#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCB11	8647	genome.wustl.edu	37	2	169870851	169870851	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr2:169870851T>A	ENST00000263817.6	-	4	236	c.112A>T	c.(112-114)Aag>Tag	p.K38*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	38					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCACCTTTCTTCTCATCTTGT	0.368																																						dbGAP											0													261.0	242.0	248.0					2																	169870851		1860	4098	5958	-	-	-	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.112A>T	2.37:g.169870851T>A	ENSP00000263817:p.Lys38*		Q53TL2|Q9UNB2	Nonsense_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.K38*	ENST00000263817.6	37	c.112	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	T	37	6.345418	0.97494	.	.	ENSG00000073734	ENST00000263817	.	.	.	4.89	4.89	0.63831	.	1.256990	0.05083	N	0.483880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6445	13.9847	0.64326	0.0:0.0:0.0:1.0	.	.	.	.	X	38	.	ENSP00000263817:K38X	K	-	1	0	ABCB11	169579097	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.568000	0.53820	1.957000	0.56846	0.533000	0.62120	AAG	ABCB11	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000073734		0.368	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	369	0.00	0	T	NM_003742		169870851	169870851	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	nonsense	618	35.01	334	SNP	1.000	A
ACO1	48	genome.wustl.edu	37	9	32431799	32431799	+	Silent	SNP	T	T	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:32431799T>C	ENST00000309951.6	+	15	1947	c.1809T>C	c.(1807-1809)taT>taC	p.Y603Y	ACO1_ENST00000379923.1_Silent_p.Y603Y|ACO1_ENST00000541043.1_Silent_p.Y504Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	603					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCGTCAGTATGTCATCCCGG	0.498											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													106.0	96.0	99.0					9																	32431799		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1809T>C	9.37:g.32431799T>C		832	D3DRK7|Q14652|Q5VZA7	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.Y603	ENST00000309951.6	37	c.1809	CCDS6525.1	9																																																																																			ACO1	-	superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.498	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	91	0.00	0	T	NM_002197		32431799	32431799	+1	no_errors	ENST00000309951	ensembl	human	known	69_37n	silent	88	28.57	36	SNP	0.804	C
ADAMTS17	170691	genome.wustl.edu	37	15	100801723	100801723	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr15:100801723T>C	ENST00000268070.4	-	6	1097	c.992A>G	c.(991-993)gAc>gGc	p.D331G	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	331	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGGCGGGTCGTCCTTCCCGCC	0.572																																						dbGAP											0													80.0	64.0	69.0					15																	100801723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.992A>G	15.37:g.100801723T>C	ENSP00000268070:p.Asp331Gly		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D331G	ENST00000268070.4	37	c.992	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121769	0.56613	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87256	-2.23	5.51	5.51	0.81932	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.059361	0.64402	D	0.000005	D	0.85517	0.5715	N	0.13198	0.31	0.58432	D	0.999999	D;D	0.67145	0.971;0.996	P;P	0.60609	0.775;0.877	D	0.84128	0.0410	10	0.22109	T	0.4	.	15.6466	0.77061	0.0:0.0:0.0:1.0	.	88;331	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	G	331;88	ENSP00000268070:D331G	ENSP00000268070:D331G	D	-	2	0	ADAMTS17	98619246	1.000000	0.71417	0.825000	0.32803	0.022000	0.10575	6.872000	0.75536	2.088000	0.63022	0.533000	0.62120	GAC	ADAMTS17	-	pfscan_Peptidase_M12B	ENSG00000140470		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	58	0.00	0	T	NM_139057		100801723	100801723	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.999	C
AGPAT3	56894	genome.wustl.edu	37	21	45400990	45400990	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr21:45400990C>A	ENST00000398063.2	+	8	1456	c.964C>A	c.(964-966)Ctc>Atc	p.L322I	AGPAT3_ENST00000398061.1_Missense_Mutation_p.L322I|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.L322I|AGPAT3_ENST00000291572.8_Missense_Mutation_p.L322I|AGPAT3_ENST00000327505.2_Missense_Mutation_p.L322I|AGPAT3_ENST00000546158.1_Missense_Mutation_p.L322I	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	322					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CCTGTCTCCCCTCTTCAGTTT	0.552																																					Pancreas(60;623 1650 5574 52796)	dbGAP											0													129.0	114.0	119.0					21																	45400990		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.964C>A	21.37:g.45400990C>A	ENSP00000381140:p.Leu322Ile		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.L322I	ENST00000398063.2	37	c.964	CCDS13703.1	21	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102161	0.37048	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.37897	1.145	0.80722	D	1	P;B	0.39181	0.663;0.023	B;B	0.42692	0.395;0.023	T	0.64719	-0.6341	10	0.11794	T	0.64	-27.8965	18.1548	0.89687	0.0:1.0:0.0:0.0	.	342;322	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	I	322	ENSP00000291572:L322I;ENSP00000381138:L322I;ENSP00000332989:L322I;ENSP00000381140:L322I;ENSP00000381135:L322I;ENSP00000443510:L322I	ENSP00000291572:L322I	L	+	1	0	AGPAT3	44225418	1.000000	0.71417	0.261000	0.24466	0.447000	0.32167	7.264000	0.78432	2.286000	0.76751	0.467000	0.42956	CTC	AGPAT3	-	NULL	ENSG00000160216		0.552	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195722.1	66	0.00	0	C	NM_020132		45400990	45400990	+1	no_errors	ENST00000291572	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	1.000	A
AIFM3	150209	genome.wustl.edu	37	22	21334332	21334332	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr22:21334332C>T	ENST00000399167.2	+	19	1916	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.A559V|AIFM3_ENST00000465606.1_3'UTR|LZTR1_ENST00000215739.8_5'Flank|XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000405089.1_Missense_Mutation_p.A565V|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000440238.2_Missense_Mutation_p.A559V|AIFM3_ENST00000335375.5_Missense_Mutation_p.A547V|AIFM3_ENST00000333607.6_Missense_Mutation_p.A559V	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	559					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATCGCCGTGGCCAGCATGAAC	0.612																																						dbGAP											0													67.0	54.0	58.0					22																	21334332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1676C>T	22.37:g.21334332C>T	ENSP00000382120:p.Ala559Val		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.A559V	ENST00000399167.2	37	c.1676	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.820673	0.96989	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.56280	1.765	0.80722	D	1	D;D;D;D;P	0.56035	0.966;0.974;0.97;0.97;0.949	P;P;P;P;P	0.53224	0.493;0.677;0.721;0.721;0.53	T	0.48234	-0.9053	10	0.41790	T	0.15	-12.8843	15.562	0.76256	0.0:1.0:0.0:0.0	.	547;547;565;559;559	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	V	559;559;565;547;559;559	ENSP00000382120:A559V;ENSP00000382116:A559V;ENSP00000385800:A565V;ENSP00000335369:A547V;ENSP00000390798:A559V;ENSP00000327671:A559V	ENSP00000327671:A559V	A	+	2	0	AIFM3	19664332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.802000	0.75175	2.530000	0.85305	0.655000	0.94253	GCC	AIFM3	-	superfamily_FAD/NAD-linked_Rdtase_dimer	ENSG00000183773		0.612	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	39	0.00	0	C	NM_144704		21334332	21334332	+1	no_errors	ENST00000399167	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	T
AKAP8L	26993	genome.wustl.edu	37	19	15514361	15514361	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr19:15514361T>A	ENST00000397410.5	-	4	417	c.287A>T	c.(286-288)aAc>aTc	p.N96I	AKAP8L_ENST00000595465.2_Intron|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	96						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAAGCGCTGGTTAATTCTGGA	0.522																																						dbGAP											0													129.0	131.0	130.0					19																	15514361		2048	4209	6257	-	-	-	SO:0001583	missense	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.287A>T	19.37:g.15514361T>A	ENSP00000380557:p.Asn96Ile		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.N96I	ENST00000397410.5	37	c.287	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413204	0.83449	.	.	ENSG00000011243	ENST00000397410	T	0.72505	-0.66	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	L	0.41492	1.28	0.43740	D	0.996237	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.991	T	0.80134	-0.1509	10	0.87932	D	0	-28.5396	13.0012	0.58676	0.0:0.0:0.0:1.0	.	96;96	B3KMD4;Q9ULX6	.;AKP8L_HUMAN	I	96	ENSP00000380557:N96I	ENSP00000380557:N96I	N	-	2	0	AKAP8L	15375361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.612000	0.61169	2.061000	0.61500	0.459000	0.35465	AAC	AKAP8L	-	NULL	ENSG00000011243		0.522	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	94	0.00	0	T	NM_014371		15514361	15514361	-1	no_errors	ENST00000397410	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	A
ALDH3B2	222	genome.wustl.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K133fs	ENST00000349015.3	37	c.396_395	CCDS31622.1	11																																																																																			ALDH3B2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000132746		0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	65	0.00	0	-	NM_000695		67433066	67433067	-1	no_errors	ENST00000349015	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:1.000	C
ARID1B	57492	genome.wustl.edu	37	6	157488246	157488246	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:157488246C>G	ENST00000350026.5	+	9	2914	c.2913C>G	c.(2911-2913)aaC>aaG	p.N971K	ARID1B_ENST00000346085.5_Missense_Mutation_p.N984K|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.N913K|ARID1B_ENST00000367148.1_Missense_Mutation_p.N971K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	971					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCATGAACAACAGCTCTA	0.587																																						dbGAP											0													154.0	153.0	153.0					6																	157488246		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2913C>G	6.37:g.157488246C>G	ENSP00000055163:p.Asn971Lys		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.N971K	ENST00000350026.5	37	c.2913	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047713	0.75846	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25414	2.05;2.05;2.05;2.05;2.05;2.05;1.8	5.64	4.76	0.60689	.	0.090702	0.85682	D	0.000000	T	0.18130	0.0435	L	0.38175	1.15	0.52501	D	0.999952	B;D;D;P	0.60575	0.161;0.979;0.988;0.589	B;B;P;B	0.50659	0.116;0.444;0.647;0.121	T	0.01001	-1.1485	10	0.72032	D	0.01	.	10.2309	0.43253	0.0:0.853:0.0:0.147	.	221;971;984;913	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	K	984;971;971;913;388;440;393;38	ENSP00000344546:N984K;ENSP00000055163:N971K;ENSP00000356116:N971K;ENSP00000275248:N913K;ENSP00000412835:N440K;ENSP00000313006:N393K;ENSP00000383596:N38K	ENSP00000275248:N913K	N	+	3	2	ARID1B	157529938	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.703000	0.37846	2.657000	0.90304	0.655000	0.94253	AAC	ARID1B	-	NULL	ENSG00000049618		0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	57	0.00	0	C	NM_020732		157488246	157488246	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	1.000	G
