#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
ADD2	119	genome.wustl.edu	37	2	70923448	70923448	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr2:70923448A>G	ENST00000264436.4	-	5	847	c.403T>C	c.(403-405)Tgc>Cgc	p.C135R	ADD2_ENST00000407644.2_Missense_Mutation_p.C135R|ADD2_ENST00000355733.3_Missense_Mutation_p.C135R|ADD2_ENST00000413157.2_Missense_Mutation_p.C135R|ADD2_ENST00000430656.1_Missense_Mutation_p.C151R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	135					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGATCTTGCACCGCATGAGC	0.582																																						dbGAP											0													96.0	77.0	83.0					2																	70923448		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.403T>C	2.37:g.70923448A>G	ENSP00000264436:p.Cys135Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.C135R	ENST00000264436.4	37	c.403	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482389	0.84747	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.54071	2.06;2.06;2.06;1.7;2.06;2.06;2.06;0.59	4.98	4.98	0.66077	Class II aldolase/adducin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.982;0.999;1.0;0.975;0.999	D;D;D;D;D;D	0.97110	1.0;0.915;0.998;1.0;0.93;0.997	T	0.72893	-0.4154	10	0.87932	D	0	-20.293	12.9353	0.58311	1.0:0.0:0.0:0.0	.	151;135;135;135;135;135	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	R	135;135;135;135;135;135;135;135;151;135;135	ENSP00000264436:C135R;ENSP00000384677:C135R;ENSP00000347972:C135R;ENSP00000430243:C135R;ENSP00000388072:C135R;ENSP00000398112:C151R;ENSP00000412357:C135R;ENSP00000412681:C135R	ENSP00000264436:C135R	C	-	1	0	ADD2	70776956	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.184000	0.77705	2.207000	0.71202	0.528000	0.53228	TGC	ADD2	-	superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.582	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	210	0.00	0	A	NM_001617		70923448	70923448	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	missense	179	37.41	107	SNP	1.000	G
ARHGAP15	55843	genome.wustl.edu	37	2	144193247	144193247	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr2:144193247C>G	ENST00000295095.6	+	7	719	c.552C>G	c.(550-552)atC>atG	p.I184M	AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	184	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCACGCTATCAAAAATGCAA	0.308																																						dbGAP											0													136.0	122.0	127.0					2																	144193247		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.552C>G	2.37:g.144193247C>G	ENSP00000295095:p.Ile184Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I184M	ENST00000295095.6	37	c.552	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700115	0.68501	.	.	ENSG00000075884	ENST00000295095	D	0.84223	-1.82	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92528	0.7627	M	0.73598	2.24	0.53005	D	0.999962	D;P	0.76494	0.999;0.854	D;D	0.87578	0.998;0.949	D	0.92672	0.6151	10	0.72032	D	0.01	.	19.7962	0.96484	0.0:1.0:0.0:0.0	.	184;184	B4E0R3;Q53QZ3	.;RHG15_HUMAN	M	184	ENSP00000295095:I184M	ENSP00000295095:I184M	I	+	3	3	ARHGAP15	143909717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.704000	0.68347	2.744000	0.94065	0.650000	0.86243	ATC	ARHGAP15	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000075884		0.308	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	253	0.00	0	C	NM_018460		144193247	144193247	+1	no_errors	ENST00000295095	ensembl	human	known	69_37n	missense	139	41.84	100	SNP	1.000	G
ARHGEF12	23365	genome.wustl.edu	37	11	120351050	120351050	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr11:120351050A>T	ENST00000397843.2	+	38	4314	c.4148A>T	c.(4147-4149)gAt>gTt	p.D1383V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1280V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1364V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1383					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CACTTTTTTGATGCCCGTGAA	0.443			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													136.0	125.0	129.0					11																	120351050		1943	4134	6077	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4148A>T	11.37:g.120351050A>T	ENSP00000380942:p.Asp1383Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D1364V	ENST00000397843.2	37	c.4091	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458954	0.84317	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.80123	-1.23;-1.34;-1.16	5.65	5.65	0.86999	.	0.000000	0.49305	D	0.000147	D	0.84566	0.5500	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.84449	0.0587	10	0.40728	T	0.16	-18.398	15.8891	0.79279	1.0:0.0:0.0:0.0	.	1364;1383	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	V	1383;1364;1280	ENSP00000380942:D1383V;ENSP00000349056:D1364V;ENSP00000432984:D1280V	ENSP00000349056:D1364V	D	+	2	0	ARHGEF12	119856260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.311000	0.72835	2.149000	0.67028	0.533000	0.62120	GAT	ARHGEF12	-	NULL	ENSG00000196914		0.443	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	238	0.00	0	A	NM_015313		120351050	120351050	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	19	83.90	99	SNP	1.000	T
ARSF	416	genome.wustl.edu	37	X	3030432	3030432	+	Silent	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chrX:3030432C>T	ENST00000381127.1	+	11	1829	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	ARSF_ENST00000359361.2_Silent_p.N536N|ARSF_ENST00000537104.1_Silent_p.N536N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	536					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTGGCCAACGCCCTGAAGG	0.567																																						dbGAP											0													105.0	85.0	92.0					X																	3030432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1608C>T	X.37:g.3030432C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.N536	ENST00000381127.1	37	c.1608	CCDS14123.1	X																																																																																			ARSF	-	superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.567	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	196	0.00	0	C			3030432	3030432	+1	no_errors	ENST00000359361	ensembl	human	known	69_37n	silent	102	40.00	68	SNP	0.001	T
ASAH1	427	genome.wustl.edu	37	8	17941525	17941525	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr8:17941525C>A	ENST00000262097.6	-	1	354	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	ASAH1_ENST00000520781.1_Missense_Mutation_p.A15S|ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000314146.10_Intron|CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|ASAH1_ENST00000381733.4_Intron|CTD-2547L16.1_ENST00000505114.2_RNA	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	15					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CAGCTGACGGCGGCAGCCAGG	0.711																																						dbGAP											0													11.0	16.0	14.0					8																	17941525		2121	4186	6307	-	-	-	SO:0001583	missense	0			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.43G>T	8.37:g.17941525C>A	ENSP00000262097:p.Ala15Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.A15S	ENST00000262097.6	37	c.43	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	14.66	2.600688	0.46423	.	.	ENSG00000104763	ENST00000262097;ENST00000520781	T;T	0.73152	-0.64;-0.72	4.57	1.58	0.23477	.	.	.	.	.	T	0.57888	0.2084	L	0.49350	1.555	0.20489	N	0.999891	B;B	0.28636	0.218;0.218	B;B	0.23852	0.049;0.049	T	0.45366	-0.9266	9	0.33940	T	0.23	.	4.3794	0.11286	0.0:0.6021:0.1831:0.2148	.	15;15	E7EMM4;Q13510	.;ASAH1_HUMAN	S	15	ENSP00000262097:A15S;ENSP00000427751:A15S	ENSP00000262097:A15S	A	-	1	0	ASAH1	17985805	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.432000	0.21461	0.337000	0.23665	0.655000	0.94253	GCC	ASAH1	-	pirsf_Acid_ceramidase-like	ENSG00000104763		0.711	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	13	0.00	0	C	NM_004315		17941525	17941525	-1	no_errors	ENST00000262097	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.000	A
