#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
ARID1A	8289	genome.wustl.edu	37	1	27101427	27101428	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr1:27101427_27101428insTA	ENST00000324856.7	+	18	5080_5081	c.4709_4710insTA	c.(4708-4713)tctaacfs	p.N1571fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.N1188fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1571					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)	p.N1571fs*40(1)	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)		CCCCCTCCATCTAACTACCAGC	0.629			"""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	1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_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.4710_4711dupTA	1.37:g.27101428_27101429dupTA	ENSP00000320485:p.Asn1571fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	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.N1571fs	ENST00000324856.7	37	c.4709_4710	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.629	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	57	0.00	0	-	NM_139135		27101427	27101428	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	frame_shift_ins	57	40.00	38	INS	1.000:1.000	TA
CCDC8	83987	genome.wustl.edu	37	19	46915313	46915313	+	Missense_Mutation	SNP	G	G	A	rs546044871		TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr19:46915313G>A	ENST00000307522.3	-	1	1528	c.755C>T	c.(754-756)gCg>gTg	p.A252V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	252					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AACATCTCCCGCGTTTCCCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15794	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													38.0	43.0	41.0					19																	46915313		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.755C>T	19.37:g.46915313G>A	ENSP00000303158:p.Ala252Val		Q8TB26	Missense_Mutation	SNP	NULL	p.A252V	ENST00000307522.3	37	c.755	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	7.535	0.659409	0.14645	.	.	ENSG00000169515	ENST00000307522	T	0.12255	2.7	4.66	-1.35	0.09114	.	0.882556	0.09402	N	0.807066	T	0.06826	0.0174	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37430	-0.9706	10	0.46703	T	0.11	0.4776	2.2617	0.04068	0.3204:0.1215:0.4341:0.124	.	252	Q9H0W5	CCDC8_HUMAN	V	252	ENSP00000303158:A252V	ENSP00000303158:A252V	A	-	2	0	CCDC8	51607153	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.518000	0.22847	-0.214000	0.10078	-0.797000	0.03246	GCG	CCDC8	-	NULL	ENSG00000169515		0.687	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	46	0.00	0	G	NM_032040		46915313	46915313	-1	no_errors	ENST00000307522	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.000	A
CD300LF	146722	genome.wustl.edu	37	17	72699195	72699195	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr17:72699195G>T	ENST00000326165.6	-	3	536	c.425C>A	c.(424-426)aCc>aAc	p.T142N	RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_Missense_Mutation_p.T145N|CD300LF_ENST00000301573.9_Missense_Mutation_p.T142N|CD300LF_ENST00000343125.4_Missense_Mutation_p.T145N|CD300LF_ENST00000361254.4_Missense_Mutation_p.T160N|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.T145N|CD300LF_ENST00000581500.1_Missense_Mutation_p.T160N|CD300LF_ENST00000583937.1_Missense_Mutation_p.T157N	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	142					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGGTGGCCGGTCAGAGTTGG	0.547																																						dbGAP											0													202.0	163.0	176.0					17																	72699195		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.425C>A	17.37:g.72699195G>T	ENSP00000327075:p.Thr142Asn		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.T142N	ENST00000326165.6	37	c.425	CCDS11704.1	17	.	.	.	.	.	.	.	.	.	.	G	8.750	0.920993	0.17982	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.05025	3.6;3.51;3.66;3.63	4.55	-1.11	0.09840	.	1.506790	0.04112	N	0.314723	T	0.05090	0.0136	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B;B	0.29188	0.105;0.058;0.005;0.236;0.012;0.01	B;B;B;B;B;B	0.22880	0.042;0.037;0.016;0.03;0.007;0.006	T	0.39354	-0.9618	10	0.48119	T	0.1	.	1.5162	0.02506	0.1862:0.3155:0.3365:0.1618	.	157;160;145;142;142;145	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	N	142;160;145;142	ENSP00000301573:T142N;ENSP00000355294:T160N;ENSP00000343751:T145N;ENSP00000327075:T142N	ENSP00000301573:T142N	T	-	2	0	CD300LF	70210790	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.907000	0.04067	-0.012000	0.14223	-0.152000	0.13540	ACC	CD300LF	-	NULL	ENSG00000186074		0.547	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	HGNC	protein_coding	OTTHUMT00000145085.1	36	0.00	0	G	NM_139018		72699195	72699195	-1	no_errors	ENST00000326165	ensembl	human	known	69_37n	missense	64	54.93	78	SNP	0.000	T
CDH10	1008	genome.wustl.edu	37	5	24491920	24491920	+	Silent	SNP	G	G	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr5:24491920G>T	ENST00000264463.4	-	11	2148	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGGTTAAGATTCTGGCAG	0.323										HNSCC(23;0.051)																												dbGAP											0													79.0	74.0	76.0					5																	24491920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1641C>A	5.37:g.24491920G>T			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I547	ENST00000264463.4	37	c.1641	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.323	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	114	0.00	0	G	NM_006727		24491920	24491920	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	silent	85	15.84	16	SNP	1.000	T
