#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCC5	10057	genome.wustl.edu	37	3	183689641	183689641	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:183689641C>T	ENST00000334444.6	-	11	1711	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E491K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	491					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTTTTCATCTCTATCTTGATG	0.463																																																	0													104.0	100.0	101.0					3																	183689641		1941	4144	6085	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1471G>A	3.37:g.183689641C>T	ENSP00000333926:p.Glu491Lys		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E491K	ENST00000334444.6	37	c.1471	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891603	0.72524	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91945	-2.73;-2.94	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	L	0.44542	1.39	0.58432	D	0.999998	P;B	0.37824	0.609;0.024	B;B	0.33690	0.168;0.05	D	0.85603	0.1253	10	0.06236	T	0.91	-23.0356	19.1879	0.93651	0.0:1.0:0.0:0.0	.	491;491	Q86UX3;O15440	.;MRP5_HUMAN	K	491;427;491	ENSP00000333926:E491K;ENSP00000265586:E491K	ENSP00000265586:E491K	E	-	1	0	ABCC5	185172335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.471000	0.73562	2.525000	0.85131	0.655000	0.94253	GAG	ABCC5	-	NULL		0.463	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	C	NM_005688		183689641	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAD1	132612	genome.wustl.edu	37	4	123332499	123332499	+	Missense_Mutation	SNP	T	T	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:123332499T>A	ENST00000296513.2	+	9	1156	c.971T>A	c.(970-972)cTt>cAt	p.L324H	ADAD1_ENST00000388725.2_Missense_Mutation_p.L306H|ADAD1_ENST00000388724.2_Missense_Mutation_p.L313H	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	324	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACATTTGCCTTTACATGAAC	0.353																																																	0													96.0	93.0	94.0					4																	123332499		2203	4300	6503	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.971T>A	4.37:g.123332499T>A	ENSP00000296513:p.Leu324His		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L324H	ENST00000296513.2	37	c.971	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	T	18.71	3.681774	0.68042	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.96774	-4.12;-4.12;-4.12	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99577	1.0972	10	0.87932	D	0	-6.1238	16.0304	0.80574	0.0:0.0:0.0:1.0	.	313;324	Q96M93-2;Q96M93	.;ADAD1_HUMAN	H	324;313;306	ENSP00000296513:L324H;ENSP00000373376:L313H;ENSP00000373377:L306H	ENSP00000296513:L324H	L	+	2	0	ADAD1	123551949	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	6.886000	0.75611	2.193000	0.70182	0.482000	0.46254	CTT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.353	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	T	NM_139243		123332499	+1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM28	10863	genome.wustl.edu	37	8	24181361	24181361	+	Silent	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr8:24181361C>T	ENST00000265769.4	+	9	845	c.735C>T	c.(733-735)ctC>ctT	p.L245L	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Silent_p.L12L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Silent_p.L245L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAAAAGCTCAATACTCATG	0.294																																					NSCLC(193;488 2149 22258 34798 40734)												0													66.0	67.0	67.0					8																	24181361		2203	4299	6502	SO:0001819	synonymous_variant	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.735C>T	8.37:g.24181361C>T			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L245	ENST00000265769.4	37	c.735	CCDS34865.1	8																																																																																			ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.294	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	C	NM_021778		24181361	+1	no_errors	ENST00000265769	ensembl	human	known	70_37	silent	SNP	0.925	T
ADAM29	11086	genome.wustl.edu	37	4	175898988	175898988	+	Missense_Mutation	SNP	G	G	A	rs202055137	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:175898988G>A	ENST00000359240.3	+	5	2982	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.R771Q|ADAM29_ENST00000404450.4_Missense_Mutation_p.R771Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.R771Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	771	9 X 9 AA approximate repeats.			QPRVM -> HPQLT (in Ref. 1; AAF03777). {ECO:0000305}.	spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTCAACCTCGGGTGATGCCT	0.577													G|||	340	0.0678914	0.034	0.0663	5008	,	,		20151	0.0615		0.0964	False		,,,				2504	0.092				Ovarian(140;1727 1835 21805 25838 41440)												0																																										SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2312G>A	4.37:g.175898988G>A	ENSP00000352177:p.Arg771Gln		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R771Q	ENST00000359240.3	37	c.2312	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708063	0.30322	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	0.945	-0.164	0.13359	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	P	0.48834	0.916	B	0.22152	0.038	T	0.53279	-0.8461	8	.	.	.	.	6.4136	0.21704	0.0:0.3102:0.6898:0.0	.	771	Q9UKF5	ADA29_HUMAN	Q	771	ENSP00000352177:R771Q;ENSP00000414544:R771Q;ENSP00000384229:R771Q;ENSP00000423517:R771Q	.	R	+	2	0	ADAM29	176135563	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.587000	0.00902	-0.079000	0.12707	0.453000	0.30009	CGG	ADAM29	-	NULL		0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		G			175898988	+1	no_errors	ENST00000359240	ensembl	human	known	70_37	missense	SNP	0.000	A
ADAMTS6	11174	genome.wustl.edu	37	5	64766877	64766877	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:64766877C>T	ENST00000536360.1	-	3	1003	c.190G>A	c.(190-192)Gat>Aat	p.D64N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	64						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GAGTGTTTATCATTTTTCACA	0.378																																																	0													99.0	99.0	99.0					5																	64766877		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.190G>A	5.37:g.64766877C>T	ENSP00000440995:p.Asp64Asn		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D64N	ENST00000536360.1	37	c.190		5	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902780	0.33628	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.58797	0.34;0.46;0.31	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.182306	0.64402	D	0.000017	T	0.35248	0.0925	N	0.08118	0	0.36633	D	0.87639	B	0.15141	0.012	B	0.25759	0.063	T	0.36768	-0.9734	10	0.12430	T	0.62	.	11.1506	0.48455	0.0:0.7994:0.1299:0.0707	.	64	Q9UKP5	ATS6_HUMAN	N	64	ENSP00000370443:D64N;ENSP00000423551:D64N;ENSP00000440995:D64N	ENSP00000261306:D64N	D	-	1	0	ADAMTS6	64802633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.710000	0.47169	2.779000	0.95612	0.491000	0.48974	GAT	ADAMTS6	-	pfam_Peptidase_M12B_N		0.378	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		C	NM_197941		64766877	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY5	111	genome.wustl.edu	37	3	123044256	123044256	+	Silent	SNP	G	G	A	rs373154919		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:123044256G>A	ENST00000462833.1	-	8	3213	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ADCY5_ENST00000309879.5_Silent_p.I317I|ADCY5_ENST00000491190.1_Silent_p.I300I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	667					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGTTGTGCCCGATGGAGTTGG	0.582																																																	0								G	,	0,4406		0,0,2203	168.0	171.0	170.0		951,2001	-5.7	0.8	3		170	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	317/912,667/1262	123044256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2001C>T	3.37:g.123044256G>A			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I667	ENST00000462833.1	37	c.2001	CCDS3022.1	3																																																																																			ADCY5	-	NULL		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123044256	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	silent	SNP	0.457	A
ANKRD37	353322	genome.wustl.edu	37	4	186320755	186320755	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:186320755G>A	ENST00000335174.4	+	4	744	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		AACAGCTGAAGATCTCGCTTG	0.353																																																	0													80.0	78.0	79.0					4																	186320755		2203	4300	6503	SO:0001583	missense	353322			AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.304G>A	4.37:g.186320755G>A	ENSP00000335147:p.Asp102Asn			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D102N	ENST00000335174.4	37	c.304	CCDS3841.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885488	0.91814	.	.	ENSG00000186352	ENST00000335174	T	0.35421	1.31	6.0	6.0	0.97389	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.28522	-1.0041	10	0.30854	T	0.27	-16.9097	20.1699	0.98157	0.0:0.0:1.0:0.0	.	102;102	B4E066;Q7Z713	.;ANR37_HUMAN	N	102	ENSP00000335147:D102N	ENSP00000335147:D102N	D	+	1	0	ANKRD37	186557749	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.037000	0.76531	2.868000	0.98415	0.555000	0.69702	GAT	ANKRD37	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.353	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD37	HGNC	protein_coding	OTTHUMT00000360673.1	G	NM_181726		186320755	+1	no_errors	ENST00000335174	ensembl	human	known	70_37	missense	SNP	1.000	A
BAAT	570	genome.wustl.edu	37	9	104130403	104130404	+	Splice_Site	DEL	TT	TT	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:104130403_104130404delTT	ENST00000395051.3	-	2	737_738	c.667_668delAA	c.(667-669)aag>g	p.K223fs	BAAT_ENST00000259407.2_Splice_Site_p.K223fs			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	223					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.V224fs*35(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AAAAATTACCTTTGGATGTCTC	0.436																																																	1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001630	splice_region_variant	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.669+1AA>-	9.37:g.104130403_104130404delTT			Q3B7W9|Q96L31	Frame_Shift_Del	DEL	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.K223fs	ENST00000395051.3	37	c.668_667	CCDS6752.1	9																																																																																			BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.436	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	TT		Frame_Shift_Del	104130404	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.930	-
BRWD3	254065	genome.wustl.edu	37	X	79932387	79932387	+	Silent	SNP	C	C	G	rs146425236	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:79932387C>G	ENST00000373275.4	-	41	5346	c.5130G>C	c.(5128-5130)ggG>ggC	p.G1710G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1710	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ttcctcctctccctcttcccc	0.542																																																	0													144.0	110.0	122.0					X																	79932387		2203	4300	6503	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5130G>C	X.37:g.79932387C>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.G1710	ENST00000373275.4	37	c.5130	CCDS14447.1	X																																																																																			BRWD3	-	NULL		0.542	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		79932387	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	0.988	G