ASB6	140459	genome.wustl.edu	37	9	132404204	132404204	+	Silent	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:132404204C>A	ENST00000277458.4	-	1	240	c.75G>T	c.(73-75)ctG>ctT	p.L25L	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.W7L|ASB6_ENST00000277459.4_Silent_p.L25L	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	25					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CCTGGATCCCCAGGGAGCCCA	0.692																																						dbGAP											0													33.0	35.0	34.0					9																	132404204		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.75G>T	9.37:g.132404204C>A			Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.W7L	ENST00000277458.4	37	c.20	CCDS6924.1	9	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159464	0.38119	.	.	ENSG00000148331	ENST00000450050	T	0.45276	0.9	4.34	2.46	0.29980	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.26763	N	0.96996	B	0.15141	0.012	B	0.14023	0.01	T	0.19712	-1.0297	7	.	.	.	-13.0523	8.9329	0.35682	0.0:0.8153:0.0:0.1847	.	7	B4DRC4	.	L	7	ENSP00000416172:W7L	.	W	-	2	0	ASB6	131444025	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	1.826000	0.39092	0.795000	0.33922	-0.350000	0.07774	TGG	ASB6	-	NULL	ENSG00000148331		0.692	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1	13	0.00	0	C	NM_017873		132404204	132404204	-1	no_errors	ENST00000450050	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	1.000	A
ATP1A4	480	genome.wustl.edu	37	1	160121911	160121911	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr1:160121911G>C	ENST00000368081.4	+	1	552	c.81G>C	c.(79-81)aaG>aaC	p.K27N		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	27					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTTATCAAGAAAAAAATGG	0.507																																						dbGAP											0													86.0	82.0	83.0					1																	160121911		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.81G>C	1.37:g.160121911G>C	ENSP00000357060:p.Lys27Asn		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K27N	ENST00000368081.4	37	c.81	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880622	0.02530	.	.	ENSG00000132681	ENST00000368081	D	0.93366	-3.21	3.03	-1.52	0.08637	.	1.088290	0.07350	U	0.882269	T	0.67192	0.2867	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58679	-0.7594	10	0.33940	T	0.23	.	2.7778	0.05352	0.2388:0.0:0.3819:0.3792	.	27	Q13733	AT1A4_HUMAN	N	27	ENSP00000357060:K27N	ENSP00000357060:K27N	K	+	3	2	ATP1A4	158388535	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.411000	0.07142	-0.315000	0.08703	0.563000	0.77884	AAG	ATP1A4	-	NULL	ENSG00000132681		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	139	0.00	0	G	NM_144699		160121911	160121911	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	119	43.40	92	SNP	0.000	C
ATP4A	495	genome.wustl.edu	37	19	36054333	36054333	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr19:36054333C>T	ENST00000262623.3	-	2	137	c.109G>A	c.(109-111)Ggc>Agc	p.G37S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	37					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTCCTCTTGCCACCCCCGCCA	0.612																																						dbGAP											0													177.0	181.0	180.0					19																	36054333		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.109G>A	19.37:g.36054333C>T	ENSP00000262623:p.Gly37Ser		O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G37S	ENST00000262623.3	37	c.109	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701273	0.30142	.	.	ENSG00000105675	ENST00000262623	D	0.93019	-3.15	4.39	3.36	0.38483	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	0.409334	0.19035	N	0.124434	D	0.83622	0.5294	N	0.08118	0	0.28626	N	0.907903	B	0.14805	0.011	B	0.11329	0.006	T	0.73855	-0.3851	10	0.27785	T	0.31	.	9.9165	0.41436	0.0:0.899:0.0:0.101	.	37	P20648	ATP4A_HUMAN	S	37	ENSP00000262623:G37S	ENSP00000262623:G37S	G	-	1	0	ATP4A	40746173	.	.	0.909000	0.35828	0.507000	0.33981	.	.	1.083000	0.41159	0.644000	0.83932	GGC	ATP4A	-	pfam_ATPase_P-typ_H/K-transp_N	ENSG00000105675		0.612	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	230	0.00	0	C	NM_000704		36054333	36054333	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	71	36.61	41	SNP	0.989	T
C14orf180	400258	genome.wustl.edu	37	14	105054102	105054103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr14:105054102_105054103insC	ENST00000557649.1	+	3	464_465	c.128_129insC	c.(127-132)tgccccfs	p.CP43fs	C14orf180_ENST00000331952.2_Frame_Shift_Ins_p.CP43fs|C14orf180_ENST00000410013.1_Frame_Shift_Ins_p.CP43fs|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AACAGGAAGTGCCCCCCCTCCA	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.135dupC	14.37:g.105054109_105054109dupC	ENSP00000452502:p.Cys43fs			Frame_Shift_Ins	INS	NULL	p.S46fs	ENST00000557649.1	37	c.128_129	CCDS32166.1	14																																																																																			C14orf180	-	NULL	ENSG00000184601		0.703	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf180	HGNC	protein_coding	OTTHUMT00000410580.1	49	0.00	0	-	NM_001008404		105054102	105054103	+1	no_errors	ENST00000410013	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	0.035:0.048	C
C17orf97	400566	genome.wustl.edu	37	17	263747	263747	+	Silent	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr17:263747C>T	ENST00000360127.6	+	2	1129	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	401	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						ACCCCAATGCCGAGGAGGCCC	0.647																																						dbGAP											0													52.0	59.0	57.0					17																	263747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1113C>T	17.37:g.263747C>T			A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	NULL	p.A371	ENST00000360127.6	37	c.1113	CCDS32519.2	17																																																																																			C17orf97	-	NULL	ENSG00000187624		0.647	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	HGNC	protein_coding	OTTHUMT00000255648.4	32	0.00	0	C	NM_001013672		263747	263747	+1	no_errors	ENST00000360127	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.000	T
MFRP	83552	genome.wustl.edu	37	11	119213687	119213688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr11:119213687_119213688insG	ENST00000530681.1	-	10	1294_1295	c.1150_1151insC	c.(1150-1152)cacfs	p.H384fs	C1QTNF5_ENST00000525657.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Frame_Shift_Ins_p.H384fs|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.H384fs|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.T309fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	384	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H384fs*8(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGAGACGAGGTGGGGGGGTGGC	0.624																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)	GRCh37	CI052547	MFRP	I																																				-	-	-	SO:0001589	frameshift_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1151dupC	11.37:g.119213694_119213694dupG	ENSP00000456533:p.His384fs		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Ins	INS	pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt	p.H384fs	ENST00000530681.1	37	c.1151_1150	CCDS8421.1	11																																																																																			MFRP	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000235718		0.624	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	Clone_based_vega_gene	protein_coding	OTTHUMT00000415179.1	9	0.00	0	-	NM_031433		119213687	119213688	-1	no_errors	ENST00000449574	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	G
CAMK2A	815	genome.wustl.edu	37	5	149618306	149618306	+	Silent	SNP	G	G	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr5:149618306G>T	ENST00000348628.6	-	14	1655	c.990C>A	c.(988-990)tcC>tcA	p.S330S	CAMK2A_ENST00000398376.3_Silent_p.S341S|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	330					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCTCTGAGGATTCCTGCC	0.597																																						dbGAP											0													80.0	83.0	82.0					5																	149618306		2036	4192	6228	-	-	-	SO:0001819	synonymous_variant	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.990C>A	5.37:g.149618306G>T			Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S341	ENST00000348628.6	37	c.1023	CCDS43386.1	5																																																																																			CAMK2A	-	superfamily_Kinase-like_dom	ENSG00000070808		0.597	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	185	0.00	0	G	NM_015981		149618306	149618306	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	silent	27	55.00	33	SNP	0.964	T
CDCA7L	55536	genome.wustl.edu	37	7	21942714	21942714	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr7:21942714A>T	ENST00000406877.3	-	9	1495	c.1216T>A	c.(1216-1218)Tgt>Agt	p.C406S	CDCA7L_ENST00000356195.5_Missense_Mutation_p.C372S|CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000373934.4_Missense_Mutation_p.C360S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	406					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATCCCACGACAGGGGGGACAC	0.512																																						dbGAP											0													53.0	49.0	50.0					7																	21942714		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1216T>A	7.37:g.21942714A>T	ENSP00000383986:p.Cys406Ser		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.C406S	ENST00000406877.3	37	c.1216	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	A	32	5.167158	0.94768	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000435717	D;D;D	0.84873	-1.77;-1.74;-1.91	5.75	5.75	0.90469	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96174	0.9125	10	0.87932	D	0	-1.5032	16.3694	0.83347	1.0:0.0:0.0:0.0	.	360;406;405	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	S	372;406;360;57	ENSP00000348523:C372S;ENSP00000383986:C406S;ENSP00000363045:C360S	ENSP00000348523:C372S	C	-	1	0	CDCA7L	21909239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.282000	0.95840	2.333000	0.79357	0.533000	0.62120	TGT	CDCA7L	-	pfam_Znf-4CXXC_R1	ENSG00000164649		0.512	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4	69	0.00	0	A	NM_018719		21942714	21942714	-1	no_errors	ENST00000406877	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	T
CDH9	1007	genome.wustl.edu	37	5	26890538	26890538	+	Splice_Site	SNP	T	T	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr5:26890538T>C	ENST00000231021.4	-	8	1561	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAACTTACTTATTTCTGTGG	0.383																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													103.0	102.0	103.0					5																	26890538		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1390+1A>G	5.37:g.26890538T>C			Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I463M	ENST00000231021.4	37	c.1389	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	T	9.371	1.070597	0.20147	.	.	ENSG00000113100	ENST00000231021	T	0.50548	0.74	5.09	1.23	0.21249	Cadherin (4);Cadherin-like (1);	0.283721	0.37955	N	0.001879	T	0.32224	0.0822	L	0.38692	1.165	0.31556	N	0.658194	B;B	0.28760	0.221;0.221	B;B	0.35727	0.209;0.209	T	0.15665	-1.0429	9	.	.	.	.	2.409	0.04420	0.1382:0.0908:0.2113:0.5596	.	56;463	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	463	ENSP00000231021:I463M	.	I	-	3	3	CDH9	26926295	0.996000	0.38824	1.000000	0.80357	0.635000	0.38103	0.251000	0.18257	0.806000	0.34183	0.372000	0.22366	ATA	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	60	0.00	0	T	NM_016279	Missense_Mutation	26890538	26890538	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	134	12.42	19	SNP	0.992	C