ASPH	444	genome.wustl.edu	37	8	62555969	62555969	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr8:62555969C>T	ENST00000379454.4	-	9	920	c.733G>A	c.(733-735)Gat>Aat	p.D245N	ASPH_ENST00000518068.1_Missense_Mutation_p.D202N|ASPH_ENST00000445642.3_Missense_Mutation_p.D231N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000522835.1_Missense_Mutation_p.D188N|ASPH_ENST00000517847.2_Missense_Mutation_p.D231N|ASPH_ENST00000522919.1_Missense_Mutation_p.D58N|ASPH_ENST00000517903.1_Missense_Mutation_p.D231N|ASPH_ENST00000541428.1_Missense_Mutation_p.D216N|ASPH_ENST00000356457.5_Missense_Mutation_p.D245N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	245	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AATCTTTCATCTTCTACTACT	0.338																																						dbGAP											0													82.0	86.0	84.0					8																	62555969		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.733G>A	8.37:g.62555969C>T	ENSP00000368767:p.Asp245Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D245N	ENST00000379454.4	37	c.733	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597421	0.66332	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.31	3.43	0.39272	Aspartyl beta-hydroxylase/Triadin domain (1);	1.210830	0.05832	N	0.617770	T	0.66954	0.2842	L	0.46157	1.445	0.09310	N	1	P;P;P;P;B;P;D;P;D;P	0.67145	0.837;0.863;0.605;0.924;0.127;0.763;0.996;0.728;0.963;0.858	P;P;P;P;B;B;D;B;P;B	0.64687	0.602;0.697;0.491;0.795;0.076;0.387;0.928;0.294;0.843;0.424	T	0.54063	-0.8349	10	0.72032	D	0.01	-0.2963	12.1889	0.54257	0.0:0.6694:0.3306:0.0	.	226;188;231;212;216;226;202;245;231;245	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	N	226;216;245;58;245;260;202;231;231;231;188;154	ENSP00000437864:D216N;ENSP00000368767:D245N;ENSP00000430516:D58N;ENSP00000348841:D245N;ENSP00000427823:D260N;ENSP00000429286:D202N;ENSP00000430245:D231N;ENSP00000394013:D231N;ENSP00000429954:D231N;ENSP00000429160:D188N	ENSP00000348841:D245N	D	-	1	0	ASPH	62718523	0.002000	0.14202	0.001000	0.08648	0.266000	0.26442	1.142000	0.31540	0.666000	0.31087	0.655000	0.94253	GAT	ASPH	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000198363		0.338	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	115	0.00	0	C	NM_004318		62555969	62555969	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	missense	155	22.00	44	SNP	0.002	T
BPIFB6	128859	genome.wustl.edu	37	20	31631125	31631125	+	Silent	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr20:31631125G>A	ENST00000349552.1	+	14	1281	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	427						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCCACTCCCGGACTTTCTGG	0.522																																						dbGAP											0													108.0	110.0	109.0					20																	31631125		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1281G>A	20.37:g.31631125G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.P427	ENST00000349552.1	37	c.1281	CCDS13211.1	20																																																																																			BPIFB6	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000167104		0.522	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	HGNC	protein_coding	OTTHUMT00000078658.2	233	0.00	0	G	NM_174897		31631125	31631125	+1	no_errors	ENST00000349552	ensembl	human	known	69_37n	silent	242	33.15	120	SNP	0.707	A
CADPS	8618	genome.wustl.edu	37	3	62467428	62467428	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr3:62467428G>A	ENST00000383710.4	-	22	3492	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1048	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATCCATGACGGTGCCGAAAA	0.403																																						dbGAP											0													206.0	192.0	197.0					3																	62467428		1906	4129	6035	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3143C>T	3.37:g.62467428G>A	ENSP00000373215:p.Pro1048Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1048L	ENST00000383710.4	37	c.3143	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.316696|3.316696	0.60524|0.60524	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710|ENST00000473635	T|.	0.27557|.	1.66|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Munc13 homology 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73079|0.73079	0.3541|0.3541	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P|.	0.44006|.	0.824|.	B|.	0.34779|.	0.189|.	T|T	0.69083|0.69083	-0.5239|-0.5239	10|5	0.21014|.	T|.	0.42|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1048|.	Q9ULU8|.	CAPS1_HUMAN|.	L|C	1048|35	ENSP00000373215:P1048L|.	ENSP00000373214:P1048L|.	P|R	-|-	2|1	0|0	CADPS|CADPS	62442468|62442468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CCG|CGT	CADPS	-	NULL	ENSG00000163618		0.403	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	348	0.00	0	G	NM_003716, NM_183393, NM_183394		62467428	62467428	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	174	41.86	126	SNP	1.000	A
CSNK1A1L	122011	genome.wustl.edu	37	13	37678978	37678978	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr13:37678978G>T	ENST00000379800.3	-	1	825	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAGTTATCTGGTTTAATGTC	0.408																																						dbGAP											0													202.0	185.0	190.0					13																	37678978		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.416C>A	13.37:g.37678978G>T	ENSP00000369126:p.Pro139Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2N2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P139Q	ENST00000379800.3	37	c.416	CCDS9363.1	13	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996598	0.54147	.	.	ENSG00000180138	ENST00000379800	T	0.33654	1.4	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120008	0.64402	D	0.000019	T	0.74405	0.3712	H	0.99960	5.065	0.48395	D	0.999647	D	0.89917	1.0	D	0.97110	1.0	T	0.76449	-0.2955	10	0.72032	D	0.01	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	139	Q8N752	KC1AL_HUMAN	Q	139	ENSP00000369126:P139Q	ENSP00000369126:P139Q	P	-	2	0	CSNK1A1L	36576978	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	6.673000	0.74482	0.686000	0.31488	0.561000	0.74099	CCA	CSNK1A1L	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000180138		0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	600	0.00	0	G	NM_145203		37678978	37678978	-1	no_errors	ENST00000379800	ensembl	human	known	69_37n	missense	89	68.64	197	SNP	1.000	T
