#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
ABCC11	85320	genome.wustl.edu	37	16	48209200	48209200	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:48209200G>C	ENST00000394747.1	-	25	4016	c.3667C>G	c.(3667-3669)Caa>Gaa	p.Q1223E	ABCC11_ENST00000353782.5_Missense_Mutation_p.Q1223E|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q1223E|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q1223E|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1223	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACTGGATCTTGAGGGATCACT	0.632																																						dbGAP											0													84.0	66.0	72.0					16																	48209200		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3667C>G	16.37:g.48209200G>C	ENSP00000378230:p.Gln1223Glu		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q1223E	ENST00000394747.1	37	c.3667	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968144	0.74131	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	4.99	4.04	0.47022	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.962;1.0	D	0.97596	1.0120	10	0.87932	D	0	-10.3696	10.8799	0.46933	0.0931:0.0:0.9069:0.0	.	1223;1223	Q96J66-2;Q96J66	.;ABCCB_HUMAN	E	1223	ENSP00000311326:Q1223E;ENSP00000349017:Q1223E;ENSP00000378231:Q1223E;ENSP00000378230:Q1223E	ENSP00000311326:Q1223E	Q	-	1	0	ABCC11	46766701	1.000000	0.71417	0.921000	0.36526	0.785000	0.44390	7.239000	0.78182	1.098000	0.41479	0.591000	0.81541	CAA	ABCC11	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000121270		0.632	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	47	0.00	0	G	NM_032583		48209200	48209200	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	C
ACTN1	87	genome.wustl.edu	37	14	69387787	69387787	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr14:69387787G>A	ENST00000193403.6	-	3	659	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000394419.4_Silent_p.N92N|ACTN1_ENST00000376839.3_Silent_p.N27N|ACTN1_ENST00000438964.2_Silent_p.N92N|ACTN1_ENST00000538545.2_Silent_p.N92N	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	92	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTTGTTGACGTTGGAGATCT	0.552																																						dbGAP											0													232.0	178.0	196.0					14																	69387787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.276C>T	14.37:g.69387787G>A			B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.N92	ENST00000193403.6	37	c.276	CCDS9792.1	14																																																																																			ACTN1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000072110		0.552	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	200	0.50	1	G	NM_001102		69387787	69387787	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	silent	41	43.84	32	SNP	0.785	A
AKAP13	11214	genome.wustl.edu	37	15	86198828	86198828	+	Missense_Mutation	SNP	G	G	A	rs534473998		TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr15:86198828G>A	ENST00000394518.2	+	11	4650	c.4555G>A	c.(4555-4557)Gag>Aag	p.E1519K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E1519K|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1519					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGGAGCTGAGGGTCGAGA	0.522																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													154.0	130.0	138.0					15																	86198828		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4555G>A	15.37:g.86198828G>A	ENSP00000378026:p.Glu1519Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E1519K	ENST00000394518.2	37	c.4555	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520148	0.85495	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.58358	0.34;0.34	5.91	4.99	0.66335	.	.	.	.	.	T	0.69815	0.3153	M	0.65975	2.015	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.80764	0.994;0.985;0.994	T	0.73332	-0.4016	9	0.72032	D	0.01	.	13.9122	0.63873	0.0725:0.0:0.9275:0.0	.	1519;1519;1519	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	K	1519;1519;1518;1518;159	ENSP00000354718:E1519K;ENSP00000378026:E1519K	ENSP00000354718:E1519K	E	+	1	0	AKAP13	83999832	1.000000	0.71417	0.060000	0.19600	0.915000	0.54546	4.492000	0.60334	1.509000	0.48786	0.655000	0.94253	GAG	AKAP13	-	NULL	ENSG00000170776		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	167	0.00	0	G	NM_007200		86198828	86198828	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	55	29.49	23	SNP	0.987	A
ALDH9A1	223	genome.wustl.edu	37	1	165667703	165667703	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:165667703G>A	ENST00000354775.4	-	1	397	c.93C>T	c.(91-93)gtC>gtT	p.V31V	ALDH9A1_ENST00000538148.1_5'Flank|RP11-466F5.6_ENST00000400982.2_RNA|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	7					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCTGCGACACGACGAAGGTGC	0.672																																					Ovarian(179;1583 2014 18106 33801 42447)	dbGAP											0													18.0	23.0	22.0					1																	165667703		2152	4238	6390	-	-	-	SO:0001819	synonymous_variant	0			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.93C>T	1.37:g.165667703G>A			B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V31	ENST00000354775.4	37	c.93	CCDS1250.2	1																																																																																			ALDH9A1	-	superfamily_Ald_DH/histidinol_DH	ENSG00000143149		0.672	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	11	0.00	0	G			165667703	165667703	-1	no_errors	ENST00000354775	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.369	A
ANKRD53	79998	genome.wustl.edu	37	2	71211878	71211878	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr2:71211878G>A	ENST00000360589.3	+	6	1075	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000441349.1_3'UTR|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Silent_p.S313S	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	347										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AACGGGAATCGCAGCGTTCCA	0.627											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													61.0	69.0	67.0					2																	71211878		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.1041G>A	2.37:g.71211878G>A		1128	Q8IYP8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S347	ENST00000360589.3	37	c.1041	CCDS46321.1	2																																																																																			ANKRD53	-	NULL	ENSG00000144031		0.627	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	45	0.00	0	G	NM_024933		71211878	71211878	+1	no_errors	ENST00000360589	ensembl	human	putative	69_37n	silent	44	13.73	7	SNP	0.000	A
C1orf127	148345	genome.wustl.edu	37	1	11017751	11017751	+	Silent	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:11017751C>T	ENST00000377008.4	-	7	614	c.168G>A	c.(166-168)ctG>ctA	p.L56L	C1orf127_ENST00000377004.4_Silent_p.L205L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	56										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGTCCCATCAGGCTGGCGT	0.582																																						dbGAP											0													82.0	77.0	78.0					1																	11017751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.168G>A	1.37:g.11017751C>T			A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	superfamily_DNA-bd_dom_put	p.L205	ENST00000377008.4	37	c.615		1																																																																																			C1orf127	-	NULL	ENSG00000175262		0.582	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		34	0.00	0	C	NM_173507		11017751	11017751	-1	no_errors	ENST00000377004	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	1.000	T
C1QB	713	genome.wustl.edu	37	1	22987403	22987403	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:22987403G>A	ENST00000314933.6	+	3	418	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	C1QB_ENST00000509305.1_Missense_Mutation_p.G94S	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	96	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCCCCATGGGCCCTAAAGG	0.622																																						dbGAP											0													36.0	42.0	40.0					1																	22987403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.286G>A	1.37:g.22987403G>A	ENSP00000313967:p.Gly96Ser		Q5T959|Q96H17	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G96S	ENST00000314933.6	37	c.286	CCDS228.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474587	0.84640	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.96269	3.795	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.97120	0.9810	10	0.87932	D	0	.	17.6906	0.88268	0.0:0.0:1.0:0.0	.	96	P02746	C1QB_HUMAN	S	94;94;94;96	ENSP00000426317:G94S;ENSP00000423689:G94S;ENSP00000404606:G94S;ENSP00000313967:G96S	ENSP00000313967:G96S	G	+	1	0	C1QB	22859990	1.000000	0.71417	0.929000	0.37066	0.364000	0.29643	9.389000	0.97243	2.596000	0.87737	0.561000	0.74099	GGC	C1QB	-	pfam_Collagen	ENSG00000173369		0.622	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding		48	0.00	0	G	NM_000491		22987403	22987403	+1	no_errors	ENST00000314933	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27465222	27465222	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr2:27465222G>A	ENST00000403525.1	+	39	6104	c.5960G>A	c.(5959-5961)gGa>gAa	p.G1987E	CAD_ENST00000264705.4_Missense_Mutation_p.G2050E			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGGGGTCGGAGAGCACCCC	0.607																																						dbGAP											0													35.0	37.0	36.0					2																	27465222		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5960G>A	2.37:g.27465222G>A	ENSP00000384510:p.Gly1987Glu		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.G2050E	ENST00000403525.1	37	c.6149		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.864752|4.864752	0.91511|0.91511	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99070	.|-5.39;-5.39	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99402|0.99402	0.9789|0.9789	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.97110	.|0.931;1.0	D|D	0.98936|0.98936	1.0789|1.0789	5|10	.|0.46703	.|T	.|0.11	-7.5555|-7.5555	16.8073|16.8073	0.85709|0.85709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1987;2050	.|F8VPD4;P27708	.|.;PYR1_HUMAN	K|E	86|2050;1987	.|ENSP00000264705:G2050E;ENSP00000384510:G1987E	.|ENSP00000264705:G2050E	E|G	+|+	1|2	0|0	CAD|CAD	27318726|27318726	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	9.106000|9.106000	0.94253|0.94253	2.287000|2.287000	0.76781|0.76781	0.561000|0.561000	0.74099|0.74099	GAG|GGA	CAD	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf_euk	ENSG00000084774		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	42	0.00	0	G			27465222	27465222	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	A