CEMP1	752014	genome.wustl.edu	37	16	2580811	2580811	+	Silent	SNP	A	A	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr16:2580811A>C	ENST00000567119.1	-	1	598	c.264T>G	c.(262-264)ccT>ccG	p.P88P	CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Silent_p.P88P|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	88						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						CACAAGCCCCAGGGGCAGCCC	0.667																																						dbGAP											0													33.0	41.0	39.0					16																	2580811		2015	4154	6169	-	-	-	SO:0001819	synonymous_variant	0			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.264T>G	16.37:g.2580811A>C			B2RUY1	Silent	SNP	NULL	p.P88	ENST00000567119.1	37	c.264	CCDS42108.1	16																																																																																			CEMP1	-	NULL	ENSG00000205923		0.667	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEMP1	HGNC	protein_coding	OTTHUMT00000435686.1	29	0.00	0	A	NM_001048212		2580811	2580811	-1	no_errors	ENST00000382350	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.000	C
CFH	3075	genome.wustl.edu	37	1	196683022	196683022	+	Silent	SNP	A	A	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr1:196683022A>T	ENST00000367429.4	+	10	1734	c.1494A>T	c.(1492-1494)ggA>ggT	p.G498G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAAAGATGGATGGTCAGCTC	0.338																																						dbGAP											0													93.0	88.0	90.0					1																	196683022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1494A>T	1.37:g.196683022A>T			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G498	ENST00000367429.4	37	c.1494	CCDS1385.1	1																																																																																			CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	42	0.00	0	A	NM_000186		196683022	196683022	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	silent	70	56.25	90	SNP	0.955	T
COBLL1	22837	genome.wustl.edu	37	2	165551133	165551133	+	Silent	SNP	A	A	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr2:165551133A>T	ENST00000392717.2	-	13	3001	c.2997T>A	c.(2995-2997)ccT>ccA	p.P999P	COBLL1_ENST00000342193.4_Silent_p.P961P|COBLL1_ENST00000194871.6_Silent_p.P1028P|COBLL1_ENST00000409184.3_Silent_p.P961P|COBLL1_ENST00000375458.2_Silent_p.P923P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	999						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAACAGAGTGAGGCATTTTAC	0.488																																						dbGAP											0													50.0	51.0	50.0					2																	165551133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2997T>A	2.37:g.165551133A>T			A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.P1028	ENST00000392717.2	37	c.3084		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.488	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		83	0.00	0	A	NM_014900		165551133	165551133	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	silent	53	22.06	15	SNP	0.000	T
COL5A2	1290	genome.wustl.edu	37	2	189943788	189943788	+	Splice_Site	SNP	C	C	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr2:189943788C>G	ENST00000374866.3	-	15	1280		c.e15+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CGAGCACATACCAGAGGACCC	0.358																																						dbGAP											0													60.0	62.0	61.0					2																	189943788		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1005+1G>C	2.37:g.189943788C>G			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	-	e15+1	ENST00000374866.3	37	c.1005+1	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884129	0.72410	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6793	0.77354	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189652033	1.000000	0.71417	0.993000	0.49108	0.836000	0.47400	5.298000	0.65710	2.729000	0.93468	0.655000	0.94253	.	COL5A2	-	-	ENSG00000204262		0.358	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	60	0.00	0	C	NM_000393	Intron	189943788	189943788	-1	no_errors	ENST00000374866	ensembl	human	known	69_37n	splice_site	78	27.78	30	SNP	1.000	G
CYP11B1	1584	genome.wustl.edu	37	8	143961043	143961043	+	Missense_Mutation	SNP	C	C	G	rs5282		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr8:143961043C>G	ENST00000292427.4	-	1	219	c.187G>C	c.(187-189)Gac>Cac	p.D63H	CYP11B1_ENST00000517471.1_Missense_Mutation_p.D63H|CYP11B1_ENST00000377675.3_Missense_Mutation_p.D63H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	63			D -> H (in dbSNP:rs5282).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGTGCAGGTCCTCATAACCC	0.627									Familial Hyperaldosteronism type I																													dbGAP											0													81.0	72.0	75.0					8																	143961043		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.187G>C	8.37:g.143961043C>G	ENSP00000292427:p.Asp63His		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.D63H	ENST00000292427.4	37	c.187	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	c	4.022	0.001613	0.07819	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75477	-0.28;-0.28;-0.94	2.96	-1.67	0.08238	.	0.768080	0.10879	N	0.624050	T	0.50394	0.1613	N	0.13098	0.295	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.0;0.001;0.004	T	0.25222	-1.0138	10	0.30854	T	0.27	.	4.4568	0.11647	0.0:0.1305:0.425:0.4444	rs5282;rs5282	63;63;63	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	63	ENSP00000292427:D63H;ENSP00000428043:D63H;ENSP00000366903:D63H	ENSP00000292427:D63H	D	-	1	0	CYP11B1	143958045	0.000000	0.05858	0.005000	0.12908	0.719000	0.41307	-0.299000	0.08254	-0.461000	0.06993	-0.714000	0.03626	GAC	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	41	0.00	0	C			143961043	143961043	-1	no_errors	ENST00000292427	ensembl	human	known	69_37n	missense	5	75.00	15	SNP	0.067	G
DCST1	149095	genome.wustl.edu	37	1	155006974	155006974	+	Missense_Mutation	SNP	C	C	T	rs544612246		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr1:155006974C>T	ENST00000295542.1	+	3	221	c.125C>T	c.(124-126)cCg>cTg	p.P42L	DCST1_ENST00000423025.2_Missense_Mutation_p.P42L|DCST1_ENST00000392480.1_Missense_Mutation_p.P42L|DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Missense_Mutation_p.P42L|DCST2_ENST00000295536.5_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	42						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGCGCCAGCCGGGCGAGTTT	0.652																																						dbGAP											0													64.0	76.0	72.0					1																	155006974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.125C>T	1.37:g.155006974C>T	ENSP00000295542:p.Pro42Leu		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.P42L	ENST00000295542.1	37	c.125	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.273876	0.10403	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.27104	1.84;1.79;1.69;1.79	5.18	4.27	0.50696	.	0.694155	0.13632	N	0.373622	T	0.20901	0.0503	L	0.53249	1.67	0.45464	D	0.998431	P;D;P	0.76494	0.801;0.999;0.801	B;P;B	0.59595	0.137;0.86;0.137	T	0.13683	-1.0500	10	0.08837	T	0.75	-17.81	9.7175	0.40283	0.0:0.9035:0.0:0.0965	.	42;67;42	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	L	42	ENSP00000295542:P42L;ENSP00000376271:P42L;ENSP00000387369:P42L;ENSP00000357404:P42L	ENSP00000295542:P42L	P	+	2	0	DCST1	153273598	0.337000	0.24766	0.844000	0.33320	0.962000	0.63368	0.589000	0.23939	1.190000	0.43042	-0.140000	0.14226	CCG	DCST1	-	NULL	ENSG00000163357		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	70	0.00	0	C	NM_152494		155006974	155006974	+1	no_errors	ENST00000295542	ensembl	human	known	69_37n	missense	20	16.00	4	SNP	0.920	T
DNAJC28	54943	genome.wustl.edu	37	21	34860854	34860854	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr21:34860854T>C	ENST00000314399.3	-	2	1285	c.847A>G	c.(847-849)Aat>Gat	p.N283D	DNAJC28_ENST00000402202.1_Missense_Mutation_p.N283D|DNAJC28_ENST00000381947.3_Missense_Mutation_p.N283D	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	283										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GTCATTGGATTCCCAAGTTTT	0.343																																						dbGAP											0													139.0	140.0	140.0					21																	34860854		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.847A>G	21.37:g.34860854T>C	ENSP00000320303:p.Asn283Asp		D3DSF2	Missense_Mutation	SNP	pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.N283D	ENST00000314399.3	37	c.847	CCDS13626.1	21	.	.	.	.	.	.	.	.	.	.	T	5.128	0.209216	0.09757	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.58	4.37	0.52481	.	0.334067	0.35151	N	0.003417	T	0.15089	0.0364	N	0.05124	-0.11	0.26699	N	0.971202	B	0.10296	0.003	B	0.14578	0.011	T	0.17776	-1.0358	9	0.14656	T	0.56	-19.6427	6.4953	0.22138	0.0:0.1436:0.1528:0.7036	.	283	Q9NX36	DJC28_HUMAN	D	283	.	ENSP00000320303:N283D	N	-	1	0	DNAJC28	33782724	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	1.610000	0.36869	2.130000	0.65690	0.528000	0.53228	AAT	DNAJC28	-	NULL	ENSG00000177692		0.343	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC28	HGNC	protein_coding	OTTHUMT00000140454.3	140	0.00	0	T			34860854	34860854	-1	no_errors	ENST00000314399	ensembl	human	known	69_37n	missense	169	23.18	51	SNP	1.000	C
DYRK1B	9149	genome.wustl.edu	37	19	40319129	40319129	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr19:40319129G>C	ENST00000593685.1	-	6	1083	c.615C>G	c.(613-615)caC>caG	p.H205Q	DYRK1B_ENST00000323039.5_Missense_Mutation_p.H205Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.H205Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.H205Q|DYRK1B_ENST00000430012.2_Missense_Mutation_p.H205Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCCGCGGAAGTGGGTGTTGC	0.607																																						dbGAP											0													71.0	68.0	69.0					19																	40319129		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.615C>G	19.37:g.40319129G>C	ENSP00000469863:p.His205Gln		O75258|O75788|O75789	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H205Q	ENST00000593685.1	37	c.615	CCDS12543.1	19	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829506	0.50845	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.64260	-0.09;-0.09;-0.09	5.95	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054811	0.64402	D	0.000001	T	0.33440	0.0863	N	0.02403	-0.565	0.44736	D	0.99773	B;B;B	0.15141	0.01;0.012;0.01	B;B;B	0.24006	0.03;0.05;0.03	T	0.04078	-1.0979	10	0.21014	T	0.42	.	9.7643	0.40552	0.2262:0.0:0.7738:0.0	.	205;205;205	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Q	205	ENSP00000312789:H205Q;ENSP00000221803:H205Q;ENSP00000403182:H205Q	ENSP00000312789:H205Q	H	-	3	2	DYRK1B	45010969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.138000	0.58017	0.419000	0.25927	0.491000	0.48974	CAC	DYRK1B	-	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	ENSG00000105204		0.607	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2	285	0.00	0	G	NM_004714		40319129	40319129	-1	no_errors	ENST00000323039	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	C
DZIP1L	199221	genome.wustl.edu	37	3	137783433	137783433	+	Intron	SNP	G	G	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr3:137783433G>A	ENST00000327532.2	-	15	2505					NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like						cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GTTCTGTAGAGAATTCCAGAG	0.547																																						dbGAP											0													101.0	113.0	109.0					3																	137783433		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2142+36C>T	3.37:g.137783433G>A			C9JUG5|Q96M38	Missense_Mutation	SNP	NULL	p.S96F	ENST00000327532.2	37	c.287	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120092	0.08881	.	.	ENSG00000158163	ENST00000486487	.	.	.	3.4	-0.837	0.10766	.	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	.	0.6285	0.00790	0.2452:0.1871:0.3765:0.1913	.	.	.	.	F	96	.	.	S	-	2	0	DZIP1L	139266123	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.298000	0.08265	-0.193000	0.10415	-0.165000	0.13383	TCT	DZIP1L	-	NULL	ENSG00000158163		0.547	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	87	0.00	0	G	NM_173543		137783433	137783433	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486487	ensembl	human	putative	69_37n	missense	25	24.24	8	SNP	0.000	A