CXCR3	2833	genome.wustl.edu	37	X	70836846	70836846	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chrX:70836846A>T	ENST00000373693.3	-	2	543	c.476T>A	c.(475-477)cTc>cAc	p.L159H	CXCR3_ENST00000373691.4_Missense_Mutation_p.L206H	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	159					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					ccggcggTAGAGCTGGGTGGC	0.637																																						dbGAP											0													22.0	25.0	24.0					X																	70836846		2199	4297	6496	-	-	-	SO:0001583	missense	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.476T>A	X.37:g.70836846A>T	ENSP00000362797:p.Leu159His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.L206H	ENST00000373693.3	37	c.617	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203249	0.38905	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.38077	1.16;1.16	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.200876	0.43416	D	0.000569	T	0.42381	0.1200	N	0.21324	0.655	0.32110	N	0.589476	B;D	0.56035	0.248;0.974	B;P	0.61874	0.089;0.895	T	0.53961	-0.8364	10	0.62326	D	0.03	.	12.1786	0.54199	1.0:0.0:0.0:0.0	.	206;159	P49682-2;P49682	.;CXCR3_HUMAN	H	206;159;159	ENSP00000362795:L206H;ENSP00000362797:L159H	ENSP00000362791:L159H	L	-	2	0	CXCR3	70753571	0.883000	0.30277	1.000000	0.80357	0.250000	0.25880	2.102000	0.41796	2.006000	0.58801	0.481000	0.45027	CTC	CXCR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_Chemokine_CXCR4	ENSG00000186810		0.637	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	38	0.00	0	A			70836846	70836846	-1	no_errors	ENST00000373691	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	1.000	T
DEDD2	162989	genome.wustl.edu	37	19	42703632	42703632	+	Silent	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr19:42703632C>T	ENST00000595337.1	-	5	1026	c.939G>A	c.(937-939)ctG>ctA	p.L313L	DEDD2_ENST00000336034.4_Silent_p.L308L|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Silent_p.L313L	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	313					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCTCCTCCATCAGCAACAGGC	0.667																																						dbGAP											0													16.0	18.0	17.0					19																	42703632		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.939G>A	19.37:g.42703632C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Silent	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.L313	ENST00000595337.1	37	c.939	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.667	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	29	0.00	0	C	NM_133328		42703632	42703632	-1	no_errors	ENST00000336034	ensembl	human	known	69_37n	silent	24	33.33	12	SNP	0.996	T
DIO2	1734	genome.wustl.edu	37	14	80669412	80669412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr14:80669412C>T	ENST00000557125.1	-	2	65	c.66G>A	c.(64-66)tgG>tgA	p.W22*	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.E148K|DIO2_ENST00000557010.1_Missense_Mutation_p.E148K|DIO2_ENST00000555750.1_Missense_Mutation_p.E184K			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGAACTCTTCCACCAGTTTG	0.552											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													53.0	57.0	56.0					14																	80669412		2087	4225	6312	-	-	-	SO:0001587	stop_gained	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557125.1:c.66G>A	14.37:g.80669412C>T	ENSP00000450547:p.Trp22*	Somatic	1200	WXS	Illumina GAIIx	Phase_IV	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Nonsense_Mutation	SNP	NULL	p.W22*	ENST00000557125.1	37	c.66		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.572189|3.572189	0.65765|0.65765	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750|ENST00000557125	T;T;T|.	0.33438|.	1.41;1.41;1.41|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Thioredoxin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|.	0.72317|.	0.3445|.	L|L	0.54863|0.54863	1.705|1.705	0.80722|0.80722	D|D	1|1	P;P;D|.	0.55800|.	0.946;0.956;0.973|.	P;P;P|.	0.50405|.	0.488;0.622;0.64|.	T|.	0.67929|.	-0.5543|.	10|.	0.15952|.	T|.	0.53|.	.|.	19.7712|19.7712	0.96366|0.96366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	184;148;184|.	Q92813-2;Q92813;G3V315|.	.;IOD2_HUMAN;.|.	K|X	148;148;184|22	ENSP00000405854:E148K;ENSP00000451419:E148K;ENSP00000450980:E184K|.	ENSP00000405854:E148K|.	E|W	-|-	1|3	0|0	DIO2|DIO2	79739165|79739165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.906000|2.906000	0.48735|0.48735	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	GAA|TGG	DIO2	-	NULL	ENSG00000211448		0.552	DIO2-010	PUTATIVE	basic	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413753.1	171	0.00	0	C			80669412	80669412	-1	no_errors	ENST00000557125	ensembl	human	putative	69_37n	nonsense	122	40.78	84	SNP	1.000	T
ELF3	1999	genome.wustl.edu	37	1	201980286	201980286	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:201980286A>G	ENST00000359651.3	+	1	3214	c.22A>G	c.(22-24)Agc>Ggc	p.S8G	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S8G|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.S8G|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTGTGAGATTAGCAACATTTT	0.567																																						dbGAP											0													129.0	118.0	122.0					1																	201980286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.22A>G	1.37:g.201980286A>G	ENSP00000352673:p.Ser8Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.S8G	ENST00000359651.3	37	c.22	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993310	0.54041	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.56275	2.05;2.05;2.05;0.47	5.88	5.88	0.94601	.	45.551400	0.00357	N	0.000024	T	0.46288	0.1385	N	0.20986	0.625	0.43426	D	0.995582	B	0.21071	0.051	B	0.21360	0.034	T	0.13953	-1.0490	10	0.44086	T	0.13	.	10.3361	0.43850	0.9265:0.0:0.0735:0.0	.	8	P78545	ELF3_HUMAN	G	8	ENSP00000352673:S8G;ENSP00000356253:S8G;ENSP00000356252:S8G;ENSP00000405162:S8G	ENSP00000311348:S8G	S	+	1	0	ELF3	200246909	0.999000	0.42202	0.972000	0.41901	0.948000	0.59901	4.653000	0.61462	2.246000	0.74042	0.533000	0.62120	AGC	ELF3	-	NULL	ENSG00000163435		0.567	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	186	0.53	1	A	NM_004433		201980286	201980286	+1	no_errors	ENST00000359651	ensembl	human	known	69_37n	missense	111	57.25	150	SNP	0.998	G
FAM98C	147965	genome.wustl.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						dbGAP											0										414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				-	-	-	SO:0001651	inframe_deletion	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW3|Q66K45	In_Frame_Del	DEL	pfam_Uncharacterised_FAM98	p.K347in_frame_del	ENST00000252530.5	37	c.1030_1032	CCDS42562.1	19																																																																																			FAM98C	-	NULL	ENSG00000130244		0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	50	0.00	0	AAG	NM_174905		38899502	38899504	+1	no_errors	ENST00000252530	ensembl	human	known	69_37n	in_frame_del	26	13.33	4	DEL	0.830:0.873:0.987	-
GCH1	2643	genome.wustl.edu	37	14	55369216	55369216	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr14:55369216C>T	ENST00000491895.2	-	1	354	c.166G>A	c.(166-168)Gag>Aag	p.E56K	GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.E56K|GCH1_ENST00000536224.2_Missense_Mutation_p.E56K|GCH1_ENST00000543643.2_Missense_Mutation_p.E56K	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	56					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						CGGGGCCGCTCGCCCTTCCAG	0.751																																					Pancreas(198;1245 2204 4807 21567 38372)	dbGAP											0			GRCh37	CM011339	GCH1	M							18.0	15.0	16.0					14																	55369216		2194	4296	6490	-	-	-	SO:0001583	missense	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.166G>A	14.37:g.55369216C>T	ENSP00000419045:p.Glu56Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I	p.E56K	ENST00000491895.2	37	c.166	CCDS9720.1	14	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705607	0.48412	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99766	-6.69;-6.59;-6.69;-6.5	4.58	0.495	0.16890	.	0.105878	0.64402	D	0.000005	D	0.98654	0.9549	L	0.48642	1.525	0.38340	D	0.944035	P;D;P;B	0.53885	0.942;0.963;0.688;0.01	B;B;B;B	0.40741	0.339;0.248;0.059;0.003	D	0.96386	0.9285	10	0.48119	T	0.1	.	10.5752	0.45223	0.1383:0.4608:0.401:0.0	.	56;56;56;56	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	K	56	ENSP00000378890:E56K;ENSP00000444011:E56K;ENSP00000419045:E56K;ENSP00000445246:E56K	ENSP00000378890:E56K	E	-	1	0	GCH1	54438966	0.997000	0.39634	0.293000	0.24932	0.398000	0.30690	3.562000	0.53777	-0.086000	0.12550	0.561000	0.74099	GAG	GCH1	-	NULL	ENSG00000131979		0.751	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	25	0.00	0	C			55369216	55369216	-1	no_errors	ENST00000395514	ensembl	human	known	69_37n	missense	13	56.67	17	SNP	0.738	T