CALN1	83698	genome.wustl.edu	37	7	71868340	71868340	+	Intron	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr7:71868340C>T	ENST00000395276.2	-	2	238				CALN1_ENST00000395275.2_Silent_p.E5E|CALN1_ENST00000431984.1_Intron|CALN1_ENST00000412588.1_Silent_p.E5E			Q9BXU9	CABP8_HUMAN	calneuron 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCCGGGTTGCTCTGGCAGCC	0.622																																						dbGAP											0													7.0	8.0	7.0					7																	71868340		1673	3671	5344	-	-	-	SO:0001627	intron_variant	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395276.2:c.6+8702G>A	7.37:g.71868340C>T			J3KQA7	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E5	ENST00000395276.2	37	c.15	CCDS5541.1	7																																																																																			CALN1	-	NULL	ENSG00000183166		0.622	CALN1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000252013.3	42	0.00	0	C	NM_031468		71868340	71868340	-1	no_errors	ENST00000395275	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	1.000	T
CATSPER2	117155	genome.wustl.edu	37	15	43925010	43925010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr15:43925010delA	ENST00000321596.5	-	11	1500	c.1301delT	c.(1300-1302)ttgfs	p.L434fs	CATSPER2_ENST00000354127.4_Frame_Shift_Del_p.L432fs|CATSPER2_ENST00000381761.1_Frame_Shift_Del_p.L438fs|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Intron|CATSPER2_ENST00000396879.1_Frame_Shift_Del_p.L432fs			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	434	Ser-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTTTTTTGACAAGGTCTCTTC	0.403																																						dbGAP											0													127.0	121.0	123.0					15																	43925010		2199	4296	6495	-	-	-	SO:0001589	frameshift_variant	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1301delT	15.37:g.43925010delA	ENSP00000321463:p.Leu434fs		Q8NHT9|Q96P54|Q96P55	Frame_Shift_Del	DEL	pfam_Ion_trans_dom	p.L434fs	ENST00000321596.5	37	c.1301	CCDS10099.1	15																																																																																			CATSPER2	-	NULL	ENSG00000166762		0.403	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	213	0.00	0	A	NM_054020		43925010	43925010	-1	no_errors	ENST00000299989	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.001	-
CD5	921	genome.wustl.edu	37	11	60885726	60885726	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:60885726G>A	ENST00000347785.3	+	3	340	c.174G>A	c.(172-174)atG>atA	p.M58I		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	58	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GATGGCACATGGTTTGCAGCC	0.612																																						dbGAP											0													125.0	127.0	126.0					11																	60885726		2203	4299	6502	-	-	-	SO:0001583	missense	0			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.174G>A	11.37:g.60885726G>A	ENSP00000342681:p.Met58Ile		A0N0P4|A8K9I3	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.M58I	ENST00000347785.3	37	c.174	CCDS8000.1	11	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939468	0.34189	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.34667	1.35;1.35	3.99	-7.99	0.01131	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.469935	0.18166	N	0.149604	T	0.21347	0.0514	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.29353	0.101	T	0.14615	-1.0466	10	0.66056	D	0.02	-6.9819	8.4956	0.33125	0.5889:0.235:0.1761:0.0	.	58	P06127	CD5_HUMAN	I	58	ENSP00000342681:M58I;ENSP00000440899:M58I	ENSP00000342681:M58I	M	+	3	0	CD5	60642302	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-7.868000	0.00028	-2.071000	0.00880	-0.140000	0.14226	ATG	CD5	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	ENSG00000110448		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	127	0.00	0	G	NM_014207		60885726	60885726	+1	no_errors	ENST00000347785	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	0.000	A
CDH1	999	genome.wustl.edu	37	16	68846043	68846043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:68846043delC	ENST00000261769.5	+	8	1205	c.1014delC	c.(1012-1014)ttcfs	p.F338fs	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.F338fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	338	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGAGTTTCCCTACGTATA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(1)|Deletion - In frame(1)	stomach(1)|breast(1)											231.0	168.0	189.0					16																	68846043		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1014delC	16.37:g.68846043delC	ENSP00000261769:p.Phe338fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P339fs	ENST00000261769.5	37	c.1014	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	243	0.00	0	C	NM_004360		68846043	68846043	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	28	35.56	16	DEL	0.001	-
CDKL4	344387	genome.wustl.edu	37	2	39417556	39417556	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr2:39417556G>A	ENST00000395035.3	-	5	541	c.542C>T	c.(541-543)tCa>tTa	p.S181L	CDKL4_ENST00000378803.1_Missense_Mutation_p.S181L			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TATATCGACTGAAGAACCATA	0.468																																						dbGAP											0													166.0	164.0	164.0					2																	39417556		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.542C>T	2.37:g.39417556G>A	ENSP00000378476:p.Ser181Leu		Q2NME9	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.S181L	ENST00000395035.3	37	c.542		2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520145	0.44866	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.65916	-0.18;-0.18	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137880	0.32386	N	0.006174	T	0.53932	0.1827	L	0.33293	1	0.43579	D	0.995915	B;B	0.14012	0.009;0.003	B;B	0.15052	0.012;0.008	T	0.54139	-0.8338	10	0.87932	D	0	-17.1304	16.3175	0.82934	0.0:0.0:1.0:0.0	.	181;181	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	L	181	ENSP00000368080:S181L;ENSP00000378476:S181L	ENSP00000368080:S181L	S	-	2	0	CDKL4	39271060	1.000000	0.71417	0.942000	0.38095	0.415000	0.31203	9.290000	0.96065	2.514000	0.84764	0.609000	0.83330	TCA	CDKL4	-	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	ENSG00000205111		0.468	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	HGNC	protein_coding	OTTHUMT00000331655.1	123	0.00	0	G	XM_293029		39417556	39417556	-1	no_errors	ENST00000378803	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	A
CTNNBL1	56259	genome.wustl.edu	37	20	36361374	36361374	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr20:36361374C>T	ENST00000361383.6	+	2	241	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R15W	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	42					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGCCGCTATCGGGAAGAAGA	0.517																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													73.0	64.0	67.0					20																	36361374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.124C>T	20.37:g.36361374C>T	ENSP00000355050:p.Arg42Trp		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.R15W	ENST00000361383.6	37	c.43	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184185	0.57800	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	T;T	0.50548	0.79;0.74	5.04	4.03	0.46877	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.47716	1.5	0.45995	D	0.998807	D;D	0.89917	0.979;1.0	B;P	0.60012	0.252;0.867	T	0.53500	-0.8430	10	0.66056	D	0.02	-17.0121	7.5315	0.27685	0.2427:0.6175:0.1399:0.0	.	42;15	Q8WYA6;A2A2P1	CTBL1_HUMAN;.	W	42;15;15	ENSP00000355050:R42W;ENSP00000384355:R15W	ENSP00000355050:R42W	R	+	1	2	CTNNBL1	35794788	0.614000	0.27017	0.963000	0.40424	0.914000	0.54420	1.110000	0.31147	2.606000	0.88127	0.561000	0.74099	CGG	CTNNBL1	-	NULL	ENSG00000132792		0.517	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	111	0.00	0	C	NM_030877		36361374	36361374	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.840	T
CTSG	1511	genome.wustl.edu	37	14	25044494	25044494	+	Silent	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr14:25044494C>T	ENST00000216336.2	-	2	216	c.180G>A	c.(178-180)ctG>ctA	p.L60L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	60	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GAGCTGCTGTCAGCACAAAGT	0.587																																						dbGAP											0													102.0	93.0	96.0					14																	25044494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.180G>A	14.37:g.25044494C>T			Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L60	ENST00000216336.2	37	c.180	CCDS9631.1	14																																																																																			CTSG	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000100448		0.587	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	HGNC	protein_coding	OTTHUMT00000276536.2	125	0.00	0	C	NM_001911		25044494	25044494	-1	no_errors	ENST00000216336	ensembl	human	known	69_37n	silent	68	20.00	17	SNP	0.993	T