CEP120	153241	genome.wustl.edu	37	5	122724169	122724169	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr5:122724169T>G	ENST00000306467.5	-	9	1691	c.1387A>C	c.(1387-1389)Ata>Cta	p.I463L	CEP120_ENST00000306481.6_Missense_Mutation_p.I437L|CEP120_ENST00000328236.5_Missense_Mutation_p.I463L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	463					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGGCATGTATACTCCTTAAG	0.363																																						dbGAP											0													155.0	142.0	146.0					5																	122724169		1847	4096	5943	-	-	-	SO:0001583	missense	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1387A>C	5.37:g.122724169T>G	ENSP00000303058:p.Ile463Leu		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I463L	ENST00000306467.5	37	c.1387	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704151	0.30232	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.41758	2.39;2.39;2.3;0.99	5.26	-6.5	0.01884	.	0.453747	0.22469	N	0.059648	T	0.29850	0.0746	L	0.45228	1.405	0.53688	D	0.999971	B	0.06786	0.001	B	0.04013	0.001	T	0.03249	-1.1056	10	0.28530	T	0.3	-0.2763	16.2865	0.82724	0.0:0.5066:0.0:0.4934	.	463	Q8N960	CE120_HUMAN	L	463;463;437;437	ENSP00000303058:I463L;ENSP00000327504:I463L;ENSP00000307419:I437L;ENSP00000421620:I437L	ENSP00000303058:I463L	I	-	1	0	CEP120	122752068	0.960000	0.32886	0.448000	0.26945	0.633000	0.38033	0.175000	0.16762	-1.146000	0.02854	0.383000	0.25322	ATA	CEP120	-	NULL	ENSG00000168944		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	208	0.00	0	T	NM_153223		122724169	122724169	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	missense	199	25.75	69	SNP	0.156	G
CLEC18B	497190	genome.wustl.edu	37	16	74443490	74443490	+	Missense_Mutation	SNP	C	C	T	rs200676113		TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr16:74443490C>T	ENST00000339953.5	-	12	1409	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	430	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCGCTGGTCGTTCCAGTTG	0.592																																						dbGAP											0													72.0	67.0	68.0					16																	74443490		2196	4293	6489	-	-	-	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1288G>A	16.37:g.74443490C>T	ENSP00000341051:p.Asp430Asn		B4DF90	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.D430N	ENST00000339953.5	37	c.1288	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	c	23.0	4.359124	0.82353	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.59906	0.23	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.063063	0.64402	D	0.000011	T	0.74527	0.3728	M	0.83483	2.645	0.43953	D	0.996627	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76383	-0.2979	10	0.48119	T	0.1	.	10.7141	0.46002	0.0:1.0:0.0:0.0	.	421;430	C9JSV1;Q6UXF7	.;CL18B_HUMAN	N	421;430	ENSP00000341051:D430N	ENSP00000341051:D430N	D	-	1	0	CLEC18B	73000991	0.996000	0.38824	0.994000	0.49952	0.943000	0.58893	3.476000	0.53143	1.866000	0.54105	0.430000	0.28490	GAC	CLEC18B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000140839		0.592	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	23	0.00	0	C	NM_001011880		74443490	74443490	-1	no_errors	ENST00000339953	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71828631	71828631	+	Silent	SNP	G	G	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr2:71828631G>A	ENST00000258104.3	+	35	4123	c.3846G>A	c.(3844-3846)ccG>ccA	p.P1282P	DYSF_ENST00000409366.1_Silent_p.P1283P|DYSF_ENST00000409651.1_Silent_p.P1314P|DYSF_ENST00000394120.2_Silent_p.P1283P|DYSF_ENST00000409744.1_Silent_p.P1269P|DYSF_ENST00000409582.3_Silent_p.P1299P|DYSF_ENST00000409762.1_Silent_p.P1299P|DYSF_ENST00000410020.3_Silent_p.P1300P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.P1282P|DYSF_ENST00000410041.1_Silent_p.P1300P|DYSF_ENST00000413539.2_Silent_p.P1313P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1282					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						CACTCCAGCCGGCCATCCACC	0.498																																						dbGAP											0													305.0	240.0	262.0					2																	71828631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3846G>A	2.37:g.71828631G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	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.P1313	ENST00000258104.3	37	c.3939	CCDS1918.1	2																																																																																			DYSF	-	NULL	ENSG00000135636		0.498	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	43	0.00	0	G	NM_003494		71828631	71828631	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	silent	54	12.90	8	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40367787	40367787	+	Silent	SNP	G	G	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr19:40367787G>A	ENST00000221347.6	-	29	13180	c.13173C>T	c.(13171-13173)tgC>tgT	p.C4391C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4391	TIL 10.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACCCGCGTCGCACTGGCAGC	0.647																																						dbGAP											0													11.0	16.0	14.0					19																	40367787		1999	3852	5851	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13173C>T	19.37:g.40367787G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.C4391	ENST00000221347.6	37	c.13173	CCDS12546.1	19																																																																																			FCGBP	-	pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	24	0.00	0	G	NM_003890		40367787	40367787	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	0.961	A