GHRL	51738	genome.wustl.edu	37	3	10327073	10327073	+	IGR	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr3:10327073G>A	ENST00000335542.8	-	0	1425				LINC00852_ENST00000538717.1_RNA|GHRL_ENST00000476283.1_5'Flank|GHRLOS_ENST00000603771.1_RNA|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000605105.1_RNA|LINC00852_ENST00000475197.1_RNA|RP11-438J1.1_ENST00000450534.1_Intron|GHRLOS_ENST00000439539.3_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide						actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						ATGTTTAAAGGAACTGTGTCT	0.463																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360		3.37:g.10327073G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	RNA	SNP	-	NULL	ENST00000335542.8	37	NULL	CCDS33700.1	3																																																																																			GHRLOS2	-	-	ENSG00000231177		0.463	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRLOS2	HGNC	protein_coding	OTTHUMT00000339625.1	103	0.00	0	G	NM_016362		10327073	10327073	+1	no_errors	ENST00000475197	ensembl	human	known	69_37n	rna	49	27.94	19	SNP	0.000	A
KCTD9	54793	genome.wustl.edu	37	8	25292958	25292958	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr8:25292958A>G	ENST00000221200.4	-	9	954	c.734T>C	c.(733-735)tTa>tCa	p.L245S		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	245					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ACAGCGGCTTAAATTGGCCAT	0.398																																						dbGAP											0													70.0	68.0	69.0					8																	25292958		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.734T>C	8.37:g.25292958A>G	ENSP00000221200:p.Leu245Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUM8|Q9NXV4	Missense_Mutation	SNP	pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Doublecortin_dom,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L245S	ENST00000221200.4	37	c.734	CCDS6048.1	8	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836023	0.91117	.	.	ENSG00000104756	ENST00000221200	T	0.61980	0.06	5.54	5.54	0.83059	.	0.000000	0.56097	U	0.000026	D	0.86041	0.5838	H	0.96889	3.9	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.90828	0.4714	10	0.87932	D	0	.	15.9735	0.80040	1.0:0.0:0.0:0.0	.	245	Q7L273	KCTD9_HUMAN	S	245	ENSP00000221200:L245S	ENSP00000221200:L245S	L	-	2	0	KCTD9	25348875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.234000	0.73211	0.528000	0.53228	TTA	KCTD9	-	pfam_5peptide_repeat	ENSG00000104756		0.398	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD9	HGNC	protein_coding	OTTHUMT00000216890.1	244	0.00	0	A	NM_017634		25292958	25292958	-1	no_errors	ENST00000221200	ensembl	human	known	69_37n	missense	21	67.37	64	SNP	1.000	G
KIFC1	3833	genome.wustl.edu	37	6	33374648	33374648	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr6:33374648C>T	ENST00000428849.2	+	10	2423	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	658	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CGCTTTGCCTCCAAGGTGCGA	0.517																																						dbGAP											0													96.0	87.0	90.0					6																	33374648		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1973C>T	6.37:g.33374648C>T	ENSP00000393963:p.Ser658Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S658F	ENST00000428849.2	37	c.1973	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182024	0.78677	.	.	ENSG00000237649	ENST00000428849	T	0.76186	-1.0	5.09	5.09	0.68999	Kinesin, motor domain (3);	0.109616	0.64402	D	0.000020	D	0.83496	0.5267	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.85468	0.1171	10	0.87932	D	0	-6.0895	11.6841	0.51474	0.0:0.8219:0.1781:0.0	.	650;658	B4E063;Q9BW19	.;KIFC1_HUMAN	F	658	ENSP00000393963:S658F	ENSP00000393963:S658F	S	+	2	0	KIFC1	33482626	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.691000	0.68249	2.656000	0.90262	0.563000	0.77884	TCC	KIFC1	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000237649		0.517	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	209	0.00	0	C	NM_002263		33374648	33374648	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	missense	117	47.06	104	SNP	1.000	T
LRRC8E	80131	genome.wustl.edu	37	19	7964376	7964376	+	Silent	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr19:7964376C>T	ENST00000306708.6	+	3	1070	c.969C>T	c.(967-969)taC>taT	p.Y323Y	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	323					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGTGCATCTACGGACTTACCT	0.582																																						dbGAP											0													101.0	81.0	88.0					19																	7964376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.969C>T	19.37:g.7964376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y323	ENST00000306708.6	37	c.969	CCDS12189.1	19																																																																																			LRRC8E	-	NULL	ENSG00000171017		0.582	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	168	0.00	0	C	NM_025061		7964376	7964376	+1	no_errors	ENST00000306708	ensembl	human	known	69_37n	silent	107	41.53	76	SNP	0.126	T
MTMR4	9110	genome.wustl.edu	37	17	56569882	56569882	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr17:56569882G>A	ENST00000323456.5	-	18	3524	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.H1077Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1134					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCAATGGTGTCTTCGTTTG	0.473																																						dbGAP											0													217.0	213.0	215.0					17																	56569882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3400C>T	17.37:g.56569882G>A	ENSP00000325285:p.His1134Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.H1134Y	ENST00000323456.5	37	c.3400	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784910	0.90282	.	.	ENSG00000108389	ENST00000323456	T	0.78595	-1.19	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	M	0.93241	3.395	0.46521	D	0.999082	D	0.89917	1.0	D	0.87578	0.998	D	0.93335	0.6704	10	0.87932	D	0	.	18.3512	0.90339	0.0:0.0:1.0:0.0	.	1134	Q9NYA4	MTMR4_HUMAN	Y	1134	ENSP00000325285:H1134Y	ENSP00000325285:H1134Y	H	-	1	0	MTMR4	53924881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.461000	0.97646	2.578000	0.87016	0.563000	0.77884	CAC	MTMR4	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000108389		0.473	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	323	0.00	0	G	NM_004687		56569882	56569882	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	missense	190	42.99	144	SNP	1.000	A
NFE2L3	9603	genome.wustl.edu	37	7	26225181	26225182	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr7:26225181_26225182insAA	ENST00000056233.3	+	4	2122_2123	c.1863_1864insAA	c.(1864-1866)agafs	p.R622fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	622	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AAACTCTTAAGAGAGAGCAAGC	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	Exception_encountered	7.37:g.26225181_26225182insAA	ENSP00000056233:p.Arg622fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R621fs	ENST00000056233.3	37	c.1863_1864	CCDS5396.1	7																																																																																			NFE2L3	-	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	ENSG00000050344		0.337	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	73	0.00	0	-			26225181	26225182	+1	no_errors	ENST00000056233	ensembl	human	known	69_37n	frame_shift_ins	63	28.41	25	INS	0.000:0.000	AA
