#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2M	2	genome.wustl.edu	37	12	9251298	9251298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr12:9251298G>A	ENST00000318602.7	-	15	2063	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	586					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCTGTGACTCGCAGGTGGGCG	0.557																																						dbGAP											0													43.0	43.0	43.0					12																	9251298		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1756C>T	12.37:g.9251298G>A	ENSP00000323929:p.Arg586*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.R586*	ENST00000318602.7	37	c.1756	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.439635	0.96168	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	5.55	-0.571	0.11749	.	1.647370	0.03405	N	0.203872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	9.7781	0.40632	0.0:0.1699:0.4116:0.4185	.	.	.	.	X	586;601	.	ENSP00000323929:R586X	R	-	1	2	A2M	9142565	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.126000	0.15769	-0.210000	0.10140	0.655000	0.94253	CGA	A2M	-	pfam_A2M_N_2	ENSG00000175899		0.557	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	23	0.00	0	G	NM_000014		9251298	9251298	-1	no_errors	ENST00000318602	ensembl	human	known	69_37n	nonsense	32	27.27	12	SNP	0.003	A
AQP12A	375318	genome.wustl.edu	37	2	241631413	241631413	+	Missense_Mutation	SNP	T	T	G	rs71428454	byFrequency	TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr2:241631413T>G	ENST00000337801.4	+	1	152	c.83T>G	c.(82-84)cTg>cGg	p.L28R	AQP12A_ENST00000429564.1_Missense_Mutation_p.L28R|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	28						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCCAAGGCCCTGCTCCCAGTG	0.692													t|||	1001	0.19988	0.1989	0.3242	5008	,	,		17103	0.0357		0.3519	False		,,,				2504	0.1258					dbGAP											0													40.0	47.0	45.0					2																	241631413		2180	4285	6465	-	-	-	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.83T>G	2.37:g.241631413T>G	ENSP00000337144:p.Leu28Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.L28R	ENST00000337801.4	37	c.83		2	457|457	0.20924908424908426|0.20924908424908426	95|95	0.19308943089430894|0.19308943089430894	110|110	0.30386740331491713|0.30386740331491713	18|18	0.03146853146853147|0.03146853146853147	234|234	0.3087071240105541|0.3087071240105541	.|.	3.061|3.061	-0.193201|-0.193201	0.06259|0.06259	.|.	.|.	ENSG00000184945|ENSG00000184945	ENST00000420599|ENST00000337801;ENST00000429564	.|T;T	.|0.11385	.|2.78;2.78	2.43|2.43	2.43|2.43	0.29744|0.29744	.|.	.|0.166965	.|0.42682	.|D	.|0.000664	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.25432|0.25432	P|P	0.9881739|0.9881739	.|D	.|0.67145	.|0.996	.|P	.|0.57548	.|0.823	T|T	0.38457|0.38457	-0.9660|-0.9660	5|9	0.87932|0.66056	D|D	0|0.02	-20.1652|-20.1652	8.4076|8.4076	0.32625|0.32625	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|28	.|Q8IXF9	.|AQ12A_HUMAN	G|R	1|28	.|ENSP00000337144:L28R;ENSP00000405899:L28R	ENSP00000399666:C1G|ENSP00000337144:L28R	C|L	+|+	1|2	0|0	AQP12A|AQP12A	241280086|241280086	0.134000|0.134000	0.22483|0.22483	0.878000|0.878000	0.34440|0.34440	0.334000|0.334000	0.28698|0.28698	1.538000|1.538000	0.36094|0.36094	1.134000|1.134000	0.42165|0.42165	0.156000|0.156000	0.16432|0.16432	TGC|CTG	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	10	0.00	0	T	NM_198998		241631413	241631413	+1	no_errors	ENST00000429564	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.987	G
BCAS1	8537	genome.wustl.edu	37	20	52645062	52645062	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr20:52645062A>T	ENST00000395961.3	-	4	758	c.592T>A	c.(592-594)Ttc>Atc	p.F198I	BCAS1_ENST00000411563.1_Missense_Mutation_p.F101I|BCAS1_ENST00000371440.3_Missense_Mutation_p.F198I|BCAS1_ENST00000371435.2_Missense_Mutation_p.F198I	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	198						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCAGCTTGAAGAATTTGTCA	0.562																																						dbGAP											0													168.0	164.0	165.0					20																	52645062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.592T>A	20.37:g.52645062A>T	ENSP00000379290:p.Phe198Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.F198I	ENST00000395961.3	37	c.592	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912781	0.52439	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	T	0.25568	0.0622	M	0.66939	2.045	0.43708	D	0.996172	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.996;0.996	T	0.00542	-1.1680	10	0.45353	T	0.12	-12.1639	12.569	0.56326	1.0:0.0:0.0:0.0	.	101;198;198;198;198;198	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	I	60;198;76;198;198;101	ENSP00000396361:F60I;ENSP00000360495:F198I;ENSP00000379290:F198I;ENSP00000360490:F198I;ENSP00000397442:F101I	ENSP00000360490:F198I	F	-	1	0	BCAS1	52078469	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	6.335000	0.72949	2.044000	0.60594	0.460000	0.39030	TTC	BCAS1	-	NULL	ENSG00000064787		0.562	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	348	0.00	0	A	NM_003657		52645062	52645062	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	586	10.38	68	SNP	0.999	T
CCDC30	728621	genome.wustl.edu	37	1	43108213	43108213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr1:43108213G>T	ENST00000340612.4	+	11	1708	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E359*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E359*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E570*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.E570*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	570						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAACTTCAGGAGCAAGTCAT	0.453																																						dbGAP											0													163.0	160.0	161.0					1																	43108213		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1708G>T	1.37:g.43108213G>T	ENSP00000340378:p.Glu570*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14F06|Q5VVM5	Nonsense_Mutation	SNP	NULL	p.E570*	ENST00000340612.4	37	c.1708	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523797	0.85600	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.62	3.76	0.43208	.	0.317848	0.33382	N	0.004974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.5098	0.33211	0.177:0.0:0.823:0.0	.	.	.	.	X	570;359;570;570;359	.	ENSP00000340378:E570X	E	+	1	0	CCDC30	42880800	0.988000	0.35896	0.934000	0.37439	0.746000	0.42486	1.874000	0.39568	0.743000	0.32719	0.655000	0.94253	GAG	CCDC30	-	NULL	ENSG00000186409		0.453	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	437	0.00	0	G	NM_025030		43108213	43108213	+1	no_errors	ENST00000340612	ensembl	human	known	69_37n	nonsense	442	21.07	118	SNP	0.976	T