FLG	2312	genome.wustl.edu	37	1	152283965	152283965	+	Silent	SNP	G	G	T	rs199934387	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr1:152283965G>T	ENST00000368799.1	-	3	3432	c.3397C>A	c.(3397-3399)Cgg>Agg	p.R1133R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1133	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGTCCGCCCATGGGCA	0.597									Ichthyosis																													dbGAP											0													157.0	194.0	181.0					1																	152283965		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3397C>A	1.37:g.152283965G>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R1133	ENST00000368799.1	37	c.3397	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	197	0.00	0	G	NM_002016		152283965	152283965	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	196	20.62	53	SNP	0.000	T
FMN1	342184	genome.wustl.edu	37	15	33256332	33256332	+	Silent	SNP	A	A	G			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr15:33256332A>G	ENST00000559047.1	-	6	3113	c.3114T>C	c.(3112-3114)taT>taC	p.Y1038Y	FMN1_ENST00000561249.1_Silent_p.Y940Y|FMN1_ENST00000334528.9_Silent_p.Y815Y			Q68DA7	FMN1_HUMAN	formin 1	1038	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTTCTTCTCATAAGTCTCTG	0.368																																						dbGAP											0													192.0	173.0	179.0					15																	33256332		1822	4070	5892	-	-	-	SO:0001819	synonymous_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3114T>C	15.37:g.33256332A>G			Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.Y815	ENST00000559047.1	37	c.2445		15																																																																																			FMN1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000248905		0.368	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	218	0.00	0	A	NM_001103184		33256332	33256332	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	silent	98	56.25	126	SNP	1.000	G
FOXA1	3169	genome.wustl.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607																																						dbGAP											3	Substitution - Missense(3)	prostate(3)											49.0	48.0	49.0					14																	38061313		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D226N	ENST00000250448.2	37	c.676	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	15	0.00	0	C			38061313	38061313	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319943	21319943	+	Missense_Mutation	SNP	A	A	G	rs5021699	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr17:21319943A>G	ENST00000583088.1	+	3	2184	c.1289A>G	c.(1288-1290)gAg>gGg	p.E430G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E430G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	430			E -> G (in dbSNP:rs5021699).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACAGACGGGAGTCAGAGATC	0.701										Prostate(3;0.18)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1289A>G	17.37:g.21319943A>G	ENSP00000463778:p.Glu430Gly		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.E430G	ENST00000583088.1	37	c.1289	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515652	0.64634	.	.	ENSG00000184185	ENST00000331718	D	0.90197	-2.63	5.41	5.41	0.78517	.	0.381500	0.26680	N	0.023059	D	0.94699	0.8290	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94947	0.8096	10	0.59425	D	0.04	.	15.4536	0.75297	1.0:0.0:0.0:0.0	rs5021699	430	Q14500	IRK12_HUMAN	G	430	ENSP00000328150:E430G	ENSP00000328150:E430G	E	+	2	0	KCNJ12	21260536	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.091000	0.94151	2.066000	0.61787	0.528000	0.53228	GAG	KCNJ12	-	NULL	ENSG00000184185		0.701	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	9	0.00	0	A	NM_021012		21319943	21319943	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	G
LRP4	4038	genome.wustl.edu	37	11	46917494	46917495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr11:46917494_46917495insC	ENST00000378623.1	-	10	1365_1366	c.1123_1124insG	c.(1123-1125)gcafs	p.A375fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	375	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACTGCACTGCCCCCCGCACC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1124dupG	11.37:g.46917500_46917500dupC	ENSP00000367888:p.Ala375fs		B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A375fs	ENST00000378623.1	37	c.1124_1123	CCDS31478.1	11																																																																																			LRP4	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000134569		0.629	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	31	0.00	0	-	NM_002334		46917494	46917495	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.850:0.844	C
LRRK2	120892	genome.wustl.edu	37	12	40745381	40745381	+	Missense_Mutation	SNP	C	C	T	rs111691891		TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr12:40745381C>T	ENST00000298910.7	+	44	6480	c.6422C>T	c.(6421-6423)aCg>aTg	p.T2141M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2141			T -> M (in PARK8). {ECO:0000269|PubMed:18213618}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.T2141M(1)|p.T2148M(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTGTCTGACGAGACGCATT	0.388																																						dbGAP											2	Substitution - Missense(2)	stomach(2)	GRCh37	CM081687	LRRK2	M	rs111691891						61.0	60.0	60.0					12																	40745381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6422C>T	12.37:g.40745381C>T	ENSP00000298910:p.Thr2141Met		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.T2141M	ENST00000298910.7	37	c.6422	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128345	0.01770	.	.	ENSG00000188906	ENST00000298910	T	0.70631	-0.5	6.06	2.37	0.29283	.	0.067067	0.85682	N	0.000000	T	0.32010	0.0815	N	0.00230	-1.795	0.24560	N	0.993976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.30822	-0.9965	10	0.17832	T	0.49	.	12.4086	0.55453	0.0:0.1252:0.0:0.8748	.	2141;2141	Q17RV3;Q5S007	.;LRRK2_HUMAN	M	2141	ENSP00000298910:T2141M	ENSP00000298910:T2141M	T	+	2	0	LRRK2	39031648	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	3.171000	0.50824	0.183000	0.20059	-1.119000	0.02030	ACG	LRRK2	-	NULL	ENSG00000188906		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	61	0.00	0	C	XM_058513		40745381	40745381	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	T