CYFIP2	26999	genome.wustl.edu	37	5	156817668	156817671	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr5:156817668_156817671delAAGA	ENST00000521420.1	+	29	3599_3602	c.3508_3511delAAGA	c.(3508-3513)aagaatfs	p.KN1170fs	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Frame_Shift_Del_p.KN1221fs|CYFIP2_ENST00000522463.1_Frame_Shift_Del_p.KN1000fs|CYFIP2_ENST00000377576.3_Frame_Shift_Del_p.KN1196fs|CYFIP2_ENST00000347377.6_Frame_Shift_Del_p.KN1196fs|CYFIP2_ENST00000541131.1_Frame_Shift_Del_p.KN1121fs|CYFIP2_ENST00000435847.2_Frame_Shift_Del_p.KN895fs					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAAATCATTAAGAATGTGGTGAG	0.539																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3508_3511delAAGA	5.37:g.156817668_156817671delAAGA	ENSP00000430904:p.Lys1170fs			Frame_Shift_Del	DEL	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.K1221fs	ENST00000521420.1	37	c.3661_3664		5																																																																																			CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.539	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	111	0.00	0	AAGA	NM_001037332		156817668	156817671	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	frame_shift_del	63	14.67	11	DEL	1.000:1.000:1.000:1.000	-
DENND4C	55667	genome.wustl.edu	37	9	19361904	19361904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:19361904delA	ENST00000380432.2	+	25	4645	c.4612delA	c.(4612-4614)aatfs	p.N1538fs	DENND4C_ENST00000602925.1_Frame_Shift_Del_p.N1774fs|DENND4C_ENST00000434457.2_Frame_Shift_Del_p.N1823fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1538					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTATGGGATAATATCAACCT	0.373																																						dbGAP											0													121.0	115.0	117.0					9																	19361904		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4612delA	9.37:g.19361904delA	ENSP00000369797:p.Asn1538fs		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Frame_Shift_Del	DEL	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.N1538fs	ENST00000380432.2	37	c.4612		9																																																																																			DENND4C	-	NULL	ENSG00000137145		0.373	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		182	0.00	0	A	NM_017925		19361904	19361904	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
BRINP1	1620	genome.wustl.edu	37	9	121929944	121929944	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:121929944G>A	ENST00000265922.3	-	8	2165	c.1704C>T	c.(1702-1704)agC>agT	p.S568S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	568					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.S568R(1)									AATGGCTCCCGCTAAAGGGGT	0.557																																						dbGAP											1	Substitution - Missense(1)	lung(1)											40.0	41.0	40.0					9																	121929944		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1704C>T	9.37:g.121929944G>A			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.S568	ENST00000265922.3	37	c.1704	CCDS6822.1	9																																																																																			DBC1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	39	0.00	0	G	NM_014618		121929944	121929944	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.822	A
DSPP	1834	genome.wustl.edu	37	4	88537234	88537234	+	Silent	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr4:88537234C>T	ENST00000282478.7	+	4	3453	c.3420C>T	c.(3418-3420)aaC>aaT	p.N1140N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.N1140N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1140	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcaacagcagtgaca	0.557																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3420C>T	4.37:g.88537234C>T			A8MUI0|O95815	Silent	SNP	NULL	p.N1140	ENST00000282478.7	37	c.3420	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	178	0.00	0	C	NM_014208		88537234	88537234	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	74	10.84	9	SNP	0.263	T
ERCC5	2073	genome.wustl.edu	37	13	103514694	103514694	+	Missense_Mutation	SNP	G	G	A	rs4150315	byFrequency	TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr13:103514694G>A	ENST00000355739.4	+	8	2618	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R824Q	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	399			E -> K (in dbSNP:rs4150315). {ECO:0000269|Ref.6}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGACGATGACGAAGATGTAAA	0.537			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													79.0	79.0	79.0					13																	103514694		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1195G>A	13.37:g.103514694G>A	ENSP00000347978:p.Glu399Lys		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.E399K	ENST00000355739.4	37	c.1195	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944577	0.53079	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.18016	2.24	5.37	3.6	0.41247	.	0.425221	0.26673	N	0.023081	T	0.28665	0.0710	M	0.64997	1.995	0.80722	D	1	D;D;P	0.76494	0.999;0.957;0.539	P;B;B	0.57548	0.823;0.267;0.016	T	0.03818	-1.1001	10	0.21014	T	0.42	-10.7408	10.9277	0.47199	0.2084:0.0:0.7916:0.0	rs4150315;rs4150315	399;399;824	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	K	824;399;231	ENSP00000347978:E399K	ENSP00000347978:E399K	E	+	1	0	ERCC5	102312695	0.992000	0.36948	0.961000	0.40146	0.388000	0.30384	2.842000	0.48230	1.222000	0.43521	0.655000	0.94253	GAA	ERCC5	-	tigrfam_XPGC_DNA_repair	ENSG00000134899		0.537	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	76	0.00	0	G			103514694	103514694	+1	no_errors	ENST00000355739	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	0.940	A
F11R	50848	genome.wustl.edu	37	1	160970527	160970527	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:160970527G>C	ENST00000368026.6	-	4	556	c.282C>G	c.(280-282)atC>atG	p.I94M	F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	94	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537																																						dbGAP											0													151.0	110.0	124.0					1																	160970527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.282C>G	1.37:g.160970527G>C	ENSP00000357005:p.Ile94Met		B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I98M	ENST00000368026.6	37	c.294	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771890	0.31320	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.28454	1.61;1.61	5.18	2.94	0.34122	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.140939	0.46758	D	0.000274	T	0.45196	0.1330	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.992	D;D;D;D	0.76071	0.987;0.973;0.973;0.953	T	0.52117	-0.8618	10	0.72032	D	0.01	.	10.2364	0.43286	0.1957:0.0:0.8043:0.0	.	98;94;94;94	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	M	94;94;94;98	ENSP00000357005:I94M;ENSP00000394809:I98M	ENSP00000289779:I94M	I	-	3	3	F11R	159237151	0.963000	0.33076	1.000000	0.80357	0.016000	0.09150	1.045000	0.30341	1.169000	0.42739	-0.251000	0.11542	ATC	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000158769		0.537	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	101	0.00	0	G	NM_016946		160970527	160970527	-1	no_errors	ENST00000436182	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.986	C
FAM120C	54954	genome.wustl.edu	37	X	54143207	54143207	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chrX:54143207C>G	ENST00000375180.2	-	10	2139	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	FAM120C_ENST00000328235.4_Missense_Mutation_p.E695Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	695							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGACCACTCTTTAAGGATC	0.478																																						dbGAP											0													87.0	76.0	80.0					X																	54143207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2083G>C	X.37:g.54143207C>G	ENSP00000364324:p.Glu695Gln		B2RMT7	Missense_Mutation	SNP	NULL	p.E695Q	ENST00000375180.2	37	c.2083	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381557	0.82792	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.53857	0.6;0.6	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.75994	-0.3121	10	0.87932	D	0	-10.4573	15.5832	0.76462	0.0:1.0:0.0:0.0	.	695;695	F8W881;Q9NX05	.;F120C_HUMAN	Q	695	ENSP00000364324:E695Q;ENSP00000329896:E695Q	ENSP00000329896:E695Q	E	-	1	0	FAM120C	54159932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.402000	0.79972	2.007000	0.58848	0.594000	0.82650	GAG	FAM120C	-	NULL	ENSG00000184083		0.478	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	115	0.00	0	C	NM_017848		54143207	54143207	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	G
FAM205A	259308	genome.wustl.edu	37	9	34726876	34726876	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:34726876C>T	ENST00000378788.3	-	4	400	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	121						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						TGGTTGTTCTCACCCACCAGC	0.517																																						dbGAP											0													23.0	20.0	21.0					9																	34726876		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.361G>A	9.37:g.34726876C>T	ENSP00000417711:p.Glu121Lys		A8MVW7	Missense_Mutation	SNP	NULL	p.E121K	ENST00000378788.3	37	c.361	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634990	0.67130	.	.	ENSG00000205108	ENST00000378788	T	0.30448	1.53	4.17	3.27	0.37495	.	0.451871	0.16216	U	0.224276	T	0.34366	0.0895	M	0.72894	2.215	0.27023	N	0.964413	D	0.54047	0.964	P	0.45712	0.491	T	0.18650	-1.0330	10	0.40728	T	0.16	.	7.8437	0.29414	0.0:0.8845:0.0:0.1155	.	121	Q6ZU69	F205A_HUMAN	K	121	ENSP00000417711:E121K	ENSP00000417711:E121K	E	-	1	0	RP11-195F19.10	34716876	0.026000	0.19158	0.486000	0.27416	0.879000	0.50718	1.140000	0.31516	1.084000	0.41184	0.650000	0.86243	GAG	FAM205A	-	NULL	ENSG00000205108		0.517	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	37	0.00	0	C	NM_001141917		34726876	34726876	-1	no_errors	ENST00000378788	ensembl	human	novel	69_37n	missense	8	33.33	4	SNP	0.828	T