NOM1	64434	genome.wustl.edu	37	7	156742517	156742517	+	Missense_Mutation	SNP	G	G	A	rs529447894	byFrequency	TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr7:156742517G>A	ENST00000275820.3	+	1	101	c.86G>A	c.(85-87)gGg>gAg	p.G29E		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	29	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggcgggcgcgggccgcgccgc	0.726																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.86G>A	7.37:g.156742517G>A	ENSP00000275820:p.Gly29Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.G29E	ENST00000275820.3	37	c.86	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770154	0.49680	.	.	ENSG00000146909	ENST00000275820	T	0.11385	2.78	3.66	2.71	0.32032	.	1.538800	0.04261	N	0.340362	T	0.10551	0.0258	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.37943	0.261	T	0.43294	-0.9400	10	0.72032	D	0.01	-5.6969	12.5633	0.56295	0.0:0.1682:0.8318:0.0	.	29	Q5C9Z4	NOM1_HUMAN	E	29	ENSP00000275820:G29E	ENSP00000275820:G29E	G	+	2	0	NOM1	156435278	0.153000	0.22777	0.007000	0.13788	0.075000	0.17131	2.829000	0.48128	1.588000	0.49971	0.306000	0.20318	GGG	NOM1	-	NULL	ENSG00000146909		0.726	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	11	0.00	0	G	NM_138400		156742517	156742517	+1	no_errors	ENST00000275820	ensembl	human	known	69_37n	missense	6	68.18	15	SNP	0.007	A
OPRD1	4985	genome.wustl.edu	37	1	29189481	29189481	+	Missense_Mutation	SNP	G	G	A	rs370180812		TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:29189481G>A	ENST00000234961.2	+	3	1047	c.805G>A	c.(805-807)Gcc>Acc	p.A269T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	269					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTTGTGGGCGCCTTCGTGGT	0.677																																						dbGAP											0													37.0	32.0	34.0					1																	29189481		2202	4299	6501	-	-	-	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.805G>A	1.37:g.29189481G>A	ENSP00000234961:p.Ala269Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.A269T	ENST00000234961.2	37	c.805	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970258	0.74246	.	.	ENSG00000116329	ENST00000234961	T	0.72394	-0.65	4.06	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.191906	0.45126	D	0.000388	T	0.62502	0.2433	L	0.45137	1.4	0.58432	D	0.999999	P	0.43788	0.817	B	0.40782	0.34	T	0.65639	-0.6119	10	0.87932	D	0	.	11.3254	0.49446	0.0:0.186:0.814:0.0	.	269	P41143	OPRD_HUMAN	T	269	ENSP00000234961:A269T	ENSP00000234961:A269T	A	+	1	0	OPRD1	29062068	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.860000	0.86993	0.895000	0.36342	0.462000	0.41574	GCC	OPRD1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000116329		0.677	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	86	0.00	0	G	NM_000911		29189481	29189481	+1	no_errors	ENST00000234961	ensembl	human	known	69_37n	missense	17	76.67	69	SNP	1.000	A
OR13D1	286365	genome.wustl.edu	37	9	107457129	107457129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr9:107457129G>T	ENST00000318763.5	+	1	470	c.427G>T	c.(427-429)Gag>Tag	p.E143*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGGCTCCACTGAGTGTGTCCT	0.483																																						dbGAP											0													158.0	148.0	152.0					9																	107457129		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.427G>T	9.37:g.107457129G>T	ENSP00000317357:p.Glu143*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIS1|Q6IFL1	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E143*	ENST00000318763.5	37	c.427	CCDS35094.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286243	0.80803	.	.	ENSG00000179055	ENST00000318763	.	.	.	3.75	3.75	0.43078	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8962	0.47023	0.0:0.0:1.0:0.0	.	.	.	.	X	143	.	ENSP00000317357:E143X	E	+	1	0	OR13D1	106496950	0.980000	0.34600	0.365000	0.25901	0.794000	0.44872	3.418000	0.52721	1.917000	0.55516	0.609000	0.83330	GAG	OR13D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000179055		0.483	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	408	0.00	0	G			107457129	107457129	+1	no_errors	ENST00000318763	ensembl	human	known	69_37n	nonsense	214	43.24	163	SNP	0.286	T
OR52I2	143502	genome.wustl.edu	37	11	4609000	4609000	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr11:4609000C>T	ENST00000312614.4	+	1	980	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCTTAAATCCCATCATCTA	0.512																																						dbGAP											0													193.0	184.0	187.0					11																	4609000		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.958C>T	11.37:g.4609000C>T	ENSP00000308764:p.Pro320Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.P320S	ENST00000312614.4	37	c.958	CCDS31355.1	11	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606474	0.46527	.	.	ENSG00000226288	ENST00000312614	D	0.98807	-5.15	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000455	D	0.99299	0.9755	H	0.96239	3.79	0.45822	D	0.998694	D	0.89917	1.0	D	0.97110	1.0	D	0.98821	1.0747	10	0.87932	D	0	-16.6206	10.0239	0.42059	0.0:0.8995:0.0:0.1005	.	320	Q8NH67	O52I2_HUMAN	S	320	ENSP00000308764:P320S	ENSP00000308764:P320S	P	+	1	0	OR52I2	4565576	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	4.590000	0.61013	2.187000	0.69744	0.644000	0.83932	CCC	OR52I2	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000226288		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I2	HGNC	protein_coding	OTTHUMT00000385946.1	391	0.00	0	C	NM_001005170		4609000	4609000	+1	no_errors	ENST00000312614	ensembl	human	known	69_37n	missense	494	24.89	164	SNP	0.999	T
OTUD4	54726	genome.wustl.edu	37	4	146062555	146062555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr4:146062555G>A	ENST00000447906.2	-	19	2246	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.Q622*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	687					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCCCCAGTCTGACACAGTGAA	0.423																																						dbGAP											0													71.0	71.0	71.0					4																	146062555		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2059C>T	4.37:g.146062555G>A	ENSP00000395487:p.Gln687*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Q687*	ENST00000447906.2	37	c.2059		4	.	.	.	.	.	.	.	.	.	.	G	39	7.423978	0.98275	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	5.29	0.74685	.	0.526853	0.19885	N	0.103864	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0	7.7627	0.28961	0.0774:0.0:0.6338:0.2888	.	.	.	.	X	622;687	.	ENSP00000395487:Q687X	Q	-	1	0	OTUD4	146282005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.714000	0.47202	2.941000	0.99782	0.655000	0.94253	CAG	OTUD4	-	NULL	ENSG00000164164		0.423	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	236	0.00	0	G	NM_017493		146062555	146062555	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	nonsense	149	40.64	102	SNP	1.000	A
