#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
A2M	2	genome.wustl.edu	37	12	9265042	9265042	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:9265042T>C	ENST00000318602.7	-	3	668	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	121					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCTTAACCATCACTGTGGTC	0.453																																																	0													111.0	107.0	108.0					12																	9265042		1940	4155	6095	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.361A>G	12.37:g.9265042T>C	ENSP00000323929:p.Met121Val		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.M121V	ENST00000318602.7	37	c.361	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	T	3.172	-0.169774	0.06461	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.40225	1.04;1.04	5.77	-11.5	0.00074	.	0.588299	0.15711	N	0.248407	T	0.07188	0.0182	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43114	-0.9411	10	0.44086	T	0.13	.	0.3264	0.00311	0.2613:0.2343:0.2689:0.2355	.	121	P01023	A2MG_HUMAN	V	121;136;121	ENSP00000323929:M121V;ENSP00000385710:M121V	ENSP00000323929:M121V	M	-	1	0	A2M	9156309	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.280000	0.00261	-4.404000	0.00051	-0.321000	0.08615	ATG	A2M	-	superfamily_Cupredoxin		0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	T	NM_000014		9265042	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	missense	SNP	0.001	C
ACR	49	genome.wustl.edu	37	22	51183025	51183025	+	Intron	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr22:51183025C>T	ENST00000216139.5	+	5	751				AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin						acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGACCCCTCTGGGCAGGGG	0.562																																																	0																																										SO:0001627	intron_variant	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.712-56C>T	22.37:g.51183025C>T			Q6ICK2	RNA	SNP	-	NULL	ENST00000216139.5	37	NULL	CCDS14101.1	22																																																																																			ACR	-	-		0.562	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51183025	+1	no_errors	ENST00000527761	ensembl	human	known	70_37	rna	SNP	0.000	T
AKAP13	11214	genome.wustl.edu	37	15	86228062	86228062	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:86228062C>T	ENST00000394518.2	+	16	5342	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F	AKAP13_ENST00000361243.2_Silent_p.F1753F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1749					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						GTCGTACATTCAGCTACATCA	0.408																																					Melanoma(94;603 1453 3280 32295 32951)												0													137.0	124.0	128.0					15																	86228062		2202	4299	6501	SO:0001819	synonymous_variant	11214			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.5247C>T	15.37:g.86228062C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	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.F1753	ENST00000394518.2	37	c.5259	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86228062	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	T
ANKRD52	283373	genome.wustl.edu	37	12	56638887	56638887	+	Splice_Site	SNP	A	A	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:56638887A>G	ENST00000267116.7	-	22	2613	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	831										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGGACTTACACTGCACAGTG	0.532																																																	0													158.0	142.0	147.0					12																	56638887		2025	4202	6227	SO:0001630	splice_region_variant	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2492+1T>C	12.37:g.56638887A>G			A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V831A	ENST00000267116.7	37	c.2492	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	A	8.623	0.891790	0.17613	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.59906	0.23	4.4	3.26	0.37387	Ankyrin repeat-containing domain (4);	0.076168	0.53938	D	0.000048	T	0.27098	0.0664	N	0.01235	-0.94	0.48632	D	0.999685	B	0.27559	0.181	B	0.33799	0.17	T	0.05468	-1.0883	9	.	.	.	.	9.15	0.36957	0.9109:0.0:0.0891:0.0	.	831	Q8NB46	ANR52_HUMAN	A	831	ENSP00000267116:V831A	.	V	-	2	0	ANKRD52	54925154	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.113000	0.71553	0.849000	0.35215	-0.371000	0.07208	GTG	ANKRD52	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.532	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	A	NM_173595	Missense_Mutation	56638887	-1	no_errors	ENST00000267116	ensembl	human	known	70_37	missense	SNP	1.000	G
AQP12A	375318	genome.wustl.edu	37	2	241631397	241631397	+	Missense_Mutation	SNP	C	C	T	rs375647576		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:241631397C>T	ENST00000337801.4	+	1	136	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	AQP12A_ENST00000429564.1_Missense_Mutation_p.R23W|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	23						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGGCCAGGCGGGCCTCCAA	0.687																																																	0									TRP/ARG	0,4342		0,0,2171	49.0	57.0	55.0		67	-0.7	0.8	2		55	1,8573		0,1,4286	no	missense	AQP12A	NM_198998.1	101	0,1,6457	TT,TC,CC		0.0117,0.0,0.0077	benign	23/296	241631397	1,12915	2171	4287	6458	SO:0001583	missense	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.67C>T	2.37:g.241631397C>T	ENSP00000337144:p.Arg23Trp			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.R23W	ENST00000337801.4	37	c.67		2	.	.	.	.	.	.	.	.	.	.	.	5.630	0.300910	0.10678	0.0	1.17E-4	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.04454	3.62;3.62	2.43	-0.699	0.11277	.	0.556195	0.18450	N	0.140848	T	0.04003	0.0112	L	0.50333	1.59	0.31247	N	0.694494	B	0.26809	0.16	B	0.16722	0.016	T	0.23868	-1.0176	10	0.34782	T	0.22	0.0022	3.9651	0.09428	0.43:0.3979:0.0:0.1721	.	23	Q8IXF9	AQ12A_HUMAN	W	23	ENSP00000337144:R23W;ENSP00000405899:R23W	ENSP00000337144:R23W	R	+	1	2	AQP12A	241280070	0.904000	0.30761	0.830000	0.32933	0.320000	0.28249	0.001000	0.13038	-0.324000	0.08589	0.186000	0.17326	CGG	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12		0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	C	NM_198998		241631397	+1	no_errors	ENST00000429564	ensembl	human	known	70_37	missense	SNP	0.730	T
ASB4	51666	genome.wustl.edu	37	7	95157220	95157220	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:95157220G>A	ENST00000325885.5	+	3	654	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	ASB4_ENST00000428113.1_Missense_Mutation_p.V195M	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	195					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GGCCTTCTACGTGGAACACGG	0.597											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	65.0	70.0					7																	95157220		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.583G>A	7.37:g.95157220G>A	ENSP00000321388:p.Val195Met	1310	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.V195M	ENST00000325885.5	37	c.583	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422027	0.43020	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.47528	0.84;0.84	4.87	2.99	0.34606	Ankyrin repeat-containing domain (3);	0.149413	0.48286	D	0.000192	T	0.38401	0.1039	L	0.38692	1.165	0.47214	D	0.999357	P;P	0.49307	0.806;0.922	B;B	0.43889	0.24;0.435	T	0.34054	-0.9844	10	0.72032	D	0.01	-10.5066	9.5337	0.39209	0.0762:0.0:0.779:0.1448	.	195;195	Q9Y574;Q14D68	ASB4_HUMAN;.	M	195	ENSP00000321388:V195M;ENSP00000397070:V195M	ENSP00000321388:V195M	V	+	1	0	ASB4	94995156	0.348000	0.24861	1.000000	0.80357	0.885000	0.51271	0.682000	0.25335	1.324000	0.45282	0.462000	0.41574	GTG	ASB4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	G	NM_016116		95157220	+1	no_errors	ENST00000325885	ensembl	human	known	70_37	missense	SNP	1.000	A
ARPC1B	10095	genome.wustl.edu	37	7	98992156	98992156	+	3'UTR	SNP	G	G	A	rs373763249		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:98992156G>A	ENST00000451682.1	+	0	1472				ARPC1B_ENST00000252725.5_3'UTR|PDAP1_ENST00000496335.1_Intron			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGGGAAGCGGGGAGAGGGG	0.542																																																	0								G		0,4406		0,0,2203	69.0	61.0	64.0			-3.5	0.0	7		64	1,8599	1.2+/-3.3	0,1,4299	no	utr-3	ARPC1B	NM_005720.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			98992156	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	10095			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.*44G>A	7.37:g.98992156G>A			Q9BU00	RNA	SNP	-	NULL	ENST00000451682.1	37	NULL	CCDS5661.1	7																																																																																			ARPC1B	-	-		0.542	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC1B	HGNC	protein_coding	OTTHUMT00000335894.1	G	NM_005720		98992156	+1	no_errors	ENST00000461486	ensembl	human	known	70_37	rna	SNP	0.000	A
BCORL1	63035	genome.wustl.edu	37	X	129155081	129155081	+	Missense_Mutation	SNP	C	C	T	rs368883442		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:129155081C>T	ENST00000218147.7	+	5	3760	c.3563C>T	c.(3562-3564)cCg>cTg	p.P1188L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1188L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1188L|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1188L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1188					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGACAAAGCCGGAGTCCCAG	0.632																																																	0								C	LEU/PRO	1,3833		0,1,1631,570	36.0	37.0	37.0		3563	6.2	1.0	X		37	0,6727		0,0,2428,1871	no	missense	BCORL1	NM_021946.4	98	0,1,4059,2441	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	1188/1712	129155081	1,10560	2202	4299	6501	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3563C>T	X.37:g.129155081C>T	ENSP00000218147:p.Pro1188Leu		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1188L	ENST00000218147.7	37	c.3563	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725189	0.89298	2.61E-4	0.0	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.46063	0.88;1.28;1.03;0.88;1.37	6.17	6.17	0.99709	.	0.000000	0.36374	N	0.002632	T	0.45316	0.1336	N	0.24115	0.695	0.42169	D	0.991633	D;D	0.65815	0.995;0.984	P;B	0.54312	0.748;0.288	T	0.44097	-0.9350	10	0.62326	D	0.03	-7.5129	16.7455	0.85470	0.0:1.0:0.0:0.0	.	1188;1188	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	1188;1188;1188;1188;788	ENSP00000218147:P1188L;ENSP00000307541:P1188L;ENSP00000352253:P1188L;ENSP00000437775:P1188L;ENSP00000399483:P788L	ENSP00000218147:P1188L	P	+	2	0	BCORL1	128982762	0.989000	0.36119	0.953000	0.39169	0.994000	0.84299	3.043000	0.49823	2.618000	0.88619	0.600000	0.82982	CCG	BCORL1	-	NULL		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129155081	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	0.904	T
