent	SNP	G	G	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr11:64323714G>T	ENST00000301891.4	+	1	617	c.243G>T	c.(241-243)ggG>ggT	p.G81G	SLC22A11_ENST00000377581.3_Silent_p.G81G|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.G81G	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	81					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCAACCAGGGGCCCCACCAGT	0.647											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													70.0	79.0	76.0					11																	64323714		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.243G>T	11.37:g.64323714G>T		1075	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G81	ENST00000301891.4	37	c.243	CCDS8074.1	11																																																																																			SLC22A11	-	NULL	ENSG00000168065		0.647	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4	28	0.00	0	G	NM_018484		64323714	64323714	+1	no_errors	ENST00000301891	ensembl	human	known	69_37n	silent	17	39.39	13	SNP	0.011	T
SLC35B2	347734	genome.wustl.edu	37	6	44223035	44223035	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr6:44223035T>G	ENST00000393812.3	-	4	850	c.707A>C	c.(706-708)gAa>gCa	p.E236A	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E143A|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E103A|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	236					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCCAGTGTTCGTAGCTGCG	0.592																																						dbGAP											0													80.0	78.0	78.0					6																	44223035		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.707A>C	6.37:g.44223035T>G	ENSP00000377401:p.Glu236Ala		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.E236A	ENST00000393812.3	37	c.707	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	t	20.9	4.060896	0.76074	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.69040	-0.37;-0.37;-0.37	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	M	0.64404	1.975	0.80722	D	1	P;D	0.56035	0.616;0.974	B;P	0.58331	0.343;0.837	T	0.64901	-0.6298	10	0.16896	T	0.51	-3.3776	15.6932	0.77473	0.0:0.0:0.0:1.0	.	143;236	F5H7Y9;Q8TB61	.;S35B2_HUMAN	A	236;103;143;236	ENSP00000377401:E236A;ENSP00000440340:E103A;ENSP00000443845:E143A	ENSP00000342455:E236A	E	-	2	0	SLC35B2	44331013	1.000000	0.71417	0.980000	0.43619	0.956000	0.61745	8.024000	0.88770	2.120000	0.65058	0.450000	0.29827	GAA	SLC35B2	-	pfam_UAA	ENSG00000157593		0.592	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	137	0.00	0	T			44223035	44223035	-1	no_errors	ENST00000393812	ensembl	human	known	69_37n	missense	51	52.78	57	SNP	1.000	G
TBX3	6926	genome.wustl.edu	37	12	115109800	115109800	+	Frame_Shift_Del	DEL	T	T	-	rs376267079		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr12:115109800delT	ENST00000257566.3	-	8	2467	c.2078delA	c.(2077-2079)aacfs	p.N693fs	TBX3_ENST00000349155.2_Frame_Shift_Del_p.N673fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	693	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGAGCGGCTGTTGAGTTCAGA	0.701																																						dbGAP											0													21.0	18.0	19.0					12																	115109800		2197	4298	6495	-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2078delA	12.37:g.115109800delT	ENSP00000257566:p.Asn693fs		Q8TB20|Q9UKF8	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.N693fs	ENST00000257566.3	37	c.2078	CCDS9176.1	12																																																																																			TBX3	-	NULL	ENSG00000135111		0.701	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	44	0.00	0	T	NM_016569, NM_005996		115109800	115109800	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_del	18	36.36	12	DEL	1.000	-
TLR2	7097	genome.wustl.edu	37	4	154624747	154624747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr4:154624747C>T	ENST00000260010.6	+	1	2096	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	230					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.R230*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTTGGAACTGCGAGATACTGA	0.338																																						dbGAP											1	Substitution - Nonsense(1)	central_nervous_system(1)											81.0	78.0	79.0					4																	154624747		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.688C>T	4.37:g.154624747C>T	ENSP00000260010:p.Arg230*		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Nonsense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.R230*	ENST00000260010.6	37	c.688	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.634323	0.99684	.	.	ENSG00000137462	ENST00000260010	.	.	.	5.6	1.84	0.25277	.	0.365934	0.30649	N	0.009180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7552	0.34641	0.5495:0.3846:0.0659:0.0	.	.	.	.	X	230	.	ENSP00000260010:R230X	R	+	1	2	TLR2	154844197	1.000000	0.71417	0.532000	0.27989	0.016000	0.09150	1.508000	0.35769	0.149000	0.19098	-0.271000	0.10264	CGA	TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	93	0.00	0	C			154624747	154624747	+1	no_errors	ENST00000260010	ensembl	human	known	69_37n	nonsense	56	24.32	18	SNP	0.683	T