FAM154A	158297	genome.wustl.edu	37	9	18950827	18950827	+	Silent	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:18950827G>C	ENST00000380534.4	-	2	426	c.147C>G	c.(145-147)ccC>ccG	p.P49P	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Silent_p.P49P|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	49										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AGGACTCTCTGGGCAGGTAGG	0.463																																						dbGAP											0													196.0	182.0	187.0					9																	18950827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.147C>G	9.37:g.18950827G>C			Q5VY58	Silent	SNP	NULL	p.P49	ENST00000380534.4	37	c.147	CCDS6487.1	9																																																																																			FAM154A	-	NULL	ENSG00000155875		0.463	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	151	0.00	0	G	NM_153707		18950827	18950827	-1	no_errors	ENST00000380534	ensembl	human	known	69_37n	silent	280	38.96	180	SNP	1.000	C
SPATA31A1	647060	genome.wustl.edu	37	9	39361273	39361273	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:39361273T>C	ENST00000377647.3	+	4	3540	c.3511T>C	c.(3511-3513)Ttt>Ctt	p.F1171L		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1171					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGCAATTTTTTCAGTGGAT	0.438																																						dbGAP											0													1.0	1.0	1.0					9																	39361273		307	746	1053	-	-	-	SO:0001583	missense	0				CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 36"", ""family with sequence similarity 75, member A1"""	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3511T>C	9.37:g.39361273T>C	ENSP00000366875:p.Phe1171Leu			Missense_Mutation	SNP	NULL	p.F1171L	ENST00000377647.3	37	c.3511	CCDS43808.1	9	.	.	.	.	.	.	.	.	.	.	T	0.906	-0.720676	0.03182	.	.	ENSG00000204849	ENST00000377647	T	0.02974	4.09	1.95	-3.81	0.04294	.	0.778916	0.10911	N	0.620538	T	0.01287	0.0042	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46789	-0.9166	10	0.02654	T	1	-1.0241	4.1131	0.10068	0.0:0.4743:0.2136:0.3121	.	1171	Q5TZJ5	F75A1_HUMAN	L	1171	ENSP00000366875:F1171L	ENSP00000366875:F1171L	F	+	1	0	FAM75A1	39351273	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.920000	0.04013	-1.035000	0.03291	0.113000	0.15668	TTT	FAM75A1	-	NULL	ENSG00000204849		0.438	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A1	HGNC	protein_coding	OTTHUMT00000036910.1	18	0.00	0	T	NM_001085452		39361273	39361273	+1	no_errors	ENST00000377647	ensembl	human	known	69_37n	missense	25	43.18	19	SNP	0.000	C
SPATA31D5P	347127	genome.wustl.edu	37	9	84531548	84531548	+	RNA	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:84531548C>T	ENST00000527857.1	+	0	1570					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GGTCTCCCATCTTTGCACAGT	0.433																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531548C>T				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.433	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	48	0.00	0	C	NR_026851		84531548	84531548	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	105	49.03	101	SNP	0.000	T
FRG1B	284802	genome.wustl.edu	37	20	29625985	29625985	+	Splice_Site	SNP	G	G	A	rs79368216		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr20:29625985G>A	ENST00000278882.3	+	5	608		c.e5+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTTTCAAAATGTAAGTGCTGT	0.323																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.228+1G>A	20.37:g.29625985G>A			C4AME5	Splice_Site	SNP	-	e3+1	ENST00000278882.3	37	c.228+1		20	.	.	.	.	.	.	.	.	.	.	.	8.641	0.895912	0.17686	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28239646	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	6.364000	0.73086	1.250000	0.43966	0.184000	0.17185	.	FRG1B	-	-	ENSG00000149531		0.323	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	17	0.00	0	G	NR_003579	Intron	29625985	29625985	+1	no_errors	ENST00000278882	ensembl	human	known	69_37n	splice_site	157	20.30	40	SNP	1.000	A
GOLGA8B	440270	genome.wustl.edu	37	15	34823738	34823738	+	Missense_Mutation	SNP	G	G	A	rs200544945		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr15:34823738G>A	ENST00000342314.5	-	6	492	c.395C>T	c.(394-396)aCa>aTa	p.T132I	GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.T162I|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.T132I	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	132						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTTTTCTCTGTGTTCAATCT	0.443																																						dbGAP											0													1.0	1.0	1.0					15																	34823738		507	674	1181	-	-	-	SO:0001583	missense	0			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.395C>T	15.37:g.34823738G>A	ENSP00000343064:p.Thr132Ile		A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.T162I	ENST00000342314.5	37	c.485	CCDS45211.1	15	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.008965	0.00426	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.12255	2.7;2.7;2.7	1.42	1.42	0.22433	.	.	.	.	.	T	0.03390	0.0098	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44559	-0.9320	9	0.15952	T	0.53	.	3.5084	0.07699	0.7684:0.0:0.2316:0.0	.	132	A8MQT2	GOG8B_HUMAN	I	132;132;162;24	ENSP00000343064:T132I;ENSP00000267731:T132I;ENSP00000400063:T162I	ENSP00000267731:T132I	T	-	2	0	GOLGA8B	32611030	0.004000	0.15560	0.009000	0.14445	0.069000	0.16628	0.986000	0.29590	0.056000	0.16144	-1.958000	0.00481	ACA	GOLGA8B	-	NULL	ENSG00000215252		0.443	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	8	0.00	0	G	NM_001023567		34823738	34823738	-1	no_errors	ENST00000438958	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.008	A
GPRC6A	222545	genome.wustl.edu	37	6	117128090	117128090	+	Silent	SNP	G	G	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:117128090G>T	ENST00000310357.3	-	3	799	c.778C>A	c.(778-780)Cgg>Agg	p.R260R	GPRC6A_ENST00000368549.3_Silent_p.R260R|GPRC6A_ENST00000530250.1_Silent_p.R260R	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	260					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R260W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTCAGTGTCCGATTGATTCTG	0.363																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											90.0	94.0	93.0					6																	117128090		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.778C>A	6.37:g.117128090G>T			Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.R260	ENST00000310357.3	37	c.778	CCDS5112.1	6																																																																																			GPRC6A	-	pfam_ANF_lig-bd_rcpt	ENSG00000173612		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	299	0.00	0	G			117128090	117128090	-1	no_errors	ENST00000310357	ensembl	human	known	69_37n	silent	279	18.66	64	SNP	0.988	T
GTSE1	51512	genome.wustl.edu	37	22	46704300	46704300	+	Frame_Shift_Del	DEL	G	G	-	rs147042849		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr22:46704300delG	ENST00000454366.1	+	4	434	c.222delG	c.(220-222)ccgfs	p.P74fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	55					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TAAATAATCCGGTTCCCGAAC	0.463																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											0													105.0	114.0	111.0					22																	46704300		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.222delG	22.37:g.46704300delG	ENSP00000415430:p.Pro74fs		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	NULL	p.V75fs	ENST00000454366.1	37	c.222	CCDS14074.2	22																																																																																			GTSE1	-	NULL	ENSG00000075218		0.463	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	34	0.00	0	G	NM_016426		46704300	46704300	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	frame_shift_del	12	69.77	30	DEL	0.000	-
IARS2	55699	genome.wustl.edu	37	1	220316439	220316439	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr1:220316439C>A	ENST00000302637.5	+	21	2818	c.2714C>A	c.(2713-2715)aCt>aAt	p.T905N	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Missense_Mutation_p.T833N	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	905					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAGGTTATCACTGTGATAGAA	0.438																																						dbGAP											0													133.0	125.0	128.0					1																	220316439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2714C>A	1.37:g.220316439C>A	ENSP00000303279:p.Thr905Asn		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.T905N	ENST00000302637.5	37	c.2714	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.985009	0.53934	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.11385	2.78;2.78	5.92	5.92	0.95590	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.052694	0.85682	D	0.000000	T	0.08133	0.0203	L	0.27053	0.805	0.19945	N	0.999942	B	0.21821	0.061	B	0.14023	0.01	T	0.36114	-0.9761	10	0.15499	T	0.54	-13.0621	12.141	0.53998	0.0:0.0666:0.0:0.9334	.	905	Q9NSE4	SYIM_HUMAN	N	833;905	ENSP00000355889:T833N;ENSP00000303279:T905N	ENSP00000303279:T905N	T	+	2	0	IARS2	218383062	0.938000	0.31826	0.047000	0.18901	0.647000	0.38526	6.105000	0.71505	1.071000	0.40834	-0.254000	0.11334	ACT	IARS2	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000067704		0.438	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		186	0.00	0	C	NM_018060		220316439	220316439	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	missense	242	10.37	28	SNP	0.994	A
IGLV2-8	28817	genome.wustl.edu	37	22	23165351	23165351	+	RNA	SNP	C	C	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr22:23165351C>G	ENST00000390317.2	+	0	199				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CCTCCTCACTCAGGGCACAGG	0.667																																						dbGAP											0													17.0	20.0	19.0					22																	23165351		1563	3571	5134	-	-	-			0			X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165351C>G				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q13E	ENST00000390317.2	37	c.37		22																																																																																			IGLV2-8	-	NULL	ENSG00000211671		0.667	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV2-8	HGNC	IG_V_gene	OTTHUMT00000321845.1	53	0.00	0	C	NG_000002		23165351	23165351	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390317	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.013	G
IL22RA2	116379	genome.wustl.edu	37	6	137466808	137466808	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:137466808C>A	ENST00000296980.2	-	7	1045	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	IL22RA2_ENST00000339602.3_3'UTR|IL22RA2_ENST00000349184.4_Missense_Mutation_p.D217Y	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	249	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTTCTTCTGTCTAACATGGGC	0.433																																						dbGAP											0													116.0	113.0	114.0					6																	137466808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.745G>T	6.37:g.137466808C>A	ENSP00000296980:p.Asp249Tyr		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.D249Y	ENST00000296980.2	37	c.745	CCDS5182.1	6	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303118	0.60195	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	T;T	0.46451	0.87;0.87	5.87	4.05	0.47172	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.347071	0.30869	N	0.008707	T	0.45637	0.1352	M	0.65975	2.015	0.42947	D	0.994363	D;D	0.89917	0.995;1.0	D;D	0.77557	0.919;0.99	T	0.40961	-0.9535	10	0.23302	T	0.38	.	9.7885	0.40690	0.0:0.8319:0.0:0.1681	.	217;249	Q969J5-2;Q969J5	.;I22R2_HUMAN	Y	217;249	ENSP00000296979:D217Y;ENSP00000296980:D249Y	ENSP00000296980:D249Y	D	-	1	0	IL22RA2	137508501	0.646000	0.27295	0.718000	0.30602	0.890000	0.51754	0.904000	0.28491	1.602000	0.50124	0.655000	0.94253	GAC	IL22RA2	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000164485		0.433	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	IL22RA2	HGNC	protein_coding	OTTHUMT00000042399.1	250	0.00	0	C			137466808	137466808	-1	no_errors	ENST00000296980	ensembl	human	known	69_37n	missense	361	16.97	74	SNP	0.603	A