CHRM3	1131	genome.wustl.edu	37	1	240071679	240071679	+	Missense_Mutation	SNP	C	C	T	rs201639396		TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr1:240071679C>T	ENST00000255380.4	+	5	1707	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	310					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAAGTATGGCCGCTGCCACTT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19234	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													40.0	42.0	42.0					1																	240071679		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.928C>T	1.37:g.240071679C>T	ENSP00000255380:p.Arg310Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.R310C	ENST00000255380.4	37	c.928	CCDS1616.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.220	1.033052	0.19590	.	.	ENSG00000133019	ENST00000255380	T	0.61742	0.08	5.88	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.260319	0.39210	N	0.001433	T	0.45776	0.1359	L	0.39898	1.24	0.52501	D	0.999959	B	0.15473	0.013	B	0.14023	0.01	T	0.36089	-0.9762	10	0.72032	D	0.01	-8.7864	8.2566	0.31760	0.0:0.5017:0.3667:0.1316	.	310	P20309	ACM3_HUMAN	C	310	ENSP00000255380:R310C	ENSP00000255380:R310C	R	+	1	0	CHRM3	238138302	0.021000	0.18746	0.942000	0.38095	0.765000	0.43378	0.333000	0.19768	0.367000	0.24454	0.591000	0.81541	CGC	CHRM3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt	ENSG00000133019		0.527	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	77	0.00	0	C	NM_000740		240071679	240071679	+1	no_errors	ENST00000255380	ensembl	human	known	69_37n	missense	50	59.68	74	SNP	0.972	T
DHRS9	10170	genome.wustl.edu	37	2	169938396	169938396	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr2:169938396G>A	ENST00000327239.4	+	5	1809	c.305G>A	c.(304-306)gGg>gAg	p.G102E	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000436483.2_Missense_Mutation_p.G102E|DHRS9_ENST00000602501.1_Missense_Mutation_p.G102E|DHRS9_ENST00000432060.2_Missense_Mutation_p.G162E|DHRS9_ENST00000428522.1_Missense_Mutation_p.G102E|DHRS9_ENST00000357546.2_Missense_Mutation_p.G102E|DHRS9_ENST00000412271.1_Missense_Mutation_p.G102E	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	102					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AACCAAGTTGGGGAGAAAGGT	0.483																																						dbGAP											0													38.0	38.0	38.0					2																	169938396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.305G>A	2.37:g.169938396G>A	ENSP00000316670:p.Gly102Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G162E	ENST00000327239.4	37	c.485	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846712	0.91277	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.63	5.63	0.86233	NAD(P)-binding domain (1);	0.046223	0.85682	D	0.000000	D	0.94850	0.8336	M	0.64080	1.96	0.58432	D	0.999991	D;D	0.55172	0.966;0.97	P;P	0.58391	0.838;0.734	D	0.93693	0.7009	10	0.40728	T	0.16	.	14.2686	0.66138	0.0735:0.0:0.9265:0.0	.	162;102	B7Z416;Q9BPW9	.;DHRS9_HUMAN	E	102;102;162;102;102;102	ENSP00000316670:G102E;ENSP00000350154:G102E;ENSP00000389241:G162E;ENSP00000388564:G102E;ENSP00000407167:G102E;ENSP00000407747:G102E	ENSP00000316670:G102E	G	+	2	0	DHRS9	169646642	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.243000	0.72384	2.818000	0.97014	0.591000	0.81541	GGG	DHRS9	-	pfam_DH_sc/Rdtase_SDR	ENSG00000073737		0.483	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	190	0.00	0	G	NM_005771		169938396	169938396	+1	no_errors	ENST00000432060	ensembl	human	known	69_37n	missense	175	13.37	27	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38840839	38840839	+	Silent	SNP	C	C	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr6:38840839C>T	ENST00000359357.3	+	49	6998	c.6744C>T	c.(6742-6744)atC>atT	p.I2248I	DNAH8_ENST00000441566.1_Silent_p.I2212I|DNAH8_ENST00000449981.2_Silent_p.I2465I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2248	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCACAATATCGAGAACGCCT	0.483																																						dbGAP											0													102.0	107.0	105.0					6																	38840839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6744C>T	6.37:g.38840839C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I2248	ENST00000359357.3	37	c.6744		6																																																																																			DNAH8	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000124721		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	229	0.00	0	C	NM_001206927		38840839	38840839	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	245	16.61	49	SNP	0.951	T
FRMD5	84978	genome.wustl.edu	37	15	44166630	44166630	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr15:44166630G>T	ENST00000417257.1	-	14	1342	c.1166C>A	c.(1165-1167)tCc>tAc	p.S389Y	FRMD5_ENST00000402883.1_Missense_Mutation_p.S389Y|FRMD5_ENST00000484674.1_Missense_Mutation_p.S295Y	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	389						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CACTGGTGTGGAATGGGCACT	0.542																																						dbGAP											0													67.0	62.0	64.0					15																	44166630		2198	4298	6496	-	-	-	SO:0001583	missense	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1166C>A	15.37:g.44166630G>T	ENSP00000403067:p.Ser389Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.S389Y	ENST00000417257.1	37	c.1166	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012672	0.54468	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86366	-1.92;-2.11;-2.09	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	M	0.71581	2.175	0.80722	D	1	P;B;P;P	0.42620	0.631;0.28;0.638;0.785	B;B;B;B	0.42422	0.23;0.115;0.246;0.387	D	0.89494	0.3759	10	0.66056	D	0.02	.	18.7972	0.91999	0.0:0.0:1.0:0.0	.	374;389;389;62	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	Y	389;389;355	ENSP00000403067:S389Y;ENSP00000384142:S389Y;ENSP00000399684:S355Y	ENSP00000384142:S389Y	S	-	2	0	FRMD5	41953922	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	9.309000	0.96252	2.780000	0.95670	0.655000	0.94253	TCC	FRMD5	-	NULL	ENSG00000171877		0.542	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	87	0.00	0	G	NM_032892		44166630	44166630	-1	no_errors	ENST00000417257	ensembl	human	known	69_37n	missense	112	11.81	15	SNP	1.000	T