BHLHE22	27319	genome.wustl.edu	37	8	65494180	65494180	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr8:65494180G>A	ENST00000321870.1	+	1	1367	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	278	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCCTCGGTGCGAAAGCTCTCC	0.647																																					Colon(113;104 1586 2865 9855 18065)												0													27.0	26.0	26.0					8																	65494180		2203	4300	6503	SO:0001583	missense	27319			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.833G>A	8.37:g.65494180G>A	ENSP00000318799:p.Arg278Gln			Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R278Q	ENST00000321870.1	37	c.833	CCDS6179.1	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034571	0.75617	.	.	ENSG00000180828	ENST00000321870	D	0.97870	-4.58	4.01	4.01	0.46588	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000014	D	0.97904	0.9311	L	0.46947	1.48	0.54753	D	0.999982	D	0.76494	0.999	D	0.79108	0.992	D	0.99107	1.0845	10	0.87932	D	0	-7.8122	15.9119	0.79479	0.0:0.0:1.0:0.0	.	278	Q8NFJ8	BHE22_HUMAN	Q	278	ENSP00000318799:R278Q	ENSP00000318799:R278Q	R	+	2	0	BHLHE22	65656734	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.300000	0.78841	2.036000	0.60181	0.313000	0.20887	CGA	BHLHE22	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.647	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1	G	NM_152414		65494180	+1	no_errors	ENST00000321870	ensembl	human	known	70_37	missense	SNP	1.000	A
BTN2A2	10385	genome.wustl.edu	37	6	26392863	26392863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:26392863C>T	ENST00000356709.4	+	8	1351	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.Q204*|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.Q298*|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.Q414*|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	414	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCTGATTCCTCAGAATGGCTT	0.557																																																	0													127.0	120.0	122.0					6																	26392863		2203	4300	6503	SO:0001587	stop_gained	10385			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1240C>T	6.37:g.26392863C>T	ENSP00000349143:p.Gln414*		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.Q414*	ENST00000356709.4	37	c.1240	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	17.94	3.512297	0.64522	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	.	.	.	3.92	-0.928	0.10448	.	0.665201	0.13364	N	0.393453	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.1852	0.37165	0.0:0.2848:0.6173:0.0979	.	.	.	.	X	209;414;298;204;414	.	ENSP00000337117:Q298X	Q	+	1	0	BTN2A2	26500842	0.000000	0.05858	0.148000	0.22405	0.790000	0.44656	-2.585000	0.00903	-0.070000	0.12908	-0.503000	0.04515	CAG	BTN2A2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.557	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	C			26392863	+1	no_errors	ENST00000356709	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZBED8	63920	genome.wustl.edu	37	5	159821108	159821108	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr5:159821108T>C	ENST00000408953.3	-	2	1897	c.1390A>G	c.(1390-1392)Att>Gtt	p.I464V	C5orf54_ENST00000523213.1_Missense_Mutation_p.I464V	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						agatctccaatggaaaaatat	0.308																																																	0													75.0	77.0	76.0					5																	159821108		2203	4298	6501	SO:0001583	missense	63920																														ENST00000408953.3:c.1390A>G	5.37:g.159821108T>C	ENSP00000386184:p.Ile464Val			Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.I464V	ENST00000408953.3	37	c.1390	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	T	0	-2.779334	0.00079	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.22539	1.95;1.95	3.01	-2.87	0.05700	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.29301	T	0.29	.	8.6655	0.34118	0.0:0.3052:0.0:0.6948	.	464	Q8IZ13	CE054_HUMAN	V	464	ENSP00000386184:I464V;ENSP00000428831:I464V	ENSP00000386184:I464V	I	-	1	0	C5orf54	159753686	0.003000	0.15002	0.086000	0.20670	0.849000	0.48306	-0.596000	0.05720	-0.815000	0.04346	-0.798000	0.03219	ATT	C5orf54	-	NULL		0.308	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	T			159821108	-1	no_errors	ENST00000408953	ensembl	human	known	70_37	missense	SNP	0.106	C
CCDC91	55297	genome.wustl.edu	37	12	28605543	28605543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:28605543C>T	ENST00000545336.1	+	14	1476	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	CCDC91_ENST00000306172.5_Nonsense_Mutation_p.Q323*|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.Q317*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.Q317*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.Q353*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	353	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAAAGTATCTCAGGAAATTCA	0.279																																																	0													47.0	53.0	51.0					12																	28605543		2198	4294	6492	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1057C>T	12.37:g.28605543C>T	ENSP00000438040:p.Gln353*		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.Q353*	ENST00000545336.1	37	c.1057	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021734	0.93462	.	.	ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.	.	.	5.43	2.41	0.29592	.	0.450392	0.21040	N	0.081193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.4308	9.8253	0.40908	0.1448:0.5578:0.2974:0.0	.	.	.	.	X	93;317;353;353;353;353;317;323;52	.	ENSP00000305075:Q323X	Q	+	1	0	CCDC91	28496810	0.974000	0.33945	0.991000	0.47740	0.998000	0.95712	0.982000	0.29539	0.272000	0.22027	0.585000	0.79938	CAG	CCDC91	-	NULL		0.279	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	C	NM_018318		28605543	+1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	0.995	T
CCR9	10803	genome.wustl.edu	37	3	45942736	45942736	+	Missense_Mutation	SNP	G	G	A	rs568929897		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:45942736G>A	ENST00000357632.2	+	3	636	c.456G>A	c.(454-456)atG>atA	p.M152I	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.M140I|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.M140I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	152					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCCAGGCCATGAGAGCACATA	0.473																																																	0													124.0	116.0	119.0					3																	45942736		2203	4300	6503	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.456G>A	3.37:g.45942736G>A	ENSP00000350256:p.Met152Ile		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.M152I	ENST00000357632.2	37	c.456	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	7.842	0.722148	0.15372	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.36699	1.24;1.24;1.24	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.166949	0.52532	D	0.000079	T	0.21022	0.0506	N	0.13043	0.29	0.31331	N	0.684872	B	0.11235	0.004	B	0.16722	0.016	T	0.09574	-1.0668	10	0.35671	T	0.21	.	8.6819	0.34214	0.0784:0.0:0.7717:0.1499	.	152	P51686	CCR9_HUMAN	I	152;140;140	ENSP00000350256:M152I;ENSP00000379292:M140I;ENSP00000348260:M140I	ENSP00000348260:M140I	M	+	3	0	CCR9	45917740	0.981000	0.34729	0.717000	0.30585	0.409000	0.31022	1.439000	0.35013	2.289000	0.77006	0.563000	0.77884	ATG	CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	G			45942736	+1	no_errors	ENST00000357632	ensembl	human	known	70_37	missense	SNP	1.000	A
CDC20	991	genome.wustl.edu	37	1	43827899	43827899	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:43827899G>C	ENST00000372462.1	+	9	1440	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	CDC20_ENST00000310955.6_Missense_Mutation_p.E413Q|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	413					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATTACAAGGAGCTCATCTC	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													115.0	101.0	106.0					1																	43827899		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1237G>C	1.37:g.43827899G>C	ENSP00000361540:p.Glu413Gln		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E413Q	ENST00000372462.1	37	c.1237	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.364979	0.95877	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.28454	1.61;1.61	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75016	-0.3466	10	0.87932	D	0	-20.6477	20.1386	0.98045	0.0:0.0:1.0:0.0	.	413	Q12834	CDC20_HUMAN	Q	389;413;413	ENSP00000308450:E413Q;ENSP00000361540:E413Q	ENSP00000308450:E413Q	E	+	1	0	CDC20	43600486	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.522000	0.98032	2.767000	0.95098	0.561000	0.74099	GAG	CDC20	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	G	NM_001255		43827899	+1	no_errors	ENST00000310955	ensembl	human	known	70_37	missense	SNP	1.000	C
CDC20	991	genome.wustl.edu	37	1	43827910	43827910	+	Silent	SNP	A	A	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:43827910A>C	ENST00000372462.1	+	9	1451	c.1248A>C	c.(1246-1248)tcA>tcC	p.S416S	CDC20_ENST00000310955.6_Silent_p.S416S|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	416					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTCATCTCAGGCCATGGCT	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													114.0	100.0	105.0					1																	43827910		2203	4300	6503	SO:0001819	synonymous_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1248A>C	1.37:g.43827910A>C			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S416	ENST00000372462.1	37	c.1248	CCDS484.1	1																																																																																			CDC20	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	A	NM_001255		43827910	+1	no_errors	ENST00000310955	ensembl	human	known	70_37	silent	SNP	0.979	C