C12orf43	64897	genome.wustl.edu	37	12	121444193	121444193	+	Missense_Mutation	SNP	T	T	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:121444193T>A	ENST00000288757.3	-	4	314	c.292A>T	c.(292-294)Att>Ttt	p.I98F	C12orf43_ENST00000445832.3_Missense_Mutation_p.I68F|C12orf43_ENST00000539736.1_Missense_Mutation_p.I98F|C12orf43_ENST00000536407.2_Missense_Mutation_p.I98F|C12orf43_ENST00000366211.2_Missense_Mutation_p.I56F|C12orf43_ENST00000537817.1_Missense_Mutation_p.I99F	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	98										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGATGGTAATGAAGCTACAG	0.408																																																	0													159.0	135.0	143.0					12																	121444193		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.292A>T	12.37:g.121444193T>A	ENSP00000288757:p.Ile98Phe		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.I98F	ENST00000288757.3	37	c.292	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.057439|4.057439	0.76074|0.76074	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000536407|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.61274	.|0.17;0.15;0.17;0.12;0.36	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.047788	.|0.85682	.|D	.|0.000000	T|T	0.76449|0.76449	0.3989|0.3989	M|M	0.80847|0.80847	2.515|2.515	0.48571|0.48571	D|D	0.999677|0.999677	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.996;1.0;0.996	.|D;D;D;D;P	.|0.91635	.|0.999;0.999;0.931;0.999;0.907	T|T	0.79957|0.79957	-0.1584|-0.1584	5|10	.|0.87932	.|D	.|0	-1.1781|-1.1781	13.7513|13.7513	0.62910|0.62910	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|98;56;99;98;98	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	L|F	102|68;98;99;56;98;35;52	.|ENSP00000409788:I68F;ENSP00000288757:I98F;ENSP00000442224:I99F;ENSP00000437803:I98F;ENSP00000442041:I35F	.|ENSP00000288757:I98F	H|I	-|-	2|1	0|0	C12orf43|C12orf43	119928576|119928576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.610000|0.610000	0.37248|0.37248	4.664000|4.664000	0.61540|0.61540	2.326000|2.326000	0.78906|0.78906	0.529000|0.529000	0.55759|0.55759	CAT|ATT	C12orf43	-	NULL		0.408	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		T	NM_022895		121444193	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	1.000	A
C2orf54	79919	genome.wustl.edu	37	2	241831156	241831156	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:241831156C>G	ENST00000388934.4	-	2	697	c.539G>C	c.(538-540)aGg>aCg	p.R180T	C2orf54_ENST00000402775.2_Missense_Mutation_p.R12T|C2orf54_ENST00000307486.8_Missense_Mutation_p.R31T	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	180										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCTCCTCCCTCAGGCTGGC	0.652																																																	0													46.0	54.0	52.0					2																	241831156		2172	4259	6431	SO:0001583	missense	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.539G>C	2.37:g.241831156C>G	ENSP00000373586:p.Arg180Thr		B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	NULL	p.R180T	ENST00000388934.4	37	c.539	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069660	0.36470	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.11495	2.77;2.77;2.77	4.24	-3.11	0.05299	.	1.319440	0.05057	N	0.479264	T	0.13500	0.0327	L	0.60455	1.87	0.09310	N	1	B;B;B	0.25441	0.126;0.126;0.103	B;B;B	0.26094	0.042;0.066;0.025	T	0.45991	-0.9223	10	0.87932	D	0	-4.0295	10.2761	0.43510	0.0:0.1845:0.0:0.8155	.	180;31;12	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	T	12;31;180	ENSP00000385338:R12T;ENSP00000302779:R31T;ENSP00000373586:R180T	ENSP00000302779:R31T	R	-	2	0	C2orf54	241479829	0.000000	0.05858	0.004000	0.12327	0.968000	0.65278	-0.924000	0.03996	-0.548000	0.06199	0.591000	0.81541	AGG	C2orf54	-	NULL		0.652	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	HGNC	protein_coding	OTTHUMT00000324353.1	C	NM_024861, NM_001085437		241831156	-1	no_errors	ENST00000388934	ensembl	human	known	70_37	missense	SNP	0.023	G
C7orf57	136288	genome.wustl.edu	37	7	48092508	48092508	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr7:48092508G>A	ENST00000348904.3	+	7	1029	c.817G>A	c.(817-819)Gag>Aag	p.E273K	C7orf57_ENST00000435376.1_Missense_Mutation_p.E135K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E318K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E273K|C7orf57_ENST00000420324.1_Missense_Mutation_p.E302K	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	273										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGAAGGTCCTGAGGACACCCC	0.547																																																	0													29.0	33.0	32.0					7																	48092508		2007	4180	6187	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.817G>A	7.37:g.48092508G>A	ENSP00000335500:p.Glu273Lys		C9JBJ8	Missense_Mutation	SNP	NULL	p.E273K	ENST00000348904.3	37	c.817	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133977	0.37630	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.50277	0.75;0.77;0.84;0.8	5.35	2.4	0.29515	.	0.766051	0.11781	N	0.530158	T	0.42539	0.1207	M	0.63428	1.95	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.15484	0.013;0.012	T	0.41963	-0.9479	10	0.66056	D	0.02	-6.3697	5.448	0.16546	0.1978:0.1819:0.6203:0.0	.	135;273	C9JBJ8;Q8NEG2	.;CG057_HUMAN	K	302;135;318;273;273	ENSP00000394648:E302K;ENSP00000410944:E318K;ENSP00000335500:E273K;ENSP00000442474:E273K	ENSP00000335500:E273K	E	+	1	0	C7orf57	48059033	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.773000	0.26661	0.168000	0.19655	0.561000	0.74099	GAG	C7orf57	-	NULL		0.547	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	G	NM_001100159		48092508	+1	no_errors	ENST00000348904	ensembl	human	known	70_37	missense	SNP	0.010	A
C9orf163	158055	genome.wustl.edu	37	9	139379423	139379423	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:139379423G>A	ENST00000354376.1	+	1	1477	c.523G>A	c.(523-525)Gcg>Acg	p.A175T		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	175										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TTTGCCGCTCGCGAGTTCAAA	0.622											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43.0	45.0	44.0					9																	139379423		2202	4299	6501	SO:0001583	missense	158055			AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.523G>A	9.37:g.139379423G>A	ENSP00000346345:p.Ala175Thr	1648		Missense_Mutation	SNP	NULL	p.A175T	ENST00000354376.1	37	c.523	CCDS7001.1	9	.	.	.	.	.	.	.	.	.	.	G	2.414	-0.334746	0.05278	.	.	ENSG00000196366	ENST00000354376	T	0.54479	0.57	1.45	-2.89	0.05665	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	9	0.87932	D	0	.	4.6225	0.12461	0.1933:0.0:0.568:0.2386	.	175	Q8N9P6	CI163_HUMAN	T	175	ENSP00000346345:A175T	ENSP00000346345:A175T	A	+	1	0	C9orf163	138499244	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.392000	0.02523	-2.151000	0.00795	-1.756000	0.00673	GCG	C9orf163	-	NULL		0.622	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf163	HGNC	protein_coding	OTTHUMT00000254644.1	G	NM_152571		139379423	+1	no_errors	ENST00000354376	ensembl	human	known	70_37	missense	SNP	0.000	A
CCBE1	147372	genome.wustl.edu	37	18	57106986	57106986	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr18:57106986C>T	ENST00000439986.4	-	8	875	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	280	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCCCGTGGGCCGGGCTGCCCA	0.587																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0													44.0	50.0	48.0					18																	57106986		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.838G>A	18.37:g.57106986C>T	ENSP00000404464:p.Gly280Ser		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	pfam_Collagen,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.G280S	ENST00000439986.4	37	c.838	CCDS32838.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.204056	0.95033	.	.	ENSG00000183287	ENST00000439986	D	0.99329	-5.75	4.22	4.22	0.49857	.	0.100113	0.64402	D	0.000002	D	0.99600	0.9855	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97606	1.0126	10	0.87932	D	0	-10.6729	15.7832	0.78281	0.0:1.0:0.0:0.0	.	280;89	Q6UXH8;Q6UXH8-3	CCBE1_HUMAN;.	S	280	ENSP00000404464:G280S	ENSP00000404464:G280S	G	-	1	0	CCBE1	55257966	1.000000	0.71417	0.981000	0.43875	0.967000	0.64934	7.090000	0.76916	2.049000	0.60858	0.650000	0.86243	GGC	CCBE1	-	pfam_Collagen		0.587	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBE1	HGNC	protein_coding	OTTHUMT00000449685.2	C	NM_133459		57106986	-1	no_errors	ENST00000439986	ensembl	human	known	70_37	missense	SNP	0.999	T
CDC5L	988	genome.wustl.edu	37	6	44361207	44361207	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:44361207delT	ENST00000371477.3	+	4	635	c.336delT	c.(334-336)aatfs	p.N112fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	112					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAAGAGACAATGAAGAGGAAA	0.398																																																	0													76.0	73.0	74.0					6																	44361207		2203	4300	6503	SO:0001589	frameshift_variant	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.336delT	6.37:g.44361207delT	ENSP00000360532:p.Asn112fs		Q76N46|Q99974	Frame_Shift_Del	DEL	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N112fs	ENST00000371477.3	37	c.336	CCDS4912.1	6																																																																																			CDC5L	-	superfamily_Homeodomain-like		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	T			44361207	+1	no_errors	ENST00000371477	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
COL6A3	1293	genome.wustl.edu	37	2	238249105	238249105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:238249105delG	ENST00000295550.4	-	38	8906	c.8454delC	c.(8452-8454)tccfs	p.S2818fs	COL6A3_ENST00000346358.4_Frame_Shift_Del_p.S2618fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.S2211fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.S2612fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.S2617fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.S2612fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2818	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGACGAAGGATGGCAACA	0.552																																																	0													65.0	59.0	61.0					2																	238249105		2203	4300	6503	SO:0001589	frameshift_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8454delC	2.37:g.238249105delG	ENSP00000295550:p.Ser2818fs		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.F2819fs	ENST00000295550.4	37	c.8454	CCDS33412.1	2																																																																																			COL6A3	-	NULL		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238249105	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	frame_shift_del	DEL	0.898	-
COL6A6	131873	genome.wustl.edu	37	3	130360553	130360553	+	Missense_Mutation	SNP	C	C	T	rs376592854		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:130360553C>T	ENST00000358511.6	+	28	5180	c.5149C>T	c.(5149-5151)Cgt>Tgt	p.R1717C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1717C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1717	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCTCCTGGACGTAAGGTAAG	0.383																																																	0								C	CYS/ARG	0,3596		0,0,1798	28.0	29.0	29.0		5149	4.9	1.0	3		29	1,8133		0,1,4066	no	missense	COL6A6	NM_001102608.1	180	0,1,5864	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	1717/2264	130360553	1,11729	1798	4067	5865	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5149C>T	3.37:g.130360553C>T	ENSP00000351310:p.Arg1717Cys		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1717C	ENST00000358511.6	37	c.5149	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395804	0.83011	0.0	1.23E-4	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93366	-3.21;-3.21	5.77	4.89	0.63831	.	.	.	.	.	D	0.94634	0.8270	M	0.78285	2.405	0.40519	D	0.980812	D	0.76494	0.999	P	0.50490	0.642	D	0.95024	0.8163	9	0.56958	D	0.05	.	15.4329	0.75116	0.1397:0.8603:0.0:0.0	.	1717	A6NMZ7	CO6A6_HUMAN	C	1717	ENSP00000351310:R1717C;ENSP00000399236:R1717C	ENSP00000351310:R1717C	R	+	1	0	COL6A6	131843243	0.926000	0.31397	0.998000	0.56505	0.932000	0.56968	2.578000	0.46051	1.551000	0.49450	0.655000	0.94253	CGT	COL6A6	-	NULL		0.383	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	C	NM_001102608		130360553	+1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	0.996	T