FUBP1	8880	genome.wustl.edu	37	1	78444657	78444657	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:78444657G>T	ENST00000370768.2	-	1	113	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	FUBP1_ENST00000436586.2_Missense_Mutation_p.S11Y|FUBP1_ENST00000370767.1_Missense_Mutation_p.S11Y	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	11					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGCCAGAAGAGGGGGGAGG	0.562			"""F, N"""		oligodendroglioma																																	dbGAP		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													37.0	42.0	40.0					1																	78444657		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.32C>A	1.37:g.78444657G>T	ENSP00000359804:p.Ser11Tyr		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.S11Y	ENST00000370768.2	37	c.32	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647989	0.67358	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.52754	1.4;1.38;1.35;0.65	5.23	5.23	0.72850	.	0.307687	0.36101	N	0.002791	T	0.32941	0.0846	L	0.40543	1.245	0.09310	N	0.999993	D;P	0.62365	0.991;0.939	P;P	0.47744	0.556;0.496	T	0.19063	-1.0317	10	0.66056	D	0.02	-6.6769	13.6824	0.62493	0.0:0.0:0.8453:0.1547	.	11;11	B4DT31;Q96AE4	.;FUBP1_HUMAN	Y	11	ENSP00000359803:S11Y;ENSP00000359804:S11Y;ENSP00000389536:S11Y;ENSP00000402630:S11Y	ENSP00000294623:S11Y	S	-	2	0	FUBP1	78217245	0.967000	0.33354	0.453000	0.27007	0.920000	0.55202	4.968000	0.63728	2.599000	0.87857	0.561000	0.74099	TCT	FUBP1	-	NULL	ENSG00000162613		0.562	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	62	0.00	0	G	NM_003902		78444657	78444657	-1	no_errors	ENST00000436586	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	0.117	T
GLCE	26035	genome.wustl.edu	37	15	69561032	69561032	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr15:69561032delA	ENST00000261858.2	+	5	1531	c.1303delA	c.(1303-1305)aagfs	p.K435fs	GLCE_ENST00000559420.2_Frame_Shift_Del_p.K371fs	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	435					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAAGGGTTCAAGTCTTTAGA	0.463																																						dbGAP											0													73.0	67.0	69.0					15																	69561032		2200	4298	6498	-	-	-	SO:0001589	frameshift_variant	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1303delA	15.37:g.69561032delA	ENSP00000261858:p.Lys435fs		Q6GUQ2	Frame_Shift_Del	DEL	pfam_C5-epim	p.K435fs	ENST00000261858.2	37	c.1303	CCDS32277.1	15																																																																																			GLCE	-	pfam_C5-epim	ENSG00000138604		0.463	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		67	0.00	0	A	NM_015554		69561032	69561032	+1	no_errors	ENST00000261858	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.999	-
GRIA3	2892	genome.wustl.edu	37	X	122551281	122551281	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chrX:122551281C>G	ENST00000371251.1	+	11	1581	c.1529C>G	c.(1528-1530)aCt>aGt	p.T510S	GRIA3_ENST00000264357.5_Missense_Mutation_p.T510S|GRIA3_ENST00000541091.1_Missense_Mutation_p.T494S|GRIA3_ENST00000371256.5_Missense_Mutation_p.T510S|GRIA3_ENST00000542149.1_Missense_Mutation_p.T510S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	510	Glutamate binding. {ECO:0000250}.				glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTCCACTCACTATAACATTG	0.363																																						dbGAP											0													115.0	117.0	116.0					X																	122551281		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1529C>G	X.37:g.122551281C>G	ENSP00000360297:p.Thr510Ser		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T510S	ENST00000371251.1	37	c.1529	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757975	0.89843	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.55588	0.98;0.98;0.98;0.98;0.51	5.84	5.84	0.93424	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.54965	1.715	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.99	D;D;D	0.72982	0.94;0.952;0.979	T	0.71434	-0.4594	10	0.87932	D	0	.	17.9095	0.88929	0.0:1.0:0.0:0.0	.	494;510;510	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	S	510;510;510;510;494	ENSP00000264357:T510S;ENSP00000446146:T510S;ENSP00000360302:T510S;ENSP00000360297:T510S;ENSP00000446440:T494S	ENSP00000264357:T510S	T	+	2	0	GRIA3	122378962	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.818000	0.86416	2.449000	0.82847	0.600000	0.82982	ACT	GRIA3	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000125675		0.363	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	171	0.00	0	C	NM_000828		122551281	122551281	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	G
HYDIN	54768	genome.wustl.edu	37	16	70891628	70891628	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:70891628T>C	ENST00000393567.2	-	72	12425	c.12275A>G	c.(12274-12276)aAc>aGc	p.N4092S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4092					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGCTGAAGTTGAGGTGTGA	0.493																																						dbGAP											0													183.0	204.0	197.0					16																	70891628		2008	4198	6206	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12275A>G	16.37:g.70891628T>C	ENSP00000377197:p.Asn4092Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.N4091S	ENST00000393567.2	37	c.12272	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894129	0.52121	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01099	5.34	5.86	4.7	0.59300	.	0.000000	0.35235	U	0.003358	T	0.03305	0.0096	M	0.65975	2.015	0.80722	D	1	P	0.51057	0.941	P	0.51135	0.66	T	0.57974	-0.7718	10	0.37606	T	0.19	.	13.3878	0.60805	0.0:0.0:0.1396:0.8604	.	4091	F8WD23	.	S	4092;4091	ENSP00000377197:N4092S	ENSP00000313052:N4091S	N	-	2	0	HYDIN	69449129	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.463000	0.60128	2.242000	0.73789	0.418000	0.28097	AAC	HYDIN	-	NULL	ENSG00000157423		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	502	0.20	1	T			70891628	70891628	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	1.000	C
ITPKB	3707	genome.wustl.edu	37	1	226836376	226836376	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:226836376C>T	ENST00000272117.3	-	2	2028	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	ITPKB_ENST00000429204.1_Missense_Mutation_p.A677T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	677					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A677T(1)|p.A203T(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCTACCTGCGTGTCCTGCC	0.547																																					Colon(84;110 1851 5306 33547)	dbGAP											2	Substitution - Missense(2)	lung(2)											155.0	151.0	152.0					1																	226836376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2029G>A	1.37:g.226836376C>T	ENSP00000272117:p.Ala677Thr		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.A677T	ENST00000272117.3	37	c.2029	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185474	0.78677	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	L	0.43701	1.375	0.80722	D	1	P	0.35793	0.521	B	0.27170	0.077	T	0.02371	-1.1169	10	0.48119	T	0.1	.	19.8414	0.96690	0.0:1.0:0.0:0.0	.	677	P27987	IP3KB_HUMAN	T	677	ENSP00000272117:A677T;ENSP00000411152:A677T	ENSP00000272117:A677T	A	-	1	0	ITPKB	224902999	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	7.553000	0.82203	2.769000	0.95229	0.655000	0.94253	GCA	ITPKB	-	NULL	ENSG00000143772		0.547	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	166	0.00	0	C	NM_002221		226836376	226836376	-1	no_errors	ENST00000272117	ensembl	human	known	69_37n	missense	65	10.96	8	SNP	1.000	T
CCDC183	84960	genome.wustl.edu	37	9	139699835	139699835	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:139699835G>A	ENST00000338005.6	+	9	909	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	RABL6_ENST00000311502.7_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		292										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTCCACAGCAGAAATGGAATA	0.587																																						dbGAP											0													74.0	82.0	79.0					9																	139699835		2010	4175	6185	-	-	-	SO:0001583	missense	0																														ENST00000338005.6:c.874G>A	9.37:g.139699835G>A	ENSP00000338013:p.Glu292Lys		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.E292K	ENST00000338005.6	37	c.874	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910143	0.17833	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13657	2.57	4.7	2.71	0.32032	.	0.809613	0.10091	U	0.717131	T	0.06781	0.0173	N	0.22421	0.69	0.22796	N	0.998725	B	0.32467	0.372	B	0.26864	0.074	T	0.28299	-1.0048	10	0.06757	T	0.87	-9.2197	5.9256	0.19110	0.106:0.1951:0.6988:0.0	.	292	Q5T5S1	K1984_HUMAN	K	292	ENSP00000338013:E292K	ENSP00000338013:E292K	E	+	1	0	KIAA1984	138819656	0.450000	0.25697	0.009000	0.14445	0.004000	0.04260	1.674000	0.37544	1.099000	0.41499	0.555000	0.69702	GAA	KIAA1984	-	NULL	ENSG00000213213		0.587	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	83	0.00	0	G			139699835	139699835	+1	no_errors	ENST00000338005	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	0.010	A
CCDC183	84960	genome.wustl.edu	37	9	139700996	139700996	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:139700996G>C	ENST00000338005.6	+	11	1185	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	RABL6_ENST00000311502.7_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		384										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CATGCTAAAAGAGGAAGAAGA	0.567																																						dbGAP											0													38.0	45.0	43.0					9																	139700996		2075	4213	6288	-	-	-	SO:0001583	missense	0																														ENST00000338005.6:c.1150G>C	9.37:g.139700996G>C	ENSP00000338013:p.Glu384Gln		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.E384Q	ENST00000338005.6	37	c.1150	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513062	0.12944	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.18960	2.18	4.68	3.76	0.43208	.	.	.	.	.	T	0.18964	0.0455	L	0.54323	1.7	0.80722	D	1	B	0.27656	0.184	B	0.27076	0.076	T	0.02975	-1.1087	9	0.23302	T	0.38	-23.3307	9.286	0.37758	0.1071:0.0:0.8929:0.0	.	384	Q5T5S1	K1984_HUMAN	Q	384	ENSP00000338013:E384Q	ENSP00000338013:E384Q	E	+	1	0	KIAA1984	138820817	0.992000	0.36948	0.937000	0.37676	0.302000	0.27658	2.313000	0.43735	2.291000	0.77112	0.491000	0.48974	GAG	KIAA1984	-	NULL	ENSG00000213213		0.567	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	41	0.00	0	G			139700996	139700996	+1	no_errors	ENST00000338005	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.850	C