IFNLR1	163702	genome.wustl.edu	37	1	24488039	24488039	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr1:24488039delC	ENST00000327535.1	-	4	515	c.503delG	c.(502-504)ggafs	p.G168fs	IFNLR1_ENST00000374421.3_Frame_Shift_Del_p.G168fs|IFNLR1_ENST00000374418.3_Frame_Shift_Del_p.G168fs|IFNLR1_ENST00000374419.1_Frame_Shift_Del_p.G85fs|IFNLR1_ENST00000327575.2_Frame_Shift_Del_p.G168fs	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	168					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CACCTTGTTTCCGGCCCCCTC	0.622																																						dbGAP											0													23.0	24.0	24.0					1																	24488039		2152	4218	6370	-	-	-	SO:0001589	frameshift_variant	0			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.503delG	1.37:g.24488039delC	ENSP00000327824:p.Gly168fs		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Frame_Shift_Del	DEL	superfamily_Fibronectin_type3	p.G168fs	ENST00000327535.1	37	c.503	CCDS248.1	1																																																																																			IL28RA	-	superfamily_Fibronectin_type3	ENSG00000185436		0.622	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	101	0.00	0	C	NM_170743		24488039	24488039	-1	no_errors	ENST00000327535	ensembl	human	known	69_37n	frame_shift_del	28	26.83	11	DEL	0.001	-
ITGAX	3687	genome.wustl.edu	37	16	31382656	31382656	+	Splice_Site	SNP	A	A	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr16:31382656A>G	ENST00000268296.4	+	16	1964	c.1843A>G	c.(1843-1845)Acc>Gcc	p.T615A	ITGAX_ENST00000562522.1_Splice_Site_p.T615A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	615					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGCCCGCAGGACCAGACCTGT	0.652																																						dbGAP											0													44.0	38.0	40.0					16																	31382656		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1842-1A>G	16.37:g.31382656A>G			Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.T615A	ENST00000268296.4	37	c.1843	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	A	9.071	0.996921	0.19043	.	.	ENSG00000140678	ENST00000268296	T	0.36157	1.27	5.24	4.07	0.47477	Integrin alpha-2 (1);	.	.	.	.	T	0.25754	0.0627	N	0.24115	0.695	0.80722	D	1	B	0.26318	0.146	B	0.33690	0.168	T	0.08493	-1.0719	9	0.37606	T	0.19	.	7.922	0.29852	0.817:0.0:0.0:0.183	.	615	P20702	ITAX_HUMAN	A	615	ENSP00000268296:T615A	ENSP00000268296:T615A	T	+	1	0	ITGAX	31290157	0.999000	0.42202	0.984000	0.44739	0.061000	0.15899	1.357000	0.34090	2.087000	0.62958	0.533000	0.62120	ACC	ITGAX	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000140678		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	52	0.00	0	A	NM_000887	Missense_Mutation	31382656	31382656	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.982	G
ITGB8	3696	genome.wustl.edu	37	7	20431066	20431066	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr7:20431066A>G	ENST00000222573.4	+	7	1685	c.1001A>G	c.(1000-1002)gAc>gGc	p.D334G	ITGB8_ENST00000537992.1_Missense_Mutation_p.D199G	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	334	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAATTAATAGACAACAACATT	0.294																																						dbGAP											0													80.0	78.0	79.0					7																	20431066		2203	4287	6490	-	-	-	SO:0001583	missense	0				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1001A>G	7.37:g.20431066A>G	ENSP00000222573:p.Asp334Gly		A4D133|B4DHD4	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.D334G	ENST00000222573.4	37	c.1001	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887770	0.72410	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97850	-4.57;-4.57	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.072669	0.56097	D	0.000025	D	0.97711	0.9249	L	0.53561	1.675	0.58432	D	0.999992	B;P	0.52170	0.379;0.951	B;P	0.56216	0.227;0.794	D	0.98556	1.0639	10	0.87932	D	0	.	16.0858	0.81049	1.0:0.0:0.0:0.0	.	334;334	P26012;Q9BUG9	ITB8_HUMAN;.	G	199;334	ENSP00000441561:D199G;ENSP00000222573:D334G	ENSP00000222573:D334G	D	+	2	0	ITGB8	20397591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.264000	0.75181	0.533000	0.62120	GAC	ITGB8	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000105855		0.294	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	189	0.00	0	A	NM_002214		20431066	20431066	+1	no_errors	ENST00000222573	ensembl	human	known	69_37n	missense	133	50.73	139	SNP	1.000	G
ITPR1	3708	genome.wustl.edu	37	3	4699915	4699915	+	Silent	SNP	C	C	T	rs552561627		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr3:4699915C>T	ENST00000443694.2	+	10	1059	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ITPR1_ENST00000357086.4_Silent_p.F368F|ITPR1_ENST00000423119.2_Silent_p.F368F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.F368F|ITPR1_ENST00000302640.8_Silent_p.F353F|ITPR1_ENST00000456211.2_Silent_p.F353F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	368	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	CCTCCATTTTCGAGCTAGATC	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		21274	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													126.0	126.0	126.0					3																	4699915		1983	4164	6147	-	-	-	SO:0001819	synonymous_variant	0			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		ENST00000443694.2:c.1059C>T	3.37:g.4699915C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F353	ENST00000443694.2	37	c.1059	CCDS54551.1	3																																																																																			ITPR1	-	pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000150995		0.507	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	269	0.00	0	C	NM_002222		4699915	4699915	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	silent	53	88.40	419	SNP	1.000	T
LAMA2	3908	genome.wustl.edu	37	6	129468133	129468133	+	Silent	SNP	T	T	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:129468133T>A	ENST00000421865.2	+	6	898	c.849T>A	c.(847-849)gtT>gtA	p.V283V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	283	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATTTCAGTTGGAGGGATGT	0.423																																						dbGAP											0													227.0	209.0	215.0					6																	129468133		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.849T>A	6.37:g.129468133T>A			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V283	ENST00000421865.2	37	c.849	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000196569		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	158	0.00	0	T			129468133	129468133	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	silent	87	48.52	82	SNP	0.637	A
LPIN2	9663	genome.wustl.edu	37	18	2937724	2937724	+	Silent	SNP	C	C	G	rs543890845	byFrequency	TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr18:2937724C>G	ENST00000261596.4	-	7	1372	c.1134G>C	c.(1132-1134)ccG>ccC	p.P378P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	378					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTTAGCTGCCGGTTTGGATT	0.448																																						dbGAP											0													58.0	60.0	59.0					18																	2937724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1134G>C	18.37:g.2937724C>G			A7MD25|D3DUH3	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.P378	ENST00000261596.4	37	c.1134	CCDS11829.1	18																																																																																			LPIN2	-	NULL	ENSG00000101577		0.448	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	114	0.87	1	C	NM_014646		2937724	2937724	-1	no_errors	ENST00000261596	ensembl	human	known	69_37n	silent	33	45.90	28	SNP	0.741	G
MPEG1	219972	genome.wustl.edu	37	11	58978653	58978653	+	Silent	SNP	G	G	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr11:58978653G>A	ENST00000361050.3	-	1	1771	c.1686C>T	c.(1684-1686)agC>agT	p.S562S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	562						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGGGTGCTGGCTGAAGCCCC	0.592																																						dbGAP											0													52.0	58.0	56.0					11																	58978653		1905	4122	6027	-	-	-	SO:0001819	synonymous_variant	0			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1686C>T	11.37:g.58978653G>A			Q2M1T6|Q8TEF8	Silent	SNP	pfam_MACPF,smart_MACPF	p.S562	ENST00000361050.3	37	c.1686	CCDS41650.1	11																																																																																			MPEG1	-	NULL	ENSG00000197629		0.592	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	75	0.00	0	G	NM_001039396		58978653	58978653	-1	no_errors	ENST00000361050	ensembl	human	known	69_37n	silent	25	21.88	7	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78594278	78594278	+	Silent	SNP	C	C	A	rs377644895		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr12:78594278C>A	ENST00000397909.2	+	38	6914	c.6741C>A	c.(6739-6741)ccC>ccA	p.P2247P	NAV3_ENST00000536525.2_Silent_p.P2225P|NAV3_ENST00000266692.7_Silent_p.P2048P|NAV3_ENST00000228327.6_Silent_p.P2225P|NAV3_ENST00000541270.1_Silent_p.P77P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2247						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCCTTGCCCCATGGATGTAG	0.358										HNSCC(70;0.22)																												dbGAP											0													122.0	107.0	111.0					12																	78594278		1818	4070	5888	-	-	-	SO:0001819	synonymous_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6741C>A	12.37:g.78594278C>A			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.H1120N	ENST00000397909.2	37	c.3358		12	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893195	0.17613	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.16	-1.76	0.08006	.	.	.	.	.	T	0.49932	0.1586	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	-15.8844	5.6856	0.17801	0.2109:0.2833:0.0:0.5058	.	.	.	.	N	1120;115	.	.	H	+	1	0	NAV3	77118409	0.013000	0.17824	0.994000	0.49952	0.998000	0.95712	-1.015000	0.03637	-0.213000	0.10094	0.563000	0.77884	CAT	NAV3	-	NULL	ENSG00000067798		0.358	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	119	0.00	0	C	NM_001024383		78594278	78594278	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000552895	ensembl	human	novel	69_37n	missense	220	38.38	137	SNP	0.247	A
NWD1	284434	genome.wustl.edu	37	19	16870120	16870120	+	Silent	SNP	G	G	A	rs145131372		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr19:16870120G>A	ENST00000552788.1	+	5	1854	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	NWD1_ENST00000339803.6_Silent_p.P483P|NWD1_ENST00000549814.1_Silent_p.P618P|NWD1_ENST00000379808.3_Silent_p.P618P|NWD1_ENST00000524140.2_Silent_p.P618P|NWD1_ENST00000523826.1_Silent_p.P412P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	618	NACHT.						ATP binding (GO:0005524)	p.P483P(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTGGACCCCGCCCAGCAAGG	0.647																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											79.0	59.0	66.0					19																	16870120		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1854G>A	19.37:g.16870120G>A			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P618	ENST00000552788.1	37	c.1854		19																																																																																			NWD1	-	NULL	ENSG00000188039		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	83	0.00	0	G	NM_001007525		16870120	16870120	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	silent	14	46.15	12	SNP	0.206	A