CYBB	1536	genome.wustl.edu	37	X	37663318	37663318	+	Silent	SNP	A	A	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:37663318A>T	ENST00000378588.4	+	9	1153	c.1086A>T	c.(1084-1086)acA>acT	p.T362T	CYBB_ENST00000545017.1_Silent_p.T330T|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Silent_p.T95T	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	362	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGGACTGGACAGAGGGGCTGT	0.478																																																	0													78.0	74.0	75.0					X																	37663318		2202	4300	6502	SO:0001819	synonymous_variant	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1086A>T	X.37:g.37663318A>T			A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.T362	ENST00000378588.4	37	c.1086	CCDS14242.1	X																																																																																			CYBB	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.478	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	A			37663318	+1	no_errors	ENST00000378588	ensembl	human	known	70_37	silent	SNP	0.824	T
DMRT3	58524	genome.wustl.edu	37	9	990870	990870	+	Silent	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:990870C>T	ENST00000190165.2	+	2	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552																																																	0													82.0	71.0	75.0					9																	990870		2203	4300	6503	SO:0001819	synonymous_variant	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1284C>T	9.37:g.990870C>T			Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R428	ENST00000190165.2	37	c.1284	CCDS6443.1	9																																																																																			DMRT3	-	NULL		0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	C	NM_021240		990870	+1	no_errors	ENST00000190165	ensembl	human	known	70_37	silent	SNP	0.004	T
BRINP1	1620	genome.wustl.edu	37	9	122011249	122011249	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:122011249G>A	ENST00000265922.3	-	3	859	c.398C>T	c.(397-399)gCc>gTc	p.A133V	BRINP1_ENST00000373964.2_Missense_Mutation_p.A133V	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	133	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCCCAATGTGGCTGAGATGAG	0.532																																																	0													100.0	69.0	79.0					9																	122011249		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.398C>T	9.37:g.122011249G>A	ENSP00000265922:p.Ala133Val		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.A133V	ENST00000265922.3	37	c.398	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926710	0.73327	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.82619	-1.63;-1.63	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.046986	0.85682	D	0.000000	D	0.89104	0.6620	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.62955	0.909;0.892	D	0.89277	0.3609	10	0.87932	D	0	-19.0854	20.1076	0.97898	0.0:0.0:1.0:0.0	.	133;133	O60477-2;O60477	.;DBC1_HUMAN	V	133	ENSP00000265922:A133V;ENSP00000363075:A133V	ENSP00000265922:A133V	A	-	2	0	DBC1	121051070	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.823000	0.86660	2.823000	0.97156	0.650000	0.86243	GCC	DBC1	-	pfam_MACPF,smart_MACPF		0.532	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		122011249	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13762907	13762907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:13762907delT	ENST00000265104.4	-	60	10309	c.10205delA	c.(10204-10206)aatfs	p.N3402fs	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3402	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAGCTACATTTCCACATAC	0.418									Kartagener syndrome																																								0													100.0	96.0	97.0					5																	13762907		2203	4300	6503	SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10205delA	5.37:g.13762907delT	ENSP00000265104:p.Asn3402fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3402fs	ENST00000265104.4	37	c.10205	CCDS3882.1	5																																																																																			DNAH5	-	NULL		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	T	NM_001369		13762907	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
EPG5	57724	genome.wustl.edu	37	18	43532369	43532369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr18:43532369G>A	ENST00000282041.5	-	3	1283	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	417					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TACATACCTCGGCCTTGCTGG	0.388																																																	0													109.0	100.0	103.0					18																	43532369		1887	4122	6009	SO:0001587	stop_gained	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1249C>T	18.37:g.43532369G>A	ENSP00000282041:p.Arg417*		A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	NULL	p.R417*	ENST00000282041.5	37	c.1249	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430929	0.83776	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.59	3.74	0.42951	.	1.567430	0.03116	N	0.163155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	5.9926	0.19476	0.0725:0.1363:0.6498:0.1415	.	.	.	.	X	417	.	ENSP00000282041:R417X	R	-	1	2	EPG5	41786367	0.079000	0.21365	0.589000	0.28718	0.034000	0.12701	1.646000	0.37249	0.783000	0.33636	0.563000	0.77884	CGA	EPG5	-	NULL		0.388	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43532369	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	nonsense	SNP	0.293	A
ERCC8	1161	genome.wustl.edu	37	5	60186820	60186820	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:60186820C>T	ENST00000265038.5	-	10	979	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	ERCC8_ENST00000543101.1_Missense_Mutation_p.G160S|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.G255S	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	313					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATGGTGCTACCATATGGTACA	0.353																																																	0													103.0	103.0	103.0					5																	60186820		2203	4300	6503	SO:0001583	missense	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.937G>A	5.37:g.60186820C>T	ENSP00000265038:p.Gly313Ser		B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G313S	ENST00000265038.5	37	c.937	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051340	0.36181	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.80824	-1.42;-1.42;-1.42	5.69	5.69	0.88448	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.276549	0.41294	D	0.000908	T	0.75997	0.3926	M	0.62723	1.935	0.48975	D	0.999733	B;B	0.33288	0.406;0.259	B;B	0.28553	0.06;0.091	T	0.74615	-0.3606	10	0.38643	T	0.18	-16.7145	12.6451	0.56729	0.0:0.8822:0.0:0.1178	.	160;313	B4DGZ9;Q13216	.;ERCC8_HUMAN	S	255;313;160;312	ENSP00000400110:G255S;ENSP00000265038:G313S;ENSP00000441732:G160S	ENSP00000265038:G313S	G	-	1	0	ERCC8	60222577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.461000	0.60115	2.691000	0.91804	0.563000	0.77884	GGT	ERCC8	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.353	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	C	NM_000082		60186820	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	missense	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	urinary_tract(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.D62V	ENST00000278882.3	37	c.185		20	.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT	FRG1B	-	pfam_FRG1,superfamily_Actin_cross-linking		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	A	NR_003579		29625941	+1	no_errors	ENST00000278882	ensembl	human	known	70_37	missense	SNP	1.000	T
GAS2L2	246176	genome.wustl.edu	37	17	34073404	34073404	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:34073404G>C	ENST00000254466.6	-	6	1139	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S355C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	371					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCCTCCAAGATGGGATGAG	0.597																																																	0													55.0	63.0	61.0					17																	34073404		2203	4299	6502	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1112C>G	17.37:g.34073404G>C	ENSP00000254466:p.Ser371Cys		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S371C	ENST00000254466.6	37	c.1112	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930545	0.73327	.	.	ENSG00000132139	ENST00000254466	T	0.21031	2.03	4.6	1.48	0.22813	.	1.866310	0.02531	N	0.093612	T	0.25494	0.0620	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.31280	-0.9949	10	0.66056	D	0.02	-0.253	7.591	0.28021	0.0877:0.3158:0.5965:0.0	.	371	Q8NHY3	GA2L2_HUMAN	C	371	ENSP00000254466:S371C	ENSP00000254466:S371C	S	-	2	0	GAS2L2	31097517	0.334000	0.24739	0.000000	0.03702	0.610000	0.37248	2.291000	0.43540	0.189000	0.20188	0.561000	0.74099	TCT	GAS2L2	-	NULL		0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34073404	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	0.000	C
GBP6	163351	genome.wustl.edu	37	1	89846126	89846126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:89846126delT	ENST00000370456.4	+	6	900	c.807delT	c.(805-807)tgtfs	p.C269fs	GBP6_ENST00000535065.1_Frame_Shift_Del_p.C139fs	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	269	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATTTTCTGTTCTTACATCT	0.443																																																	0													74.0	69.0	71.0					1																	89846126		2203	4300	6503	SO:0001589	frameshift_variant	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.807delT	1.37:g.89846126delT	ENSP00000359485:p.Cys269fs		A2RRM3|Q6ZN86|Q7Z3F0	Frame_Shift_Del	DEL	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.S270fs	ENST00000370456.4	37	c.807	CCDS723.1	1																																																																																			GBP6	-	pfam_Guanylate-bd_N		0.443	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	T	NM_198460		89846126	+1	no_errors	ENST00000370456	ensembl	human	known	70_37	frame_shift_del	DEL	0.964	-
HELZ2	85441	genome.wustl.edu	37	20	62192594	62192594	+	Silent	SNP	G	G	A	rs561435122		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:62192594G>A	ENST00000467148.1	-	14	7056	c.6987C>T	c.(6985-6987)ttC>ttT	p.F2329F	HELZ2_ENST00000427522.2_Silent_p.F1760F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2329	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGTCCAGCTCGAACTTCCGAG	0.632																																																	0													90.0	92.0	91.0					20																	62192594		2202	4300	6502	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6987C>T	20.37:g.62192594G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.F2329	ENST00000467148.1	37	c.6987	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62192594	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.079	A
HIVEP1	3096	genome.wustl.edu	37	6	12121870	12121870	+	Silent	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:12121870C>T	ENST00000379388.2	+	4	2174	c.1842C>T	c.(1840-1842)tcC>tcT	p.S614S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	614					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGGAGTCTCCAGGTTGGAGA	0.502																																																	0													69.0	68.0	69.0					6																	12121870		1952	4165	6117	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1842C>T	6.37:g.12121870C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S614	ENST00000379388.2	37	c.1842	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.502	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	C	NM_002114		12121870	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	silent	SNP	0.042	T