MAGEC3	139081	genome.wustl.edu	37	X	140969318	140969318	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chrX:140969318C>G	ENST00000298296.1	+	4	645	c.645C>G	c.(643-645)atC>atG	p.I215M	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	215	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATGTCATCAACACATACA	0.443																																						dbGAP											0													167.0	150.0	156.0					X																	140969318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.645C>G	X.37:g.140969318C>G	ENSP00000298296:p.Ile215Met		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.I215M	ENST00000298296.1	37	c.645	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679480	0.14907	.	.	ENSG00000165509	ENST00000298296	T	0.05717	3.4	1.94	-0.035	0.13894	.	.	.	.	.	T	0.11024	0.0269	M	0.70787	2.145	0.09310	N	1	D	0.59357	0.985	P	0.51777	0.679	T	0.16988	-1.0384	9	0.44086	T	0.13	.	2.1348	0.03759	0.3075:0.4879:0.0:0.2046	.	215	Q8TD91	MAGC3_HUMAN	M	215	ENSP00000298296:I215M	ENSP00000298296:I215M	I	+	3	3	MAGEC3	140796984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.899000	0.04101	-0.113000	0.11958	-0.388000	0.06559	ATC	MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.443	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	188	0.00	0	C	NM_138702		140969318	140969318	+1	no_errors	ENST00000298296	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.000	G
MAP3K1	4214	genome.wustl.edu	37	5	56178672	56178673	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr5:56178672_56178673insA	ENST00000399503.3	+	14	3645_3646	c.3645_3646insA	c.(3646-3648)atcfs	p.I1216fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1216	Poly-Ile.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGGAGAAGATATCATCATTAT	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3646dupA	5.37:g.56178673_56178673dupA	ENSP00000382423:p.Ile1216fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.I1215fs	ENST00000399503.3	37	c.3645_3646	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.441	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	82	0.00	0	-	XM_042066		56178672	56178673	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	12	33.33	6	INS	0.977:0.997	A
MINPP1	9562	genome.wustl.edu	37	10	89311854	89311854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr10:89311854delT	ENST00000371996.4	+	5	1124	c.1083delT	c.(1081-1083)tctfs	p.S362fs	MINPP1_ENST00000536010.1_Frame_Shift_Del_p.S161fs|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Frame_Shift_Del_p.L285fs	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	362					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AGCCAATTTCTTCTCCAGTCA	0.378																																						dbGAP											0													75.0	73.0	74.0					10																	89311854		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1083delT	10.37:g.89311854delT	ENSP00000361064:p.Ser362fs		F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Frame_Shift_Del	DEL	pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk	p.S362fs	ENST00000371996.4	37	c.1083	CCDS7384.1	10																																																																																			MINPP1	-	pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk	ENSG00000107789		0.378	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINPP1	HGNC	protein_coding	OTTHUMT00000049221.1	148	0.00	0	T			89311854	89311854	+1	no_errors	ENST00000371996	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.991	-
MUC5B	727897	genome.wustl.edu	37	11	1254322	1254322	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:1254322G>A	ENST00000529681.1	+	18	2203	c.2145G>A	c.(2143-2145)ctG>ctA	p.L715L	MUC5B_ENST00000447027.1_Silent_p.L718L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	715	TIL 2.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCGCGGCCTGAGTGAGGCCG	0.682																																						dbGAP											0													25.0	32.0	30.0					11																	1254322		2151	4236	6387	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2145G>A	11.37:g.1254322G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L718	ENST00000529681.1	37	c.2154	CCDS44515.2	11																																																																																			MUC5B	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000117983		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	33	0.00	0	G	XM_001126093		1254322	1254322	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	33	35.29	18	SNP	0.979	A
MXRA5	25878	genome.wustl.edu	37	X	3242309	3242309	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chrX:3242309C>T	ENST00000217939.6	-	5	1571	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	473						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGCTTCTGCCCCGAGCCTGC	0.517																																						dbGAP											0													112.0	105.0	107.0					X																	3242309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1417G>A	X.37:g.3242309C>T	ENSP00000217939:p.Gly473Ser		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G473S	ENST00000217939.6	37	c.1417	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.241476	0.00274	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.59364	0.27	3.63	-1.96	0.07525	.	0.284426	0.24841	N	0.035180	T	0.10852	0.0265	N	0.00085	-2.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36915	-0.9728	10	0.05351	T	0.99	.	4.6411	0.12548	0.0:0.2794:0.1537:0.5669	.	473	Q9NR99	MXRA5_HUMAN	S	473	ENSP00000217939:G473S	ENSP00000217939:G473S	G	-	1	0	MXRA5	3252309	0.001000	0.12720	0.000000	0.03702	0.265000	0.26407	0.390000	0.20768	-0.987000	0.03494	-0.430000	0.05897	GGC	MXRA5	-	NULL	ENSG00000101825		0.517	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	75	0.00	0	C	NM_015419		3242309	3242309	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.049	T
MYH1	4619	genome.wustl.edu	37	17	10408307	10408307	+	Silent	SNP	A	A	G	rs150821492	byFrequency	TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr17:10408307A>G	ENST00000226207.5	-	22	2605	c.2511T>C	c.(2509-2511)taT>taC	p.Y837Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	837					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGATCTTGAAATACAGCTTCA	0.458																																						dbGAP											0													119.0	111.0	114.0					17																	10408307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2511T>C	17.37:g.10408307A>G			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y837	ENST00000226207.5	37	c.2511	CCDS11155.1	17																																																																																			MYH1	-	NULL	ENSG00000109061		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	331	0.00	0	A	NM_005963		10408307	10408307	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	1.000	G
NAV2	89797	genome.wustl.edu	37	11	19967967	19967967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:19967967delC	ENST00000396087.3	+	10	2335	c.2236delC	c.(2236-2238)cggfs	p.R746fs	NAV2_ENST00000349880.4_Frame_Shift_Del_p.R723fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.R659fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.R677fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.R675fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.R723fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	746					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGGCTCGGCGGCTGCGGAC	0.493																																						dbGAP											0													53.0	52.0	52.0					11																	19967967		2199	4293	6492	-	-	-	SO:0001589	frameshift_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2236delC	11.37:g.19967967delC	ENSP00000379396:p.Arg746fs		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R746fs	ENST00000396087.3	37	c.2236	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	97	0.00	0	C	NM_145117		19967967	19967967	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
NOLC1	9221	genome.wustl.edu	37	10	103920079	103920079	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr10:103920079G>C	ENST00000605788.1	+	9	1313	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	NOLC1_ENST00000603742.1_Missense_Mutation_p.E79Q|NOLC1_ENST00000488254.2_Missense_Mutation_p.E361Q|NOLC1_ENST00000405356.1_Missense_Mutation_p.E370Q	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	360	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GAAAGCAGCAGAGAGCTCTTC	0.498																																						dbGAP											0													94.0	96.0	96.0					10																	103920079		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1078G>C	10.37:g.103920079G>C	ENSP00000474710:p.Glu360Gln		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.E370Q	ENST00000605788.1	37	c.1108	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566423	0.45694	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.36157	1.27	6.03	5.12	0.69794	.	0.193108	0.36665	N	0.002468	T	0.52565	0.1742	M	0.70595	2.14	0.50813	D	0.999892	D;D;D	0.71674	0.996;0.998;0.994	P;D;P	0.66351	0.899;0.943;0.795	T	0.52147	-0.8614	10	0.51188	T	0.08	-29.6018	7.8604	0.29506	0.1504:0.0:0.8496:0.0	.	361;370;360	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	Q	370;360	ENSP00000385410:E370Q	ENSP00000359024:E360Q	E	+	1	0	NOLC1	103910069	0.999000	0.42202	0.998000	0.56505	0.860000	0.49131	4.089000	0.57685	2.861000	0.98227	0.655000	0.94253	GAG	NOLC1	-	NULL	ENSG00000166197		0.498	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	95	0.00	0	G	NM_004741		103920079	103920079	+1	no_errors	ENST00000405356	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.995	C