CDC42BPB	9578	genome.wustl.edu	37	14	103406262	103406262	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:103406262G>A	ENST00000361246.2	-	33	4902	c.4614C>T	c.(4612-4614)gaC>gaT	p.D1538D	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTCGGAGGTGTCCGGCACGT	0.627																																																	0													138.0	139.0	139.0					14																	103406262		2203	4300	6503	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4614C>T	14.37:g.103406262G>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D1538	ENST00000361246.2	37	c.4614	CCDS9978.1	14																																																																																			CDC42BPB	-	NULL		0.627	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103406262	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	silent	SNP	1.000	A
CDK13	8621	genome.wustl.edu	37	7	40118338	40118338	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:40118338G>A	ENST00000181839.4	+	11	3522	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	CDK13_ENST00000340829.5_Missense_Mutation_p.D973N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	973	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGCTGCGCTAGACTTATTTGA	0.408																																																	0													101.0	99.0	99.0					7																	40118338		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2917G>A	7.37:g.40118338G>A	ENSP00000181839:p.Asp973Asn		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.D973N	ENST00000181839.4	37	c.2917	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558744	0.86231	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.53206	0.63;0.63	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68550	0.3013	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.87578	0.998;0.838	T	0.66420	-0.5928	8	.	.	.	-12.9586	19.5568	0.95354	0.0:0.0:1.0:0.0	.	973;973	Q14004-2;Q14004	.;CDK13_HUMAN	N	973	ENSP00000181839:D973N;ENSP00000340557:D973N	.	D	+	1	0	CDK13	40084863	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.689000	0.91719	0.655000	0.94253	GAC	CDK13	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.408	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	G	NM_003718		40118338	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75884903	75884903	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:75884903C>A	ENST00000322507.8	-	13	2870	c.2561G>T	c.(2560-2562)gGt>gTt	p.G854V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G854V|COL12A1_ENST00000416123.2_Missense_Mutation_p.G854V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	854	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGAGTTTCACCCCCTGCCAC	0.483																																																	0													218.0	217.0	217.0					6																	75884903		1952	4132	6084	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2561G>T	6.37:g.75884903C>A	ENSP00000325146:p.Gly854Val		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G854V	ENST00000322507.8	37	c.2561	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714710	0.68730	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.59838	0.2223	M	0.85041	2.73	0.80722	D	1	B	0.25351	0.124	B	0.31337	0.128	T	0.62627	-0.6814	10	0.66056	D	0.02	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	854	Q99715	COCA1_HUMAN	V	854	ENSP00000325146:G854V;ENSP00000412864:G854V;ENSP00000421216:G854V	ENSP00000325146:G854V	G	-	2	0	COL12A1	75941623	1.000000	0.71417	0.939000	0.37840	0.951000	0.60555	7.487000	0.81328	2.732000	0.93576	0.557000	0.71058	GGT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75884903	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155161923	155161923	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr4:155161923C>G	ENST00000357232.4	-	23	5759	c.5760G>C	c.(5758-5760)ttG>ttC	p.L1920F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1920	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCTGAATTCAAATCCACAT	0.393																																																	0													98.0	88.0	91.0					4																	155161923		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5760G>C	4.37:g.155161923C>G	ENSP00000349768:p.Leu1920Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1920F	ENST00000357232.4	37	c.5760	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698812	0.48307	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.96	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.235259	0.28946	N	0.013633	T	0.59891	0.2227	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.58808	-0.7571	10	0.54805	T	0.06	.	7.0119	0.24867	0.0:0.5849:0.1249:0.2902	.	1920	Q6V1P9	PCD23_HUMAN	F	1920	ENSP00000349768:L1920F	ENSP00000349768:L1920F	L	-	3	2	DCHS2	155381373	0.912000	0.30974	0.997000	0.53966	0.872000	0.50106	0.288000	0.18939	0.860000	0.35481	0.655000	0.94253	TTG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155161923	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.966	G
DDX11	1663	genome.wustl.edu	37	12	31237978	31237978	+	Missense_Mutation	SNP	C	C	T	rs74087925		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:31237978C>T	ENST00000407793.2	+	5	807	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DDX11_ENST00000542838.1_Missense_Mutation_p.R186W|DDX11_ENST00000228264.6_Missense_Mutation_p.R160W|DDX11_ENST00000350437.4_Missense_Mutation_p.R186W|DDX11_ENST00000545668.1_Missense_Mutation_p.R186W|DDX11_ENST00000251758.5_Missense_Mutation_p.R186W	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	186	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAGGCTGAGCGGCTGGAGCA	0.602										Multiple Myeloma(12;0.14)																																							0													25.0	28.0	27.0					12																	31237978		2203	4299	6502	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.556C>T	12.37:g.31237978C>T	ENSP00000384703:p.Arg186Trp		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R186W	ENST00000407793.2	37	c.556	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	6.322	0.427504	0.11987	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.81247	-1.47;-0.61;3.96;-1.38;0.28;0.87;-0.61;-1.17	2.89	2.89	0.33648	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	1.681130	0.03083	N	0.158775	T	0.72070	0.3415	N	0.12182	0.205	0.09310	N	1	D;D;P;D	0.67145	0.989;0.996;0.849;0.991	B;B;B;P	0.46975	0.332;0.424;0.436;0.533	T	0.65796	-0.6081	10	0.66056	D	0.02	.	7.7414	0.28843	0.0:0.738:0.262:0.0	.	186;186;186;186	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	W	186;186;186;160;157;160;186;186	ENSP00000443426:R186W;ENSP00000384703:R186W;ENSP00000251758:R186W;ENSP00000228264:R160W;ENSP00000407646:R157W;ENSP00000406457:R160W;ENSP00000440402:R186W;ENSP00000309965:R186W	ENSP00000228264:R160W	R	+	1	2	DDX11	31129245	0.043000	0.20138	0.006000	0.13384	0.233000	0.25261	2.971000	0.49248	1.464000	0.47987	0.505000	0.49811	CGG	DDX11	-	smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31237978	+1	no_errors	ENST00000407793	ensembl	human	known	70_37	missense	SNP	0.002	T
DGCR2	9993	genome.wustl.edu	37	22	19036055	19036055	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr22:19036055C>T	ENST00000263196.7	-	7	1151	c.904G>A	c.(904-906)Gag>Aag	p.E302K	DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.E261K	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	302	VWFC.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ATCTCAGGCTCCCCTCCATGG	0.572																																																	0													292.0	287.0	289.0					22																	19036055		2203	4300	6503	SO:0001583	missense	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.904G>A	22.37:g.19036055C>T	ENSP00000263196:p.Glu302Lys		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.E302K	ENST00000263196.7	37	c.904	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.607320	0.96626	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	T;D	0.97209	0.84;-4.29	5.8	5.8	0.92144	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	L	0.37630	1.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.97431	1.0015	10	0.42905	T	0.14	.	19.6735	0.95921	0.0:1.0:0.0:0.0	.	258;302	B7Z3T5;P98153	.;IDD_HUMAN	K	261;302;302	ENSP00000440062:E261K;ENSP00000263196:E302K	ENSP00000263196:E302K	E	-	1	0	DGCR2	17416055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.735000	0.93741	0.655000	0.94253	GAG	DGCR2	-	smart_VWF_C		0.572	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	C	NM_005137		19036055	-1	no_errors	ENST00000263196	ensembl	human	known	70_37	missense	SNP	1.000	T