HSPA13	6782	genome.wustl.edu	37	21	15746528	15746528	+	Missense_Mutation	SNP	C	C	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr21:15746528C>A	ENST00000285667.3	-	5	893	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	HSPA13_ENST00000544452.1_Missense_Mutation_p.G68C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	276						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGCACGAAGCCATATGTTTGA	0.368																																																	0													79.0	77.0	77.0					21																	15746528		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.826G>T	21.37:g.15746528C>A	ENSP00000285667:p.Gly276Cys		B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G276C	ENST00000285667.3	37	c.826	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582824	0.46006	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.12147	2.71;2.71	5.66	3.83	0.44106	.	0.239940	0.49916	D	0.000127	T	0.46852	0.1414	H	0.95043	3.615	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61797	-0.6989	10	0.66056	D	0.02	-7.4169	12.1347	0.53964	0.0:0.8609:0.0:0.1391	.	276	P48723	HSP13_HUMAN	C	276;68	ENSP00000285667:G276C;ENSP00000441986:G68C	ENSP00000285667:G276C	G	-	1	0	HSPA13	14668399	1.000000	0.71417	0.900000	0.35374	0.083000	0.17756	6.038000	0.70964	1.525000	0.49052	0.585000	0.79938	GGC	HSPA13	-	pfam_Hsp_70_fam		0.368	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15746528	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	0.998	A
IMPG2	50939	genome.wustl.edu	37	3	100962778	100962778	+	Silent	SNP	T	T	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:100962778T>A	ENST00000193391.7	-	13	2584	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	799					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTGGTGTACTTGCCAATATGT	0.433																																																	0													91.0	92.0	92.0					3																	100962778		2203	4300	6503	SO:0001819	synonymous_variant	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2397A>T	3.37:g.100962778T>A			A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.A799	ENST00000193391.7	37	c.2397	CCDS2940.1	3																																																																																			IMPG2	-	NULL		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	T			100962778	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	silent	SNP	0.940	A
HSPBAP1	79663	genome.wustl.edu	37	3	122459641	122459641	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:122459641C>G	ENST00000306103.2	-	8	1161	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	340						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCTACTACCTCAGATGTTCTG	0.443																																																	0													152.0	144.0	147.0					3																	122459641		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1018G>C	3.37:g.122459641C>G	ENSP00000302562:p.Glu340Gln		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.E340Q	ENST00000306103.2	37	c.1018	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101771	0.20632	.	.	ENSG00000169087	ENST00000306103	T	0.30981	1.51	5.38	-1.15	0.09709	.	1.461020	0.03465	N	0.212772	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16394	-1.0404	10	0.22109	T	0.4	.	5.188	0.15195	0.0:0.4413:0.1836:0.3751	.	340	Q96EW2	HBAP1_HUMAN	Q	340	ENSP00000302562:E340Q	ENSP00000302562:E340Q	E	-	1	0	HSPBAP1	123942331	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.137000	0.15995	-0.068000	0.12953	-0.238000	0.12139	GAG	HSPBAP1	-	NULL		0.443	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459641	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.000	G
IQCG	84223	genome.wustl.edu	37	3	197639609	197639609	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:197639609C>T	ENST00000265239.6	-	9	1324	c.900G>A	c.(898-900)atG>atA	p.M300I	IQCG_ENST00000455191.1_Missense_Mutation_p.M300I	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	300						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTCGGTTTTCATCCTGAGTT	0.483																																																	0													168.0	177.0	174.0					3																	197639609		2203	4300	6503	SO:0001583	missense	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.900G>A	3.37:g.197639609C>T	ENSP00000265239:p.Met300Ile		Q9BST2|Q9HAG8	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.M300I	ENST00000265239.6	37	c.900	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118342	0.20877	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.42131	0.98;0.98	5.61	3.68	0.42216	.	0.867211	0.10250	N	0.697335	T	0.26195	0.0639	N	0.22421	0.69	0.54753	D	0.999983	B	0.18863	0.031	B	0.20767	0.031	T	0.38265	-0.9669	10	0.36615	T	0.2	-5.2814	3.4696	0.07562	0.1623:0.5023:0.2451:0.0903	.	300	Q9H095	IQCG_HUMAN	I	300	ENSP00000265239:M300I;ENSP00000407736:M300I	ENSP00000265239:M300I	M	-	3	0	IQCG	199124006	0.780000	0.28664	0.981000	0.43875	0.818000	0.46254	1.027000	0.30115	2.665000	0.90641	0.638000	0.83543	ATG	IQCG	-	NULL		0.483	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197639609	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	missense	SNP	0.659	T
IRS4	8471	genome.wustl.edu	37	X	107979294	107979294	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:107979294C>T	ENST00000372129.2	-	1	357	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACGAAGTAGCGCCTGTGCCC	0.632																																																	0													70.0	57.0	61.0					X																	107979294		2198	4296	6494	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.281G>A	X.37:g.107979294C>T	ENSP00000361202:p.Arg94His			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.R94H	ENST00000372129.2	37	c.281	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293780	0.80914	.	.	ENSG00000133124	ENST00000372129	T	0.77750	-1.12	3.8	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.072926	0.56097	D	0.000039	D	0.89083	0.6614	M	0.89785	3.06	0.47949	D	0.999551	D	0.89917	1.0	D	0.65987	0.94	D	0.91983	0.5596	10	0.87932	D	0	-8.7687	15.5517	0.76158	0.0:1.0:0.0:0.0	.	94	O14654	IRS4_HUMAN	H	94	ENSP00000361202:R94H	ENSP00000361202:R94H	R	-	2	0	IRS4	107865950	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.326000	0.79133	1.913000	0.55393	0.529000	0.55759	CGC	IRS4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	C	NM_003604		107979294	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	missense	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4732969	4732970	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:4732969_4732970insT	ENST00000443694.2	+	29	3925_3926	c.3925_3926insT	c.(3925-3927)acafs	p.T1309fs	ITPR1_ENST00000354582.6_Frame_Shift_Ins_p.T1324fs|ITPR1_ENST00000302640.8_Frame_Shift_Ins_p.T1309fs|ITPR1_ENST00000357086.4_Frame_Shift_Ins_p.T1315fs|ITPR1_ENST00000456211.2_Frame_Shift_Ins_p.T1300fs|ITPR1_ENST00000423119.2_Frame_Shift_Ins_p.T1315fs|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1324					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTTCTTACAGACAATTGTCAAG	0.406																																																	0																																										SO:0001589	frameshift_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		Exception_encountered	3.37:g.4732969_4732970insT	ENSP00000401671:p.Thr1309fs		E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Ins	INS	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1309fs	ENST00000443694.2	37	c.3925_3926	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel		0.406	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	NM_002222		4732970	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
IZUMO4	113177	genome.wustl.edu	37	19	2097444	2097444	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr19:2097444G>C	ENST00000395301.3	+	3	384	c.320G>C	c.(319-321)cGa>cCa	p.R107P	IZUMO4_ENST00000395307.2_Missense_Mutation_p.R107P|IZUMO4_ENST00000395296.1_Missense_Mutation_p.R107P|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	107						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AACGAGCTGCGAAACATCTTC	0.627											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67.0	62.0	64.0					19																	2097444		2203	4300	6503	SO:0001583	missense	113177			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.320G>C	19.37:g.2097444G>C	ENSP00000378712:p.Arg107Pro	9	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	NULL	p.R154P	ENST00000395301.3	37	c.461	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250918	0.39797	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	3.56	2.52	0.30459	.	0.258733	0.20627	N	0.088665	T	0.24236	0.0587	L	0.27053	0.805	0.32371	N	0.555888	D;D	0.59767	0.986;0.986	P;P	0.52758	0.708;0.708	T	0.26467	-1.0102	10	0.87932	D	0	-17.6471	6.978	0.24688	0.1261:0.0:0.8739:0.0	.	107;107	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	P	154;107;107;107	ENSP00000378718:R154P;ENSP00000300960:R107P;ENSP00000378709:R107P;ENSP00000378712:R107P	ENSP00000300960:R107P	R	+	2	0	IZUMO4	2048444	0.904000	0.30761	0.750000	0.31169	0.285000	0.27093	3.120000	0.50430	1.088000	0.41272	0.561000	0.74099	CGA	IZUMO4	-	NULL		0.627	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	G	NM_052878		2097444	+1	no_errors	ENST00000395307	ensembl	human	known	70_37	missense	SNP	0.739	C
IZUMO4	113177	genome.wustl.edu	37	19	2097458	2097458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr19:2097458G>T	ENST00000395301.3	+	3	398	c.334G>T	c.(334-336)Gag>Tag	p.E112*	IZUMO4_ENST00000395307.2_Nonsense_Mutation_p.E112*|IZUMO4_ENST00000395296.1_Nonsense_Mutation_p.E112*|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	112						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						CATCTTCCGGGAGCAGGTGCA	0.627											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69.0	63.0	65.0					19																	2097458		2203	4300	6503	SO:0001587	stop_gained	113177			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.334G>T	19.37:g.2097458G>T	ENSP00000378712:p.Glu112*	9	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Nonsense_Mutation	SNP	NULL	p.E159*	ENST00000395301.3	37	c.475	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814570	0.90790	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	.	.	.	3.56	2.51	0.30379	.	0.000000	0.38605	N	0.001634	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4439	7.0021	0.24815	0.1263:0.0:0.8737:0.0	.	.	.	.	X	159;112;112;112	.	ENSP00000300960:E112X	E	+	1	0	IZUMO4	2048458	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.395000	0.59678	1.086000	0.41228	0.561000	0.74099	GAG	IZUMO4	-	NULL		0.627	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	G	NM_052878		2097458	+1	no_errors	ENST00000395307	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIF20B	9585	genome.wustl.edu	37	10	91469150	91469150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr10:91469150C>T	ENST00000371728.3	+	4	348	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q95*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q95*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.Q95*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	95	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAGAGCCTCAATGCATCCT	0.368																																																	0													113.0	112.0	112.0					10																	91469150		2203	4300	6503	SO:0001587	stop_gained	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.283C>T	10.37:g.91469150C>T	ENSP00000360793:p.Gln95*		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q95*	ENST00000371728.3	37	c.283		10	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872283	0.33069	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	.	.	.	5.26	4.3	0.51218	.	0.000000	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-15.3905	15.0347	0.71734	0.2161:0.7839:0.0:0.0	.	.	.	.	X	95	.	ENSP00000260753:Q95X	Q	+	1	0	KIF20B	91459130	0.486000	0.25980	0.994000	0.49952	0.065000	0.16274	1.482000	0.35486	2.604000	0.88044	0.655000	0.94253	CAA	KIF20B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91469150	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	nonsense	SNP	0.852	T