OR5H6	79295	genome.wustl.edu	37	3	97984086	97984086	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr3:97984086A>G	ENST00000383696.2	+	1	999	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTCACAAAAATGTTCAAAAG	0.348																																						dbGAP											0													51.0	51.0	51.0					3																	97984086		2169	4275	6444	-	-	-	SO:0001583	missense	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.958A>G	3.37:g.97984086A>G	ENSP00000373196:p.Met320Val		Q6IF88	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M320V	ENST00000383696.2	37	c.958	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	0	-2.661276	0.00107	.	.	ENSG00000230301	ENST00000383696	T	0.36157	1.27	2.19	0.841	0.18918	.	2.077220	0.02099	N	0.053772	T	0.13200	0.0320	N	0.02296	-0.605	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.07482	T	0.82	.	1.8358	0.03139	0.5239:0.0:0.1785:0.2976	.	320	Q8NGV6	OR5H6_HUMAN	V	320	ENSP00000373196:M320V	ENSP00000373196:M320V	M	+	1	0	OR5H6	99466776	0.000000	0.05858	0.227000	0.23927	0.053000	0.15095	-1.538000	0.02204	0.064000	0.16427	0.163000	0.16589	ATG	OR5H6	-	NULL	ENSG00000230301		0.348	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	42	0.00	0	A			97984086	97984086	+1	no_errors	ENST00000383696	ensembl	human	known	69_37n	missense	150	14.69	26	SNP	0.126	G
OR6T1	219874	genome.wustl.edu	37	11	123814411	123814411	+	Silent	SNP	A	A	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr11:123814411A>T	ENST00000321252.2	-	1	169	c.135T>A	c.(133-135)atT>atA	p.I45I		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGCACAATAATTAGCAGCT	0.493																																						dbGAP											0													128.0	121.0	123.0					11																	123814411		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.135T>A	11.37:g.123814411A>T			Q6IFE7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I45	ENST00000321252.2	37	c.135	CCDS31700.1	11																																																																																			OR6T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181499		0.493	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	101	0.00	0	A	NM_001005187		123814411	123814411	-1	no_errors	ENST00000321252	ensembl	human	known	69_37n	silent	34	59.52	50	SNP	0.035	T
PGM5P2	595135	genome.wustl.edu	37	9	69112951	69112951	+	RNA	SNP	G	G	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:69112951G>T	ENST00000591037.1	-	0	1100					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		GGAGTCAGAAGGGCTCACAAA	0.507																																						dbGAP											0																																										-	-	-			0			BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69112951G>T				RNA	SNP	-	NULL	ENST00000591037.1	37	NULL		9																																																																																			PGM5P2	-	-	ENSG00000227558		0.507	PGM5P2-002	KNOWN	basic	processed_transcript	PGM5P2	HGNC	pseudogene	OTTHUMT00000460890.1	129	0.00	0	G	NR_002836		69112951	69112951	-1	no_errors	ENST00000591037	ensembl	human	known	69_37n	rna	122	12.86	18	SNP	1.000	T
PHYH	5264	genome.wustl.edu	37	10	13325816	13325816	+	Silent	SNP	G	G	A	rs547226475		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr10:13325816G>A	ENST00000263038.4	-	7	760	c.702C>T	c.(700-702)caC>caT	p.H234H	PHYH_ENST00000396920.3_Silent_p.H217H|PHYH_ENST00000396913.2_Silent_p.H134H	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	234					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CCTGGATCCCGTGGAACATTT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15101	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													254.0	264.0	261.0					10																	13325816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.702C>T	10.37:g.13325816G>A			A8MTS8|B1ALH5	Silent	SNP	pfam_Phytyl_CoA_dOase	p.H234	ENST00000263038.4	37	c.702	CCDS7097.1	10																																																																																			PHYH	-	pfam_Phytyl_CoA_dOase	ENSG00000107537		0.478	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	168	0.00	0	G			13325816	13325816	-1	no_errors	ENST00000263038	ensembl	human	known	69_37n	silent	155	38.25	96	SNP	0.987	A
PKHD1L1	93035	genome.wustl.edu	37	8	110503326	110503326	+	Silent	SNP	G	G	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr8:110503326G>A	ENST00000378402.5	+	61	10214	c.10110G>A	c.(10108-10110)ggG>ggA	p.G3370G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3370					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACAGTGGGGGAAGGTAATA	0.398										HNSCC(38;0.096)																												dbGAP											0													119.0	115.0	116.0					8																	110503326		1860	4103	5963	-	-	-	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10110G>A	8.37:g.110503326G>A			Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3370	ENST00000378402.5	37	c.10110	CCDS47911.1	8																																																																																			PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000205038		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	56	0.00	0	G	NM_177531		110503326	110503326	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	silent	113	21.09	31	SNP	0.994	A
PLA1A	51365	genome.wustl.edu	37	3	119336879	119336879	+	Silent	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr3:119336879G>C	ENST00000273371.4	+	7	840	c.768G>C	c.(766-768)ctG>ctC	p.L256L	PLA1A_ENST00000495992.1_Silent_p.L240L|PLA1A_ENST00000488919.1_Silent_p.L83L|PLA1A_ENST00000494440.1_Silent_p.L240L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	256					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATAGTTATCTGATCTGTGATC	0.428																																						dbGAP											0													202.0	203.0	203.0					3																	119336879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.768G>C	3.37:g.119336879G>C			B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L256	ENST00000273371.4	37	c.768	CCDS2991.1	3																																																																																			PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000144837		0.428	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	284	0.00	0	G			119336879	119336879	+1	no_errors	ENST00000273371	ensembl	human	known	69_37n	silent	79	56.11	101	SNP	1.000	C
PLCB1	23236	genome.wustl.edu	37	20	8637898	8637898	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr20:8637898C>A	ENST00000338037.6	+	8	689	c.662C>A	c.(661-663)cCt>cAt	p.P221H	PLCB1_ENST00000378641.3_Missense_Mutation_p.P221H|PLCB1_ENST00000378637.2_Missense_Mutation_p.P221H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	221				P -> L (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACCTTTGCCCTCGACCTGAA	0.388																																						dbGAP											0													130.0	128.0	129.0					20																	8637898		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.662C>A	20.37:g.8637898C>A	ENSP00000338185:p.Pro221His		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P221H	ENST00000338037.6	37	c.662	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892167	0.52014	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.46063	0.88;0.88;0.88	5.51	5.51	0.81932	EF-hand-like domain (1);	0.150938	0.64402	D	0.000011	T	0.66036	0.2749	M	0.76170	2.325	0.54753	D	0.999987	P;D	0.76494	0.9;0.999	P;D	0.66716	0.593;0.946	T	0.67872	-0.5558	10	0.66056	D	0.02	.	19.7826	0.96422	0.0:1.0:0.0:0.0	.	221;221	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	221;221;221;141;141	ENSP00000367908:P221H;ENSP00000338185:P221H;ENSP00000367904:P221H	ENSP00000338185:P221H	P	+	2	0	PLCB1	8585898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.796000	0.62496	2.735000	0.93741	0.650000	0.86243	CCT	PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.388	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	138	0.72	1	C			8637898	8637898	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	131	33.84	67	SNP	1.000	A
POLN	353497	genome.wustl.edu	37	4	2087377	2087377	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr4:2087377G>C	ENST00000511885.2	-	21	2513	c.2160C>G	c.(2158-2160)gaC>gaG	p.D720E	POLN_ENST00000382865.1_Missense_Mutation_p.D720E			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	720					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCGGGCGAAGTCCTTGATTT	0.557								DNA polymerases (catalytic subunits)																														dbGAP											0													87.0	86.0	86.0					4																	2087377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2160C>G	4.37:g.2087377G>C	ENSP00000435506:p.Asp720Glu		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.D720E	ENST00000511885.2	37	c.2160	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.324|6.324	0.427851|0.427851	0.11987|0.11987	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.20881|.	2.04;2.04|.	4.4|4.4	4.4|4.4	0.53042|0.53042	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.152547|.	0.47455|.	D|.	0.000236|.	T|T	0.29588|0.29588	0.0738|0.0738	N|N	0.12527|0.12527	0.23|0.23	0.31354|0.31354	N|N	0.68222|0.68222	B;B;B|.	0.26147|.	0.018;0.143;0.071|.	B;B;B|.	0.27262|.	0.03;0.078;0.055|.	T|T	0.22556|0.22556	-1.0213|-1.0213	10|5	0.06625|.	T|.	0.88|.	-21.6435|-21.6435	12.6905|12.6905	0.56972|0.56972	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	251;411;720|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	E|S	720;720;411;251|353	ENSP00000435506:D720E;ENSP00000372316:D720E|.	ENSP00000253313:D411E|.	D|T	-|-	3|2	2|0	POLN|POLN	2057175|2057175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	0.830000|0.830000	0.27462|0.27462	2.422000|2.422000	0.82143|0.82143	0.650000|0.650000	0.86243|0.86243	GAC|ACT	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	ENSG00000130997		0.557	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	59	0.00	0	G	NM_181808		2087377	2087377	-1	no_errors	ENST00000382865	ensembl	human	known	69_37n	missense	16	34.62	9	SNP	1.000	C
PTGS1	5742	genome.wustl.edu	37	9	125148912	125148912	+	Missense_Mutation	SNP	G	G	C	rs561283751		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:125148912G>C	ENST00000362012.2	+	9	1202	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	PTGS1_ENST00000373698.5_Missense_Mutation_p.Q290H|AL162424.1_ENST00000600713.1_Missense_Mutation_p.P6R|PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000540753.1_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	399					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGGCTCCCAGGAGTACAGCT	0.572																																						dbGAP											0													160.0	141.0	147.0					9																	125148912		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1197G>C	9.37:g.125148912G>C	ENSP00000354612:p.Gln399His		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q399H	ENST00000362012.2	37	c.1197	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833570	0.16820	.	.	ENSG00000095303	ENST00000362012;ENST00000373698	T;T	0.10099	2.91;2.91	5.17	-0.558	0.11796	.	0.448888	0.25657	N	0.029167	T	0.08313	0.0207	L	0.48877	1.53	0.21355	N	0.999714	B	0.06786	0.001	B	0.06405	0.002	T	0.25779	-1.0122	10	0.36615	T	0.2	-5.4855	6.3668	0.21459	0.4413:0.0:0.4429:0.1159	.	399	P23219	PGH1_HUMAN	H	399;290	ENSP00000354612:Q399H;ENSP00000362802:Q290H	ENSP00000354612:Q399H	Q	+	3	2	PTGS1	124188733	0.000000	0.05858	0.836000	0.33094	0.968000	0.65278	-1.080000	0.03407	-0.352000	0.08237	-0.150000	0.13652	CAG	PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.572	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	144	0.00	0	G			125148912	125148912	+1	no_errors	ENST00000362012	ensembl	human	known	69_37n	missense	53	10.00	6	SNP	0.043	C