DIDO1	11083	genome.wustl.edu	37	20	61527728	61527728	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr20:61527728C>G	ENST00000266070.4	-	8	2396	c.2071G>C	c.(2071-2073)Gac>Cac	p.D691H	DIDO1_ENST00000395340.1_Missense_Mutation_p.D691H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D691H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D691H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	691	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGATTAAGTCATCGCTGTCA	0.358																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													88.0	81.0	84.0					20																	61527728		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2071G>C	20.37:g.61527728C>G	ENSP00000266070:p.Asp691His		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.D691H	ENST00000266070.4	37	c.2071	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489070	0.84962	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.18502	2.5;2.5;2.21;2.21	6.07	6.07	0.98685	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.45606	D	0.000354	T	0.44829	0.1312	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.15122	-1.0448	10	0.72032	D	0.01	-56.0338	20.6439	0.99570	0.0:1.0:0.0:0.0	.	691;691	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	691	ENSP00000266070:D691H;ENSP00000378752:D691H;ENSP00000378749:D691H;ENSP00000378744:D691H	ENSP00000266070:D691H	D	-	1	0	DIDO1	60998173	1.000000	0.71417	0.967000	0.41034	0.965000	0.64279	7.708000	0.84633	2.884000	0.98904	0.655000	0.94253	GAC	DIDO1	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.358	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61527728	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	32509432	32509432	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:32509432C>T	ENST00000357033.4	-	20	2790	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	DMD_ENST00000378677.2_Missense_Mutation_p.E858K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	862					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGTTGGCTCTGATGGGGTG	0.378																																																	0													113.0	97.0	103.0					X																	32509432		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2584G>A	X.37:g.32509432C>T	ENSP00000354923:p.Glu862Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E862K	ENST00000357033.4	37	c.2584	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	17.40	3.378953	0.61735	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35421	1.31;1.31	5.03	5.03	0.67393	.	0.405831	0.17301	U	0.179255	T	0.23370	0.0565	L	0.27053	0.805	0.80722	D	1	B;P;B	0.43231	0.007;0.801;0.009	B;B;B	0.40741	0.015;0.339;0.025	T	0.02301	-1.1180	10	0.11485	T	0.65	.	8.7925	0.34859	0.0:0.8264:0.0:0.1736	.	854;862;858	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	K	854;858;862;862;739	ENSP00000367948:E858K;ENSP00000354923:E862K	ENSP00000354923:E862K	E	-	1	0	DMD	32419353	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.077000	0.50089	2.220000	0.72140	0.506000	0.49869	GAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32509432	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.998	T
DNAJC14	85406	genome.wustl.edu	37	12	56222390	56222390	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:56222390C>A	ENST00000357606.3	-	3	342	c.53G>T	c.(52-54)gGt>gTt	p.G18V	RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.G18V|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.G18V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	18					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGAGGCACCACCACTGTGGTG	0.587																																																	0													81.0	79.0	80.0					12																	56222390		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.53G>T	12.37:g.56222390C>A	ENSP00000350223:p.Gly18Val		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.G18V	ENST00000357606.3	37	c.53	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279906	0.40294	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.54279	0.58;0.58;0.58	5.69	4.79	0.61399	.	0.342937	0.25546	N	0.029937	T	0.37517	0.1006	N	0.19112	0.55	0.52099	D	0.999941	B;B	0.32968	0.241;0.392	B;B	0.34346	0.172;0.18	T	0.36114	-0.9761	10	0.87932	D	0	-8.6044	9.9181	0.41448	0.0:0.9094:0.0:0.0906	.	18;18	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	V	18	ENSP00000350223:G18V;ENSP00000316240:G18V;ENSP00000317500:G18V	ENSP00000316240:G18V	G	-	2	0	DNAJC14	54508657	0.996000	0.38824	0.996000	0.52242	0.687000	0.40016	1.140000	0.31516	2.857000	0.98124	0.650000	0.86243	GGT	DNAJC14	-	NULL		0.587	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56222390	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	0.995	A
DYNC2H1	79659	genome.wustl.edu	37	11	103049938	103049938	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:103049938C>G	ENST00000375735.2	+	39	6467	c.6323C>G	c.(6322-6324)tCt>tGt	p.S2108C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2108C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2108	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCCACAATATCTAGAATGGGA	0.333																																																	0													101.0	99.0	100.0					11																	103049938		1839	4090	5929	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6323C>G	11.37:g.103049938C>G	ENSP00000364887:p.Ser2108Cys		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S2108C	ENST00000375735.2	37	c.6323	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108839	0.77096	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.94862	-3.54;-3.54	5.36	4.45	0.53987	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.98223	0.9412	H	0.97291	3.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99297	1.0900	9	0.87932	D	0	.	14.2719	0.66157	0.0:0.928:0.0:0.072	.	2108;2108	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2108	ENSP00000364887:S2108C;ENSP00000381167:S2108C	ENSP00000364887:S2108C	S	+	2	0	DYNC2H1	102555148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.583000	0.82559	1.400000	0.46741	0.650000	0.86243	TCT	DYNC2H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103049938	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G
ECT2L	345930	genome.wustl.edu	37	6	139203908	139203908	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:139203908C>A	ENST00000423192.1	+	15	2089	c.1928C>A	c.(1927-1929)gCt>gAt	p.A643D	ECT2L_ENST00000541398.1_Missense_Mutation_p.A574D|ECT2L_ENST00000367682.2_Missense_Mutation_p.A643D			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	643	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGGCCCAGCTCACTGTGTG	0.403			"""N, Splice, Mis"""		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													97.0	95.0	96.0					6																	139203908		1905	4126	6031	SO:0001583	missense	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1928C>A	6.37:g.139203908C>A	ENSP00000387388:p.Ala643Asp		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.A643D	ENST00000423192.1	37	c.1928	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235710	0.39498	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.63913	1.56;1.56;-0.07	5.74	5.74	0.90152	Dbl homology (DH) domain (5);	0.447632	0.13783	U	0.363099	T	0.54615	0.1869	N	0.16743	0.435	0.36997	D	0.895052	P;D	0.89917	0.592;1.0	B;D	0.85130	0.287;0.997	T	0.48410	-0.9038	10	0.12103	T	0.63	-5.1854	16.8389	0.85963	0.0:1.0:0.0:0.0	.	574;643	F5H7S9;Q008S8	.;ECT2L_HUMAN	D	643;643;574	ENSP00000387388:A643D;ENSP00000356655:A643D;ENSP00000442307:A574D	ENSP00000356655:A643D	A	+	2	0	ECT2L	139245601	0.419000	0.25449	0.985000	0.45067	0.738000	0.42128	2.228000	0.42981	2.716000	0.92895	0.650000	0.86243	GCT	ECT2L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.403	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	C	NM_001077706		139203908	+1	no_errors	ENST00000367682	ensembl	human	known	70_37	missense	SNP	0.955	A
BCRP7	100133163	genome.wustl.edu	37	22	18845939	18845939	+	3'UTR	SNP	G	G	A	rs4473486		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr22:18845939G>A	ENST00000412938.1	+	0	3297																											TGCCTGGGCCGTGGAGCACTC	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3294G>A	22.37:g.18845939G>A				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008103.5	-	-		0.483	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	G			18845939	+1	no_errors	ENST00000412938	ensembl	human	known	70_37	rna	SNP	0.000	A
ERCC6L	54821	genome.wustl.edu	37	X	71427938	71427938	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:71427938G>A	ENST00000334463.3	-	2	814	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.L104F	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	227	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCTTCATCGAGGATGACATAG	0.413																																																	0													108.0	100.0	103.0					X																	71427938		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.679C>T	X.37:g.71427938G>A	ENSP00000334675:p.Leu227Phe		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L227F	ENST00000334463.3	37	c.679	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219265	0.58560	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.94184	-3.37;-3.37	5.73	4.86	0.63082	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94909	0.8354	M	0.78344	2.41	0.80722	D	1	D	0.59357	0.985	P	0.56042	0.79	D	0.94612	0.7805	9	0.56958	D	0.05	-13.4333	10.6115	0.45425	0.0937:0.0:0.9063:0.0	.	227	Q2NKX8	ERC6L_HUMAN	F	104;227	ENSP00000362761:L104F;ENSP00000334675:L227F	ENSP00000334675:L227F	L	-	1	0	ERCC6L	71344663	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.653000	0.61462	2.403000	0.81681	0.600000	0.82982	CTC	ERCC6L	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.413	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	G	NM_017669		71427938	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	1.000	A
FLNA	2316	genome.wustl.edu	37	X	153582588	153582588	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:153582588C>T	ENST00000369850.3	-	34	5724	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	FLNA_ENST00000344736.4_Missense_Mutation_p.V1790M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1822M|FLNA_ENST00000422373.1_Missense_Mutation_p.V1822M|FLNA_ENST00000369856.3_Missense_Mutation_p.V21M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1830					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATACCGCACGGTCACGGTG	0.652																																																	0													44.0	46.0	45.0					X																	153582588		2188	4250	6438	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5488G>A	X.37:g.153582588C>T	ENSP00000358866:p.Val1830Met		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V1830M	ENST00000369850.3	37	c.5488	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427503	0.43122	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.92299	-3.01;-3.01;-3.01;0.26;-3.01	5.41	5.41	0.78517	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96525	0.8866	M	0.85542	2.76	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.989;0.976	D	0.97148	0.9829	10	0.87932	D	0	.	18.3027	0.90169	0.0:1.0:0.0:0.0	.	21;1822;1830	E9PHF0;P21333-2;P21333	.;.;FLNA_HUMAN	M	1822;1803;1822;1830;21;1790	ENSP00000353467:V1822M;ENSP00000416926:V1822M;ENSP00000358866:V1830M;ENSP00000358872:V21M;ENSP00000358863:V1790M	ENSP00000358863:V1790M	V	-	1	0	FLNA	153235782	1.000000	0.71417	0.863000	0.33907	0.026000	0.11368	5.971000	0.70440	2.261000	0.74972	0.529000	0.55759	GTG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153582588	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	0.999	T