KRT17P1	147228	genome.wustl.edu	37	17	16746889	16746889	+	RNA	SNP	C	C	G	rs1673791	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:16746889C>G	ENST00000580363.1	-	0	620									keratin 17 pseudogene 1											lung(4)	4						TGCGCCTGCTCTGCTCTCTCC	0.627													t|||	2561	0.511382	0.413	0.4553	5008	,	,		13177	0.8333		0.4264	False		,,,				2504	0.4397																0																																												147228					17p11.2	2013-06-25			ENSG00000131885	ENSG00000131885			6428	pseudogene	pseudogene						1281771	Standard	NG_002775		Approved				OTTHUMG00000059175		17.37:g.16746889C>G				RNA	SNP	-	NULL	ENST00000580363.1	37	NULL		17																																																																																			KRT17P1	-	-		0.627	KRT17P1-003	KNOWN	basic	processed_transcript	KRT17P1	HGNC	pseudogene	OTTHUMT00000444292.1	C			16746889	-1	no_errors	ENST00000577449	ensembl	human	putative	70_37	rna	SNP	0.003	G
LRPPRC	10128	genome.wustl.edu	37	2	44161369	44161372	+	Frame_Shift_Del	DEL	AGGA	AGGA	-	rs61730682	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	AGGA	AGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:44161369_44161372delAGGA	ENST00000260665.7	-	25	2750_2753	c.2693_2696delTCCT	c.(2692-2697)ttcctafs	p.FL898fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	898					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCTGTTTGTAGGAAGGCAAAGAA	0.348																																																	0																																										SO:0001589	frameshift_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2693_2696delTCCT	2.37:g.44161369_44161372delAGGA	ENSP00000260665:p.Phe898fs		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.F898fs	ENST00000260665.7	37	c.2696_2693	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	AGGA	NM_133259		44161372	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-
MED12	9968	genome.wustl.edu	37	X	70342153	70342153	+	Missense_Mutation	SNP	C	C	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:70342153C>A	ENST00000374080.3	+	8	1237	c.1205C>A	c.(1204-1206)tCc>tAc	p.S402Y	MED12_ENST00000333646.6_Missense_Mutation_p.S402Y|MED12_ENST00000374102.1_Missense_Mutation_p.S402Y			Q93074	MED12_HUMAN	mediator complex subunit 12	402					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATTGCCCCGTCCAACCTGCCC	0.517			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													145.0	129.0	135.0					X																	70342153		2048	4171	6219	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1205C>A	X.37:g.70342153C>A	ENSP00000363193:p.Ser402Tyr		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.S402Y	ENST00000374080.3	37	c.1205	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	19.70	3.876202	0.72180	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.25	5.25	0.73442	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.73194	0.3556	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.76494	0.971;0.999;0.999;0.976	P;D;D;D	0.91635	0.901;0.981;0.999;0.94	T	0.78306	-0.2255	10	0.87932	D	0	-13.6866	18.0011	0.89198	0.0:1.0:0.0:0.0	.	402;249;402;402	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	402;402;402;402;370	ENSP00000333125:S402Y;ENSP00000363215:S402Y;ENSP00000363193:S402Y;ENSP00000414203:S370Y	ENSP00000333125:S402Y	S	+	2	0	MED12	70258878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.419000	0.66435	2.441000	0.82636	0.591000	0.81541	TCC	MED12	-	pfam_Mediator_Med12_LCEWAV		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70342153	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEC2	51438	genome.wustl.edu	37	X	141290713	141290713	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:141290713G>A	ENST00000247452.3	-	3	1408	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	354	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACAGTGGCATCATCTGC	0.478										HNSCC(46;0.14)																																							0													164.0	137.0	146.0					X																	141290713		2203	4300	6503	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1061C>T	X.37:g.141290713G>A	ENSP00000354660:p.Ala354Val		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A354V	ENST00000247452.3	37	c.1061	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	8.558	0.877061	0.17395	.	.	ENSG00000046774	ENST00000247452	T	0.02395	4.31	1.04	1.04	0.20106	.	.	.	.	.	T	0.03434	0.0099	L	0.55481	1.735	0.09310	N	1	B	0.28880	0.226	B	0.29524	0.103	T	0.39099	-0.9630	9	0.41790	T	0.15	.	5.056	0.14533	0.0:0.0:1.0:0.0	.	354	Q9UBF1	MAGC2_HUMAN	V	354	ENSP00000354660:A354V	ENSP00000354660:A354V	A	-	2	0	MAGEC2	141118379	0.003000	0.15002	0.002000	0.10522	0.045000	0.14185	1.792000	0.38754	0.790000	0.33803	0.284000	0.19432	GCC	MAGEC2	-	NULL		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141290713	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	missense	SNP	0.002	A
MS4A6A	64231	genome.wustl.edu	37	11	59949162	59949162	+	Silent	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr11:59949162C>T	ENST00000530839.1	-	3	531	c.39G>A	c.(37-39)gtG>gtA	p.V13V	MS4A6A_ENST00000529054.1_Silent_p.V41V|MS4A6A_ENST00000426738.2_Silent_p.V13V|MS4A6A_ENST00000420732.2_Silent_p.V13V|MS4A6A_ENST00000412309.2_Silent_p.V41V|MS4A6A_ENST00000323961.3_Silent_p.V13V|MS4A6A_ENST00000528851.1_Silent_p.V13V|MS4A6A_ENST00000533023.1_Silent_p.V13V|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000532169.1_Silent_p.V13V	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	13						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATGGGAGCACTATGATGG	0.438																																																	0													227.0	202.0	210.0					11																	59949162		2201	4295	6496	SO:0001819	synonymous_variant	64231			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.39G>A	11.37:g.59949162C>T			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V13	ENST00000530839.1	37	c.39	CCDS7981.1	11																																																																																			MS4A6A	-	superfamily_MFS_dom_general_subst_transpt		0.438	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	C			59949162	-1	no_errors	ENST00000323961	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC17	140453	genome.wustl.edu	37	7	100685735	100685735	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr7:100685735G>A	ENST00000306151.4	+	3	11102	c.11038G>A	c.(11038-11040)Gaa>Aaa	p.E3680K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3680	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGACTCCTGAAGGTACCAC	0.522																																																	0													203.0	189.0	194.0					7																	100685735		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11038G>A	7.37:g.100685735G>A	ENSP00000302716:p.Glu3680Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E3680K	ENST00000306151.4	37	c.11038	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	10.31	1.314294	0.23908	.	.	ENSG00000169876	ENST00000306151	T	0.03094	4.05	1.71	0.754	0.18410	.	.	.	.	.	T	0.04407	0.0121	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	P	0.60415	0.874	T	0.25363	-1.0134	9	0.06625	T	0.88	.	5.7681	0.18237	0.207:0.0:0.793:0.0	.	3680	Q685J3	MUC17_HUMAN	K	3680	ENSP00000302716:E3680K	ENSP00000302716:E3680K	E	+	1	0	MUC17	100472455	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.170000	0.09897	0.932000	0.37266	0.186000	0.17326	GAA	MUC17	-	NULL		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100685735	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.002	A
NINL	22981	genome.wustl.edu	37	20	25491352	25491352	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:25491352C>T	ENST00000278886.6	-	5	548	c.475G>A	c.(475-477)Gag>Aag	p.E159K	NINL_ENST00000422516.1_Missense_Mutation_p.E159K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	159					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTAGTGCTCTCGGCCTCTTCA	0.512																																																	0													147.0	129.0	135.0					20																	25491352		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.475G>A	20.37:g.25491352C>T	ENSP00000278886:p.Glu159Lys		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E159K	ENST00000278886.6	37	c.475	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027516	0.19512	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34472	1.63;1.36	5.25	3.34	0.38264	.	0.607055	0.16848	N	0.197078	T	0.23688	0.0573	L	0.45051	1.395	0.09310	N	1	B;P	0.42456	0.054;0.78	B;B	0.27500	0.017;0.08	T	0.06356	-1.0831	10	0.33940	T	0.23	-11.0719	10.7761	0.46350	0.0:0.844:0.0:0.156	.	159;159	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	159	ENSP00000278886:E159K;ENSP00000410431:E159K	ENSP00000278886:E159K	E	-	1	0	NINL	25439352	0.967000	0.33354	0.003000	0.11579	0.021000	0.10359	2.321000	0.43805	0.807000	0.34208	0.655000	0.94253	GAG	NINL	-	NULL		0.512	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25491352	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	0.082	T
OR2M5	127059	genome.wustl.edu	37	1	248309230	248309230	+	Missense_Mutation	SNP	C	C	T	rs540211211	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:248309230C>T	ENST00000366476.1	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGTACATACGGCCCACATC	0.517													c|||	2	0.000399361	0.0	0.0	5008	,	,		18141	0.0		0.0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	lung(1)											202.0	183.0	189.0					1																	248309230		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.781C>T	1.37:g.248309230C>T	ENSP00000355432:p.Arg261Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R261W	ENST00000366476.1	37	c.781	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	9.354	1.066334	0.20067	.	.	ENSG00000162727	ENST00000366476	T	0.37915	1.17	3.28	-0.8	0.10897	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.34250	0.0891	M	0.80847	2.515	0.09310	N	1	B	0.16603	0.018	B	0.22601	0.04	T	0.42068	-0.9473	10	0.41790	T	0.15	.	1.6407	0.02752	0.4252:0.3024:0.1236:0.1488	.	261	A3KFT3	OR2M5_HUMAN	W	261	ENSP00000355432:R261W	ENSP00000355432:R261W	R	+	1	2	OR2M5	246375853	0.000000	0.05858	0.011000	0.14972	0.028000	0.11728	-0.616000	0.05591	-0.423000	0.07394	0.492000	0.49549	CGG	OR2M5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	C	NM_001004690		248309230	+1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.006	T
OR4D10	390197	genome.wustl.edu	37	11	59245562	59245562	+	Silent	SNP	C	C	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr11:59245562C>A	ENST00000530162.1	+	1	717	c.660C>A	c.(658-660)gtC>gtA	p.V220V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTACATAGTCATATTATCAT	0.488																																																	0													81.0	79.0	80.0					11																	59245562		2201	4295	6496	SO:0001819	synonymous_variant	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.660C>A	11.37:g.59245562C>A			B2RNH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V220	ENST00000530162.1	37	c.660	CCDS53636.1	11																																																																																			OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	C	NM_001004705		59245562	+1	no_errors	ENST00000530162	ensembl	human	known	70_37	silent	SNP	0.986	A
PAK7	57144	genome.wustl.edu	37	20	9546627	9546627	+	Silent	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:9546627G>A	ENST00000378429.3	-	6	1941	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	PAK7_ENST00000353224.5_Silent_p.I465I|PAK7_ENST00000378423.1_Silent_p.I465I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTCGGTGGCGATGCATACGA	0.527																																																	0													264.0	241.0	249.0					20																	9546627		2203	4300	6503	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1395C>T	20.37:g.9546627G>A			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I465	ENST00000378429.3	37	c.1395	CCDS13107.1	20																																																																																			PAK7	-	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		0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	G			9546627	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	silent	SNP	0.994	A