GABRD	2563	genome.wustl.edu	37	1	1956773	1956774	+	Splice_Site	INS	-	-	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr1:1956773_1956774insC	ENST00000378585.4	+	3	265_266	c.182_183insC	c.(181-186)ggcccc>ggCcccc	p.GP61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCTTGCAGGCCCCCCCGTGA	0.644																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)																																								-	-	-	SO:0001630	splice_region_variant	0			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1->C	1.37:g.1956780_1956780dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4N9	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V64fs	ENST00000378585.4	37	c.182_183	CCDS36.1	1																																																																																			GABRD	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000187730		0.644	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	9	0.00	0	-	NM_000815	Frame_Shift_Ins	1956773	1956774	+1	no_errors	ENST00000378585	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.996:0.018	C
GRIK2	2898	genome.wustl.edu	37	6	102337592	102337592	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr6:102337592G>C	ENST00000421544.1	+	11	2092	c.1602G>C	c.(1600-1602)atG>atC	p.M534I	GRIK2_ENST00000413795.1_Missense_Mutation_p.M534I|GRIK2_ENST00000369138.1_Missense_Mutation_p.M534I|GRIK2_ENST00000369134.4_Missense_Mutation_p.M485I|GRIK2_ENST00000318991.6_Missense_Mutation_p.M534I|GRIK2_ENST00000369137.3_Missense_Mutation_p.M534I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	534					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGCCCTTTATGACACTTGGAA	0.438																																						dbGAP											0													149.0	144.0	146.0					6																	102337592		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1602G>C	6.37:g.102337592G>C	ENSP00000397026:p.Met534Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M534I	ENST00000421544.1	37	c.1602	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.196009	0.94960	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	D;D;D;T;D;D;T	0.97209	-4.29;-4.29;-4.29;2.78;-4.29;-4.29;2.78	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	L	0.58969	1.84	0.58432	D	0.999995	P;P;P	0.49358	0.923;0.874;0.923	P;P;P	0.57776	0.827;0.676;0.827	D	0.98115	1.0422	10	0.87932	D	0	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	534;534;534	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	534;534;534;534;534;534;485;133	ENSP00000397026:M534I;ENSP00000405596:M534I;ENSP00000358134:M534I;ENSP00000358133:M534I;ENSP00000313276:M534I;ENSP00000358130:M485I;ENSP00000407140:M133I	ENSP00000313276:M534I	M	+	3	0	GRIK2	102444285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	ATG	GRIK2	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.438	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	366	0.00	0	G			102337592	102337592	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	245	18.60	56	SNP	1.000	C
HNF1B	6928	genome.wustl.edu	37	17	36091721	36091721	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr17:36091721T>C	ENST00000225893.4	-	4	1271	c.910A>G	c.(910-912)Agg>Ggg	p.R304G	HNF1B_ENST00000427275.2_Missense_Mutation_p.R278G|HNF1B_ENST00000560016.1_Missense_Mutation_p.R304G|HNF1B_ENST00000561193.1_Missense_Mutation_p.R278G	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	304					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCCTCCTTCCTGCGGTTTGCA	0.607																																					Colon(71;102 1179 9001 27917 43397)	dbGAP											0													141.0	112.0	122.0					17																	36091721		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.910A>G	17.37:g.36091721T>C	ENSP00000225893:p.Arg304Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.R304G	ENST00000225893.4	37	c.910	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740827	0.69304	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.99304	-5.72;-5.72	5.32	4.21	0.49690	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.090138	0.64402	D	0.000001	D	0.99067	0.9680	M	0.80422	2.495	0.80722	D	1	P;B;D	0.61080	0.628;0.262;0.989	P;B;P	0.57620	0.454;0.185;0.824	D	0.98925	1.0785	10	0.72032	D	0.01	-0.0379	10.74	0.46147	0.0:0.0:0.3026:0.6974	.	278;304;304	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	G	304;278;304;192	ENSP00000225893:R304G;ENSP00000412212:R278G	ENSP00000225893:R304G	R	-	1	2	HNF1B	33165834	0.934000	0.31675	0.999000	0.59377	0.998000	0.95712	1.305000	0.33493	0.999000	0.39023	0.533000	0.62120	AGG	HNF1B	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000108753		0.607	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	42	0.00	0	T	NM_000458		36091721	36091721	-1	no_errors	ENST00000225893	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	0.983	C
IGHV3-66	28412	genome.wustl.edu	37	14	107131232	107131232	+	RNA	SNP	C	C	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr14:107131232C>A	ENST00000390632.2	-	0	227									immunoglobulin heavy variable 3-66																		CATGTAGTTGCTACTGACGGT	0.587																																						dbGAP											0													36.0	39.0	38.0					14																	107131232		1893	4064	5957	-	-	-			0			X92218		14q32.33	2012-02-08			ENSG00000211972	ENSG00000211972		"""Immunoglobulins / IGH locus"""	5619	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151880		14.37:g.107131232C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S50I	ENST00000390632.2	37	c.149		14																																																																																			IGHV3-66	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211972		0.587	IGHV3-66-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-66	HGNC	IG_V_gene	OTTHUMT00000324225.1	494	0.00	0	C	NG_001019		107131232	107131232	-1	no_stop_codon	ENST00000390632	ensembl	human	known	69_37n	missense	416	25.31	141	SNP	0.122	A