GALNT2	2590	genome.wustl.edu	37	1	230398692	230398692	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:230398692G>A	ENST00000366672.4	+	13	1326	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	GALNT2_ENST00000543760.1_Silent_p.R380R|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	418					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGAGCTTAGGAAGAAACTCA	0.393																																																	0													93.0	98.0	96.0					1																	230398692		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1254G>A	1.37:g.230398692G>A			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R418	ENST00000366672.4	37	c.1254	CCDS1582.1	1																																																																																			GALNT2	-	NULL		0.393	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	G	NM_004481		230398692	+1	no_errors	ENST00000366672	ensembl	human	known	70_37	silent	SNP	0.998	A
GPR137	56834	genome.wustl.edu	37	11	64055225	64055225	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:64055225C>T	ENST00000313074.3	+	3	545	c.440C>T	c.(439-441)tCg>tTg	p.S147L	GPR137_ENST00000411458.1_Missense_Mutation_p.S205L|GPR137_ENST00000377702.4_Missense_Mutation_p.S147L|GPR137_ENST00000438980.2_Missense_Mutation_p.S147L|GPR137_ENST00000539851.1_Missense_Mutation_p.S147L	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	147						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTGGGGGCCTCGCTGCTCTTT	0.682																																																	0													52.0	61.0	58.0					11																	64055225		2201	4296	6497	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.440C>T	11.37:g.64055225C>T	ENSP00000321698:p.Ser147Leu		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	NULL	p.S147L	ENST00000313074.3	37	c.440	CCDS8066.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242016	0.79912	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074	T;T;T;T;T	0.51071	0.72;0.78;0.78;0.76;0.74	4.79	4.79	0.61399	.	0.159922	0.42964	D	0.000622	T	0.59715	0.2214	L	0.43923	1.385	0.43508	D	0.995768	D;D;D;P;P;D;D	0.89917	0.994;1.0;0.994;0.803;0.893;0.998;0.994	D;D;P;B;P;D;D	0.79108	0.979;0.992;0.901;0.104;0.519;0.979;0.979	T	0.61840	-0.6980	10	0.72032	D	0.01	-14.5261	13.1871	0.59688	0.0:1.0:0.0:0.0	.	147;205;153;147;147;147;147	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	L	153;205;147;147;147;147;147;147;147;147	ENSP00000411827:S205L;ENSP00000442792:S147L;ENSP00000441003:S147L;ENSP00000415698:S147L;ENSP00000321698:S147L	ENSP00000321698:S147L	S	+	2	0	GPR137	63811801	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	1.911000	0.39937	2.484000	0.83849	0.561000	0.74099	TCG	GPR137	-	NULL		0.682	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	HGNC	protein_coding	OTTHUMT00000396412.1	C	NM_020155		64055225	+1	no_errors	ENST00000313074	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIK1	2897	genome.wustl.edu	37	21	30909691	30909691	+	Missense_Mutation	SNP	C	C	T	rs151335244		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr21:30909691C>T	ENST00000389125.3	-	16	2702	c.2578G>A	c.(2578-2580)Gct>Act	p.A860T	GRIK1_ENST00000535441.1_Missense_Mutation_p.A877T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A875T|GRIK1_ENST00000399914.1_Missense_Mutation_p.A889T|GRIK1_ENST00000327783.4_Missense_Mutation_p.A904T	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCATGATAGCGTTGAAAGAG	0.398																																																	0													50.0	49.0	50.0					21																	30909691		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2578G>A	21.37:g.30909691C>T	ENSP00000373777:p.Ala860Thr		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A877T	ENST00000389125.3	37	c.2629	CCDS33530.1	21	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042706	0.55003	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508	T;T;T;T;T	0.13778	2.56;2.71;2.69;2.57;2.69	4.54	4.54	0.55810	.	1.808850	0.02340	N	0.074832	T	0.18593	0.0446	L	0.43152	1.355	0.80722	D	1	B;B;B	0.27656	0.184;0.087;0.141	B;B;B	0.20767	0.029;0.014;0.031	T	0.33445	-0.9868	10	0.23891	T	0.37	.	18.1901	0.89804	0.0:1.0:0.0:0.0	.	889;875;860	E7EPY9;E9PD61;P39086-2	.;.;.	T	904;860;875;889;877;736	ENSP00000327687:A904T;ENSP00000373777:A860T;ENSP00000382797:A875T;ENSP00000382798:A889T;ENSP00000446326:A877T	ENSP00000327687:A904T	A	-	1	0	GRIK1	29831562	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.235000	0.65348	2.810000	0.96702	0.585000	0.79938	GCT	GRIK1	-	NULL		0.398	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171978.1	C			30909691	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	T
HDAC7	51564	genome.wustl.edu	37	12	48189022	48189022	+	Missense_Mutation	SNP	G	G	A	rs531168904		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:48189022G>A	ENST00000427332.2	-	11	1268	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	HDAC7_ENST00000552960.1_Missense_Mutation_p.P393L|HDAC7_ENST00000080059.7_Missense_Mutation_p.P410L|HDAC7_ENST00000380610.4_Missense_Mutation_p.P427L|HDAC7_ENST00000354334.3_Missense_Mutation_p.P373L			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	371	Poly-Pro.|Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATGGGGCCCGGCGGTGGGGG	0.637																																																	0													54.0	63.0	60.0					12																	48189022		2193	4293	6486	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1112C>T	12.37:g.48189022G>A	ENSP00000404394:p.Pro371Leu		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P427L	ENST00000427332.2	37	c.1280		12	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958277	0.02267	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.51574	0.71;0.77;0.71;0.7;0.7	3.94	1.54	0.23209	.	0.517370	0.19158	N	0.121265	T	0.11153	0.0272	N	0.00197	-1.87	0.30683	N	0.752185	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.26395	-1.0104	10	0.13108	T	0.6	.	7.1828	0.25782	0.7987:0.0:0.2013:0.0	.	410;393;373	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	L	410;373;393;427;371	ENSP00000080059:P410L;ENSP00000351326:P373L;ENSP00000448532:P393L;ENSP00000369984:P427L;ENSP00000404394:P371L	ENSP00000080059:P410L	P	-	2	0	HDAC7	46475289	1.000000	0.71417	0.953000	0.39169	0.388000	0.30384	2.215000	0.42862	0.205000	0.20568	-0.379000	0.06801	CCG	HDAC7	-	pirsf_Histone_deAcase_II_euk		0.637	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	G			48189022	-1	no_errors	ENST00000380610	ensembl	human	known	70_37	missense	SNP	0.996	A
HK2	3099	genome.wustl.edu	37	2	75116397	75116397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:75116397C>T	ENST00000290573.2	+	17	3001	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	HK2_ENST00000409174.1_Nonsense_Mutation_p.R773*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	801	Catalytic.|Hexokinase type-2 2.		R -> Q (in dbSNP:rs28363057). {ECO:0000269|Ref.4}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCTGCAAGTCCGAGCCATCCT	0.607																																																	0													75.0	50.0	59.0					2																	75116397		2203	4300	6503	SO:0001587	stop_gained	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2401C>T	2.37:g.75116397C>T	ENSP00000290573:p.Arg801*		D6W5J2|Q8WU87|Q9UN82	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R801*	ENST00000290573.2	37	c.2401	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.281159	0.99375	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	4.56	4.56	0.56223	.	0.052711	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5147	15.2043	0.73165	0.0:1.0:0.0:0.0	.	.	.	.	X	801;801;773	.	ENSP00000290573:R801X	R	+	1	2	HK2	74969905	0.966000	0.33281	0.938000	0.37757	0.966000	0.64601	2.335000	0.43929	2.540000	0.85666	0.561000	0.74099	CGA	HK2	-	pfam_Hexokinase_C		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75116397	+1	no_errors	ENST00000290573	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HSF5	124535	genome.wustl.edu	37	17	56540518	56540518	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr17:56540518C>T	ENST00000323777.3	-	4	1276	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	389					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTACCATCTCCAATTTAG	0.428																																																	0													101.0	95.0	97.0					17																	56540518		2203	4300	6503	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1167G>A	17.37:g.56540518C>T			Q08EH7|Q8N7V2	Silent	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.E389	ENST00000323777.3	37	c.1167	CCDS32690.1	17																																																																																			HSF5	-	NULL		0.428	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	C	XM_064190		56540518	-1	no_errors	ENST00000323777	ensembl	human	known	70_37	silent	SNP	1.000	T
LAMB3	3914	genome.wustl.edu	37	1	209789963	209789963	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:209789963C>G	ENST00000356082.4	-	22	3369	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.E1079Q|LAMB3_ENST00000391911.1_Missense_Mutation_p.E1079Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1079	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TTTATTCTCTCAAATCCCTGA	0.468																																																	0													85.0	82.0	83.0					1																	209789963		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3235G>C	1.37:g.209789963C>G	ENSP00000348384:p.Glu1079Gln		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1079Q	ENST00000356082.4	37	c.3235	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695313	0.30052	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.65178	1.94;1.94;1.94;-0.14	4.63	3.7	0.42460	.	0.471384	0.19812	U	0.105506	T	0.42200	0.1192	N	0.20986	0.625	0.20703	N	0.999869	B	0.26876	0.162	B	0.20577	0.03	T	0.18178	-1.0345	10	0.15952	T	0.53	.	9.1925	0.37209	0.0:0.8952:0.0:0.1048	.	1079	Q13751	LAMB3_HUMAN	Q	1079;1079;1079;148	ENSP00000375778:E1079Q;ENSP00000348384:E1079Q;ENSP00000355997:E1079Q;ENSP00000398683:E148Q	ENSP00000348384:E1079Q	E	-	1	0	LAMB3	207856586	0.576000	0.26700	0.988000	0.46212	0.856000	0.48823	1.391000	0.34475	0.914000	0.36822	0.449000	0.29647	GAG	LAMB3	-	NULL		0.468	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209789963	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	1.000	G