OR2T27	403239	genome.wustl.edu	37	1	248813788	248813788	+	Missense_Mutation	SNP	G	G	A	rs561258192	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr1:248813788G>A	ENST00000344889.3	-	1	397	c.398C>T	c.(397-399)cCt>cTt	p.P133L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P133H(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGGACAGGATAGTGCAG	0.547																																						dbGAP											1	Substitution - Missense(1)	lung(1)											90.0	56.0	68.0					1																	248813788		2202	4266	6468	-	-	-	SO:0001583	missense	0				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.398C>T	1.37:g.248813788G>A	ENSP00000342008:p.Pro133Leu			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P133L	ENST00000344889.3	37	c.398	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	8.777	0.927254	0.18056	.	.	ENSG00000187701	ENST00000344889	T	0.01126	5.3	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.190191	0.25830	N	0.028032	T	0.01454	0.0047	L	0.49640	1.575	0.09310	N	1	B	0.31910	0.346	B	0.30105	0.111	T	0.43893	-0.9363	10	0.59425	D	0.04	.	9.3321	0.38027	0.0:0.0:0.7853:0.2147	.	133	Q8NH04	O2T27_HUMAN	L	133	ENSP00000342008:P133L	ENSP00000342008:P133L	P	-	2	0	OR2T27	246880411	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	-0.301000	0.08232	1.854000	0.53819	0.194000	0.17425	CCT	OR2T27	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000187701		0.547	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	131	0.00	0	G	NM_001001824		248813788	248813788	-1	no_errors	ENST00000344889	ensembl	human	known	69_37n	missense	181	17.35	38	SNP	0.022	A
OXGR1	27199	genome.wustl.edu	37	13	97639047	97639047	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr13:97639047C>G	ENST00000298440.1	-	4	1210	c.967G>C	c.(967-969)Ggg>Cgg	p.G323R	OXGR1_ENST00000543457.1_Missense_Mutation_p.G323R	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	323					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCAAGGTTCCCGCTTACTTTG	0.393																																						dbGAP											0													121.0	121.0	121.0					13																	97639047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.967G>C	13.37:g.97639047C>G	ENSP00000298440:p.Gly323Arg		Q5T5A7|Q86TL1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.G323R	ENST00000298440.1	37	c.967	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	C	0	-2.635026	0.00114	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.34072	1.38;1.38	5.87	3.23	0.37069	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30794	-0.9966	9	0.10111	T	0.7	.	4.1596	0.10277	0.0:0.5005:0.1666:0.3329	.	323	Q96P68	OXGR1_HUMAN	R	323	ENSP00000298440:G323R;ENSP00000438800:G323R	ENSP00000298440:G323R	G	-	1	0	OXGR1	96437048	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.402000	0.07223	0.957000	0.37930	-0.137000	0.14449	GGG	OXGR1	-	NULL	ENSG00000165621		0.393	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	282	0.00	0	C	NM_080818		97639047	97639047	-1	no_errors	ENST00000298440	ensembl	human	known	69_37n	missense	145	25.26	49	SNP	0.000	G
PCDHA9	9752	genome.wustl.edu	37	5	140229518	140229518	+	Missense_Mutation	SNP	C	C	T	rs544460228	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr5:140229518C>T	ENST00000532602.1	+	1	2471	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R480W|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCGCGGGACGCTGA	0.657													.|||	2	0.000399361	0.0	0.0014	5008	,	,		17996	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	dbGAP											0													58.0	63.0	61.0					5																	140229518		2194	4267	6461	-	-	-	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1438C>T	5.37:g.140229518C>T	ENSP00000436042:p.Arg480Trp		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R480W	ENST00000532602.1	37	c.1438	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	0.725	-0.782255	0.02907	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52983	0.64;0.64	3.56	-1.8	0.07907	Cadherin (4);Cadherin-like (1);	0.833607	0.09224	U	0.831572	T	0.34571	0.0902	L	0.42245	1.32	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.12837	0.008;0.002	T	0.29852	-0.9998	10	0.44086	T	0.13	.	5.2284	0.15408	0.0:0.3292:0.2753:0.3955	.	480;480	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	W	480	ENSP00000436042:R480W;ENSP00000367362:R480W	ENSP00000367362:R480W	R	+	1	2	PCDHA9	140209702	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-3.259000	0.00536	-0.284000	0.09102	-1.210000	0.01631	CGG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	41	0.00	0	C	NM_031857		140229518	140229518	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	missense	25	43.18	19	SNP	0.000	T