KCNB2	9312	genome.wustl.edu	37	8	73848282	73848282	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr8:73848282G>A	ENST00000523207.1	+	3	1280	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	231					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATGACAACCGCCAATTAGCA	0.458																																						dbGAP											0													190.0	166.0	174.0					8																	73848282		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.692G>A	8.37:g.73848282G>A	ENSP00000430846:p.Arg231His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.R231H	ENST00000523207.1	37	c.692	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410889	0.25465	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-3.2	0.05156	.	0.775777	0.10923	N	0.619234	D	0.93210	0.7837	N	0.12182	0.205	0.25711	N	0.985481	B	0.10296	0.003	B	0.06405	0.002	T	0.72147	-0.4378	10	0.56958	D	0.05	.	24.6376	0.99991	0.0:0.279:0.721:0.0	.	231	Q92953	KCNB2_HUMAN	H	231	ENSP00000430846:R231H	ENSP00000430846:R231H	R	+	2	0	KCNB2	74010836	0.865000	0.29922	0.041000	0.18516	0.017000	0.09413	1.753000	0.38359	-0.200000	0.10300	-0.211000	0.12701	CGC	KCNB2	-	NULL	ENSG00000182674		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	217	0.00	0	G	NM_004770		73848282	73848282	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	missense	230	36.29	131	SNP	0.368	A
KLHL7	55975	genome.wustl.edu	37	7	23212573	23212573	+	Silent	SNP	T	T	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr7:23212573T>G	ENST00000339077.5	+	10	1629	c.1386T>G	c.(1384-1386)acT>acG	p.T462T	AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Silent_p.T414T|KLHL7_ENST00000539124.1_Silent_p.T386T|KLHL7_ENST00000322231.7_Silent_p.T440T|KLHL7_ENST00000545443.1_Silent_p.T440T|KLHL7_ENST00000542558.1_Silent_p.T237T	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	462					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCAGATGGACTGAGCTGTGTC	0.353																																						dbGAP											0													224.0	210.0	215.0					7																	23212573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1386T>G	7.37:g.23212573T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T462	ENST00000339077.5	37	c.1386	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256343	0.22965	.	.	ENSG00000122550	ENST00000536369	.	.	.	5.68	3.14	0.36123	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54820	-0.8236	5	0.42905	T	0.14	.	6.8822	0.24179	0.3688:0.0:0.1282:0.503	.	.	.	.	R	382	.	ENSP00000442363:L382R	L	+	2	0	KLHL7	23179098	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.446000	0.21694	0.941000	0.37499	0.477000	0.44152	CTG	KLHL7	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.353	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	183	0.00	0	T	NM_018846		23212573	23212573	+1	no_errors	ENST00000339077	ensembl	human	known	69_37n	silent	153	42.48	113	SNP	1.000	G
MRPL11	65003	genome.wustl.edu	37	11	66204842	66204842	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr11:66204842C>G	ENST00000310999.7	-	3	385	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	MRPL11_ENST00000430466.2_Missense_Mutation_p.E72Q|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_Missense_Mutation_p.E98Q	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	98					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GCCCCCTTTTCAATCCCAGCT	0.488																																						dbGAP											0													60.0	61.0	61.0					11																	66204842		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.292G>C	11.37:g.66204842C>G	ENSP00000308897:p.Glu98Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ	p.E98Q	ENST00000310999.7	37	c.292	CCDS8139.1	11	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988905	0.53934	.	.	ENSG00000174547	ENST00000310999;ENST00000430466;ENST00000329819	.	.	.	5.61	4.68	0.58851	Ribosomal protein L11, C-terminal (3);	0.050133	0.85682	D	0.000000	T	0.48589	0.1508	N	0.25332	0.735	0.46849	D	0.999222	B;P;B	0.35612	0.437;0.512;0.371	B;P;P	0.45119	0.404;0.47;0.47	T	0.40308	-0.9570	9	0.02654	T	1	-33.2621	14.1663	0.65477	0.0:0.8489:0.1511:0.0	.	72;98;98	Q9Y3B7-2;Q9Y3B7;A6NLT0	.;RM11_HUMAN;.	Q	98;72;98	.	ENSP00000308897:E98Q	E	-	1	0	MRPL11	65961418	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.579000	0.74036	1.313000	0.45069	0.655000	0.94253	GAA	MRPL11	-	pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ	ENSG00000174547		0.488	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL11	HGNC	protein_coding	OTTHUMT00000393098.2	66	0.00	0	C	NM_016050		66204842	66204842	-1	no_errors	ENST00000310999	ensembl	human	known	69_37n	missense	46	66.90	95	SNP	1.000	G
NLRP5	126206	genome.wustl.edu	37	19	56549506	56549506	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr19:56549506G>T	ENST00000390649.3	+	10	2731	c.2731G>T	c.(2731-2733)Gta>Tta	p.V911L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	911					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGACCAGGGAGTAATGCCTCT	0.527																																						dbGAP											0													130.0	132.0	132.0					19																	56549506		2102	4221	6323	-	-	-	SO:0001583	missense	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2731G>T	19.37:g.56549506G>T	ENSP00000375063:p.Val911Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V911L	ENST00000390649.3	37	c.2731	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357455	0.11239	.	.	ENSG00000171487	ENST00000390649	T	0.52057	0.68	3.59	-7.18	0.01505	.	1.647930	0.04058	N	0.305895	T	0.37972	0.1023	L	0.48642	1.525	0.09310	N	1	B	0.24533	0.105	B	0.31869	0.137	T	0.31586	-0.9938	10	0.44086	T	0.13	.	3.7936	0.08730	0.329:0.1444:0.4325:0.0941	.	911	P59047	NALP5_HUMAN	L	911	ENSP00000375063:V911L	ENSP00000375063:V911L	V	+	1	0	NLRP5	61241318	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.635000	0.05471	-2.875000	0.00321	-0.192000	0.12808	GTA	NLRP5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171487		0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	170	0.58	1	G	NM_153447		56549506	56549506	+1	no_errors	ENST00000390649	ensembl	human	known	69_37n	missense	164	24.42	53	SNP	0.000	T