SLC4A10	57282	genome.wustl.edu	37	2	162804110	162804110	+	Missense_Mutation	SNP	G	G	C	rs148092998		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr2:162804110G>C	ENST00000446997.1	+	17	2231	c.2138G>C	c.(2137-2139)cGg>cCg	p.R713P	SLC4A10_ENST00000421911.1_Missense_Mutation_p.R713P|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R683P|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R694P|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R683P	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	713					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TATGTTGGACGGGCCTGTGGC	0.443																																						dbGAP											0													150.0	144.0	146.0					2																	162804110		1933	4118	6051	-	-	-	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2138G>C	2.37:g.162804110G>C	ENSP00000393066:p.Arg713Pro		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R713P	ENST00000446997.1	37	c.2138	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766369	0.31228	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.62	4.73	0.59995	Bicarbonate transporter, C-terminal (1);	0.165059	0.52532	N	0.000077	T	0.47060	0.1425	N	0.00403	-1.54	0.36851	D	0.887894	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12837	0.004;0.004;0.008	T	0.50233	-0.8852	10	0.15952	T	0.53	.	16.3344	0.83052	0.0:0.1324:0.8676:0.0	.	694;683;713	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	P	694;683;683;682;713;713;712	ENSP00000364664:R694P;ENSP00000395797:R683P;ENSP00000272716:R683P;ENSP00000393066:R713P;ENSP00000404486:R713P	ENSP00000272716:R683P	R	+	2	0	SLC4A10	162512356	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.992000	0.40737	1.337000	0.45525	0.563000	0.77884	CGG	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.443	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	168	0.00	0	G	NM_022058		162804110	162804110	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	missense	171	22.97	51	SNP	1.000	C
SLC4A2	6522	genome.wustl.edu	37	7	150767276	150767276	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr7:150767276G>C	ENST00000485713.1	+	10	2332	c.1292G>C	c.(1291-1293)aGt>aCt	p.S431T	SLC4A2_ENST00000461735.1_Missense_Mutation_p.S417T|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S349T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S422T|SLC4A2_ENST00000413384.2_Missense_Mutation_p.S431T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	431					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCACCCAAGTGATGAGAAG	0.637																																						dbGAP											0													88.0	84.0	85.0					7																	150767276		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1292G>C	7.37:g.150767276G>C	ENSP00000419412:p.Ser431Thr		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.S431T	ENST00000485713.1	37	c.1292	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	g	15.77	2.931132	0.52866	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	4.54	4.54	0.55810	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	N	0.25060	0.705	0.50813	D	0.999891	P;P;P	0.50369	0.591;0.865;0.934	B;P;P	0.50192	0.399;0.501;0.634	T	0.80870	-0.1189	10	0.62326	D	0.03	.	16.4452	0.83925	0.0:0.0:1.0:0.0	.	422;417;431	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	T	431;431;349;422;417	ENSP00000419412:S431T;ENSP00000405600:S431T;ENSP00000311402:S349T;ENSP00000376571:S422T;ENSP00000419164:S417T	ENSP00000311402:S349T	S	+	2	0	SLC4A2	150398209	0.986000	0.35501	0.766000	0.31476	0.651000	0.38670	1.947000	0.40293	2.528000	0.85240	0.550000	0.68814	AGT	SLC4A2	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	56	0.00	0	G	NM_003040		150767276	150767276	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	1.000	C
SMC5	23137	genome.wustl.edu	37	9	72959102	72959102	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:72959102C>G	ENST00000361138.5	+	18	2498	c.2440C>G	c.(2440-2442)Cag>Gag	p.Q814E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	814					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAGATTATTGCAGAAATGCAA	0.318																																						dbGAP											0													58.0	51.0	54.0					9																	72959102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2440C>G	9.37:g.72959102C>G	ENSP00000354957:p.Gln814Glu		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC	p.Q814E	ENST00000361138.5	37	c.2440	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	C	4.523	0.097073	0.08681	.	.	ENSG00000198887	ENST00000361138	T	0.16073	2.37	5.6	4.68	0.58851	RecF/RecN/SMC (1);	0.190394	0.44285	D	0.000462	T	0.02807	0.0084	N	0.00092	-2.175	0.31194	N	0.700612	B	0.12630	0.006	B	0.10450	0.005	T	0.22800	-1.0206	10	0.02654	T	1	-13.7799	11.5033	0.50450	0.0:0.7168:0.2832:0.0	.	814	Q8IY18	SMC5_HUMAN	E	814	ENSP00000354957:Q814E	ENSP00000354957:Q814E	Q	+	1	0	SMC5	72148922	0.998000	0.40836	0.998000	0.56505	0.982000	0.71751	1.672000	0.37523	2.636000	0.89361	0.655000	0.94253	CAG	SMC5	-	pfam_RecF/RecN/SMC	ENSG00000198887		0.318	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	267	0.00	0	C	NM_015110		72959102	72959102	+1	no_errors	ENST00000361138	ensembl	human	known	69_37n	missense	66	22.35	19	SNP	0.995	G
RPS12	6206	genome.wustl.edu	37	6	133137948	133137950	+	Intron	DEL	ATG	ATG	-	rs375782498		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:133137948_133137950delATG	ENST00000230050.3	+	5	444				SNORD100_ENST00000408573.1_RNA|SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AGTGCTGTACATGATGACAACTG	0.404																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.235-149ATG>-	6.37:g.133137951_133137953delATG			Q76M58	RNA	DEL	-	NULL	ENST00000230050.3	37	NULL	CCDS5164.1	6																																																																																			SNORD100	-	-	ENSG00000221500		0.404	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD100	HGNC	protein_coding	OTTHUMT00000042270.2	22	0.00	0	ATG	NM_001016		133137948	133137950	+1	no_errors	ENST00000408573	ensembl	human	known	69_37n	rna	35	20.00	9	DEL	0.999:1.000:1.000	-
SORCS1	114815	genome.wustl.edu	37	10	108367018	108367018	+	Missense_Mutation	SNP	A	A	T	rs147930213		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr10:108367018A>T	ENST00000263054.6	-	23	3078	c.3071T>A	c.(3070-3072)gTg>gAg	p.V1024E	SORCS1_ENST00000369698.1_Missense_Mutation_p.V559E|SORCS1_ENST00000344440.6_Missense_Mutation_p.V1024E|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1024					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCCAGGGAGCACCGCCACCAG	0.557																																						dbGAP											0													71.0	68.0	69.0					10																	108367018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3071T>A	10.37:g.108367018A>T	ENSP00000263054:p.Val1024Glu		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V1024E	ENST00000263054.6	37	c.3071	CCDS7559.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.125551|4.125551	0.77436|0.77436	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000452214|ENST00000369698;ENST00000263054;ENST00000344440	.|T;T;T	.|0.35789	.|1.29;1.82;1.78	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62024|0.62024	0.2394|0.2394	M|M	0.79926|0.79926	2.475|2.475	0.52099|0.52099	D|D	0.999948|0.999948	.|D;D;D;D;D	.|0.69078	.|0.99;0.997;0.982;0.995;0.982	.|P;D;P;D;P	.|0.69479	.|0.811;0.964;0.907;0.922;0.907	T|T	0.64711|0.64711	-0.6343|-0.6343	5|9	.|.	.|.	.|.	-23.0169|-23.0169	16.0262|16.0262	0.80548|0.80548	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1024;1024;1024;1024;1024	.|A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.|.;.;.;SORC1_HUMAN;.	S|E	39|559;1024;1024	.|ENSP00000358712:V559E;ENSP00000263054:V1024E;ENSP00000345964:V1024E	.|.	C|V	-|-	1|2	0|0	SORCS1|SORCS1	108357008|108357008	0.991000|0.991000	0.36638|0.36638	0.969000|0.969000	0.41365|0.41365	0.671000|0.671000	0.39405|0.39405	7.999000|7.999000	0.88496|0.88496	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TGC|GTG	SORCS1	-	NULL	ENSG00000108018		0.557	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	103	0.00	0	A	NM_052918		108367018	108367018	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.998	T
SPANXN4	441525	genome.wustl.edu	37	X	142121829	142121829	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chrX:142121829A>G	ENST00000446864.1	+	2	194	c.97A>G	c.(97-99)Aga>Gga	p.R33G	SPANXN4_ENST00000370504.3_Missense_Mutation_p.R32G	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	33										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAATCTGCACAGAGCCTCAGC	0.388																																						dbGAP											0													31.0	27.0	29.0					X																	142121829		1865	4063	5928	-	-	-	SO:0001583	missense	0			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.97A>G	X.37:g.142121829A>G	ENSP00000405210:p.Arg33Gly		Q0ZNK6|Q5W0S6	Missense_Mutation	SNP	pfam_SPANX_prot	p.R33G	ENST00000446864.1	37	c.97	CCDS48178.1	X	.	.	.	.	.	.	.	.	.	.	A	8.105	0.777473	0.16120	.	.	ENSG00000189326	ENST00000446864;ENST00000370504	T;T	0.07114	3.22;3.22	0.775	-1.35	0.09114	.	.	.	.	.	T	0.04048	0.0113	.	.	.	0.09310	N	1	P	0.42357	0.777	B	0.35770	0.21	T	0.40590	-0.9555	7	0.22706	T	0.39	.	.	.	.	.	33	Q5MJ08	SPXN4_HUMAN	G	33;32	ENSP00000405210:R33G;ENSP00000359535:R32G	ENSP00000359535:R32G	R	+	1	2	SPANXN4	141949495	0.001000	0.12720	0.000000	0.03702	0.190000	0.23558	0.555000	0.23422	-0.437000	0.07243	0.158000	0.16466	AGA	SPANXN4	-	pfam_SPANX_prot	ENSG00000189326		0.388	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN4	HGNC	protein_coding	OTTHUMT00000377539.1	654	0.00	0	A	NM_001009613		142121829	142121829	+1	no_errors	ENST00000446864	ensembl	human	known	69_37n	missense	726	37.32	434	SNP	0.000	G
TAS2R43	259289	genome.wustl.edu	37	12	11244067	11244068	+	Frame_Shift_Ins	INS	-	-	TT	rs201300744	byFrequency	TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr12:11244067_11244068insTT	ENST00000531678.1	-	1	844_845	c.761_762insAA	c.(760-762)agtfs	p.S254fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTTTTCCAGACTTCCAAAACT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.761_762insAA	12.37:g.11244067_11244068insTT	ENSP00000431719:p.Ser254fs		P59546|Q645X4	Frame_Shift_Ins	INS	pfam_TAS2_rcpt	p.S254fs	ENST00000531678.1	37	c.762_761	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.396	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	94	0.00	0	-	NM_176884		11244067	11244068	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	frame_shift_ins	53	15.87	10	INS	0.000:0.000	TT
TGM3	7053	genome.wustl.edu	37	20	2298032	2298032	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr20:2298032C>A	ENST00000381458.5	+	7	947	c.884C>A	c.(883-885)aCc>aAc	p.T295N	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	295					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGGGTGATCACCAACTTCAAC	0.562																																						dbGAP											0													191.0	169.0	176.0					20																	2298032		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.884C>A	20.37:g.2298032C>A	ENSP00000370867:p.Thr295Asn		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T295N	ENST00000381458.5	37	c.884	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943694	0.92593	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.56611	0.45	5.44	5.44	0.79542	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85423	0.1144	10	0.87932	D	0	.	16.8052	0.85625	0.0:1.0:0.0:0.0	.	295	Q08188	TGM3_HUMAN	N	295	ENSP00000370867:T295N	ENSP00000370867:T295N	T	+	2	0	TGM3	2246032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.832000	0.97577	0.655000	0.94253	ACC	TGM3	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000125780		0.562	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	178	0.00	0	C	NM_003245		2298032	2298032	+1	no_errors	ENST00000381458	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	A