TMOD1	7111	genome.wustl.edu	37	9	100308545	100308545	+	Missense_Mutation	SNP	C	C	A	rs377402545		TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr9:100308545C>A	ENST00000259365.4	+	3	412	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	TMOD1_ENST00000395211.2_Missense_Mutation_p.L67I	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	67	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		AAGAGAGGAGCTCTTGGATCA	0.522																																						dbGAP											0													92.0	99.0	97.0					9																	100308545		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.199C>A	9.37:g.100308545C>A	ENSP00000259365:p.Leu67Ile		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	pfam_Tropomodulin	p.L67I	ENST00000259365.4	37	c.199	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	C	30	5.053808	0.93793	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	T;T	0.52983	0.64;0.64	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.74215	0.3687	M	0.88181	2.935	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.79806	-0.1648	10	0.87932	D	0	-14.0493	17.6196	0.88077	0.0:1.0:0.0:0.0	.	67	P28289	TMOD1_HUMAN	I	67	ENSP00000378637:L67I;ENSP00000259365:L67I	ENSP00000259365:L67I	L	+	1	0	TMOD1	99348366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.578000	0.87016	0.655000	0.94253	CTC	TMOD1	-	pfam_Tropomodulin	ENSG00000136842		0.522	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	113	0.00	0	C	NM_003275		100308545	100308545	+1	no_errors	ENST00000259365	ensembl	human	known	69_37n	missense	84	30.58	37	SNP	1.000	A
TRIP11	9321	genome.wustl.edu	37	14	92436128	92436128	+	Silent	SNP	G	G	A			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr14:92436128G>A	ENST00000267622.4	-	21	6202	c.5829C>T	c.(5827-5829)ccC>ccT	p.P1943P		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1943					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GAAGATGCCCGGGCCCACCAG	0.502			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													63.0	66.0	65.0					14																	92436128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5829C>T	14.37:g.92436128G>A			B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.R1659W	ENST00000267622.4	37	c.4975	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	G	4.741	0.137780	0.09032	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.78	-1.12	0.09808	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	2.0432	0.03555	0.5016:0.12:0.2621:0.1164	.	.	.	.	W	1659	.	.	R	-	1	2	TRIP11	91505881	0.536000	0.26378	0.911000	0.35937	0.418000	0.31294	-0.142000	0.10311	-0.434000	0.07275	-0.253000	0.11424	CGG	TRIP11	-	NULL	ENSG00000100815		0.502	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	174	0.00	0	G			92436128	92436128	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000554357	ensembl	human	novel	69_37n	missense	129	23.21	39	SNP	0.940	A
TRPC4	7223	genome.wustl.edu	37	13	38237581	38237581	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr13:38237581A>T	ENST00000379705.3	-	6	2517	c.1660T>A	c.(1660-1662)Tgt>Agt	p.C554S	TRPC4_ENST00000379679.1_Missense_Mutation_p.C381S|TRPC4_ENST00000355779.2_Missense_Mutation_p.C554S|TRPC4_ENST00000379673.2_Missense_Mutation_p.C554S|TRPC4_ENST00000447043.1_Missense_Mutation_p.C554S|TRPC4_ENST00000338947.5_Missense_Mutation_p.C381S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.C554S|TRPC4_ENST00000379681.3_Missense_Mutation_p.C554S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	554					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCTTTTCACATCTTATGCCT	0.348																																						dbGAP											0													82.0	77.0	79.0					13																	38237581		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1660T>A	13.37:g.38237581A>T	ENSP00000369027:p.Cys554Ser		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.C554S	ENST00000379705.3	37	c.1660	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653091	0.88056	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85	6.08	6.08	0.98989	Ion transport (1);	0.123331	0.85682	D	0.000000	D	0.98541	0.9513	L	0.58969	1.84	0.80722	D	1	D;D;D;D;P;D	0.65815	0.986;0.995;0.989;0.991;0.855;0.975	P;P;D;D;P;D	0.75020	0.786;0.897;0.985;0.931;0.687;0.911	D	0.99556	1.0967	10	0.51188	T	0.08	-21.4459	16.6438	0.85155	1.0:0.0:0.0:0.0	.	