NRXN1	9378	genome.wustl.edu	37	2	50149131	50149131	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr2:50149131T>C	ENST00000406316.2	-	22	5861	c.4385A>G	c.(4384-4386)aAa>aGa	p.K1462R	NRXN1_ENST00000402717.3_Missense_Mutation_p.K1484R|NRXN1_ENST00000342183.5_Missense_Mutation_p.K427R|NRXN1_ENST00000401710.1_Missense_Mutation_p.K480R|NRXN1_ENST00000405472.3_Missense_Mutation_p.K1484R|NRXN1_ENST00000406859.3_Missense_Mutation_p.K1462R|NRXN1_ENST00000404971.1_Missense_Mutation_p.K1532R|NRXN1_ENST00000401669.2_Missense_Mutation_p.K1492R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1462					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTGGAGCTTTTCGCACTGCT	0.393																																						dbGAP											0													169.0	151.0	157.0					2																	50149131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4385A>G	2.37:g.50149131T>C	ENSP00000384311:p.Lys1462Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1484R	ENST00000406316.2	37	c.4451	CCDS54360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.54|19.54	3.847480|3.847480	0.71603|0.71603	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T|T;T;T;T;T;T;T;T	0.67171|0.72835	-0.25|0.82;2.03;0.01;0.0;-0.69;-0.58;-0.29;-0.13	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.679042|0.679042	0.09895|0.09895	U|U	0.741869|0.741869	D|D	0.82981|0.82981	0.5155|0.5155	L|L	0.58810|0.58810	1.83|1.83	0.39929|0.39929	D|D	0.974269|0.974269	.|P;P;D;D;P;P	.|0.71674	.|0.927;0.692;0.974;0.998;0.858;0.811	.|D;B;P;D;P;P	.|0.78314	.|0.953;0.39;0.782;0.991;0.595;0.828	T|T	0.80261|0.80261	-0.1456|-0.1456	7|10	.|0.72032	.|D	.|0.01	.|.	15.6649|15.6649	0.77221|0.77221	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|127;1532;427;1462;1481;124	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	E|R	195|427;381;480;1532;1462;1484;1492;1533;1484;1462	ENSP00000396738:K195E|ENSP00000341184:K427R;ENSP00000385580:K480R;ENSP00000385142:K1532R;ENSP00000384311:K1462R;ENSP00000434015:K1484R;ENSP00000385017:K1492R;ENSP00000385434:K1484R;ENSP00000385681:K1462R	.|ENSP00000341184:K427R	K|K	-|-	1|2	0|0	NRXN1|NRXN1	50002635|50002635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.868000|7.868000	0.87116|0.87116	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	AAA|AAA	NRXN1	-	NULL	ENSG00000179915		0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	270	0.00	0	T			50149131	50149131	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	204	11.69	27	SNP	1.000	C
OR10R2	343406	genome.wustl.edu	37	1	158449837	158449837	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr1:158449837T>C	ENST00000368152.1	+	1	170	c.170T>C	c.(169-171)gTc>gCc	p.V57A	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGTATCTAGTCATTCTTAGT	0.438																																						dbGAP											0													175.0	157.0	163.0					1																	158449837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.170T>C	1.37:g.158449837T>C	ENSP00000357134:p.Val57Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V57A	ENST00000368152.1	37	c.170	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	t	1.720	-0.496849	0.04291	.	.	ENSG00000198965	ENST00000368152	T	0.00596	6.32	4.19	0.51	0.16983	.	.	.	.	.	T	0.00178	0.0005	L	0.31804	0.96	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17961	-1.0352	9	0.31617	T	0.26	.	9.7152	0.40270	0.0:0.2407:0.0:0.7593	.	57	Q8NGX6	O10R2_HUMAN	A	57	ENSP00000357134:V57A	ENSP00000357134:V57A	V	+	2	0	OR10R2	156716461	0.006000	0.16342	0.008000	0.14137	0.196000	0.23810	1.669000	0.37492	-0.410000	0.07542	-1.431000	0.01090	GTC	OR10R2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000198965		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	510	0.00	0	T	NM_001004472		158449837	158449837	+1	no_errors	ENST00000368152	ensembl	human	known	69_37n	missense	904	13.16	137	SNP	0.061	C
PCED1A	64773	genome.wustl.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	superfamily_Esterase_SGNH_hydro-type	p.P423fs	ENST00000360652.2	37	c.1270_1269	CCDS13035.1	20																																																																																			PCED1A	-	NULL	ENSG00000132635		0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	29	0.00	0	-	NM_022760		2816203	2816204	-1	no_errors	ENST00000360652	ensembl	human	known	69_37n	frame_shift_ins	43	10.42	5	INS	0.660:0.001	C
PLCE1	51196	genome.wustl.edu	37	10	96014009	96014009	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr10:96014009G>T	ENST00000371380.3	+	9	3577	c.3342G>T	c.(3340-3342)gaG>gaT	p.E1114D	PLCE1_ENST00000371385.3_Missense_Mutation_p.E806D|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1114D|PLCE1_ENST00000371375.1_Missense_Mutation_p.E806D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1114					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCACAAAGAGTGTCGAAGCC	0.438																																						dbGAP											0													105.0	109.0	108.0					10																	96014009		1999	4168	6167	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3342G>T	10.37:g.96014009G>T	ENSP00000360431:p.Glu1114Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.E1114D	ENST00000371380.3	37	c.3342	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512252	0.64522	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.03	2.14	0.27477	.	0.068543	0.56097	N	0.000029	T	0.45316	0.1336	L	0.51422	1.61	0.31167	N	0.703729	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.79784	0.985;0.993;0.883	T	0.46484	-0.9188	10	0.42905	T	0.14	.	4.2218	0.10561	0.3831:0.1652:0.4517:0.0	.	1114;806;1114	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1114;1114;806;806	ENSP00000260766:E1114D;ENSP00000360431:E1114D;ENSP00000360438:E806D;ENSP00000360426:E806D	ENSP00000260766:E1114D	E	+	3	2	PLCE1	96003999	0.997000	0.39634	0.987000	0.45799	0.860000	0.49131	0.457000	0.21875	0.162000	0.19483	-0.182000	0.12963	GAG	PLCE1	-	NULL	ENSG00000138193		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	230	0.00	0	G	NM_016341		96014009	96014009	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	129	51.69	138	SNP	0.999	T
POLR1C	9533	genome.wustl.edu	37	6	43488439	43488439	+	Silent	SNP	C	C	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr6:43488439C>G	ENST00000372389.3	+	7	820	c.732C>G	c.(730-732)ccC>ccG	p.P244P	POLR1C_ENST00000372344.2_Intron|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Silent_p.P244P	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	244					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGCTTGAGCCCGTGGAAGGGG	0.542																																						dbGAP											0													105.0	104.0	104.0					6																	43488439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.732C>G	6.37:g.43488439C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75395|Q5JTE3	Silent	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.P244	ENST00000372389.3	37	c.732	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.542	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	92	0.00	0	C	NM_004875		43488439	43488439	+1	no_errors	ENST00000372389	ensembl	human	known	69_37n	silent	101	23.48	31	SNP	0.130	G