PGAP1	80055	genome.wustl.edu	37	2	197707464	197707464	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr2:197707464T>A	ENST00000354764.4	-	26	2725	c.2611A>T	c.(2611-2613)Act>Tct	p.T871S		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	871					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATTGAAACAGTGTAAGTATTT	0.274																																						dbGAP											0													64.0	75.0	71.0					2																	197707464		2203	4289	6492	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2611A>T	2.37:g.197707464T>A	ENSP00000346809:p.Thr871Ser		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.T871S	ENST00000354764.4	37	c.2611	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731443	0.30684	.	.	ENSG00000197121	ENST00000354764	.	.	.	5.14	3.99	0.46301	.	0.179650	0.48286	D	0.000184	T	0.40791	0.1131	L	0.27053	0.805	0.80722	D	1	B	0.24483	0.104	B	0.21708	0.036	T	0.15065	-1.0450	9	0.17832	T	0.49	-11.3243	10.6377	0.45575	0.0:0.0751:0.0:0.9249	.	871	Q75T13	PGAP1_HUMAN	S	871	.	ENSP00000346809:T871S	T	-	1	0	PGAP1	197415709	0.991000	0.36638	0.992000	0.48379	0.993000	0.82548	2.601000	0.46249	0.984000	0.38629	0.482000	0.46254	ACT	PGAP1	-	NULL	ENSG00000197121		0.274	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	162	0.00	0	T	NM_024989		197707464	197707464	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	0.986	A
PHF12	57649	genome.wustl.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)ccafs	p.P882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2646dupC	17.37:g.27233915_27233915dupG	ENSP00000329933:p.Pro882fs			Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.S883fs	ENST00000332830.4	37	c.2646_2645	CCDS32598.1	17																																																																																			PHF12	-	NULL	ENSG00000109118		0.510	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	34	0.00	0	-	NM_020889		27233908	27233909	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	frame_shift_ins	48	11.11	6	INS	0.990:1.000	G
RBFOX2	23543	genome.wustl.edu	37	22	36142022	36142022	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr22:36142022G>A	ENST00000438146.2	-	13	1258	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	RBFOX2_ENST00000405409.2_Missense_Mutation_p.P333S|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A349V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A327V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P336S|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P336S|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A326V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A345V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	359					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GTAGGGGTCGGCTGTGTACAC	0.403																																						dbGAP											0													139.0	160.0	153.0					22																	36142022		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.1259C>T	22.37:g.36142022G>A	ENSP00000413035:p.Ala420Val		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.A420V	ENST00000438146.2	37	c.1259	CCDS43013.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.010850|5.010850	0.93346|0.93346	.|.	.|.	ENSG00000100320|ENSG00000100320	ENST00000449924;ENST00000262829;ENST00000397303;ENST00000416721;ENST00000438146|ENST00000405409;ENST00000338644;ENST00000414461;ENST00000359369	T;T;T;T|T;T;T	0.60171|0.40476	0.27;0.54;0.5;0.21|1.35;1.08;1.03	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.161199|.	0.56097|.	D|.	0.000035|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B;P;B;B;P;P|B;B;B	0.51791|0.15473	0.356;0.86;0.229;0.229;0.886;0.948|0.002;0.013;0.004	B;P;B;B;P;P|B;B;B	0.60068|0.14023	0.164;0.453;0.081;0.117;0.72;0.868|0.004;0.01;0.01	T|T	0.13045|0.13045	-1.0524|-1.0524	9|8	0.87932|0.45353	D|T	0|0.12	.|.	19.3268|19.3268	0.94265|0.94265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	419;420;327;345;349;326|336;333;336	O43251-6;O43251-8;O43251-3;O43251-5;O43251-10;B0QYV1|B0QYY4;O43251-9;O43251-4	.;.;.;.;.;.|.;.;.	V|S	349;327;326;345;420|333;366;336;336	ENSP00000391670:A349V;ENSP00000380470:A326V;ENSP00000405651:A345V;ENSP00000413035:A420V|ENSP00000384944:P333S;ENSP00000407855:P336S;ENSP00000352328:P336S	ENSP00000262829:A327V|ENSP00000342831:P366S	A|P	-|-	2|1	0|0	RBFOX2|RBFOX2	34471968|34471968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.566000|7.566000	0.82347|0.82347	2.563000|2.563000	0.86464|0.86464	0.561000|0.561000	0.74099|0.74099	GCC|CCG	RBFOX2	-	pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1	ENSG00000100320		0.403	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	RBFOX2	HGNC	protein_coding	OTTHUMT00000319299.3	327	0.00	0	G			36142022	36142022	-1	no_errors	ENST00000438146	ensembl	human	known	69_37n	missense	474	12.38	67	SNP	1.000	A
RGS8	85397	genome.wustl.edu	37	1	182616032	182616032	+	Silent	SNP	G	G	C			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr1:182616032G>C	ENST00000483095.2	-	7	638	c.381C>G	c.(379-381)acC>acG	p.T127T	RGS8_ENST00000367557.4_Silent_p.T127T|RGS8_ENST00000367556.1_Silent_p.T127T|RGS8_ENST00000258302.4_Silent_p.T145T			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	127	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TGGCTTCTCGGGTCTGGAAGT	0.507																																					Ovarian(189;1262 3804 41973)	dbGAP											0													126.0	124.0	124.0					1																	182616032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.381C>G	1.37:g.182616032G>C			B4DGL9|Q3SYD2	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.T145	ENST00000483095.2	37	c.435	CCDS41443.1	1																																																																																			RGS8	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000135824		0.507	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	77	0.00	0	G	NM_033345		182616032	182616032	-1	no_errors	ENST00000258302	ensembl	human	known	69_37n	silent	89	39.04	57	SNP	1.000	C