554;554;554;381;554;554	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	554;554;381;381;554;554;554;554	ENSP00000369027:C554S;ENSP00000369003:C554S;ENSP00000342580:C381S;ENSP00000369001:C381S;ENSP00000348025:C554S;ENSP00000351264:C554S;ENSP00000368995:C554S;ENSP00000414316:C554S	ENSP00000342580:C381S	C	-	1	0	TRPC4	37135581	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	TGT	TRPC4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000133107		0.348	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	203	0.00	0	A	NM_003306		38237581	38237581	-1	no_errors	ENST00000379681	ensembl	human	known	69_37n	missense	79	40.60	54	SNP	1.000	T
UQCRFS1	7386	genome.wustl.edu	37	19	29698494	29698494	+	Silent	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr19:29698494C>T	ENST00000304863.4	-	2	1208	c.786G>A	c.(784-786)acG>acA	p.T262T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	262	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TGAACTCATACGTGGGGACTT	0.458																																						dbGAP											0													68.0	62.0	64.0					19																	29698494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.786G>A	19.37:g.29698494C>T			A8K519|Q6NVX5|Q9UPH2	Silent	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.T262	ENST00000304863.4	37	c.786	CCDS12415.1	19																																																																																			UQCRFS1	-	pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	ENSG00000169021		0.458	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1	197	0.00	0	C	NM_006003		29698494	29698494	-1	no_errors	ENST00000304863	ensembl	human	known	69_37n	silent	85	36.09	48	SNP	0.000	T
UXS1	80146	genome.wustl.edu	37	2	106761718	106761718	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr2:106761718C>T	ENST00000409501.3	-	6	442	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	UXS1_ENST00000540130.1_Missense_Mutation_p.V72M|UXS1_ENST00000283148.7_Missense_Mutation_p.V134M|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	129					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CAGTGCTCCACGTTTCTCTTC	0.522																																						dbGAP											0													103.0	103.0	103.0					2																	106761718		2021	4165	6186	-	-	-	SO:0001583	missense	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.385G>A	2.37:g.106761718C>T	ENSP00000387019:p.Val129Met		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.V134M	ENST00000409501.3	37	c.400	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.438564	0.96168	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.97034	0.9752	10	0.87932	D	0	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	134;129	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	M	134;72;129;72	ENSP00000283148:V134M;ENSP00000438265:V72M;ENSP00000387019:V129M;ENSP00000399316:V72M	ENSP00000283148:V134M	V	-	1	0	UXS1	106128150	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG	UXS1	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000115652		0.522	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	112	0.00	0	C	NM_025076.3		106761718	106761718	-1	no_errors	ENST00000283148	ensembl	human	known	69_37n	missense	77	31.25	35	SNP	1.000	T
XPOT	11260	genome.wustl.edu	37	12	64818467	64818467	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr12:64818467T>C	ENST00000332707.5	+	12	1800	c.1271T>C	c.(1270-1272)cTg>cCg	p.L424P		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	424					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTTACTACTGGCCTCTGTT	0.388																																						dbGAP											0													137.0	126.0	130.0					12																	64818467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1271T>C	12.37:g.64818467T>C	ENSP00000327821:p.Leu424Pro		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L424P	ENST00000332707.5	37	c.1271	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627439	0.66901	.	.	ENSG00000184575	ENST00000332707	T	0.71461	-0.57	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.82990	0.5157	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.83718	0.0191	9	.	.	.	-1.2189	15.7754	0.78209	0.0:0.0:0.0:1.0	.	424	O43592	XPOT_HUMAN	P	424	ENSP00000327821:L424P	.	L	+	2	0	XPOT	63104734	1.000000	0.71417	0.996000	0.52242	0.377000	0.30045	7.830000	0.86741	2.205000	0.71048	0.528000	0.53228	CTG	XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.388	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	166	0.00	0	T	NM_007235		64818467	64818467	+1	no_errors	ENST00000332707	ensembl	human	known	69_37n	missense	93	27.91	36	SNP	1.000	C