PABPC1L	80336	genome.wustl.edu	37	20	43564065	43564065	+	Missense_Mutation	SNP	G	G	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:43564065G>T	ENST00000217073.2	+	11	1478	c.1478G>T	c.(1477-1479)gGg>gTg	p.G493V	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372819.1_Missense_Mutation_p.G47V|PABPC1L_ENST00000217075.2_Missense_Mutation_p.G47V|PABPC1L_ENST00000372824.1_Missense_Mutation_p.G47V|PABPC1L_ENST00000255136.3_Missense_Mutation_p.G493V			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	493					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGACCCAGTGGGGTAGGATGC	0.498																																																	0													52.0	51.0	51.0					20																	43564065		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1478G>T	20.37:g.43564065G>T	ENSP00000217073:p.Gly493Val		Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G493V	ENST00000217073.2	37	c.1478	CCDS42878.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.619146|1.619146	0.28801|0.28801	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372826	T;T;T;T;T|T	0.41758|0.46063	0.99;0.99;0.99;0.99;0.99|0.88	4.73|4.73	1.63|1.63	0.23807|0.23807	Polyadenylate-binding protein/Hyperplastic disc protein (1);|.	0.761815|0.761815	0.12892|0.12892	N|N	0.430532|0.430532	T|T	0.21387|0.21387	0.0515|0.0515	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.001;0.046|.	B;B|.	0.22152|.	0.001;0.038|.	T|T	0.17745|0.17745	-1.0359|-1.0359	10|8	0.32370|0.38643	T|T	0.25|0.18	.|.	5.5136|5.5136	0.16894|0.16894	0.0948:0.0:0.5343:0.3709|0.0948:0.0:0.5343:0.3709	.|.	493;47|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	V|W	493;47;47;493;47;47;47|29	ENSP00000255136:G493V;ENSP00000217073:G493V;ENSP00000361911:G47V;ENSP00000361906:G47V;ENSP00000217075:G47V|ENSP00000361913:G29W	ENSP00000217073:G493V|ENSP00000361913:G29W	G|G	+|+	2|1	0|0	PABPC1L|PABPC1L	42997479|42997479	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.425000|0.425000	0.31504|0.31504	0.086000|0.086000	0.14935|0.14935	0.278000|0.278000	0.22164|0.22164	0.655000|0.655000	0.94253|0.94253	GGG|GGG	PABPC1L	-	superfamily_PABP_HYD,tigrfam_PABP_1234		0.498	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43564065	+1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDHA1	56147	genome.wustl.edu	37	5	140167432	140167432	+	Silent	SNP	A	A	G	rs370912994		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167432A>G	ENST00000504120.2	+	1	1557	c.1557A>G	c.(1555-1557)gcA>gcG	p.A519A	PCDHA1_ENST00000394633.3_Silent_p.A519A|PCDHA1_ENST00000378133.3_Silent_p.A519A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTACGCACTGCAGCCCC	0.682																																																	0								A	,,	0,4406		0,0,2203	75.0	78.0	77.0		1557,1557,1557	0.4	1.0	5		77	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	,,	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	,,	519/951,519/808,519/687	140167432	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1557A>G	5.37:g.140167432A>G			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A519	ENST00000504120.2	37	c.1557	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	A	NM_018900		140167432	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.949	G
PCDHA1	56147	genome.wustl.edu	37	5	140167441	140167441	+	Silent	SNP	C	C	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167441C>G	ENST00000504120.2	+	1	1566	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	PCDHA1_ENST00000394633.3_Silent_p.P522P|PCDHA1_ENST00000378133.3_Silent_p.P522P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCAGCCCCTGGACCACG	0.677																																																	0													75.0	79.0	78.0					5																	140167441		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1566C>G	5.37:g.140167441C>G			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P522	ENST00000504120.2	37	c.1566	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140167441	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.290	G
PCDHA1	56147	genome.wustl.edu	37	5	140167459	140167459	+	Silent	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167459G>A	ENST00000504120.2	+	1	1584	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	PCDHA1_ENST00000394633.3_Silent_p.L528L|PCDHA1_ENST00000378133.3_Silent_p.L528L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGGAGCTGGAGCTGCTGC	0.677																																																	0													73.0	77.0	76.0					5																	140167459		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1584G>A	5.37:g.140167459G>A			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L528	ENST00000504120.2	37	c.1584	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140167459	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.997	A
PCDHA2	56146	genome.wustl.edu	37	5	140175999	140175999	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140175999G>A	ENST00000526136.1	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A484T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A484T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGGACGCGCAGGAGAA	0.657																																																	0													70.0	73.0	72.0					5																	140175999		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1450G>A	5.37:g.140175999G>A	ENSP00000431748:p.Ala484Thr		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A484T	ENST00000526136.1	37	c.1450	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	7.021	0.558774	0.13436	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51325	0.71;0.71;0.71	3.94	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.30262	0.0759	N	0.25201	0.72	0.09310	N	0.999999	P;B;B	0.35656	0.514;0.143;0.112	B;B;B	0.36885	0.061;0.235;0.039	T	0.16958	-1.0385	10	0.52906	T	0.07	.	4.9227	0.13878	0.1788:0.0:0.6466:0.1745	.	484;484;484	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	484	ENSP00000430584:A484T;ENSP00000367372:A484T;ENSP00000431748:A484T	ENSP00000367372:A484T	A	+	1	0	PCDHA2	140156183	0.000000	0.05858	0.998000	0.56505	0.306000	0.27790	-0.061000	0.11693	1.915000	0.55452	0.644000	0.83932	GCG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140175999	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.280	A
PCDHGB1	56104	genome.wustl.edu	37	5	140730746	140730746	+	Missense_Mutation	SNP	G	G	A	rs549882944		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140730746G>A	ENST00000523390.1	+	1	919	c.919G>A	c.(919-921)Gag>Aag	p.E307K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTTGAAGAGACAAGTAG	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		23444	0.0		0.0	False		,,,				2504	0.001																0													118.0	117.0	117.0					5																	140730746		1939	4155	6094	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.919G>A	5.37:g.140730746G>A	ENSP00000429273:p.Glu307Lys		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E307K	ENST00000523390.1	37	c.919	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	4.985	0.182961	0.09495	.	.	ENSG00000254221	ENST00000523390	T	0.01725	4.67	5.43	2.66	0.31614	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.27975	0.815	0.25808	N	0.984435	B;B	0.14012	0.002;0.009	B;B	0.17979	0.008;0.02	T	0.45293	-0.9271	9	0.25751	T	0.34	.	10.0212	0.42044	0.2219:0.0:0.7781:0.0	.	307;307	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	307	ENSP00000429273:E307K	ENSP00000429273:E307K	E	+	1	0	PCDHGB1	140710930	0.000000	0.05858	0.974000	0.42286	0.154000	0.21943	-0.663000	0.05299	0.782000	0.33613	0.563000	0.77884	GAG	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140730746	+1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.999	A
RAB3GAP1	22930	genome.wustl.edu	37	2	135891462	135891462	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:135891462C>T	ENST00000264158.8	+	15	1401	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S453F|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S409F	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	453					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCTGCACCATCTGACAGTTTA	0.348																																																	0													127.0	123.0	125.0					2																	135891462		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1358C>T	2.37:g.135891462C>T	ENSP00000264158:p.Ser453Phe		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.S453F	ENST00000264158.8	37	c.1358	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530951	0.64972	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46451	0.88;0.87;0.88	5.16	5.16	0.70880	.	0.385097	0.29451	N	0.012118	T	0.57533	0.2060	L	0.46157	1.445	0.46678	D	0.999157	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	T	0.56074	-0.8039	10	0.48119	T	0.1	-14.5053	19.0076	0.92857	0.0:1.0:0.0:0.0	.	453;453	C9J837;Q15042	.;RB3GP_HUMAN	F	453;409;453	ENSP00000264158:S453F;ENSP00000444306:S409F;ENSP00000411418:S453F	ENSP00000264158:S453F	S	+	2	0	RAB3GAP1	135607932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.863000	0.62983	2.571000	0.86741	0.591000	0.81541	TCT	RAB3GAP1	-	NULL		0.348	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	C	NM_012233		135891462	+1	no_errors	ENST00000264158	ensembl	human	known	70_37	missense	SNP	0.998	T
RFX6	222546	genome.wustl.edu	37	6	117199067	117199067	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:117199067C>T	ENST00000332958.2	+	2	348	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	111					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAAACCATCACGCAGATTGTG	0.483																																																	0													82.0	75.0	77.0					6																	117199067		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.332C>T	6.37:g.117199067C>T	ENSP00000332208:p.Thr111Met		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.T111M	ENST00000332958.2	37	c.332	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575678	0.86645	.	.	ENSG00000185002	ENST00000332958	T	0.57436	0.4	5.36	5.36	0.76844	.	0.107942	0.41097	D	0.000946	T	0.51329	0.1668	L	0.51422	1.61	0.49389	D	0.999784	D	0.63046	0.992	P	0.50791	0.65	T	0.52510	-0.8566	10	0.54805	T	0.06	-5.6506	19.2662	0.93985	0.0:1.0:0.0:0.0	.	111	Q8HWS3	RFX6_HUMAN	M	111	ENSP00000332208:T111M	ENSP00000332208:T111M	T	+	2	0	RFX6	117305760	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.328000	0.65887	2.789000	0.95967	0.591000	0.81541	ACG	RFX6	-	NULL		0.483	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117199067	+1	no_errors	ENST00000332958	ensembl	human	known	70_37	missense	SNP	1.000	T
RHBDD1	84236	genome.wustl.edu	37	2	227773550	227773550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:227773550delC	ENST00000341329.3	+	5	910	c.668delC	c.(667-669)tccfs	p.S224fs	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Frame_Shift_Del_p.S224fs|RHBDD1_ENST00000409053.1_Frame_Shift_Del_p.S58fs	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	224					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GGTTTTTCCTCCAGTGTTGGT	0.313																																																	0													143.0	134.0	137.0					2																	227773550		2203	4300	6503	SO:0001589	frameshift_variant	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.668delC	2.37:g.227773550delC	ENSP00000344779:p.Ser224fs		Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Frame_Shift_Del	DEL	pfam_Peptidase_S54_rhomboid_dom	p.S224fs	ENST00000341329.3	37	c.668	CCDS2464.1	2																																																																																			RHBDD1	-	NULL		0.313	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD1	HGNC	protein_coding	OTTHUMT00000256885.2	C			227773550	+1	no_errors	ENST00000341329	ensembl	human	known	70_37	frame_shift_del	DEL	0.190	-