LAMB3	3914	genome.wustl.edu	37	1	209791342	209791342	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:209791342C>T	ENST00000356082.4	-	20	3095	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	LAMB3_ENST00000367030.3_Silent_p.L987L|LAMB3_ENST00000391911.1_Silent_p.L987L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	987	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCCCTGCCGCAGGTTCCCAA	0.602																																																	0													96.0	83.0	88.0					1																	209791342		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2961G>A	1.37:g.209791342C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.L987	ENST00000356082.4	37	c.2961	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.602	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209791342	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.985	T
LHFPL4	375323	genome.wustl.edu	37	3	9594298	9594298	+	Silent	SNP	G	G	A	rs201993485		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:9594298G>A	ENST00000287585.6	-	2	351	c.66C>T	c.(64-66)atC>atT	p.I22I	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	36						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACAGCACGCCGATGGCCCGCG	0.677																																																	0													63.0	71.0	69.0					3																	9594298		2203	4300	6503	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.66C>T	3.37:g.9594298G>A			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.I22	ENST00000287585.6	37	c.66	CCDS33691.1	3																																																																																			LHFPL4	-	pfam_Lipome_HGMIC_fus_partner-like		0.677	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	HGNC	protein_coding	OTTHUMT00000338298.1	G	NM_198560		9594298	-1	no_errors	ENST00000287585	ensembl	human	known	70_37	silent	SNP	1.000	A
LIN9	286826	genome.wustl.edu	37	1	226426770	226426770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:226426770C>A	ENST00000328205.5	-	12	1740	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	LIN9_ENST00000481685.1_Nonsense_Mutation_p.E364*|LIN9_ENST00000366801.1_Nonsense_Mutation_p.E348*	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	383					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGCTGAAATTCAATGCTGATG	0.353																																					Ovarian(197;1696 2974 11248 14117)												0													101.0	97.0	98.0					1																	226426770		2203	4300	6503	SO:0001587	stop_gained	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1195G>T	1.37:g.226426770C>A	ENSP00000329102:p.Glu399*		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Nonsense_Mutation	SNP	pfam_DIRP	p.E399*	ENST00000328205.5	37	c.1195	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.799155	0.96960	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.66	5.66	0.87406	.	0.097801	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	359;399;454;348;364	.	ENSP00000329102:E399X	E	-	1	0	LIN9	224493393	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.481000	0.81124	2.669000	0.90835	0.591000	0.81541	GAA	LIN9	-	NULL		0.353	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226426770	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LIPH	200879	genome.wustl.edu	37	3	185252685	185252685	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:185252685C>T	ENST00000296252.4	-	2	426	c.285G>A	c.(283-285)ttG>ttA	p.L95L	LIPH_ENST00000424591.2_Silent_p.L95L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	95					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACAGAGAGCAAACCCTTTA	0.433																																																	0													129.0	122.0	124.0					3																	185252685		2203	4300	6503	SO:0001819	synonymous_variant	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.285G>A	3.37:g.185252685C>T			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L95	ENST00000296252.4	37	c.285	CCDS3272.1	3																																																																																			LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.433	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	C			185252685	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	silent	SNP	1.000	T
LRP11	84918	genome.wustl.edu	37	6	150158587	150158587	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:150158587G>A	ENST00000239367.2	-	4	931	c.926C>T	c.(925-927)aCt>aTt	p.T309I	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Missense_Mutation_p.T54I	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	309	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCGTGAGCAAGTGTGCAAACA	0.502																																																	0													100.0	83.0	89.0					6																	150158587		2203	4300	6503	SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.926C>T	6.37:g.150158587G>A	ENSP00000239367:p.Thr309Ile		Q5VYC0|Q96SN6	Missense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.T309I	ENST00000239367.2	37	c.926	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	G	4.961	0.178578	0.09443	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	D;D	0.96073	-3.9;-3.9	5.32	-6.42	0.01932	.	1.088120	0.06913	N	0.808005	D	0.84524	0.5491	L	0.51914	1.62	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.73672	-0.3909	10	0.25751	T	0.34	-0.2783	9.5034	0.39031	0.1639:0.1089:0.6201:0.1071	.	309	Q86VZ4	LRP11_HUMAN	I	309;54	ENSP00000239367:T309I;ENSP00000440196:T54I	ENSP00000239367:T309I	T	-	2	0	LRP11	150200280	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.289000	0.18957	-1.188000	0.02705	-0.484000	0.04775	ACT	LRP11	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.502	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	G	NM_032832		150158587	-1	no_errors	ENST00000239367	ensembl	human	known	70_37	missense	SNP	0.000	A
LRP6	4040	genome.wustl.edu	37	12	12303967	12303967	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:12303967T>G	ENST00000261349.4	-	13	2873	c.2797A>C	c.(2797-2799)Acg>Ccg	p.T933P	LRP6_ENST00000543091.1_Missense_Mutation_p.T933P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	933	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGAAAGTCGTAGGAGCTTAA	0.423																																																	0													66.0	61.0	63.0					12																	12303967		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2797A>C	12.37:g.12303967T>G	ENSP00000261349:p.Thr933Pro		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T933P	ENST00000261349.4	37	c.2797	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297799	0.40694	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95518	-3.73;-3.73	5.32	4.15	0.48705	.	0.102023	0.41823	U	0.000820	D	0.90048	0.6892	N	0.19112	0.55	0.51233	D	0.999915	B;B	0.25486	0.076;0.127	B;B	0.26969	0.062;0.075	D	0.87534	0.2454	10	0.41790	T	0.15	.	11.3602	0.49638	0.0:0.0728:0.0:0.9271	.	933;933	F5H7J9;O75581	.;LRP6_HUMAN	P	933	ENSP00000261349:T933P;ENSP00000442472:T933P	ENSP00000261349:T933P	T	-	1	0	LRP6	12195234	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	3.114000	0.50383	2.009000	0.58944	0.482000	0.46254	ACG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	T			12303967	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	0.997	G
LRRC41	10489	genome.wustl.edu	37	1	46746151	46746151	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:46746151G>A	ENST00000343304.6	-	6	2123	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	613					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGAGAACCCGAGGCCTTCAG	0.567																																																	0													88.0	98.0	95.0					1																	46746151		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1838C>T	1.37:g.46746151G>A	ENSP00000343298:p.Ser613Leu		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S613L	ENST00000343304.6	37	c.1838	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080614	0.94050	.	.	ENSG00000132128	ENST00000343304	T	0.47869	0.83	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000006	T	0.58793	0.2147	N	0.24115	0.695	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.60515	-0.7248	10	0.56958	D	0.05	-20.1407	20.1472	0.98082	0.0:0.0:1.0:0.0	.	613;613	Q15345-3;Q15345	.;LRC41_HUMAN	L	613	ENSP00000343298:S613L	ENSP00000343298:S613L	S	-	2	0	LRRC41	46518738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.473000	0.73572	2.766000	0.95052	0.644000	0.83932	TCG	LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	G	NM_006369		46746151	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	1.000	A
MDGA2	161357	genome.wustl.edu	37	14	47314992	47314992	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:47314992G>A	ENST00000399232.2	-	16	3123	c.2759C>T	c.(2758-2760)gCa>gTa	p.A920V	MDGA2_ENST00000439988.3_Missense_Mutation_p.A989V|MDGA2_ENST00000399222.3_Missense_Mutation_p.A122V|MDGA2_ENST00000357362.3_Missense_Mutation_p.A691V|MDGA2_ENST00000426342.1_Missense_Mutation_p.A691V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	920	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCTTGTTTTGCACATTCTCC	0.313																																																	0													113.0	111.0	112.0					14																	47314992		1886	4110	5996	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2759C>T	14.37:g.47314992G>A	ENSP00000382178:p.Ala920Val		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.A989V	ENST00000399232.2	37	c.2966		14	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190367	0.58017	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.272984	0.25458	U	0.030533	T	0.02418	0.0074	N	0.12961	0.28	0.28929	N	0.891685	B	0.21225	0.053	B	0.33121	0.158	T	0.37056	-0.9722	10	0.48119	T	0.1	.	12.3704	0.55252	0.0826:0.0:0.9174:0.0	.	920	Q7Z553	MDGA2_HUMAN	V	920;691;989;122;691	ENSP00000400011:A920V;ENSP00000405456:A691V;ENSP00000382178:A989V;ENSP00000382168:A122V;ENSP00000349925:A691V	ENSP00000349925:A691V	A	-	2	0	MDGA2	46384742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.587000	0.53957	2.643000	0.89663	0.467000	0.42956	GCA	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47314992	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A