ZMYM3	9203	genome.wustl.edu	37	X	70467688	70467691	+	Frame_Shift_Del	DEL	AGTA	AGTA	-			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	AGTA	AGTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chrX:70467688_70467691delAGTA	ENST00000353904.2	-	12	2228_2231	c.2041_2044delTACT	c.(2041-2046)tactgcfs	p.YC681fs	ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.YC683fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.YC681fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.YC683fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.YC681fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	681					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTGGGAGCAGTAAGTACAAGTG	0.534																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2041_2044delTACT	X.37:g.70467692_70467695delAGTA	ENSP00000343909:p.Tyr681fs		D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.Y683fs	ENST00000353904.2	37	c.2050_2047	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_Znf_MYM,smart_TRASH	ENSG00000147130		0.534	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	107	0.00	0	AGTA	NM_201599		70467688	70467691	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	frame_shift_del	48	43.53	37	DEL	1.000:1.000:1.000:1.000	-
ZNF131	7690	genome.wustl.edu	37	5	43174806	43174806	+	Silent	SNP	A	A	G			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr5:43174806A>G	ENST00000399534.1	+	7	1487	c.1443A>G	c.(1441-1443)ctA>ctG	p.L481L	ZNF131_ENST00000306938.4_Silent_p.L447L|ZNF131_ENST00000509634.1_Silent_p.L447L|ZNF131_ENST00000505606.2_Silent_p.L447L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.L481L			P52739	ZN131_HUMAN	zinc finger protein 131	481					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGCATGTGCTACCATTGCTTC	0.458																																						dbGAP											0													79.0	75.0	76.0					5																	43174806		2039	4190	6229	-	-	-	SO:0001819	synonymous_variant	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1443A>G	5.37:g.43174806A>G			B4DRL3|Q6PIF0	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L481	ENST00000399534.1	37	c.1443		5																																																																																			ZNF131	-	NULL	ENSG00000172262		0.458	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	43	0.00	0	A	NM_003432		43174806	43174806	+1	no_errors	ENST00000399534	ensembl	human	known	69_37n	silent	22	42.11	16	SNP	0.477	G
ZNF98	148198	genome.wustl.edu	37	19	22586248	22586248	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E7-01A-11W-A050-09	TCGA-BH-A0E7-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1ddc3a98-e0b9-4b8e-b3d3-9d39eb7d8264	252cb470-d9b2-40bd-a168-2bef4078d8df	g.chr19:22586248C>T	ENST00000357774.5	-	2	218	c.97G>A	c.(97-99)Gca>Aca	p.A33T	ZNF98_ENST00000601553.1_Missense_Mutation_p.A33T	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCTGCTGTGCGGTGTCCAGG	0.403																																						dbGAP											0													76.0	81.0	79.0					19																	22586248		2199	4297	6496	-	-	-	SO:0001583	missense	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.97G>A	19.37:g.22586248C>T	ENSP00000350418:p.Ala33Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A33T	ENST00000357774.5	37	c.97	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	14.37	2.516425	0.44763	.	.	ENSG00000197360	ENST00000357774	T	0.02236	4.38	1.06	-0.855	0.10700	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	L	0.61387	1.9	0.09310	N	1	D	0.54047	0.964	P	0.53593	0.73	T	0.37384	-0.9708	9	0.54805	T	0.06	.	3.5131	0.07716	0.444:0.556:0.0:0.0	.	33	A6NK75	ZNF98_HUMAN	T	33	ENSP00000350418:A33T	ENSP00000350418:A33T	A	-	1	0	ZNF98	22378088	0.001000	0.12720	0.014000	0.15608	0.211000	0.24417	-0.268000	0.08607	0.532000	0.28657	0.298000	0.19748	GCA	ZNF98	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197360		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	203	0.00	0	C	NM_001098626		22586248	22586248	-1	no_errors	ENST00000357774	ensembl	human	known	69_37n	missense	86	42.28	63	SNP	0.004	T