TMTC4	84899	genome.wustl.edu	37	13	101316591	101316592	+	Splice_Site	DNP	CT	CT	AA			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr13:101316591_101316592CT>AA	ENST00000376234.3	-	3	352		c.e3-1		TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000342624.5_Splice_Site	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4							integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGGAGGTCCTGCAGGGTCAC	0.599																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.163_163delinsAA	13.37:g.101316591_101316592delinsAA			A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Splice_Site	SNP	-	e3-1|e3-2	ENST00000376234.3	37	c.220-1|c.220-2	CCDS41904.1	13																																																																																			TMTC4	-	-	ENSG00000125247		0.599	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	171|172	0.00	0	C|T	NM_032813	Intron	101316591|101316592	101316591|101316592	-1	no_errors	ENST00000342624	ensembl	human	known	69_37n	splice_site	72|71	30.10|31.07	31|32	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	134	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	22	58.18	32	SNP	1.000	T
WASF1	8936	genome.wustl.edu	37	6	110422929	110422929	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:110422929C>T	ENST00000392589.1	-	10	2220	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	WASF1_ENST00000392588.1_Missense_Mutation_p.A462T|WASF1_ENST00000392586.1_Missense_Mutation_p.A462T|WASF1_ENST00000392587.2_Missense_Mutation_p.A462T|WASF1_ENST00000359451.2_Missense_Mutation_p.A462T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	462					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGACCTGGGGCAGTAGATGGA	0.532																																						dbGAP											0													192.0	183.0	186.0					6																	110422929		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1384G>A	6.37:g.110422929C>T	ENSP00000376368:p.Ala462Thr		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.A462T	ENST00000392589.1	37	c.1384	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817424	0.50633	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.86	5.86	0.93980	.	0.744524	0.13696	N	0.369217	T	0.14743	0.0356	N	0.08118	0	0.29145	N	0.878742	B	0.09022	0.002	B	0.12156	0.007	T	0.13388	-1.0511	10	0.28530	T	0.3	.	20.177	0.98182	0.0:1.0:0.0:0.0	.	462	Q92558	WASF1_HUMAN	T	462	ENSP00000376365:A462T;ENSP00000376366:A462T;ENSP00000376368:A462T;ENSP00000376367:A462T;ENSP00000352425:A462T	ENSP00000352425:A462T	A	-	1	0	WASF1	110529622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.286000	0.65639	2.773000	0.95371	0.655000	0.94253	GCC	WASF1	-	NULL	ENSG00000112290		0.532	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	504	0.20	1	C	NM_003931		110422929	110422929	-1	no_errors	ENST00000359451	ensembl	human	known	69_37n	missense	174	47.52	163	SNP	1.000	T
WDR35	57539	genome.wustl.edu	37	2	20131080	20131080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr2:20131080C>A	ENST00000345530.3	-	25	3062	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.E972*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.E456*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	983			E -> G (in dbSNP:rs1191778). {ECO:0000269|PubMed:14702039}.		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCATCTGTTCATGGTATTGC	0.358																																						dbGAP											0													167.0	160.0	162.0					2																	20131080		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2947G>T	2.37:g.20131080C>A	ENSP00000314444:p.Glu983*		B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E983*	ENST00000345530.3	37	c.2947	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.323848	0.99383	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055	.	.	.	4.82	3.91	0.45181	.	0.210756	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-18.7985	14.237	0.65934	0.0:0.8497:0.1503:0.0	.	.	.	.	X	983;972;456	.	ENSP00000281405:E972X	E	-	1	0	WDR35	19994561	0.987000	0.35691	0.019000	0.16419	0.680000	0.39746	3.181000	0.50903	1.117000	0.41842	0.591000	0.81541	GAA	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.358	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	340	0.00	0	C	NM_020779		20131080	20131080	-1	no_errors	ENST00000345530	ensembl	human	known	69_37n	nonsense	373	15.61	69	SNP	0.987	A
WIZ	58525	genome.wustl.edu	37	19	15547847	15547847	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr19:15547847C>T	ENST00000389282.4	-	4	2579	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	WIZ_ENST00000263381.7_Missense_Mutation_p.R100Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	789					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TAGGTGGGCCCGGGCGTGGCT	0.637																																						dbGAP											0													35.0	45.0	42.0					19																	15547847		2107	4231	6338	-	-	-	SO:0001583	missense	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2366G>A	19.37:g.15547847C>T	ENSP00000373933:p.Arg789Gln		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R789Q	ENST00000389282.4	37	c.2366		19	.	.	.	.	.	.	.	.	.	.	C	33	5.217156	0.95104	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T;T	0.33438	1.41;1.42	4.26	4.26	0.50523	.	0.269352	0.30920	N	0.008612	T	0.56016	0.1957	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.63554	-0.6611	9	0.87932	D	0	-24.2671	15.6849	0.77402	0.0:1.0:0.0:0.0	.	100	O95785-2	.	Q	789;100	ENSP00000373933:R789Q;ENSP00000263381:R100Q	ENSP00000263381:R100Q	R	-	2	0	WIZ	15408847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.196000	0.77805	2.215000	0.71742	0.449000	0.29647	CGG	WIZ	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000011451		0.637	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		67	0.00	0	C	NM_021241		15547847	15547847	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	1.000	T
ZBTB9	221504	genome.wustl.edu	37	6	33423207	33423207	+	Silent	SNP	G	G	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr6:33423207G>A	ENST00000395064.2	+	2	598	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	110	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GTCTCCGCCTGCCACTGGATG	0.527																																						dbGAP											0													80.0	87.0	84.0					6																	33423207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.330G>A	6.37:g.33423207G>A			A2AB19	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L110	ENST00000395064.2	37	c.330	CCDS4780.1	6																																																																																			ZBTB9	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000213588		0.527	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	HGNC	protein_coding	OTTHUMT00000276533.1	30	0.00	0	G	NM_152735		33423207	33423207	+1	no_errors	ENST00000395064	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.981	A
ZBTB14	7541	genome.wustl.edu	37	18	5291511	5291511	+	Silent	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr18:5291511C>T	ENST00000357006.4	-	4	1034	c.696G>A	c.(694-696)ggG>ggA	p.G232G	ZBTB14_ENST00000400143.3_Silent_p.G232G	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	232					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										GGGTCTGGGACCCCAAGTCTT	0.498																																						dbGAP											0													87.0	95.0	92.0					18																	5291511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.696G>A	18.37:g.5291511C>T			O00403|Q2TB80	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G232	ENST00000357006.4	37	c.696	CCDS11837.1	18																																																																																			ZFP161	-	NULL	ENSG00000198081		0.498	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP161	HGNC	protein_coding	OTTHUMT00000254425.1	46	0.00	0	C	NM_003409		5291511	5291511	-1	no_errors	ENST00000357006	ensembl	human	known	69_37n	silent	15	59.46	22	SNP	0.997	T
ZNF618	114991	genome.wustl.edu	37	9	116750696	116750696	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr9:116750696C>T	ENST00000374126.5	+	3	272	c.173C>T	c.(172-174)aCg>aTg	p.T58M	ZNF618_ENST00000288466.7_Missense_Mutation_p.T58M			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGAACGATGACGGAGGTGAAG	0.632																																						dbGAP											0													60.0	65.0	63.0					9																	116750696		2158	4254	6412	-	-	-	SO:0001583	missense	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.173C>T	9.37:g.116750696C>T	ENSP00000363241:p.Thr58Met		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T58M	ENST00000374126.5	37	c.173		9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095535	0.76870	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.25749	4.0;2.34;1.78	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	T	0.39733	0.1089	L	0.29908	0.895	0.41607	D	0.98888	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;P;D;D	0.79784	0.925;0.993;0.781;0.955;0.96	T	0.32561	-0.9902	10	0.87932	D	0	-16.4936	15.62	0.76799	0.0:1.0:0.0:0.0	.	58;58;58;58;58	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	M	58	ENSP00000288466:T58M;ENSP00000395400:T58M;ENSP00000363239:T58M	ENSP00000288466:T58M	T	+	2	0	ZNF618	115790517	0.989000	0.36119	1.000000	0.80357	0.992000	0.81027	3.403000	0.52615	2.356000	0.79943	0.462000	0.41574	ACG	ZNF618	-	NULL	ENSG00000157657		0.632	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	137	0.72	1	C	XM_054983		116750696	116750696	+1	no_errors	ENST00000374126	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	T
ZPLD1	131368	genome.wustl.edu	37	3	102183084	102183084	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J2-01A-11W-A050-09	TCGA-AO-A0J2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	84b66e02-1b37-4424-b752-363f7861fe74	e3d65145-2dc6-4be3-a3b9-b53940c920fe	g.chr3:102183084T>A	ENST00000491959.1	+	14	1632	c.750T>A	c.(748-750)gaT>gaA	p.D250E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.D250E|ZPLD1_ENST00000306176.1_Missense_Mutation_p.D266E			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	250	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCGATATGATCTTTTCCTTA	0.313																																						dbGAP											0													183.0	178.0	180.0					3																	102183084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.750T>A	3.37:g.102183084T>A	ENSP00000420265:p.Asp250Glu		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.D266E	ENST00000491959.1	37	c.798		3	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541182	0.65085	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82619	-1.63;-1.63;-1.63	5.6	-2.11	0.07187	Zona pellucida sperm-binding protein (3);	0.042935	0.85682	D	0.000000	D	0.86062	0.5843	L	0.55743	1.74	0.51767	D	0.999933	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.83082	-0.0137	10	0.37606	T	0.19	1.2312	12.9358	0.58313	0.0:0.4281:0.0:0.5719	.	266;250	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	E	250;266;250	ENSP00000420265:D250E;ENSP00000307801:D266E;ENSP00000418253:D250E	ENSP00000307801:D266E	D	+	3	2	ZPLD1	103665774	0.722000	0.28017	0.982000	0.44146	0.896000	0.52359	-0.105000	0.10907	-0.132000	0.11557	-0.376000	0.06991	GAT	ZPLD1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000170044		0.313	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	295	0.00	0	T	NM_175056		102183084	102183084	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	missense	175	55.13	215	SNP	0.958	A