MDGA2	161357	genome.wustl.edu	37	14	47351300	47351300	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:47351300G>A	ENST00000399232.2	-	11	2520	c.2156C>T	c.(2155-2157)cCt>cTt	p.P719L	MDGA2_ENST00000439988.3_Missense_Mutation_p.P788L|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Missense_Mutation_p.P490L|MDGA2_ENST00000426342.1_Missense_Mutation_p.P490L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	719	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGGTGAGAGGAGTCAGTCG	0.299																																																	0													51.0	49.0	50.0					14																	47351300		1831	4089	5920	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2156C>T	14.37:g.47351300G>A	ENSP00000382178:p.Pro719Leu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.P788L	ENST00000399232.2	37	c.2363		14	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468852	0.84533	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.89	4.89	0.63831	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000089	T	0.67534	0.2903	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70425	-0.4875	10	0.62326	D	0.03	.	16.9821	0.86331	0.0:0.0:1.0:0.0	.	490;719	F6W3S7;Q7Z553	.;MDGA2_HUMAN	L	719;490;788;490	ENSP00000400011:P719L;ENSP00000405456:P490L;ENSP00000382178:P788L;ENSP00000349925:P490L	ENSP00000349925:P490L	P	-	2	0	MDGA2	46421050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.392000	0.97252	2.437000	0.82529	0.467000	0.42956	CCT	MDGA2	-	superfamily_Fibronectin_type3		0.299	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47351300	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116675500	116675500	+	Missense_Mutation	SNP	G	G	A	rs563883392	byFrequency	TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:116675500G>A	ENST00000281928.3	-	2	289	c.83C>T	c.(82-84)aCg>aTg	p.T28M	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	28						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTGATTCCCGTGAGTTCAGC	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0																0													78.0	77.0	77.0					12																	116675500		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.83C>T	12.37:g.116675500G>A	ENSP00000281928:p.Thr28Met		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.T28M	ENST00000281928.3	37	c.83	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882052	0.72294	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.79033	-1.23;-1.23	5.07	5.07	0.68467	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.56097	D	0.000024	D	0.88142	0.6357	M	0.75447	2.3	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.89324	0.3642	10	0.66056	D	0.02	.	18.4543	0.90714	0.0:0.0:1.0:0.0	.	28	Q71F56	MD13L_HUMAN	M	28;18	ENSP00000281928:T28M;ENSP00000448553:T18M	ENSP00000281928:T28M	T	-	2	0	MED13L	115159883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.352000	0.79861	0.561000	0.74099	ACG	MED13L	-	pfam_Mediator_Med13_N_met/fun		0.403	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	G			116675500	-1	no_errors	ENST00000281928	ensembl	human	known	70_37	missense	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9061666	9061666	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:9061666G>C	ENST00000397910.4	-	3	25983	c.25780C>G	c.(25780-25782)Ctc>Gtc	p.L8594V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8596	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGGGTGAGAAGTGCAGTC	0.488																																																	0													109.0	102.0	104.0					19																	9061666		2070	4215	6285	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25780C>G	19.37:g.9061666G>C	ENSP00000381008:p.Leu8594Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L8594V	ENST00000397910.4	37	c.25780	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.400	-0.122453	0.06795	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.4	-1.18	0.09617	.	.	.	.	.	T	0.21062	0.0507	L	0.29908	0.895	.	.	.	P	0.48694	0.914	P	0.50192	0.634	T	0.22941	-1.0202	8	0.87932	D	0	.	2.7486	0.05273	0.3397:0.2528:0.4075:0.0	.	8594	B5ME49	.	V	8594	ENSP00000381008:L8594V	ENSP00000381008:L8594V	L	-	1	0	MUC16	8922666	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.944000	0.01538	-0.193000	0.10415	0.450000	0.29827	CTC	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9061666	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
NBPF1	55672	genome.wustl.edu	37	1	16903865	16903865	+	Silent	SNP	T	T	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:16903865T>C	ENST00000430580.2	-	18	2738	c.1851A>G	c.(1849-1851)cgA>cgG	p.R617R	NBPF1_ENST00000287968.8_5'Flank|NBPF1_ENST00000432949.1_Silent_p.R75R|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	617						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTTGAACTGTCGCTCATTCC	0.537																																																	0													131.0	142.0	138.0					1																	16903865		1067	2330	3397	SO:0001819	synonymous_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1851A>G	1.37:g.16903865T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.537	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	T	NM_017940		16903865	-1	no_errors	ENST00000392963	ensembl	human	known	70_37	rna	SNP	0.002	C
NBPF3	84224	genome.wustl.edu	37	1	21807446	21807446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:21807446G>T	ENST00000318249.5	+	12	1755	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	NBPF3_ENST00000454000.2_Nonsense_Mutation_p.E399*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.E457*|NBPF3_ENST00000318220.6_Nonsense_Mutation_p.E413*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	469	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAAGAAGAGGAAGAAGACCA	0.468																																																	0													80.0	118.0	105.0					1																	21807446		2184	4299	6483	SO:0001587	stop_gained	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1405G>T	1.37:g.21807446G>T	ENSP00000316782:p.Glu469*		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.E469*	ENST00000318249.5	37	c.1405	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.689797	0.88735	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	.	.	.	0.573	0.573	0.17363	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	.	.	.	.	.	.	.	X	399;413;469;457;413	.	ENSP00000316739:E413X	E	+	1	0	NBPF3	21680033	0.002000	0.14202	0.016000	0.15963	0.155000	0.21991	-0.451000	0.06795	0.616000	0.30141	0.121000	0.15741	GAA	NBPF3	-	pfam_NBPF_dom		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		G	NM_032264		21807446	+1	no_errors	ENST00000318249	ensembl	human	known	70_37	nonsense	SNP	0.019	T
NOTCH1	4851	genome.wustl.edu	37	9	139399461	139399461	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr9:139399461C>T	ENST00000277541.6	-	26	4757	c.4682G>A	c.(4681-4683)tGt>tAt	p.C1561Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1561					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCTCCGCACAGTCCAGCCC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													15.0	22.0	20.0					9																	139399461		2176	4281	6457	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4682G>A	9.37:g.139399461C>T	ENSP00000277541:p.Cys1561Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1561Y	ENST00000277541.6	37	c.4682	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949210	0.73787	.	.	ENSG00000148400	ENST00000277541	D	0.97505	-4.41	4.08	4.08	0.47627	Notch domain (5);	0.000000	0.85682	U	0.000000	D	0.98532	0.9510	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99768	1.1023	10	0.87932	D	0	.	15.2556	0.73582	0.0:1.0:0.0:0.0	.	1561	P46531	NOTC1_HUMAN	Y	1561	ENSP00000277541:C1561Y	ENSP00000277541:C1561Y	C	-	2	0	NOTCH1	138519282	1.000000	0.71417	0.937000	0.37676	0.632000	0.37999	7.623000	0.83113	1.814000	0.52955	0.579000	0.79373	TGT	NOTCH1	-	superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139399461	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T
OPLAH	26873	genome.wustl.edu	37	8	145106962	145106962	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr8:145106962C>T	ENST00000426825.1	-	25	3560	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H	CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1160					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCGAAGCGGCGCAGGATGAC	0.751																																																	0													13.0	16.0	15.0					8																	145106962		1657	3668	5325	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3479G>A	8.37:g.145106962C>T	ENSP00000475943:p.Arg1160His		A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918497	0.52546	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.57	4.57	0.56435	.	0.236780	0.40302	N	0.001131	T	0.58250	0.2109	.	.	.	0.35141	D	0.768879	D	0.62365	0.991	P	0.58266	0.836	T	0.66135	-0.5999	7	0.30078	T	0.28	.	8.6715	0.34154	0.0:0.8941:0.0:0.1059	.	1160	O14841	OPLA_HUMAN	H	1160	.	ENSP00000412071:R1160H	R	-	2	0	OPLAH	145178950	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.519000	0.45546	2.096000	0.63516	0.643000	0.83706	CGC	OPLAH	-	-		0.751	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		C	NM_017570		145106962	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	1.000	T