RNF168	165918	genome.wustl.edu	37	3	196199408	196199408	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr3:196199408G>C	ENST00000318037.3	-	6	1592	c.998C>G	c.(997-999)cCt>cGt	p.P333R	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	333					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TCTGGTTTTAGGTCGCTCGTG	0.483																																						dbGAP											0													193.0	189.0	190.0					3																	196199408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.998C>G	3.37:g.196199408G>C	ENSP00000320898:p.Pro333Arg		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P333R	ENST00000318037.3	37	c.998	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	8.685	0.906118	0.17760	.	.	ENSG00000163961	ENST00000318037	T	0.06528	3.29	5.36	3.53	0.40419	.	0.635159	0.15645	N	0.251713	T	0.08891	0.0220	M	0.73962	2.25	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.25222	-1.0138	10	0.48119	T	0.1	-5.6363	4.8359	0.13464	0.0826:0.149:0.6146:0.1538	.	333	Q8IYW5	RN168_HUMAN	R	333	ENSP00000320898:P333R	ENSP00000320898:P333R	P	-	2	0	RNF168	197683805	0.001000	0.12720	0.006000	0.13384	0.005000	0.04900	0.956000	0.29202	0.886000	0.36113	0.591000	0.81541	CCT	RNF168	-	NULL	ENSG00000163961		0.483	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	123	0.00	0	G	NM_152617		196199408	196199408	-1	no_errors	ENST00000318037	ensembl	human	known	69_37n	missense	104	26.76	38	SNP	0.003	C
RXFP3	51289	genome.wustl.edu	37	5	33937261	33937261	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr5:33937261C>T	ENST00000330120.3	+	1	771	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	139					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCCTTCTGGGCGGTGGAGAAC	0.552																																						dbGAP											0													136.0	123.0	127.0					5																	33937261		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.416C>T	5.37:g.33937261C>T	ENSP00000328708:p.Ala139Val		Q14DA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.A139V	ENST00000330120.3	37	c.416	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.269589	0.95429	.	.	ENSG00000182631	ENST00000330120	T	0.18338	2.22	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.052019	0.85682	N	0.000000	T	0.38026	0.1025	L	0.45422	1.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.04811	-1.0925	10	0.87932	D	0	-26.0635	19.8764	0.96873	0.0:1.0:0.0:0.0	.	139	Q9NSD7	RL3R1_HUMAN	V	139	ENSP00000328708:A139V	ENSP00000328708:A139V	A	+	2	0	RXFP3	33973018	1.000000	0.71417	0.960000	0.40013	0.982000	0.71751	4.902000	0.63266	2.700000	0.92200	0.650000	0.86243	GCG	RXFP3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt	ENSG00000182631		0.552	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	21	0.00	0	C	NM_016568		33937261	33937261	+1	no_errors	ENST00000330120	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23910010	23910010	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr13:23910010C>A	ENST00000382292.3	-	9	8278	c.8005G>T	c.(8005-8007)Gat>Tat	p.D2669Y	SACS_ENST00000382298.3_Missense_Mutation_p.D2669Y|SACS_ENST00000402364.1_Missense_Mutation_p.D1919Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2669					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCATCCAAATCTCTAAACATG	0.418																																						dbGAP											0													58.0	59.0	59.0					13																	23910010		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8005G>T	13.37:g.23910010C>A	ENSP00000371729:p.Asp2669Tyr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.D2669Y	ENST00000382292.3	37	c.8005	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630644	0.87660	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88741	-2.42;-2.42;-2.42	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	N	0.14661	0.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64687	0.928	D	0.87844	0.2653	10	0.27785	T	0.31	.	19.5206	0.95183	0.0:1.0:0.0:0.0	.	2669	Q9NZJ4	SACS_HUMAN	Y	2669;1919;2669	ENSP00000371729:D2669Y;ENSP00000385844:D1919Y;ENSP00000371735:D2669Y	ENSP00000371729:D2669Y	D	-	1	0	SACS	22808010	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.487000	0.81328	2.619000	0.88677	0.462000	0.41574	GAT	SACS	-	superfamily_ATPase-like_ATP-bd	ENSG00000151835		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	127	0.00	0	C	NM_014363		23910010	23910010	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	54	40.00	36	SNP	1.000	A
SCN8A	6334	genome.wustl.edu	37	12	52056740	52056740	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr12:52056740G>T	ENST00000354534.6	+	2	317	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	SCN8A_ENST00000545061.1_Missense_Mutation_p.D47Y|SCN8A_ENST00000550891.1_Missense_Mutation_p.D47Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	47					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCATCGGGAGGACGATGAGGA	0.552																																						dbGAP											0													92.0	99.0	96.0					12																	52056740		2061	4205	6266	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.139G>T	12.37:g.52056740G>T	ENSP00000346534:p.Asp47Tyr		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D47Y	ENST00000354534.6	37	c.139	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464615	0.63513	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.96200	-3.9;-3.94;-3.9;-3.76	5.12	4.24	0.50183	.	.	.	.	.	D	0.95348	0.8490	M	0.81942	2.565	0.58432	D	0.999996	P	0.52842	0.956	P	0.44732	0.459	D	0.95452	0.8535	9	0.72032	D	0.01	.	14.1241	0.65208	0.0721:0.0:0.9279:0.0	.	47	Q9UQD0	SCN8A_HUMAN	Y	47	ENSP00000448415:D47Y;ENSP00000346534:D47Y;ENSP00000440360:D47Y;ENSP00000347255:D47Y	ENSP00000346534:D47Y	D	+	1	0	SCN8A	50343007	0.898000	0.30612	0.905000	0.35620	0.999000	0.98932	2.972000	0.49256	1.545000	0.49373	0.655000	0.94253	GAC	SCN8A	-	NULL	ENSG00000196876		0.552	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	335	0.00	0	G	NM_014191		52056740	52056740	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	312	43.88	244	SNP	0.884	T