SBNO1	55206	genome.wustl.edu	37	12	123799990	123799990	+	Splice_Site	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:123799990C>T	ENST00000602398.1	-	23	3177	c.3050G>A	c.(3049-3051)gGg>gAg	p.G1017E	SBNO1_ENST00000602750.1_Splice_Site_p.G1016E|SBNO1_ENST00000267176.4_Splice_Site_p.G1016E|SBNO1_ENST00000420886.2_Splice_Site_p.G1017E			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1017					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTAAGTGCCCCCTGTTAAAA	0.368																																																	0													136.0	129.0	131.0					12																	123799990		2203	4300	6503	SO:0001630	splice_region_variant	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3049-1G>A	12.37:g.123799990C>T			Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.G1017E	ENST00000602398.1	37	c.3050	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417125	0.83449	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.74315	-0.83;-0.83	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93094	0.6502	10	0.87932	D	0	-19.7788	16.242	0.82418	0.1332:0.8668:0.0:0.0	.	1017;1016	A3KN83;A3KN83-2	SBNO1_HUMAN;.	E	1017;1016	ENSP00000387361:G1017E;ENSP00000267176:G1016E	ENSP00000267176:G1016E	G	-	2	0	SBNO1	122365943	1.000000	0.71417	0.993000	0.49108	0.693000	0.40251	6.067000	0.71193	2.715000	0.92844	0.563000	0.77884	GGG	SBNO1	-	NULL		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183	Missense_Mutation	123799990	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN10A	6336	genome.wustl.edu	37	3	38793865	38793865	+	Missense_Mutation	SNP	G	G	A	rs542554745		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:38793865G>A	ENST00000449082.2	-	11	1599	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	534					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAGAGCCCCGATGGCTTTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18004	0.001		0.0	False		,,,				2504	0.0																0													59.0	64.0	63.0					3																	38793865		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1600C>T	3.37:g.38793865G>A	ENSP00000390600:p.Arg534Trp		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R534W	ENST00000449082.2	37	c.1600	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465953	0.26335	.	.	ENSG00000185313	ENST00000449082	D	0.96745	-4.11	4.87	4.0	0.46444	.	0.455677	0.21429	N	0.074697	D	0.95130	0.8422	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.49999	0.628	D	0.90180	0.4242	10	0.72032	D	0.01	.	6.9079	0.24319	0.1597:0.1451:0.6952:0.0	.	534	Q9Y5Y9	SCNAA_HUMAN	W	534	ENSP00000390600:R534W	ENSP00000390600:R534W	R	-	1	2	SCN10A	38768869	0.000000	0.05858	0.037000	0.18230	0.092000	0.18411	0.097000	0.15168	1.423000	0.47198	-0.369000	0.07265	CGG	SCN10A	-	NULL		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38793865	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	0.002	A
SNRNP48	154007	genome.wustl.edu	37	6	7605687	7605688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:7605687_7605688insG	ENST00000342415.5	+	7	833_834	c.774_775insG	c.(775-777)gagfs	p.E259fs		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	259					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ATTGGCAAGAAGAGCAAGAGAA	0.386																																																	0																																										SO:0001589	frameshift_variant	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.775dupG	6.37:g.7605688_7605688dupG	ENSP00000339834:p.Glu259fs		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Frame_Shift_Ins	INS	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E258fs	ENST00000342415.5	37	c.774_775	CCDS4502.1	6																																																																																			SNRNP48	-	NULL		0.386	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	-	NM_152551		7605688	+1	no_errors	ENST00000342415	ensembl	human	known	70_37	frame_shift_ins	INS	0.984:1.000	G
TACC3	10460	genome.wustl.edu	37	4	1732898	1732899	+	Splice_Site	INS	-	-	GAGA			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:1732898_1732899insGAGA	ENST00000313288.4	+	6	1567_1568		c.e6-1			NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3						astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTTTCCTCCAGGAGAGAGCCTT	0.599																																					Ovarian(120;482 2294 11894 35824)												0																																										SO:0001630	splice_region_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1462-1->GAGA	4.37:g.1732899_1732902dupGAGA			Q2NKK4|Q3KQS5|Q9UMQ1	Frame_Shift_Ins	INS	pfam_TACC	p.A490fs	ENST00000313288.4	37	c.1463_1462	CCDS3352.1	4																																																																																			TACC3	-	NULL		0.599	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	-		Intron	1732899	+1	no_errors	ENST00000313288	ensembl	human	known	70_37	frame_shift_ins	INS	0.082:0.084	GAGA
TACO1	51204	genome.wustl.edu	37	17	61685348	61685348	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:61685348G>A	ENST00000258975.6	+	5	1092	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	294					regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						TCACGTCTATGATAACATTGA	0.537																																																	0													82.0	75.0	77.0					17																	61685348		2203	4300	6503	SO:0001583	missense	51204			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"""coiled-coil domain containing 44"""	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.880G>A	17.37:g.61685348G>A	ENSP00000258975:p.Asp294Asn		B2RD21|Q8N3N6|Q9UI60	Missense_Mutation	SNP	pfam_Transcrip_reg_TACO1-like	p.D294N	ENST00000258975.6	37	c.880	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601704	0.87055	.	.	ENSG00000136463	ENST00000258975	T	0.42900	0.96	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.53344	-0.8452	10	0.05959	T	0.93	-32.5236	16.3252	0.82977	0.0:0.0:1.0:0.0	.	294	Q9BSH4	TACO1_HUMAN	N	294	ENSP00000258975:D294N	ENSP00000258975:D294N	D	+	1	0	TACO1	59039080	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.054000	0.76649	2.714000	0.92807	0.561000	0.74099	GAT	TACO1	-	pfam_Transcrip_reg_TACO1-like		0.537	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	G	NM_016360		61685348	+1	no_errors	ENST00000258975	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMELESS	8914	genome.wustl.edu	37	12	56811921	56811921	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:56811921C>T	ENST00000553532.1	-	27	3601	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E648K|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E1150K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTATTACCCTCTGGGGATGCC	0.537																																																	0													162.0	169.0	167.0					12																	56811921		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3451G>A	12.37:g.56811921C>T	ENSP00000450607:p.Glu1151Lys			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E1151K	ENST00000553532.1	37	c.3451	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460065	0.26248	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12465	2.68;2.68;2.68	5.05	-0.0295	0.13917	Timeless C-terminal (1);	2.956580	0.01122	N	0.005818	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31138	-0.9954	10	0.06757	T	0.87	.	8.2342	0.31616	0.0:0.5744:0.0:0.4256	.	1151	Q9UNS1	TIM_HUMAN	K	1150;1151;648	ENSP00000229201:E1150K;ENSP00000450607:E1151K;ENSP00000450848:E648K	ENSP00000229201:E1151K	E	-	1	0	TIMELESS	55098188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.413000	0.21148	-0.213000	0.10094	-0.140000	0.14226	GAG	TIMELESS	-	pfam_TIMELESS_C		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56811921	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7572982	7572982	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:7572982G>C	ENST00000269305.4	-	11	1316	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.S376C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	376	Basic (repression of DNA-binding).|Interaction with CARM1.		S -> A (in a sporadic cancer; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGGAGGTAGACTGACCCTT	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											203.0	182.0	189.0					17																	7572982		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1127C>G	17.37:g.7572982G>C	ENSP00000269305:p.Ser376Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S376C	ENST00000269305.4	37	c.1127	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897178	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99282	-5.68;-5.68	5.31	4.34	0.51931	.	0.200176	0.43416	D	0.000573	D	0.98254	0.9422	M	0.75447	2.3	0.34679	D	0.72451	B	0.10296	0.003	B	0.15484	0.013	D	0.99981	1.2568	10	0.59425	D	0.04	-19.5662	11.9826	0.53129	0.0:0.1736:0.8264:0.0	.	376	P04637	P53_HUMAN	C	376;376;365;27	ENSP00000269305:S376C;ENSP00000391478:S376C	ENSP00000269305:S376C	S	-	2	0	TP53	7513707	1.000000	0.71417	0.951000	0.38953	0.657000	0.38888	2.761000	0.47589	1.475000	0.48197	-0.264000	0.10439	TCT	TP53	-	NULL		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7572982	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.956	C
TPO	7173	genome.wustl.edu	37	2	1500418	1500418	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:1500418G>A	ENST00000345913.4	+	13	2358	c.2267G>A	c.(2266-2268)tGt>tAt	p.C756Y	TPO_ENST00000382198.1_Missense_Mutation_p.C583Y|TPO_ENST00000382201.3_Missense_Mutation_p.C699Y|TPO_ENST00000337415.3_Missense_Mutation_p.C756Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.C583Y|TPO_ENST00000346956.3_Missense_Mutation_p.C756Y|TPO_ENST00000329066.4_Missense_Mutation_p.C756Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	756	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTTGTGCACTGTGAGGAGTCT	0.542																																																	0													159.0	151.0	154.0					2																	1500418		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2267G>A	2.37:g.1500418G>A	ENSP00000318820:p.Cys756Tyr		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.C756Y	ENST00000345913.4	37	c.2267	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.874962|1.874962	0.33162|0.33162	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.75938|.	-0.98;-0.98;1.91;1.91;-0.98;1.91;1.91;1.91;-0.05|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Complement control module (2);Sushi/SCR/CCP (2);|.	0.524277|.	0.21193|.	N|.	0.078606|.	T|T	0.72145|0.72145	0.3424|0.3424	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.78314|.	0.991;0.968;0.991;0.979|.	T|T	0.71189|0.71189	-0.4666|-0.4666	10|5	0.87932|.	D|.	0|.	-23.277|-23.277	17.0292|17.0292	0.86456|0.86456	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	756;583;699;756|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	Y|M	756;756;756;583;756;699;583;685;230|231	ENSP00000337263:C756Y;ENSP00000318820:C756Y;ENSP00000263886:C756Y;ENSP00000332044:C583Y;ENSP00000329869:C756Y;ENSP00000371636:C699Y;ENSP00000371633:C583Y;ENSP00000405788:C685Y;ENSP00000419461:C230Y|.	ENSP00000329869:C756Y|.	C|V	+|+	2|1	0|0	TPO|TPO	1479425|1479425	1.000000|1.000000	0.71417|0.71417	0.071000|0.071000	0.20095|0.20095	0.081000|0.081000	0.17604|0.17604	4.462000|4.462000	0.60121|0.60121	2.439000|2.439000	0.82584|0.82584	0.591000|0.591000	0.81541|0.81541	TGT|GTG	TPO	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.542	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1500418	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.653	A
TRPC3	7222	genome.wustl.edu	37	4	122853996	122853996	+	Silent	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:122853996G>A	ENST00000379645.3	-	2	490	c.417C>T	c.(415-417)aaC>aaT	p.N139N	TRPC3_ENST00000264811.5_Silent_p.N66N|TRPC3_ENST00000513531.1_Silent_p.N66N	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	54					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCAGTTGACGTTCAGCGTCT	0.637																																																	0													62.0	58.0	59.0					4																	122853996		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.417C>T	4.37:g.122853996G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.N139	ENST00000379645.3	37	c.417	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122853996	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A