PRTG	283659	genome.wustl.edu	37	15	55972757	55972757	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr15:55972757T>A	ENST00000389286.4	-	5	793	c.746A>T	c.(745-747)cAt>cTt	p.H249L	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TACAGTCTGATGAAGAGATGT	0.393																																						dbGAP											0													165.0	157.0	159.0					15																	55972757		1870	4108	5978	-	-	-	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.746A>T	15.37:g.55972757T>A	ENSP00000373937:p.His249Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H249L	ENST00000389286.4	37	c.746	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501207	0.85176	.	.	ENSG00000166450	ENST00000389286	T	0.66815	-0.23	5.42	5.42	0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	L	0.33293	1	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.76697	-0.2864	10	0.87932	D	0	-17.2296	14.6488	0.68780	0.0:0.0:0.0:1.0	.	249	Q2VWP7	PRTG_HUMAN	L	249	ENSP00000373937:H249L	ENSP00000373937:H249L	H	-	2	0	PRTG	53760049	1.000000	0.71417	0.977000	0.42913	0.910000	0.53928	7.638000	0.83328	2.060000	0.61445	0.377000	0.23210	CAT	PRTG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000166450		0.393	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	344	0.00	0	T	NM_173814		55972757	55972757	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	missense	241	29.74	102	SNP	1.000	A
RBM24	221662	genome.wustl.edu	37	6	17292294	17292294	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr6:17292294G>A	ENST00000379052.5	+	4	891	c.655G>A	c.(655-657)Gct>Act	p.A219T	RBM24_ENST00000425446.2_Missense_Mutation_p.A161T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.A174T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	219	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			agctgctgccgctgcagcATT	0.582																																						dbGAP											0													34.0	33.0	33.0					6																	17292294		1749	3569	5318	-	-	-	SO:0001583	missense	0			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.655G>A	6.37:g.17292294G>A	ENSP00000368341:p.Ala219Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A219T	ENST00000379052.5	37	c.655	CCDS47378.1	6	.	.	.	.	.	.	.	.	.	.	G	9.298	1.052440	0.19907	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.33216	1.42;1.42;1.42	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.54323	1.7	0.46185	D	0.998918	D;D	0.57899	0.967;0.981	P;B	0.45195	0.473;0.281	T	0.02683	-1.1124	10	0.54805	T	0.06	-14.9268	13.7593	0.62956	0.0:0.0:1.0:0.0	.	174;219	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	T	219;161;174	ENSP00000368341:A219T;ENSP00000396898:A161T;ENSP00000319551:A174T	ENSP00000319551:A174T	A	+	1	0	RBM24	17400273	1.000000	0.71417	0.977000	0.42913	0.931000	0.56810	6.788000	0.75105	2.608000	0.88229	0.563000	0.77884	GCT	RBM24	-	NULL	ENSG00000112183		0.582	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM24	HGNC	protein_coding	OTTHUMT00000039946.2	67	0.00	0	G	NM_153020		17292294	17292294	+1	no_errors	ENST00000379052	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.933	A
RNF213	57674	genome.wustl.edu	37	17	78320721	78320721	+	Silent	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr17:78320721G>A	ENST00000582970.1	+	29	8729	c.8586G>A	c.(8584-8586)ccG>ccA	p.P2862P	RNF213_ENST00000336301.6_Silent_p.P935P|RNF213_ENST00000508628.2_Silent_p.P2911P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2862					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCTGCACCCGCTGCTGGAAG	0.592																																						dbGAP											0													52.0	47.0	48.0					17																	78320721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8586G>A	17.37:g.78320721G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P2862	ENST00000582970.1	37	c.8586	CCDS58606.1	17																																																																																			RNF213	-	smart_AAA+_ATPase	ENSG00000173821		0.592	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	24	0.00	0	G	NM_020914		78320721	78320721	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	18	20.83	5	SNP	0.000	A
ROR2	4920	genome.wustl.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)gggcacfs	p.H362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.H222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1084dupG	9.37:g.94493297_94493297dupC	ENSP00000364860:p.His362fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.H361fs	ENST00000375708.3	37	c.1084_1083	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000169071		0.629	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	29	0.00	0	-			94493291	94493292	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:0.825	C
RYR1	6261	genome.wustl.edu	37	19	39008172	39008172	+	Missense_Mutation	SNP	C	C	T	rs201276068		TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr19:39008172C>T	ENST00000359596.3	+	66	9859	c.9859C>T	c.(9859-9861)Cgc>Tgc	p.R3287C	RYR1_ENST00000360985.3_Missense_Mutation_p.R3287C|RYR1_ENST00000355481.4_Missense_Mutation_p.R3287C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3287					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGGTGGGAGCGCGGGCCCGA	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		12145	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													37.0	31.0	33.0					19																	39008172		2203	4298	6501	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9859C>T	19.37:g.39008172C>T	ENSP00000352608:p.Arg3287Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R3287C	ENST00000359596.3	37	c.9859	CCDS33011.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.065	0.768926	0.15983	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88664	-2.41;-2.41;-2.41	3.83	2.8	0.32819	.	0.000000	0.64402	U	0.000003	D	0.89033	0.6600	L	0.44542	1.39	0.48452	D	0.999659	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.57960	0.83;0.764;0.585	D	0.87211	0.2247	10	0.45353	T	0.12	.	10.6282	0.45521	0.0:0.903:0.0:0.097	.	3287;3287;3287	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	3287;3287;3287;207	ENSP00000352608:R3287C;ENSP00000347667:R3287C;ENSP00000354254:R3287C	ENSP00000347667:R3287C	R	+	1	0	RYR1	43700012	0.983000	0.35010	1.000000	0.80357	0.370000	0.29829	1.835000	0.39181	0.814000	0.34374	0.205000	0.17691	CGC	RYR1	-	NULL	ENSG00000196218		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	18	0.00	0	C			39008172	39008172	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	T