SRRM2	23524	genome.wustl.edu	37	16	2816906	2816906	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr16:2816906C>T	ENST00000301740.8	+	11	6926	c.6377C>T	c.(6376-6378)cCt>cTt	p.P2126L	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2126	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCCCAACACCTCTTGATCGC	0.537																																						dbGAP											0													188.0	171.0	177.0					16																	2816906		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6377C>T	16.37:g.2816906C>T	ENSP00000301740:p.Pro2126Leu		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.P2126L	ENST00000301740.8	37	c.6377	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131322	0.37630	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.46819	0.86	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.53867	0.1823	N	0.19112	0.55	0.48762	D	0.999702	D	0.71674	0.998	D	0.76071	0.987	T	0.57225	-0.7848	10	0.56958	D	0.05	-21.0864	14.7816	0.69772	0.0:1.0:0.0:0.0	.	2126	Q9UQ35	SRRM2_HUMAN	L	2126;1378	ENSP00000301740:P2126L	ENSP00000301740:P2126L	P	+	2	0	SRRM2	2756907	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.279000	0.43435	2.573000	0.86826	0.655000	0.94253	CCT	SRRM2	-	NULL	ENSG00000167978		0.537	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	217	0.00	0	C			2816906	2816906	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	210	39.13	135	SNP	1.000	T
SYNPO	11346	genome.wustl.edu	37	5	150029357	150029357	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr5:150029357G>A	ENST00000394243.1	+	3	2626	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R751H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R507H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R507H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	751					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCTGGCCCGCTGCCCATCA	0.647																																						dbGAP											0													64.0	80.0	74.0					5																	150029357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2252G>A	5.37:g.150029357G>A	ENSP00000377789:p.Arg751His		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.R751H	ENST00000394243.1	37	c.2252	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369580	0.82463	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.60672	0.51;0.51;0.17	5.06	5.06	0.68205	.	0.000000	0.49305	D	0.000146	T	0.74974	0.3787	M	0.68952	2.095	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76236	-0.3033	10	0.51188	T	0.08	-18.9239	18.0401	0.89316	0.0:0.0:1.0:0.0	.	507;751	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	751;751;507;507	ENSP00000377789:R751H;ENSP00000428378:R751H;ENSP00000429268:R507H	ENSP00000302139:R507H	R	+	2	0	SYNPO	150009550	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.765000	0.98953	2.363000	0.80096	0.462000	0.41574	CGC	SYNPO	-	NULL	ENSG00000171992		0.647	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	84	0.00	0	G	NM_007286		150029357	150029357	+1	no_errors	ENST00000394243	ensembl	human	known	69_37n	missense	73	23.71	23	SNP	1.000	A
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	32	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.994	A
TRIM33	51592	genome.wustl.edu	37	1	115006984	115006984	+	Missense_Mutation	SNP	G	G	A	rs527615130		TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr1:115006984G>A	ENST00000358465.2	-	2	636	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	TRIM33_ENST00000369543.2_Missense_Mutation_p.R185C|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	185					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCTTGGCGGCATACTGGG	0.353			T	RET	papillary thyroid								G|||	1	0.000199681	0.0	0.0014	5008	,	,		17084	0.0		0.0	False		,,,				2504	0.0					dbGAP		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													102.0	98.0	99.0					1																	115006984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.553C>T	1.37:g.115006984G>A	ENSP00000351250:p.Arg185Cys		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.R185C	ENST00000358465.2	37	c.553	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677678	0.88445	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	T;T	0.61158	0.13;0.13	5.8	5.8	0.92144	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.101740	0.64402	D	0.000002	T	0.71434	0.3339	M	0.81497	2.545	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.69479	0.736;0.964	T	0.74987	-0.3476	10	0.72032	D	0.01	-2.6676	14.5043	0.67743	0.0:0.0:0.8532:0.1468	.	185;185	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	C	185	ENSP00000351250:R185C;ENSP00000358556:R185C	ENSP00000351250:R185C	R	-	1	0	TRIM33	114808507	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.232000	0.58645	2.744000	0.94065	0.655000	0.94253	CGC	TRIM33	-	smart_Znf_PHD,pfscan_Znf_RING	ENSG00000197323		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	116	0.00	0	G	NM_015906		115006984	115006984	-1	no_errors	ENST00000358465	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	1.000	A