PCDHB18	54660	genome.wustl.edu	37	5	140615827	140615827	+	RNA	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr5:140615827C>T	ENST00000526308.1	+	0	1890					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCTGCAGAACGGCTCGGCGC	0.711																																						dbGAP											0																																										-	-	-			0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615827C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.711	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	30	0.00	0	C			140615827	140615827	+1	no_errors	ENST00000526308	ensembl	human	known	69_37n	rna	22	36.11	13	SNP	0.992	T
PCGF5	84333	genome.wustl.edu	37	10	93021117	93021117	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr10:93021117G>A	ENST00000336126.5	+	7	741	c.509G>A	c.(508-510)cGt>cAt	p.R170H	PCGF5_ENST00000543648.1_Missense_Mutation_p.R170H	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGTTCTACACGTGTAACTGTG	0.284																																					Colon(178;732 2696 46441 50370)	dbGAP											0													28.0	32.0	31.0					10																	93021117		2193	4268	6461	-	-	-	SO:0001583	missense	0			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.509G>A	10.37:g.93021117G>A	ENSP00000337500:p.Arg170His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R170H	ENST00000336126.5	37	c.509	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076652	0.76415	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.46451	0.87;0.87	5.68	5.68	0.88126	.	0.054556	0.64402	D	0.000001	T	0.59636	0.2208	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	P	0.54965	0.765	T	0.58923	-0.7550	10	0.45353	T	0.12	-13.4176	19.7837	0.96428	0.0:0.0:1.0:0.0	.	170	Q86SE9	PCGF5_HUMAN	H	170	ENSP00000445704:R170H;ENSP00000337500:R170H	ENSP00000337500:R170H	R	+	2	0	PCGF5	93011097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.672000	0.90937	0.561000	0.74099	CGT	PCGF5	-	NULL	ENSG00000180628		0.284	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	17	0.00	0	G	NM_032373		93021117	93021117	+1	no_errors	ENST00000336126	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	A
POU5F2	134187	genome.wustl.edu	37	5	93077199	93077199	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr5:93077199G>A	ENST00000510627.4	-	1	144	c.71C>T	c.(70-72)cCg>cTg	p.P24L	POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	24					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CAGGGGCATCGGCCCTCTGGG	0.697																																						dbGAP											0													15.0	18.0	17.0					5																	93077199		1908	4106	6014	-	-	-	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.71C>T	5.37:g.93077199G>A	ENSP00000464890:p.Pro24Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P24L	ENST00000510627.4	37	c.71	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.697	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	26	0.00	0	G	NM_153216		93077199	93077199	-1	no_errors	ENST00000510627	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.001	A
JADE2	23338	genome.wustl.edu	37	5	133902109	133902109	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr5:133902109G>A	ENST00000402835.1	+	9	1528	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	PHF15_ENST00000361895.2_Missense_Mutation_p.D425N|PHF15_ENST00000282605.4_Missense_Mutation_p.D425N|PHF15_ENST00000395003.1_Missense_Mutation_p.D425N																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCACTGGTCGACTTCATCTA	0.627																																						dbGAP											0													55.0	55.0	55.0					5																	133902109		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000402835.1:c.1273G>A	5.37:g.133902109G>A	ENSP00000384671:p.Asp425Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D441N	ENST00000402835.1	37	c.1321		5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555320	0.86231	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.47528	0.84;0.89;0.89;0.9	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.78456	2.415	0.80722	D	1	P;P;P;P;P;B	0.47409	0.637;0.895;0.679;0.895;0.785;0.071	B;P;B;P;B;B	0.44673	0.219;0.457;0.241;0.457;0.422;0.041	T	0.65520	-0.6148	10	0.72032	D	0.01	.	19.6619	0.95876	0.0:0.0:1.0:0.0	.	425;425;425;425;425;441	B4DFY8;Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.;.	N	425;441;425;425;425;425;425	ENSP00000282605:D425N;ENSP00000354425:D425N;ENSP00000384671:D425N;ENSP00000378451:D425N	ENSP00000282605:D425N	D	+	1	0	PHF15	133930008	1.000000	0.71417	0.995000	0.50966	0.447000	0.32167	7.658000	0.83755	2.657000	0.90304	0.591000	0.81541	GAC	PHF15	-	NULL	ENSG00000043143		0.627	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	35	0.00	0	G			133902109	133902109	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134354682	134354682	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr9:134354682G>A	ENST00000357304.4	+	18	4857	c.4802G>A	c.(4801-4803)cGa>cAa	p.R1601Q	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R907Q|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R907Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1601							poly(A) RNA binding (GO:0044822)	p.R1601L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATTCCTCCTCGATTTGCAAAA	0.537																																						dbGAP											2	Substitution - Missense(2)	lung(2)											77.0	76.0	77.0					9																	134354682		2011	4170	6181	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4802G>A	9.37:g.134354682G>A	ENSP00000349856:p.Arg1601Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R1601Q	ENST00000357304.4	37	c.4802	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926783	0.92319	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.04234	3.67;4.14;3.67	5.13	5.13	0.70059	.	0.000000	0.35936	U	0.002886	T	0.17577	0.0422	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.00308	-1.1829	10	0.51188	T	0.08	-32.1694	17.5655	0.87918	0.0:0.0:1.0:0.0	.	334;1601	Q5JSZ8;Q5JSZ5	.;PRC2B_HUMAN	Q	907;1601;907	ENSP00000384606:R907Q;ENSP00000349856:R1601Q;ENSP00000398853:R907Q	ENSP00000349856:R1601Q	R	+	2	0	PRRC2B	133344503	1.000000	0.71417	0.991000	0.47740	0.714000	0.41099	9.188000	0.94921	2.378000	0.81104	0.455000	0.32223	CGA	PRRC2B	-	NULL	ENSG00000130723		0.537	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		192	0.00	0	G			134354682	134354682	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	184	14.81	32	SNP	1.000	A
RGS12	6002	genome.wustl.edu	37	4	3441258	3441258	+	Silent	SNP	C	C	G	rs199732646		TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr4:3441258C>G	ENST00000344733.5	+	18	5095	c.4191C>G	c.(4189-4191)ccC>ccG	p.P1397P	HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank|RGS12_ENST00000338806.4_Silent_p.P749P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1397					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTCGGCGCCCGGGCGGGATG	0.642																																						dbGAP											0													45.0	46.0	46.0					4																	3441258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4191C>G	4.37:g.3441258C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P1397	ENST00000344733.5	37	c.4191	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.642	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	42	0.00	0	C	NM_002926		3441258	3441258	+1	no_errors	ENST00000344733	ensembl	human	known	69_37n	silent	35	46.15	30	SNP	0.000	G