SCARF1	8578	genome.wustl.edu	37	17	1540304	1540305	+	Frame_Shift_Ins	INS	-	-	C	rs201292021		TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr17:1540304_1540305insC	ENST00000263071.4	-	9	1465_1466	c.1416_1417insG	c.(1414-1419)gggacafs	p.T473fs	SCARF1_ENST00000571272.1_Frame_Shift_Ins_p.T473fs|SCARF1_ENST00000348987.3_Frame_Shift_Ins_p.T387fs	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	473					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGTCAGTGTCCCCCAGACCT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1417dupG	17.37:g.1540309_1540309dupC	ENSP00000263071:p.Thr473fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Frame_Shift_Ins	INS	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	p.T472fs	ENST00000263071.4	37	c.1417_1416	CCDS11007.1	17																																																																																			SCARF1	-	NULL	ENSG00000074660		0.649	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	27	0.00	0	-	NM_003693		1540304	1540305	-1	no_errors	ENST00000263071	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.974:0.963	C
SEMG1	6406	genome.wustl.edu	37	20	43837007	43837007	+	Nonsense_Mutation	SNP	C	C	T	rs183367221	byFrequency	TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr20:43837007C>T	ENST00000372781.3	+	2	1126	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SEMG1_ENST00000244069.6_Nonsense_Mutation_p.R297*	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	357	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGAAGAAAGACGACTCCACTA	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		23181	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													83.0	76.0	78.0					20																	43837007		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1069C>T	20.37:g.43837007C>T	ENSP00000361867:p.Arg357*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Nonsense_Mutation	SNP	pfam_Semenogelin	p.R357*	ENST00000372781.3	37	c.1069	CCDS13345.1	20	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	10.52	1.374601	0.24857	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	.	.	.	1.35	-2.69	0.06022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	2.1234	0.03731	0.2472:0.3703:0.0:0.3825	.	.	.	.	X	297;357	.	ENSP00000244069:R297X	R	+	1	2	SEMG1	43270421	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.552000	0.02176	-1.041000	0.03266	-0.490000	0.04691	CGA	SEMG1	-	pfam_Semenogelin	ENSG00000124233		0.413	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	HGNC	protein_coding	OTTHUMT00000079416.3	175	0.00	0	C	NM_003007		43837007	43837007	+1	no_errors	ENST00000372781	ensembl	human	known	69_37n	nonsense	392	14.41	66	SNP	0.000	T
SIGLEC10	89790	genome.wustl.edu	37	19	51918504	51918504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr19:51918504C>A	ENST00000339313.5	-	7	1377	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.G421*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.G338*|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.G363*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.G273*|SIGLEC10_ENST00000353836.5_Nonsense_Mutation_p.G421*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.G363*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.G331*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.G373*|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	421	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGAACTCTCCTTCGTGCTCC	0.667																																						dbGAP											0													66.0	61.0	63.0					19																	51918504		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1261G>T	19.37:g.51918504C>A	ENSP00000345243:p.Gly421*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G421*	ENST00000339313.5	37	c.1261	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	22.1	4.250862	0.80135	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	.	.	.	4.71	4.71	0.59529	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1495	0.59482	0.0:1.0:0.0:0.0	.	.	.	.	X	421;338;273;421;363;331;363;373;421	.	ENSP00000345243:G421X	G	-	1	0	SIGLEC10	56610316	0.362000	0.24980	0.486000	0.27416	0.144000	0.21451	2.150000	0.42254	2.169000	0.68431	0.462000	0.41574	GGA	SIGLEC10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142512		0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	57	0.00	0	C	NM_033130		51918504	51918504	-1	no_errors	ENST00000339313	ensembl	human	known	69_37n	nonsense	49	24.62	16	SNP	0.937	A
SOX13	9580	genome.wustl.edu	37	1	204086755	204086756	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr1:204086755_204086756insC	ENST00000367204.1	+	7	804_805	c.695_696insC	c.(694-699)ttccccfs	p.FP232fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	232	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCCCAGCCTTCCCCCCAAGCC	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.701dupC	1.37:g.204086761_204086761dupC	ENSP00000356172:p.Phe232fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S235fs	ENST00000367204.1	37	c.695_696	CCDS44299.1	1																																																																																			SOX13	-	NULL	ENSG00000143842		0.569	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	24	0.00	0	-	NM_005686		204086755	204086756	+1	no_errors	ENST00000367204	ensembl	human	known	69_37n	frame_shift_ins	43	12.24	6	INS	1.000:0.972	C
SPECC1	92521	genome.wustl.edu	37	17	20156817	20156817	+	Splice_Site	SNP	G	G	A			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr17:20156817G>A	ENST00000261503.5	+	10	2649		c.e10-1		SPECC1_ENST00000395530.2_Splice_Site|SPECC1_ENST00000395527.4_Splice_Site|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Splice_Site	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTTTTTACAGAGGCATTCGA	0.502																																						dbGAP											0													78.0	64.0	69.0					17																	20156817		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2599-1G>A	17.37:g.20156817G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	-	e9-1	ENST00000261503.5	37	c.2599-1	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491718	0.26774	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2978	0.60307	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPECC1	20097409	1.000000	0.71417	0.995000	0.50966	0.085000	0.17905	4.798000	0.62510	2.593000	0.87608	0.650000	0.86243	.	SPECC1	-	-	ENSG00000128487		0.502	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	53	0.00	0	G	NM_152904	Intron	20156817	20156817	+1	no_errors	ENST00000261503	ensembl	human	known	69_37n	splice_site	61	20.78	16	SNP	0.997	A