NPC1	4864	genome.wustl.edu	37	18	21114508	21114508	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr18:21114508C>T	ENST00000269228.5	-	23	4047	c.3493G>A	c.(3493-3495)Gtg>Atg	p.V1165M	NPC1_ENST00000412552.2_Missense_Mutation_p.V847M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1165			V -> M (in NPC1). {ECO:0000269|PubMed:11349231}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGAACTCCACGGAGATGCCA	0.567																																						dbGAP											0			GRCh37	CM015193	NPC1	M							68.0	57.0	61.0					18																	21114508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3493G>A	18.37:g.21114508C>T	ENSP00000269228:p.Val1165Met		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.V1165M	ENST00000269228.5	37	c.3493	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.216941	0.95104	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.91407	-2.84;-2.84	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98083	1.0405	10	0.87932	D	0	-29.517	19.9298	0.97115	0.0:1.0:0.0:0.0	.	1176;1165	Q59GR1;O15118	.;NPC1_HUMAN	M	1165;847	ENSP00000269228:V1165M;ENSP00000408606:V847M	ENSP00000269228:V1165M	V	-	1	0	NPC1	19368506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.806000	0.86020	2.718000	0.92993	0.643000	0.83706	GTG	NPC1	-	pfam_Patched,tigrfam_NP_C_type	ENSG00000141458		0.567	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	55	0.00	0	C	NM_000271		21114508	21114508	-1	no_errors	ENST00000269228	ensembl	human	known	69_37n	missense	49	27.94	19	SNP	1.000	T
NUP214	8021	genome.wustl.edu	37	9	134015982	134015982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:134015982delA	ENST00000359428.5	+	11	1323	c.1179delA	c.(1177-1179)tcafs	p.S393fs	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Frame_Shift_Del_p.S393fs|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Frame_Shift_Del_p.S393fs			P35658	NU214_HUMAN	nucleoporin 214kDa	393	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTTACTTTCAACAGATGGTG	0.378			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													133.0	134.0	134.0					9																	134015982		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1179delA	9.37:g.134015982delA	ENSP00000352400:p.Ser393fs		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	smart_WD40_repeat	p.T394fs	ENST00000359428.5	37	c.1179	CCDS6940.1	9																																																																																			NUP214	-	NULL	ENSG00000126883		0.378	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	277	0.00	0	A	NM_005085		134015982	134015982	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.998	-
OR52N5	390075	genome.wustl.edu	37	11	5799613	5799613	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:5799613G>A	ENST00000317093.2	-	1	284	c.252C>T	c.(250-252)acC>acT	p.T84T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAGAGTGGTGGTGCAGGTAA	0.433																																						dbGAP											0													104.0	100.0	101.0					11																	5799613		2123	4089	6212	-	-	-	SO:0001819	synonymous_variant	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.252C>T	11.37:g.5799613G>A			B9EH12|Q6IFG2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.T84	ENST00000317093.2	37	c.252	CCDS31397.1	11																																																																																			OR52N5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181009		0.433	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	72	0.00	0	G	NM_001001922		5799613	5799613	-1	no_errors	ENST00000317093	ensembl	human	known	69_37n	silent	8	46.67	7	SNP	0.003	A
OR7A5	26659	genome.wustl.edu	37	19	14938475	14938475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr19:14938475delA	ENST00000322301.3	-	2	666	c.579delT	c.(577-579)tttfs	p.F193fs	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Frame_Shift_Del_p.F193fs			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	193					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGTGATTAAGAAAGCTATCAG	0.423																																						dbGAP											0													70.0	68.0	68.0					19																	14938475		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.579delT	19.37:g.14938475delA	ENSP00000316955:p.Phe193fs		B2R682|Q6IFP1|Q96R96	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N195fs	ENST00000322301.3	37	c.579	CCDS12318.1	19																																																																																			OR7A5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188269		0.423	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A5	HGNC	protein_coding	OTTHUMT00000466518.1	81	0.00	0	A	NM_017506		14938475	14938475	-1	no_errors	ENST00000322301	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.003	-
PKD1	5310	genome.wustl.edu	37	16	2159446	2159446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:2159446G>A	ENST00000262304.4	-	15	5930	c.5722C>T	c.(5722-5724)Cag>Tag	p.Q1908*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q1908*|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1908	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCAGGATCTGAAAATGGACC	0.692																																						dbGAP											0													12.0	14.0	13.0					16																	2159446		2158	4262	6420	-	-	-	SO:0001587	stop_gained	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5722C>T	16.37:g.2159446G>A	ENSP00000262304:p.Gln1908*		Q15140|Q15141	Nonsense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.Q1908*	ENST00000262304.4	37	c.5722	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	8.355	0.831763	0.16820	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	.	.	.	5.33	3.12	0.35913	.	0.931252	0.09153	N	0.841296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	4.3835	0.11305	0.0796:0.231:0.4858:0.2036	.	.	.	.	X	1908;1908;1440;187	.	ENSP00000262304:Q1908X	Q	-	1	0	PKD1	2099447	0.999000	0.42202	0.069000	0.20011	0.125000	0.20455	2.150000	0.42254	1.230000	0.43646	0.544000	0.68410	CAG	PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	13	0.00	0	G			2159446	2159446	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	nonsense	16	20.00	4	SNP	0.002	A
PLXNA2	5362	genome.wustl.edu	37	1	208255805	208255805	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:208255805C>T	ENST00000367033.3	-	11	3104	c.2347G>A	c.(2347-2349)Gtg>Atg	p.V783M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	783					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCACACCACAGCGAAATCC	0.527																																						dbGAP											0													112.0	89.0	97.0					1																	208255805		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2347G>A	1.37:g.208255805C>T	ENSP00000356000:p.Val783Met		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V783M	ENST00000367033.3	37	c.2347	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824821	0.90955	.	.	ENSG00000076356	ENST00000367033	T	0.79845	-1.31	5.0	5.0	0.66597	.	0.058025	0.64402	D	0.000002	D	0.86456	0.5937	M	0.76838	2.35	0.80722	D	1	P	0.51791	0.948	P	0.51385	0.668	D	0.88306	0.2953	10	0.59425	D	0.04	.	18.3328	0.90276	0.0:1.0:0.0:0.0	.	783	O75051	PLXA2_HUMAN	M	783	ENSP00000356000:V783M	ENSP00000356000:V783M	V	-	1	0	PLXNA2	206322428	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.538000	0.82048	2.320000	0.78422	0.655000	0.94253	GTG	PLXNA2	-	NULL	ENSG00000076356		0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	89	0.00	0	C	NM_025179		208255805	208255805	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	T
PPP4C	5531	genome.wustl.edu	37	16	30094768	30094768	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:30094768G>C	ENST00000279387.7	+	6	525	c.357G>C	c.(355-357)caG>caC	p.Q119H	PPP4C_ENST00000561610.1_Missense_Mutation_p.Q119H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	119					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AGAGTCGCCAGATCACGCAGG	0.592																																						dbGAP											0													101.0	91.0	94.0					16																	30094768		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.357G>C	16.37:g.30094768G>C	ENSP00000279387:p.Gln119His		P33172	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Q119H	ENST00000279387.7	37	c.357	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154646	0.78114	.	.	ENSG00000149923	ENST00000279387	T	0.50001	0.76	5.83	4.88	0.63580	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.054204	0.85682	D	0.000000	T	0.64972	0.2647	M	0.83692	2.655	0.80722	D	1	P	0.52463	0.953	P	0.58266	0.836	T	0.69781	-0.5052	10	0.87932	D	0	-9.1133	10.0743	0.42351	0.1547:0.0:0.8453:0.0	.	119	P60510	PP4C_HUMAN	H	119	ENSP00000279387:Q119H	ENSP00000279387:Q119H	Q	+	3	2	PPP4C	30002269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.774000	0.47694	1.480000	0.48289	0.650000	0.86243	CAG	PPP4C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000149923		0.592	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2	58	0.00	0	G	NM_002720		30094768	30094768	+1	no_errors	ENST00000279387	ensembl	human	known	69_37n	missense	64	34.69	34	SNP	1.000	C
PTDSS2	81490	genome.wustl.edu	37	11	489482	489482	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:489482C>T	ENST00000308020.5	+	9	1113	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	313					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCCTGCGTCGCTGGCTGGC	0.692																																						dbGAP											0													41.0	42.0	42.0					11																	489482		2199	4300	6499	-	-	-	SO:0001583	missense	0			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.937C>T	11.37:g.489482C>T	ENSP00000308258:p.Arg313Cys			Missense_Mutation	SNP	pfam_PSS	p.R313C	ENST00000308020.5	37	c.937	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125227	0.77436	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84137	0.0415	9	0.87932	D	0	-22.6586	11.6481	0.51273	0.2216:0.7784:0.0:0.0	.	313	Q9BVG9	PTSS2_HUMAN	C	313	.	ENSP00000308258:R313C	R	+	1	0	PTDSS2	479482	0.661000	0.27430	1.000000	0.80357	0.996000	0.88848	0.933000	0.28897	2.403000	0.81681	0.561000	0.74099	CGC	PTDSS2	-	pfam_PSS	ENSG00000174915		0.692	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	38	0.00	0	C			489482	489482	+1	no_errors	ENST00000308020	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	1.000	T