SCNN1D	6339	genome.wustl.edu	37	1	1222976	1222976	+	Splice_Site	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:1222976G>A	ENST00000338555.2	+	7	2051	c.907G>A	c.(907-909)Gga>Aga	p.G303R	SCNN1D_ENST00000325425.8_Splice_Site_p.G369R|SCNN1D_ENST00000379116.5_Splice_Site_p.G467R|SCNN1D_ENST00000400928.3_Splice_Site_p.G303R			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	303					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CATCACCCACGGTGGGTGCCA	0.682																																						dbGAP											0													29.0	32.0	31.0					1																	1222976		2194	4293	6487	-	-	-	SO:0001630	splice_region_variant	0			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.907+1G>A	1.37:g.1222976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.G467R	ENST00000338555.2	37	c.1399		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.088415|3.088415	0.55968|0.55968	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928|ENST00000379099	T;T;T;T|.	0.72282|.	-0.64;-0.64;-0.64;-0.64|.	4.05|4.05	0.889|0.889	0.19212|0.19212	.|.	0.303968|0.303968	0.27109|0.27109	N|N	0.020892|0.020892	T|T	0.44519|0.44519	0.1297|0.1297	M|M	0.75777|0.75777	2.31|2.31	0.09310|0.09310	N|N	0.99999|0.99999	D;D|.	0.76494|.	0.999;0.978|.	D;B|.	0.68765|.	0.96;0.44|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|6	0.62326|.	D|.	0.03|.	.|.	4.4936|4.4936	0.11826|0.11826	0.2786:0.1633:0.5581:0.0|0.2786:0.1633:0.5581:0.0	.|.	303;467|.	P51172;A6NNF7|.	SCNND_HUMAN;.|.	R|S	334;467;303;369;303|94	ENSP00000368411:G467R;ENSP00000339504:G303R;ENSP00000321594:G369R;ENSP00000383717:G303R|.	ENSP00000321594:G369R|.	G|G	+|+	1|1	0|0	SCNN1D|SCNN1D	1212839|1212839	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	0.118000|0.118000	0.15605|0.15605	-0.036000|-0.036000	0.13669|0.13669	0.313000|0.313000	0.20887|0.20887	GGA|GGT	SCNN1D	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000162572		0.682	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	54	0.00	0	G	NM_002978	Missense_Mutation	1222976	1222976	+1	no_errors	ENST00000379116	ensembl	human	known	69_37n	missense	68	34.62	36	SNP	0.053	A
RNF207	388591	genome.wustl.edu	37	1	6271954	6271954	+	Silent	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:6271954G>A	ENST00000377939.4	+	13	1264	c.1137G>A	c.(1135-1137)gcG>gcA	p.A379A	RNF207_ENST00000377948.2_Missense_Mutation_p.A97T	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	379						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCCCCAAGGCGCTGACGGGGC	0.697																																						dbGAP											0													7.0	7.0	7.0					1																	6271954		1997	3881	5878	-	-	-	SO:0001819	synonymous_variant	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1137G>A	1.37:g.6271954G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	NULL	p.A97T	ENST00000377939.4	37	c.289	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538417	0.45176	.	.	ENSG00000158286	ENST00000377948	.	.	.	4.36	1.21	0.21127	.	0.977754	0.08296	U	0.967721	T	0.34745	0.0908	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34976	-0.9807	6	0.39692	T	0.17	-2.601	5.8304	0.18577	0.3516:0.2243:0.4241:0.0	.	.	.	.	T	97	.	ENSP00000367183:A97T	A	+	1	0	RNF207	6194541	0.632000	0.27172	0.891000	0.34965	0.969000	0.65631	-0.099000	0.11007	0.415000	0.25817	0.462000	0.41574	GCT	RNF207	-	NULL	ENSG00000158286		0.697	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	15	0.00	0	G	NM_207396		6271954	6271954	+1	no_errors	ENST00000377948	ensembl	human	known	69_37n	missense	4	73.33	11	SNP	0.306	A
TBC1D3	729873	genome.wustl.edu	37	17	36340138	36340138	+	Silent	SNP	A	A	G			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr17:36340138A>G	ENST00000354664.4	-	12	1045	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	TBC1D3_ENST00000537432.1_Silent_p.L297L|TBC1D3_ENST00000519532.1_Silent_p.L275L|TBC1D3_ENST00000339023.4_Intron	NM_001123391.2	NP_001116863.2	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3	297						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCGGCATCAACGCCTGTTCG	0.602																																						dbGAP											0													2.0	2.0	2.0					17																	36340138		491	1095	1586	-	-	-	SO:0001819	synonymous_variant	0				CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000354664.4:c.889T>C	17.37:g.36340138A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L297	ENST00000354664.4	37	c.889	CCDS45658.1	17																																																																																			TBC1D3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000197681		0.602	TBC1D3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3	HGNC	protein_coding	OTTHUMT00000378681.1	14	0.00	0	A	NM_001123391		36340138	36340138	-1	no_errors	ENST00000354664	ensembl	human	known	69_37n	silent	2	60.00	3	SNP	0.353	G
SLC4A1	6521	genome.wustl.edu	37	17	42330650	42330650	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr17:42330650G>T	ENST00000262418.6	-	17	2302	c.2147C>A	c.(2146-2148)gCc>gAc	p.A716D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	716	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAAGAGGGCGGCCACCCCACC	0.637																																						dbGAP											0													75.0	68.0	70.0					17																	42330650		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2147C>A	17.37:g.42330650G>T	ENSP00000262418:p.Ala716Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.A716D	ENST00000262418.6	37	c.2147	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329865	0.60743	.	.	ENSG00000004939	ENST00000262418	T	0.80653	-1.4	4.61	0.864	0.19068	Bicarbonate transporter, C-terminal (1);	0.368313	0.29444	N	0.012123	T	0.80221	0.4583	M	0.72894	2.215	0.09310	N	1	P	0.41102	0.738	P	0.44597	0.454	T	0.73855	-0.3851	10	0.87932	D	0	.	11.2004	0.48739	0.081:0.5242:0.3948:0.0	.	716	P02730	B3AT_HUMAN	D	716	ENSP00000262418:A716D	ENSP00000262418:A716D	A	-	2	0	SLC4A1	39686176	0.000000	0.05858	0.063000	0.19743	0.958000	0.62258	-0.060000	0.11712	0.486000	0.27676	0.555000	0.69702	GCC	SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.637	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	75	0.00	0	G	NM_000342		42330650	42330650	-1	no_errors	ENST00000262418	ensembl	human	known	69_37n	missense	47	58.26	67	SNP	0.014	T
TEX35	84066	genome.wustl.edu	37	1	178490396	178490396	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:178490396C>T	ENST00000319416.2	+	8	695	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	TEX35_ENST00000367643.3_Missense_Mutation_p.R195W|TEX35_ENST00000258298.2_Missense_Mutation_p.R119W|TEX35_ENST00000367639.1_Missense_Mutation_p.R203W|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_3'UTR	NM_032126.4	NP_115502.2			testis expressed 35									p.R195W(1)									CAACTACAATCGGGGTAGGTA	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											235.0	226.0	229.0					1																	178490396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.583C>T	1.37:g.178490396C>T	ENSP00000323795:p.Arg195Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R195W	ENST00000319416.2	37	c.583	CCDS1323.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.99|11.99	1.803142|1.803142	0.31869|0.31869	.|.	.|.	ENSG00000240021|ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367639|ENST00000442872	T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99|.	5.06|5.06	3.02|3.02	0.34903|0.34903	.|.	1.008400|.	0.07983|.	N|.	0.985895|.	T|T	0.26048|0.26048	0.0635|0.0635	N|N	0.14661|0.14661	0.345|0.345	0.21915|0.21915	N|N	0.999478|0.999478	D;D|.	0.76494|.	0.998;0.999|.	P;D|.	0.66196|.	0.903;0.942|.	T|T	0.20874|0.20874	-1.0262|-1.0262	10|6	0.87932|0.87932	D|D	0|0	-0.0322|-0.0322	8.6472|8.6472	0.34013|0.34013	0.1699:0.6652:0.165:0.0|0.1699:0.6652:0.165:0.0	.|.	203;195|.	Q5T0J7-2;Q5T0J7|.	.;CA049_HUMAN|.	W|L	195;119;195;203|29	ENSP00000323795:R195W;ENSP00000258298:R119W;ENSP00000356615:R195W;ENSP00000356611:R203W|.	ENSP00000258298:R119W|ENSP00000413991:S29L	R|S	+|+	1|2	2|0	C1orf49|C1orf49	176757019|176757019	0.855000|0.855000	0.29742|0.29742	0.996000|0.996000	0.52242|0.52242	0.903000|0.903000	0.53119|0.53119	0.306000|0.306000	0.19279|0.19279	1.225000|1.225000	0.43566|0.43566	0.536000|0.536000	0.68110|0.68110	CGG|TCG	TEX35	-	NULL	ENSG00000240021		0.498	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	421	0.00	0	C	NM_032126		178490396	178490396	+1	no_errors	ENST00000319416	ensembl	human	known	69_37n	missense	474	29.10	195	SNP	0.962	T