SRRT	51593	genome.wustl.edu	37	7	100482032	100482032	+	Silent	SNP	C	C	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr7:100482032C>T	ENST00000347433.4	+	7	959	c.801C>T	c.(799-801)atC>atT	p.I267I	SRRT_ENST00000388793.4_Silent_p.I267I|SRRT_ENST00000432932.1_Silent_p.I267I|SRRT_ENST00000457580.2_Silent_p.I267I			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	267	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCTTCGCATCCTGGAGCAGG	0.612																																						dbGAP											0													39.0	36.0	37.0					7																	100482032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.801C>T	7.37:g.100482032C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.I267	ENST00000347433.4	37	c.801	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	10	0.00	0	C	NM_015908		100482032	100482032	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	silent	12	36.84	7	SNP	1.000	T
WBP4	11193	genome.wustl.edu	37	13	41656885	41656885	+	Silent	SNP	A	A	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr13:41656885A>G	ENST00000379487.3	+	10	1366	c.966A>G	c.(964-966)gtA>gtG	p.V322V	WBP4_ENST00000542082.1_Silent_p.V301V	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	322					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		ATGAGTATGTATCAACTTCAG	0.408																																						dbGAP											0													69.0	70.0	69.0					13																	41656885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.966A>G	13.37:g.41656885A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4M2|Q32P29	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin	p.V322	ENST00000379487.3	37	c.966	CCDS9375.1	13																																																																																			WBP4	-	NULL	ENSG00000120688		0.408	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	159	0.00	0	A	NM_007187		41656885	41656885	+1	no_errors	ENST00000379487	ensembl	human	known	69_37n	silent	142	41.32	100	SNP	0.005	G
ZDHHC17	23390	genome.wustl.edu	37	12	77199202	77199202	+	Silent	SNP	C	C	T			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr12:77199202C>T	ENST00000426126.2	+	3	952	c.303C>T	c.(301-303)aaC>aaT	p.N101N	ZDHHC17_ENST00000334822.5_Silent_p.N101N|ZDHHC17_ENST00000359019.4_Silent_p.N51N	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	101					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCATCAATAACAGAATAGATT	0.318																																						dbGAP											0													53.0	49.0	50.0					12																	77199202		1812	4077	5889	-	-	-	SO:0001819	synonymous_variant	0			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.303C>T	12.37:g.77199202C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T99I	ENST00000426126.2	37	c.296	CCDS44946.1	12																																																																																			ZDHHC17	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000186908		0.318	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1	40	0.00	0	C	NM_015336		77199202	77199202	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000552453	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	T
ZNF454	285676	genome.wustl.edu	37	5	178392799	178392799	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr5:178392799A>G	ENST00000320129.3	+	5	1697	c.1394A>G	c.(1393-1395)gAa>gGa	p.E465G	ZNF454_ENST00000519564.1_Missense_Mutation_p.E465G	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	465					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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CATACTAGGGAAAAACCTTAC	0.383																																						dbGAP											0													76.0	81.0	79.0					5																	178392799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1394A>G	5.37:g.178392799A>G	ENSP00000326249:p.Glu465Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E465G	ENST00000320129.3	37	c.1394	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250749	0.39797	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.27557	1.66;1.66	4.46	4.46	0.54185	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000719	T	0.50514	0.1620	M	0.65320	2	0.42869	D	0.994136	D	0.89917	1.0	D	0.79108	0.992	T	0.54549	-0.8277	10	0.87932	D	0	-20.6115	11.9978	0.53214	1.0:0.0:0.0:0.0	.	465	Q8N9F8	ZN454_HUMAN	G	465	ENSP00000326249:E465G;ENSP00000430354:E465G	ENSP00000326249:E465G	E	+	2	0	ZNF454	178325405	1.000000	0.71417	0.994000	0.49952	0.019000	0.09904	7.087000	0.76893	2.006000	0.58801	0.528000	0.53228	GAA	ZNF454	-	pfscan_Znf_C2H2	ENSG00000178187		0.383	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	231	0.00	0	A	XM_209718		178392799	178392799	+1	no_errors	ENST00000320129	ensembl	human	known	69_37n	missense	385	18.95	90	SNP	1.000	G
ZNF805	390980	genome.wustl.edu	37	19	57764473	57764473	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08G-01A-11W-A019-09	TCGA-A8-A08G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8da61928-e935-4a33-8e46-840e637163d7	74a3a4af-c93a-4fcd-af11-1f5eeb847c3c	g.chr19:57764473A>G	ENST00000414468.2	+	4	286	c.286A>G	c.(286-288)Acc>Gcc	p.T96A	ZNF805_ENST00000354309.4_5'UTR|ZNF805_ENST00000535550.1_5'UTR	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CACAGAACCTACCACCTGTGA	0.463																																						dbGAP											0													91.0	86.0	87.0					19																	57764473		692	1591	2283	-	-	-	SO:0001583	missense	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.286A>G	19.37:g.57764473A>G	ENSP00000412999:p.Thr96Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T96A	ENST00000414468.2	37	c.286	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	A	7.923	0.738959	0.15642	.	.	ENSG00000204524	ENST00000414468	T	0.29917	1.55	4.06	0.751	0.18392	.	.	.	.	.	T	0.17619	0.0423	L	0.40543	1.245	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.34800	-0.9814	9	0.08179	T	0.78	.	2.8424	0.05533	0.6034:0.0:0.2103:0.1863	.	96	Q5CZA5	ZN805_HUMAN	A	96	ENSP00000412999:T96A	ENSP00000412999:T96A	T	+	1	0	ZNF805	62456285	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.313000	0.08103	0.039000	0.15632	0.482000	0.46254	ACC	ZNF805	-	NULL	ENSG00000204524		0.463	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	18	0.00	0	A	NM_001023563		57764473	57764473	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.000	G