CFAP46	54777	genome.wustl.edu	37	10	134627759	134627759	+	Splice_Site	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr10:134627759C>T	ENST00000368586.5	-	54	7386		c.e54-1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTTAGCATTTCTGCAAGGAGA	0.557																																																	0													74.0	62.0	66.0					10																	134627759		2202	4299	6501	SO:0001630	splice_region_variant	54777																														ENST00000368586.5:c.7286-1G>A	10.37:g.134627759C>T				Splice_Site	SNP	-	e16-1	ENST00000368586.5	37	c.1769-1	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277215	0.23307	.	.	ENSG00000171811	ENST00000435957;ENST00000368586;ENST00000263170	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.62	0.56597	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf93	134477749	0.928000	0.31464	0.231000	0.23993	0.319000	0.28217	3.295000	0.51794	2.129000	0.65627	0.655000	0.94253	.	TTC40	-	-		0.557	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	C		Intron	134627759	-1	no_errors	ENST00000263170	ensembl	human	known	70_37	splice_site	SNP	0.853	T
TTN	7273	genome.wustl.edu	37	2	179417593	179417593	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:179417593C>T	ENST00000591111.1	-	285	85335	c.85111G>A	c.(85111-85113)Gaa>Aaa	p.E28371K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20947K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E30012K|TTN_ENST00000359218.5_Missense_Mutation_p.E21072K|TTN_ENST00000342992.6_Missense_Mutation_p.E27444K|TTN_ENST00000342175.6_Missense_Mutation_p.E21139K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28371	Fibronectin type-III 106. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCAATTTCATTTTCTGCA	0.428																																																	0													49.0	48.0	48.0					2																	179417593		1867	4100	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85111G>A	2.37:g.179417593C>T	ENSP00000465570:p.Glu28371Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E27444K	ENST00000591111.1	37	c.82330		2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396774	0.83120	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.69	5.69	0.88448	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65091	0.2658	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.66878	-0.5812	9	0.87932	D	0	.	20.179	0.98193	0.0:1.0:0.0:0.0	.	20947;21072;21139;28371	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27444;20947;21139;21072;20944	ENSP00000343764:E27444K;ENSP00000434586:E20947K;ENSP00000340554:E21139K;ENSP00000352154:E21072K	ENSP00000340554:E21139K	E	-	1	0	TTN	179125839	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.847000	0.97988	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179417593	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19419826	19419826	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:19419826G>A	ENST00000375254.3	-	96	14119	c.14092C>T	c.(14092-14094)Cac>Tac	p.H4698Y	UBR4_ENST00000375267.2_Missense_Mutation_p.H4698Y|UBR4_ENST00000375217.2_Missense_Mutation_p.H4691Y|UBR4_ENST00000375224.1_Missense_Mutation_p.H405Y|UBR4_ENST00000375226.2_Missense_Mutation_p.H4674Y|UBR4_ENST00000429347.2_Missense_Mutation_p.H221Y|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000543981.1_Missense_Mutation_p.H362Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTAGGGATGTGCTTTTTCATG	0.507																																																	0													136.0	123.0	127.0					1																	19419826		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14092C>T	1.37:g.19419826G>A	ENSP00000364403:p.His4698Tyr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.H4698Y	ENST00000375254.3	37	c.14092	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151309	0.57151	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.07	6.07	0.98685	.	0.046880	0.85682	D	0.000000	T	0.33469	0.0864	L	0.37561	1.115	0.80722	D	1	B;B;P;B	0.35208	0.274;0.274;0.49;0.232	B;B;B;B	0.39706	0.152;0.152;0.307;0.058	T	0.02829	-1.1105	10	0.48119	T	0.1	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	362;221;4698;4674	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	Y	4698;4698;4691;4674;405;221;362	ENSP00000364403:H4698Y;ENSP00000364416:H4698Y;ENSP00000364365:H4691Y;ENSP00000364374:H4674Y;ENSP00000364372:H405Y;ENSP00000394173:H221Y;ENSP00000444070:H362Y	ENSP00000364365:H4691Y	H	-	1	0	UBR4	19292413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	CAC	UBR4	-	NULL		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19419826	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A
UGT2A3	79799	genome.wustl.edu	37	4	69796884	69796884	+	Missense_Mutation	SNP	T	T	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:69796884T>G	ENST00000251566.4	-	4	1103	c.1073A>C	c.(1072-1074)aAt>aCt	p.N358T	UGT2A3_ENST00000420231.2_Missense_Mutation_p.N69T	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	358					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGAAGATCATTCTGGGGTAT	0.358																																																	0													143.0	124.0	130.0					4																	69796884		2203	4300	6503	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1073A>C	4.37:g.69796884T>G	ENSP00000251566:p.Asn358Thr		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N358T	ENST00000251566.4	37	c.1073	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510420	0.44660	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63744	-0.06;-0.06	1.99	1.99	0.26369	.	0.057318	0.64402	D	0.000002	T	0.76933	0.4057	M	0.87328	2.875	0.36710	D	0.880584	D	0.69078	0.997	D	0.70716	0.97	T	0.80504	-0.1353	10	0.87932	D	0	.	7.5652	0.27874	0.0:0.0:0.0:1.0	.	358	Q6UWM9	UD2A3_HUMAN	T	358;69	ENSP00000251566:N358T;ENSP00000440115:N69T	ENSP00000251566:N358T	N	-	2	0	UGT2A3	69831473	1.000000	0.71417	0.983000	0.44433	0.639000	0.38242	6.140000	0.71738	0.905000	0.36596	0.402000	0.26972	AAT	UGT2A3	-	pfam_UDP_glucos_trans		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	T	NM_024743		69796884	-1	no_errors	ENST00000251566	ensembl	human	known	70_37	missense	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	215901538	215901538	+	Missense_Mutation	SNP	T	T	C			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:215901538T>C	ENST00000307340.3	-	61	12286	c.11900A>G	c.(11899-11901)gAt>gGt	p.D3967G	USH2A_ENST00000366943.2_Missense_Mutation_p.D3967G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3967	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTGGAAAATCTTGAGGTGG	0.483										HNSCC(13;0.011)																																							0													85.0	83.0	84.0					1																	215901538		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11900A>G	1.37:g.215901538T>C	ENSP00000305941:p.Asp3967Gly		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D3967G	ENST00000307340.3	37	c.11900	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467916	0.12402	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52295	0.67;0.67	5.53	-4.05	0.03998	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341617	0.20796	N	0.085531	T	0.12092	0.0294	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26538	-1.0100	10	0.02654	T	1	.	1.5291	0.02532	0.1274:0.3149:0.2571:0.3006	.	3967	O75445	USH2A_HUMAN	G	3967	ENSP00000305941:D3967G;ENSP00000355910:D3967G	ENSP00000305941:D3967G	D	-	2	0	USH2A	213968161	0.002000	0.14202	0.005000	0.12908	0.974000	0.67602	0.569000	0.23638	-0.630000	0.05567	0.482000	0.46254	GAT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		215901538	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.000	C
WDR53	348793	genome.wustl.edu	37	3	196287874	196287874	+	Missense_Mutation	SNP	T	T	C			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:196287874T>C	ENST00000332629.5	-	3	1040	c.473A>G	c.(472-474)gAt>gGt	p.D158G	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	158										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACCTGCATATCCAGTCCACA	0.428																																																	0													73.0	76.0	75.0					3																	196287874		2203	4300	6503	SO:0001583	missense	348793			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.473A>G	3.37:g.196287874T>C	ENSP00000328079:p.Asp158Gly		A0MNP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D158G	ENST00000332629.5	37	c.473	CCDS3318.1	3	.	.	.	.	.	.	.	.	.	.	T	24.4	4.521973	0.85600	.	.	ENSG00000185798	ENST00000332629;ENST00000456677	D;T	0.89270	-2.49;-0.06	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96356	0.9262	10	0.59425	D	0.04	-6.4201	15.5629	0.76262	0.0:0.0:0.0:1.0	.	158	Q7Z5U6	WDR53_HUMAN	G	158	ENSP00000328079:D158G;ENSP00000408087:D158G	ENSP00000328079:D158G	D	-	2	0	WDR53	197772271	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.148000	0.77389	2.261000	0.74972	0.533000	0.62120	GAT	WDR53	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.428	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR53	HGNC	protein_coding	OTTHUMT00000340689.1	T	NM_182627		196287874	-1	no_errors	ENST00000332629	ensembl	human	known	70_37	missense	SNP	1.000	C
WHSC1	7468	genome.wustl.edu	37	4	1944085	1944085	+	Intron	SNP	C	C	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:1944085C>G	ENST00000382895.3	+	11	2312				WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000398261.1_Missense_Mutation_p.P634R|WHSC1_ENST00000503128.1_Missense_Mutation_p.P634R|WHSC1_ENST00000420906.2_3'UTR|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000508803.1_Intron	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCCACACCAGTCAAGTTG	0.408			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													177.0	182.0	180.0					4																	1944085		2203	4300	6503	SO:0001627	intron_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1881+2580C>G	4.37:g.1944085C>G			A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,pfscan_PWWP,pfscan_HMG_superfamily	p.P634R	ENST00000382895.3	37	c.1901	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732857	0.48939	.	.	ENSG00000109685	ENST00000503128;ENST00000398261	T;T	0.37411	1.2;1.2	5.66	5.66	0.87406	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	B	0.31859	0.343	B	0.36464	0.225	T	0.16600	-1.0397	8	0.52906	T	0.07	.	15.5877	0.76499	0.0:1.0:0.0:0.0	.	634	O96028-3	.	R	634	ENSP00000425761:P634R;ENSP00000381311:P634R	ENSP00000308780:P634R	P	+	2	0	WHSC1	1913883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.830000	0.97506	0.585000	0.79938	CCA	WHSC1	-	NULL		0.408	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1944085	+1	no_errors	ENST00000312087	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF318	24149	genome.wustl.edu	37	6	43323777	43323777	+	Missense_Mutation	SNP	A	A	G			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:43323777A>G	ENST00000361428.2	-	4	1372	c.1295T>C	c.(1294-1296)aTt>aCt	p.I432T	ZNF318_ENST00000318149.3_Missense_Mutation_p.I432T	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	432					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGTTTTCAATCTCTGAGGC	0.522																																																	0													61.0	64.0	63.0					6																	43323777		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1295T>C	6.37:g.43323777A>G	ENSP00000354964:p.Ile432Thr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.I432T	ENST00000361428.2	37	c.1295	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394886	0.62066	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03094	4.05;4.05	6.08	6.08	0.98989	.	0.225560	0.37530	N	0.002050	T	0.01387	0.0045	N	0.14661	0.345	0.38961	D	0.958558	P	0.42692	0.787	B	0.36666	0.23	T	0.60337	-0.7283	10	0.66056	D	0.02	-8.8556	15.2222	0.73320	1.0:0.0:0.0:0.0	.	432	Q5VUA4	ZN318_HUMAN	T	432	ENSP00000323032:I432T;ENSP00000354964:I432T	ENSP00000323032:I432T	I	-	2	0	ZNF318	43431755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.464000	0.60134	2.333000	0.79357	0.482000	0.46254	ATT	ZNF318	-	NULL		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	A	NM_014345		43323777	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	G