PTENP1	11191	genome.wustl.edu	37	9	33675365	33675365	+	RNA	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:33675365delA	ENST00000532280.1	-	0	2132					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATTGCCATTAAAAAAAAAGG	0.323																																						dbGAP											0																																										-	-	-			0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675365delA				RNA	DEL	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.323	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	16	0.00	0	A	NR_023917		33675365	33675365	-1	no_errors	ENST00000532280	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.998	-
RIMBP2	23504	genome.wustl.edu	37	12	130892283	130892283	+	Silent	SNP	G	G	A	rs535947066		TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr12:130892283G>A	ENST00000261655.4	-	16	3076	c.2913C>T	c.(2911-2913)aaC>aaT	p.N971N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	971	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGACATCGACGTTGGGCGAGC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													481.0	371.0	408.0					12																	130892283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2913C>T	12.37:g.130892283G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.N971	ENST00000261655.4	37	c.2913	CCDS31925.1	12																																																																																			RIMBP2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	125	0.00	0	G	NM_015347		130892283	130892283	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	silent	53	17.19	11	SNP	0.999	A
RBAK-RBAKDN	100533952	genome.wustl.edu	37	7	5024587	5024587	+	5'UTR	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr7:5024587G>A	ENST00000407184.1	+	0	103									RBAK-RBAKDN readthrough																		GACTCCTCTTGACCAGCACTG	0.458																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.-164G>A	7.37:g.5024587G>A				RNA	SNP	-	NULL	ENST00000407184.1	37	NULL		7																																																																																			RNF216P1	-	-	ENSG00000196204		0.458	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	RNF216P1	HGNC	protein_coding	OTTHUMT00000472007.1	121	0.00	0	G			5024587	5024587	+1	no_errors	ENST00000403969	ensembl	human	known	69_37n	rna	35	20.45	9	SNP	1.000	A
RORB	6096	genome.wustl.edu	37	9	77300402	77300402	+	Silent	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:77300402C>T	ENST00000396204.2	+	10	1281	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	RORB_ENST00000376896.3_Silent_p.I416I			Q92753	RORB_HUMAN	RAR-related orphan receptor B	427	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TACCAACCATCACGGCAGTTT	0.473																																						dbGAP											0													167.0	155.0	159.0					9																	77300402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1281C>T	9.37:g.77300402C>T			Q8WX73	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.I427	ENST00000396204.2	37	c.1281		9																																																																																			RORB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000198963		0.473	RORB-201	KNOWN	basic	protein_coding	RORB	HGNC	protein_coding		116	0.00	0	C			77300402	77300402	+1	no_errors	ENST00000396204	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	1.000	T
SAMD3	154075	genome.wustl.edu	37	6	130497064	130497064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr6:130497064delT	ENST00000368134.2	-	10	1352	c.744delA	c.(742-744)aaafs	p.K248fs	SAMD3_ENST00000457563.2_Frame_Shift_Del_p.K272fs|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.K248fs|SAMD3_ENST00000532763.1_Frame_Shift_Del_p.K246fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.K248fs	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	248										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGTGTCCAAATTTACACTTAT	0.333																																						dbGAP											0													121.0	123.0	122.0					6																	130497064		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.744delA	6.37:g.130497064delT	ENSP00000357116:p.Lys248fs		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K248fs	ENST00000368134.2	37	c.744	CCDS34539.1	6																																																																																			SAMD3	-	NULL	ENSG00000164483		0.333	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	263	0.00	0	T	NM_152552		130497064	130497064	-1	no_errors	ENST00000368134	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
SPTY2D1	144108	genome.wustl.edu	37	11	18636609	18636609	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr11:18636609G>A	ENST00000336349.5	-	3	1447	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	404	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GTCCTGAGCTGGAGCTGCCAT	0.597																																						dbGAP											0													54.0	53.0	54.0					11																	18636609		2198	4293	6491	-	-	-	SO:0001819	synonymous_variant	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1212C>T	11.37:g.18636609G>A			Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.S404	ENST00000336349.5	37	c.1212	CCDS31441.1	11																																																																																			SPTY2D1	-	NULL	ENSG00000179119		0.597	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	27	0.00	0	G	NM_194285		18636609	18636609	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	silent	19	20.83	5	SNP	0.681	A
TAS2R30	259293	genome.wustl.edu	37	12	11286524	11286524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr12:11286524delA	ENST00000539585.1	-	1	719	c.320delT	c.(319-321)ttgfs	p.L108fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	108					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATCCTGAGCAAATAAAACAT	0.398																																						dbGAP											0													105.0	109.0	108.0					12																	11286524		2058	4232	6290	-	-	-	SO:0001589	frameshift_variant	0			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.320delT	12.37:g.11286524delA	ENSP00000444736:p.Leu108fs		Q645X7	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.L107fs	ENST00000539585.1	37	c.320	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.398	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	142	0.00	0	A	NM_001097643		11286524	11286524	-1	no_errors	ENST00000539585	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.622	-
STAC3	246329	genome.wustl.edu	37	12	57638000	57638000	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr12:57638000G>A	ENST00000332782.2	-	11	1068	c.867C>T	c.(865-867)atC>atT	p.I289I	STAC3_ENST00000546246.2_Silent_p.I103I|STAC3_ENST00000554578.1_Silent_p.I250I	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	289	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCTTCTCCCCGATTTTCCCCT	0.562											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	63.0	63.0					12																	57638000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.867C>T	12.37:g.57638000G>A		1024	B4DUK9|Q96HU5	Missense_Mutation	SNP	NULL	p.S81L	ENST00000332782.2	37	c.242	CCDS8936.1	12																																																																																			STAC3	-	NULL	ENSG00000185482		0.562	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC3	HGNC	protein_coding	OTTHUMT00000412724.2	120	0.83	1	G	NM_145064		57638000	57638000	-1	no_errors	ENST00000557176	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.715	A
TMEM104	54868	genome.wustl.edu	37	17	72786402	72786402	+	Missense_Mutation	SNP	G	G	A	rs535487037		TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr17:72786402G>A	ENST00000335464.5	+	5	475	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TMEM104_ENST00000417024.2_Missense_Mutation_p.E118K|TMEM104_ENST00000582330.1_Missense_Mutation_p.E105K|TMEM104_ENST00000582773.1_Missense_Mutation_p.E105K	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	105						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGACAACTACGAGCGGGCAGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17115	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													116.0	104.0	108.0					17																	72786402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.313G>A	17.37:g.72786402G>A	ENSP00000334849:p.Glu105Lys		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E105K	ENST00000335464.5	37	c.313	CCDS32723.1	17	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688802	0.68271	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.46819	1.51;0.86	4.73	4.73	0.59995	.	0.205916	0.50627	D	0.000112	T	0.28797	0.0714	N	0.19112	0.55	0.80722	D	1	P;P;B	0.50617	0.937;0.92;0.039	B;B;B	0.38225	0.268;0.182;0.023	T	0.13980	-1.0489	10	0.07644	T	0.81	-24.2118	16.2734	0.82632	0.0:0.0:1.0:0.0	.	118;105;105	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	K	105;118	ENSP00000334849:E105K;ENSP00000397676:E118K	ENSP00000334849:E105K	E	+	1	0	TMEM104	70297997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.864000	0.87037	2.349000	0.79799	0.561000	0.74099	GAG	TMEM104	-	NULL	ENSG00000109066		0.612	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	74	0.00	0	G	NM_017728		72786402	72786402	+1	no_errors	ENST00000335464	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	A
TMEM141	85014	genome.wustl.edu	37	9	139686770	139686770	+	Silent	SNP	C	C	G			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr9:139686770C>G	ENST00000290079.8	+	4	289	c.273C>G	c.(271-273)ctC>ctG	p.L91L	TMEM141_ENST00000465017.1_3'UTR|RP11-216L13.17_ENST00000456614.2_Silent_p.L66L	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	91						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		ACCTCTGGCTCTTCCTGGAGA	0.592											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													43.0	41.0	42.0					9																	139686770		2198	4296	6494	-	-	-	SO:0001819	synonymous_variant	0			BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.273C>G	9.37:g.139686770C>G		1650	A6NIZ7|Q5T5R5	Silent	SNP	NULL	p.L91	ENST00000290079.8	37	c.273	CCDS7007.1	9																																																																																			TMEM141	-	NULL	ENSG00000244187		0.592	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM141	HGNC	protein_coding	OTTHUMT00000055119.1	84	0.00	0	C	NM_032928		139686770	139686770	+1	no_errors	ENST00000290079	ensembl	human	known	69_37n	silent	37	17.78	8	SNP	1.000	G