TRIM58	25893	genome.wustl.edu	37	1	248039412	248039412	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr1:248039412G>A	ENST00000366481.3	+	6	1130	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGGTTTAGGGGTCTGTCAA	0.557																																						dbGAP											0													112.0	105.0	107.0					1																	248039412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1082G>A	1.37:g.248039412G>A	ENSP00000355437:p.Gly361Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G361E	ENST00000366481.3	37	c.1082	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841162	0.51057	.	.	ENSG00000162722	ENST00000366481	D	0.99201	-5.55	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000020	D	0.99569	0.9845	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97483	1.0048	10	0.87932	D	0	.	14.5446	0.68020	0.0:0.0:1.0:0.0	.	361	Q8NG06	TRI58_HUMAN	E	361	ENSP00000355437:G361E	ENSP00000355437:G361E	G	+	2	0	TRIM58	246106035	1.000000	0.71417	0.068000	0.19968	0.042000	0.13812	7.075000	0.76798	2.559000	0.86315	0.650000	0.86243	GGG	TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.557	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	300	0.00	0	G	NM_015431		248039412	248039412	+1	no_errors	ENST00000366481	ensembl	human	known	69_37n	missense	40	76.88	133	SNP	0.982	A
USP36	57602	genome.wustl.edu	37	17	76798464	76798464	+	Silent	SNP	G	G	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr17:76798464G>T	ENST00000542802.3	-	17	3407	c.2964C>A	c.(2962-2964)gtC>gtA	p.V988V	USP36_ENST00000312010.6_Silent_p.V988V|USP36_ENST00000449938.2_Silent_p.V593V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	986					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGACTCGGGGACAACAGCAT	0.582																																						dbGAP											0													85.0	62.0	70.0					17																	76798464		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2964C>A	17.37:g.76798464G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V988	ENST00000542802.3	37	c.2964	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.582	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	103	0.00	0	G	NM_025090		76798464	76798464	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	silent	73	39.67	48	SNP	0.115	T
WDR4	10785	genome.wustl.edu	37	21	44279796	44279796	+	Silent	SNP	G	G	A	rs538066488		TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr21:44279796G>A	ENST00000398208.2	-	6	662	c.603C>T	c.(601-603)ccC>ccT	p.P201P	WDR4_ENST00000330317.2_Silent_p.P201P|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GAAGCAGCCCGGGCTGAGTTG	0.662																																						dbGAP											0													56.0	43.0	48.0					21																	44279796		2188	4262	6450	-	-	-	SO:0001819	synonymous_variant	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.603C>T	21.37:g.44279796G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P201	ENST00000398208.2	37	c.603	CCDS13691.1	21																																																																																			WDR4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000160193		0.662	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	73	0.00	0	G			44279796	44279796	-1	no_errors	ENST00000330317	ensembl	human	known	69_37n	silent	57	35.23	31	SNP	0.036	A
WNT7A	7476	genome.wustl.edu	37	3	13860569	13860569	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr3:13860569A>T	ENST00000285018.4	-	4	1226	c.922T>A	c.(922-924)Tgc>Agc	p.C308S		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	308					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCCCACAGCACATGAGGTCA	0.642																																						dbGAP											0													62.0	55.0	57.0					3																	13860569		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.922T>A	3.37:g.13860569A>T	ENSP00000285018:p.Cys308Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H90|Q9Y560	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.C308S	ENST00000285018.4	37	c.922	CCDS2616.1	3	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369802	0.82573	.	.	ENSG00000154764	ENST00000285018	D	0.91577	-2.87	4.18	4.18	0.49190	.	0.046012	0.85682	D	0.000000	D	0.96762	0.8943	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97828	1.0261	10	0.87932	D	0	.	13.567	0.61824	1.0:0.0:0.0:0.0	.	308	O00755	WNT7A_HUMAN	S	308	ENSP00000285018:C308S	ENSP00000285018:C308S	C	-	1	0	WNT7A	13835570	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.294000	0.96088	1.669000	0.50854	0.460000	0.39030	TGC	WNT7A	-	pfam_Wnt,smart_Wnt	ENSG00000154764		0.642	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	101	0.00	0	A	NM_004625		13860569	13860569	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	1.000	T
ZIC3	7547	genome.wustl.edu	37	X	136649808	136649808	+	Silent	SNP	C	C	A			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chrX:136649808C>A	ENST00000287538.5	+	1	1508	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZIC3_ENST00000370606.3_Silent_p.R320R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	320	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CAACCACATCCGAGTGCACAC	0.607																																						dbGAP											0													78.0	85.0	82.0					X																	136649808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.958C>A	X.37:g.136649808C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R320	ENST00000287538.5	37	c.958	CCDS14663.1	X																																																																																			ZIC3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000156925		0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	54	0.00	0	C			136649808	136649808	+1	no_errors	ENST00000287538	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	1.000	A
ZNF699	374879	genome.wustl.edu	37	19	9407034	9407034	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15R-01A-11D-A10Y-09	TCGA-E2-A15R-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	11799240-0275-48fe-84ef-85e188839bbe	463d72c3-0e93-4d3e-b1c8-39827372fa08	g.chr19:9407034delT	ENST00000591998.1	-	6	1274	c.1046delA	c.(1045-1047)cacfs	p.H349fs	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Frame_Shift_Del_p.H349fs			Q32M78	ZN699_HUMAN	zinc finger protein 699	349					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)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TATTATAAGGTGAGAGGAAGA	0.423																																						dbGAP											0													50.0	53.0	52.0					19																	9407034		2177	4291	6468	-	-	-	SO:0001589	frameshift_variant	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1046delA	19.37:g.9407034delT	ENSP00000467723:p.His349fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9A1	Frame_Shift_Del	DEL	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.H349fs	ENST00000591998.1	37	c.1046	CCDS42495.1	19																																																																																			ZNF699	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196110		0.423	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	140	0.00	0	T	NM_198535		9407034	9407034	-1	no_errors	ENST00000308650	ensembl	human	known	69_37n	frame_shift_del	53	35.23	31	DEL	0.003	-