TTC14	151613	genome.wustl.edu	37	3	180320056	180320056	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr3:180320056C>T	ENST00000296015.4	+	1	139	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Missense_Mutation_p.R3W|TTC14_ENST00000382584.4_Missense_Mutation_p.R3W	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	3							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGCCATGGACCGGGACCTTTT	0.592																																						dbGAP											0													57.0	58.0	58.0					3																	180320056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.7C>T	3.37:g.180320056C>T	ENSP00000296015:p.Arg3Trp		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R3W	ENST00000296015.4	37	c.7	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984144	0.53827	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584	T;T	0.50277	0.75;0.76	5.09	4.22	0.49857	.	0.056001	0.64402	D	0.000002	T	0.62307	0.2417	L	0.56769	1.78	0.46701	D	0.999169	D;D;B	0.89917	1.0;1.0;0.101	D;D;B	0.72625	0.978;0.95;0.019	T	0.65352	-0.6189	10	0.87932	D	0	-6.9818	11.5379	0.50648	0.0:0.9169:0.0:0.0831	.	3;3;3	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	W	3	ENSP00000296015:R3W;ENSP00000372027:R3W	ENSP00000296015:R3W	R	+	1	2	TTC14	181802750	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	3.850000	0.55918	1.377000	0.46286	-0.218000	0.12543	CGG	TTC14	-	NULL	ENSG00000163728		0.592	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	17	0.00	0	C	NM_133462		180320056	180320056	+1	no_errors	ENST00000296015	ensembl	human	known	69_37n	missense	10	42.11	8	SNP	1.000	T
USP36	57602	genome.wustl.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040|rs537129179	byFrequency	TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr17:76799860_76799861insG	ENST00000542802.3	-	16	2859_2860	c.2416_2417insC	c.(2416-2418)cagfs	p.Q806fs	USP36_ENST00000312010.6_Frame_Shift_Ins_p.Q806fs|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2417dupC	17.37:g.76799867_76799867dupG	ENSP00000441214:p.Gln806fs		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q806fs	ENST00000542802.3	37	c.2417_2416	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.629	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	11	0.00	0	-	NM_025090		76799860	76799861	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	frame_shift_ins	15	21.05	4	INS	0.000:0.000	G
ZNF396	252884	genome.wustl.edu	37	18	32949212	32949212	+	Silent	SNP	A	A	G			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr18:32949212A>G	ENST00000589332.1	-	4	1106	c.975T>C	c.(973-975)caT>caC	p.H325H	ZNF396_ENST00000306346.1_Intron			Q96N95	ZN396_HUMAN	zinc finger protein 396	325					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTCTTTTCCTATGTCTAAAAA	0.408																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.975T>C	18.37:g.32949212A>G			A1L3V0|Q8NF98|Q8TD80	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H325	ENST00000589332.1	37	c.975		18																																																																																			ZNF396	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186496		0.408	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	ZNF396	HGNC	protein_coding	OTTHUMT00000255766.1	93	0.00	0	A	NM_145756		32949212	32949212	-1	no_errors	ENST00000589332	ensembl	human	known	69_37n	silent	75	27.88	29	SNP	0.365	G
ZNF525	170958	genome.wustl.edu	37	19	53884897	53884897	+	Silent	SNP	C	C	T			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr19:53884897C>T	ENST00000355326.3	+	1	219	c.219C>T	c.(217-219)taC>taT	p.Y73Y	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Silent_p.Y355Y|ZNF525_ENST00000467003.1_Silent_p.Y319Y|ZNF525_ENST00000475179.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AGAAACCTTACGAATGTGAAG	0.388																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.219C>T	19.37:g.53884897C>T			Q8TF23	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y73	ENST00000355326.3	37	c.219		19																																																																																			ZNF525	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000203326		0.388	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		159	0.00	0	C	NR_003699		53884897	53884897	+1	no_errors	ENST00000355326	ensembl	human	known	69_37n	silent	192	30.47	85	SNP	0.027	T
ZNF782	158431	genome.wustl.edu	37	9	99580378	99580378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A06N-01A-11W-A019-09	TCGA-A8-A06N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	03d266a3-eb3e-4893-af6b-cb70d197d98f	a29ad24e-ea1d-4640-84c8-c0cc08bfb173	g.chr9:99580378C>A	ENST00000481138.1	-	6	2588	c.1927G>T	c.(1927-1929)Gag>Tag	p.E643*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.E511*|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TATGGTTTCTCCCCGGTGTGA	0.433																																						dbGAP											0													116.0	108.0	111.0					9																	99580378		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1927G>T	9.37:g.99580378C>A	ENSP00000419397:p.Glu643*		B2RNR0	Nonsense_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.E643*	ENST00000481138.1	37	c.1927	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	31|31	5.082708|5.082708	0.94050|0.94050	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	.|T	.|0.01599	.|4.74	3.06|3.06	3.06|3.06	0.35304|0.35304	.|.	.|.	.|.	.|.	.|.	.|T	.|0.05914	.|0.0154	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23868	.|-1.0176	.|6	0.72032|0.72032	D|D	0.01|0.01	.|.	12.3578|12.3578	0.55186|0.55186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	643;511|631	.|ENSP00000418686:G631V	ENSP00000419397:E643X|ENSP00000418686:G631V	E|G	-|-	1|2	0|0	ZNF782|ZNF782	98620199|98620199	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.873000|0.873000	0.50193|0.50193	6.571000|6.571000	0.74000|0.74000	2.009000|2.009000	0.58944|0.58944	0.655000|0.655000	0.94253|0.94253	GAG|GGA	ZNF782	-	pfscan_Znf_C2H2	ENSG00000196597		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	456	0.00	0	C	NM_001001662		99580378	99580378	-1	no_errors	ENST00000481138	ensembl	human	known	69_37n	nonsense	449	22.41	130	SNP	1.000	A