TRAPPC2L	51693	genome.wustl.edu	37	16	88926159	88926159	+	Splice_Site	SNP	G	G	A	rs372192905		TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr16:88926159G>A	ENST00000301021.3	+	3	359		c.e3+1		TRAPPC2L_ENST00000561840.1_Splice_Site|TRAPPC2L_ENST00000568583.1_Splice_Site|TRAPPC2L_ENST00000567312.1_Intron|GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000567895.1_Splice_Site|TRAPPC2L_ENST00000564365.1_Splice_Site|GALNS_ENST00000568311.1_5'Flank|GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000565504.1_Splice_Site|GALNS_ENST00000569433.1_5'Flank			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AATTCGCAGCGTAAGTCAGGG	0.483																																						dbGAP											0													123.0	117.0	119.0					16																	88926159		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.294+1G>A	16.37:g.88926159G>A			B2R4M9|Q6ZTA7|Q9NZZ4	Splice_Site	SNP	-	e3+1	ENST00000301021.3	37	c.294+1	CCDS10971.1	16	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691212	0.48097	.	.	ENSG00000167515	ENST00000301021	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4081	0.87479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC2L	87453660	1.000000	0.71417	0.558000	0.28319	0.492000	0.33523	9.492000	0.97957	2.275000	0.75901	0.561000	0.74099	.	TRAPPC2L	-	-	ENSG00000167515		0.483	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC2L	HGNC	protein_coding	OTTHUMT00000269542.1	165	0.00	0	G	NM_016209	Intron	88926159	88926159	+1	no_errors	ENST00000301021	ensembl	human	known	69_37n	splice_site	25	19.35	6	SNP	1.000	A
TRMT2A	27037	genome.wustl.edu	37	22	20102144	20102144	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr22:20102144C>T	ENST00000252136.7	-	7	1574	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	TRMT2A_ENST00000439169.2_Missense_Mutation_p.D396N|TRMT2A_ENST00000404751.3_Missense_Mutation_p.D396N|RANBP1_ENST00000430524.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|AC006547.8_ENST00000412713.1_RNA|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.D396N|TRMT2A_ENST00000492988.1_5'UTR	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	396					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCTAGCAGGTCCTCGTGGATG	0.622																																						dbGAP											0													134.0	131.0	132.0					22																	20102144		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1186G>A	22.37:g.20102144C>T	ENSP00000252136:p.Asp396Asn		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.D396N	ENST00000252136.7	37	c.1186	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711410	0.89112	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.43688	0.94;0.94;0.95	4.67	4.67	0.58626	.	0.099163	0.64402	D	0.000002	T	0.31231	0.0790	N	0.16266	0.395	0.54753	D	0.999984	B;B;B	0.19935	0.04;0.027;0.03	B;B;B	0.27887	0.029;0.084;0.063	T	0.07635	-1.0762	10	0.26408	T	0.33	-45.6113	17.3512	0.87324	0.0:1.0:0.0:0.0	.	396;396;396	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	N	396	ENSP00000252136:D396N;ENSP00000385807:D396N;ENSP00000395738:D396N	ENSP00000252136:D396N	D	-	1	0	TRMT2A	18482144	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.513000	0.67037	2.430000	0.82344	0.561000	0.74099	GAC	TRMT2A	-	NULL	ENSG00000099899		0.622	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	79	0.00	0	C	NM_022727		20102144	20102144	-1	no_errors	ENST00000252136	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	1.000	T
TXNIP	10628	genome.wustl.edu	37	1	145439000	145439000	+	Silent	SNP	T	T	C			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr1:145439000T>C	ENST00000369317.4	+	1	532	c.198T>C	c.(196-198)acT>acC	p.T66T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	66					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAAACAGACTTCGGAGTACC	0.512																																						dbGAP											0													119.0	109.0	112.0					1																	145439000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.198T>C	1.37:g.145439000T>C			B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T66	ENST00000369317.4	37	c.198	CCDS913.1	1																																																																																			TXNIP	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000117289		0.512	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	142	0.00	0	T	NM_006472		145439000	145439000	+1	no_errors	ENST00000369317	ensembl	human	known	69_37n	silent	70	34.58	37	SNP	0.829	C
UBA6	55236	genome.wustl.edu	37	4	68529634	68529634	+	Frame_Shift_Del	DEL	T	T	-	rs371954257		TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr4:68529634delT	ENST00000322244.5	-	11	988	c.929delA	c.(928-930)aagfs	p.K310fs	UBA6_ENST00000420827.2_Frame_Shift_Del_p.K310fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	310					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATAAGGCACTTTGGATGTTT	0.373																																						dbGAP											0													119.0	117.0	118.0					4																	68529634		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.929delA	4.37:g.68529634delT	ENSP00000313454:p.Lys310fs		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.K310fs	ENST00000322244.5	37	c.929	CCDS3516.1	4																																																																																			UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	212	0.00	0	T	NM_018227		68529634	68529634	-1	no_errors	ENST00000322244	ensembl	human	known	69_37n	frame_shift_del	5	28.57	2	DEL	0.998	-
UBOX5	22888	genome.wustl.edu	37	20	3096074	3096074	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr20:3096074C>T	ENST00000217173.2	-	4	1765	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGGCAATTTCCAAGCTTTGT	0.572											OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													134.0	92.0	106.0					20																	3096074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1294G>A	20.37:g.3096074C>T	ENSP00000217173:p.Glu432Lys	608		Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.E432K	ENST00000217173.2	37	c.1294	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458814	0.84317	.	.	ENSG00000185019	ENST00000217173	T	0.32753	1.44	5.01	5.01	0.66863	.	0.057670	0.64402	U	0.000003	T	0.24661	0.0598	N	0.24115	0.695	0.80722	D	1	P;P	0.43094	0.799;0.799	B;B	0.38378	0.272;0.272	T	0.09818	-1.0657	10	0.72032	D	0.01	-6.8488	18.3207	0.90237	0.0:1.0:0.0:0.0	.	432;432	Q53GQ5;O94941	.;RNF37_HUMAN	K	432	ENSP00000217173:E432K	ENSP00000217173:E432K	E	-	1	0	UBOX5	3044074	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.868000	0.69605	2.328000	0.79073	0.313000	0.20887	GAA	UBOX5	-	NULL	ENSG00000185019		0.572	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	52	0.00	0	C	NM_014948		3096074	3096074	-1	no_errors	ENST00000217173	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	T
URB1	9875	genome.wustl.edu	37	21	33744886	33744886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr21:33744886delG	ENST00000382751.3	-	8	1046	c.931delC	c.(931-933)ctgfs	p.L311fs		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	311						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AGATCCATCAGGAAGTTATGA	0.408																																						dbGAP											0													113.0	94.0	100.0					21																	33744886		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.931delC	21.37:g.33744886delG	ENSP00000372199:p.Leu311fs		D3DSE5|Q96NX1|Q9NYQ1	Frame_Shift_Del	DEL	pfam_Npa1_N,superfamily_ARM-type_fold	p.L311fs	ENST00000382751.3	37	c.931	CCDS46645.1	21																																																																																			URB1	-	pfam_Npa1_N	ENSG00000142207		0.408	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	113	0.00	0	G			33744886	33744886	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
ZDHHC20	253832	genome.wustl.edu	37	13	21955625	21955625	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr13:21955625G>A	ENST00000400590.3	-	11	1206	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000415724.1_Silent_p.D336D|ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000542645.1_Silent_p.D273D|ZDHHC20_ENST00000382466.3_Silent_p.D335D			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	336					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GAGATTCACTGTCCAACAAGC	0.388																																						dbGAP											0													79.0	75.0	76.0					13																	21955625		1864	4108	5972	-	-	-	SO:0001819	synonymous_variant	0			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.1008C>T	13.37:g.21955625G>A			A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.D336	ENST00000400590.3	37	c.1008		13																																																																																			ZDHHC20	-	NULL	ENSG00000180776		0.388	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	273	0.00	0	G	NM_153251		21955625	21955625	-1	no_errors	ENST00000400590	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.996	A
ZNFX1	57169	genome.wustl.edu	37	20	47882678	47882678	+	Silent	SNP	G	G	A			TCGA-A2-A0YD-01A-11D-A10G-09	TCGA-A2-A0YD-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	30c9f9e5-90b2-4c73-bce5-eb6a3d31f496	d770c579-5a94-4ac5-a6db-3151b33e3a22	g.chr20:47882678G>A	ENST00000396105.1	-	4	2242	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L	ZNFX1_ENST00000371752.1_Silent_p.L666L|ZNFX1_ENST00000371754.4_Silent_p.L666L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	666							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTACCTTCCAGAAACTGGTCC	0.403																																						dbGAP											0													91.0	89.0	90.0					20																	47882678		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1996C>T	20.37:g.47882678G>A			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L666	ENST00000396105.1	37	c.1996	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.403	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	136	0.00	0	G	NM_021035		47882678	47882678	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	1.000	A