PARK2	5071	genome.wustl.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	G	A	rs529808032		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:161969941G>A	ENST00000366898.1	-	9	1130	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	PARK2_ENST00000338468.3_Missense_Mutation_p.P152L|PARK2_ENST00000366896.1_Missense_Mutation_p.P194L|PARK2_ENST00000366897.1_Missense_Mutation_p.P315L|PARK2_ENST00000366892.1_Missense_Mutation_p.P343L|PARK2_ENST00000366894.1_Missense_Mutation_p.P152L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	343					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13445	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											63.0	65.0	64.0					6																	161969941		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1028C>T	6.37:g.161969941G>A	ENSP00000355865:p.Pro343Leu		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.P343L	ENST00000366898.1	37	c.1028	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599157	0.46318	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.72	4.86	0.63082	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.76002	2.32	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.976;0.996;0.99	D	0.89255	0.3593	10	0.10377	T	0.69	.	13.0206	0.58784	0.0744:0.0:0.9256:0.0	.	362;194;315;343;152	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	L	343;315;194;152;152;152;343	ENSP00000355865:P343L;ENSP00000355863:P315L;ENSP00000355862:P194L;ENSP00000355860:P152L;ENSP00000343589:P152L;ENSP00000355858:P343L	ENSP00000343589:P152L	P	-	2	0	PARK2	161889931	1.000000	0.71417	0.448000	0.26945	0.296000	0.27459	7.804000	0.85993	1.416000	0.47057	0.650000	0.86243	CCG	PARK2	-	pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin		0.637	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	G			161969941	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	missense	SNP	0.972	A
PCNXL2	80003	genome.wustl.edu	37	1	233372617	233372617	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:233372617G>A	ENST00000258229.9	-	9	2566	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PCNXL2_ENST00000430153.1_Missense_Mutation_p.R77C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	778						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGGTCCTGCGAGCCACCATC	0.527																																																	0													130.0	129.0	130.0					1																	233372617		1915	4142	6057	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2332C>T	1.37:g.233372617G>A	ENSP00000258229:p.Arg778Cys		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.R778C	ENST00000258229.9	37	c.2332	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478702	0.84747	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.66995	-0.24;-0.24	5.45	5.45	0.79879	.	.	.	.	.	T	0.71978	0.3404	L	0.27053	0.805	0.45227	D	0.998235	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.74097	-0.3775	9	0.72032	D	0.01	.	14.1733	0.65525	0.0:0.0:0.8512:0.1488	.	77;778	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	C	778;77	ENSP00000258229:R778C;ENSP00000394703:R77C	ENSP00000258229:R778C	R	-	1	0	PCNXL2	231439240	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	3.176000	0.50863	2.836000	0.97738	0.655000	0.94253	CGC	PCNXL2	-	NULL		0.527	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233372617	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	1.000	A
PEX5L	51555	genome.wustl.edu	37	3	179593161	179593161	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:179593161C>T	ENST00000467460.1	-	6	940	c.610G>A	c.(610-612)Gga>Aga	p.G204R	PEX5L_ENST00000476138.1_Missense_Mutation_p.G161R|PEX5L_ENST00000472994.1_Missense_Mutation_p.G145R|PEX5L_ENST00000485199.1_Missense_Mutation_p.G169R|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000464614.1_Missense_Mutation_p.G96R|PEX5L_ENST00000392649.3_Missense_Mutation_p.G96R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.G12R|PEX5L_ENST00000465751.1_Missense_Mutation_p.G180R|PEX5L_ENST00000263962.8_Missense_Mutation_p.G202R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	204					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.G204*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTTTTGATCCAGTTCTAGAT	0.378																																																	1	Substitution - Nonsense(1)	skin(1)											198.0	176.0	183.0					3																	179593161		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.610G>A	3.37:g.179593161C>T	ENSP00000419975:p.Gly204Arg		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G204R	ENST00000467460.1	37	c.610	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473293	0.26423	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.87491	-2.24;-2.24;-2.22;-2.26;-2.25;-2.22;-2.22;-2.26;-2.22	5.88	5.88	0.94601	.	0.276343	0.35772	N	0.002985	T	0.72423	0.3458	N	0.08118	0	0.36665	D	0.878168	B;B;B;B;B;B	0.33919	0.112;0.047;0.139;0.432;0.279;0.183	B;B;B;B;B;B	0.33521	0.039;0.027;0.025;0.165;0.086;0.039	T	0.75133	-0.3425	10	0.66056	D	0.02	-22.1714	5.5463	0.17065	0.1375:0.6375:0.1497:0.0753	.	145;180;96;202;169;204	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	204;202;169;202;96;12;161;92;145;96;180;12;12;193	ENSP00000419975:G204R;ENSP00000263962:G202R;ENSP00000418440:G169R;ENSP00000376420:G96R;ENSP00000418665:G12R;ENSP00000420555:G161R;ENSP00000418054:G145R;ENSP00000417270:G96R;ENSP00000419348:G180R	ENSP00000263962:G202R	G	-	1	0	PEX5L	181075855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.273000	0.43381	2.788000	0.95919	0.650000	0.86243	GGA	PEX5L	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179593161	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	1.000	T
PLCG2	5336	genome.wustl.edu	37	16	81927367	81927367	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr16:81927367G>A	ENST00000359376.3	+	12	1254	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	347	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTTACATCCGCTGCCTGCGC	0.587																																																	0													67.0	69.0	69.0					16																	81927367		2183	4287	6470	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1040G>A	16.37:g.81927367G>A	ENSP00000352336:p.Arg347His		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.R347H	ENST00000359376.3	37	c.1040	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025819	0.93518	.	.	ENSG00000197943	ENST00000359376	T	0.64085	-0.08	3.71	3.71	0.42584	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.146689	0.51477	D	0.000092	T	0.77205	0.4096	M	0.85859	2.78	0.80722	D	1	D;D	0.54047	0.964;0.961	P;P	0.56216	0.456;0.794	D	0.83576	0.0115	10	0.87932	D	0	.	16.357	0.83239	0.0:0.0:1.0:0.0	.	214;347	B4E3H3;P16885	.;PLCG2_HUMAN	H	347	ENSP00000352336:R347H	ENSP00000352336:R347H	R	+	2	0	PLCG2	80484868	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	9.618000	0.98365	2.034000	0.60081	0.467000	0.42956	CGC	PLCG2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	G			81927367	+1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHA8P1	51054	genome.wustl.edu	37	12	45568077	45568077	+	RNA	SNP	A	A	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:45568077A>T	ENST00000256692.5	-	0	608					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGACACACCAGTTGTGGTCA	0.398																																																	0													203.0	199.0	200.0					12																	45568077		2203	4300	6503			51054			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568077A>T				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-		0.398	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	A	NR_037144		45568077	-1	no_errors	ENST00000256692	ensembl	human	known	70_37	rna	SNP	0.778	T
PPM1M	132160	genome.wustl.edu	37	3	52281193	52281193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:52281193delC	ENST00000296487.4	+	3	467	c.63delC	c.(61-63)atcfs	p.I21fs	PPM1M_ENST00000409502.3_Intron|PPM1M_ENST00000323588.4_Frame_Shift_Del_p.I21fs|PPM1M_ENST00000457351.2_Frame_Shift_Del_p.I182fs			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	21	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		AAAAGGGCATCAGGGCAGAAG	0.587																																					NSCLC(151;810 2688 34365 49863)												0													155.0	114.0	128.0					3																	52281193		2203	4300	6503	SO:0001589	frameshift_variant	132160			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.63delC	3.37:g.52281193delC	ENSP00000296487:p.Ile21fs		Q8N8J9|Q96DB8	Frame_Shift_Del	DEL	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R183fs	ENST00000296487.4	37	c.546		3																																																																																			PPM1M	-	superfamily_PP2C-like,smart_PP2C-like		0.587	PPM1M-001	KNOWN	basic	protein_coding	PPM1M	HGNC	protein_coding	OTTHUMT00000329230.2	C	NM_144641		52281193	+1	no_errors	ENST00000457351	ensembl	human	known	70_37	frame_shift_del	DEL	0.812	-
PRLHR	2834	genome.wustl.edu	37	10	120353959	120353959	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:120353959G>A	ENST00000369169.1	-	1	797	c.798C>T	c.(796-798)gcC>gcT	p.A266A	PRLHR_ENST00000239032.2_Silent_p.A266A			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	266					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGTCCCAGTCGGCCTGGCTCT	0.672																																																	0													20.0	22.0	21.0					10																	120353959		2186	4286	6472	SO:0001819	synonymous_variant	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.798C>T	10.37:g.120353959G>A			O75194|Q502U8|Q5VXR9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A266	ENST00000369169.1	37	c.798	CCDS7606.1	10																																																																																			PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt		0.672	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	G	NM_004248		120353959	-1	no_errors	ENST00000239032	ensembl	human	known	70_37	silent	SNP	0.204	A
PRR5L	79899	genome.wustl.edu	37	11	36484190	36484190	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:36484190C>T	ENST00000378867.3	+	10	1366	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.S264S|PRR5L_ENST00000530639.1_Silent_p.S337S	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	337					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGCAGTGCTCCAGTGAGCCCA	0.667																																																	0													31.0	31.0	31.0					11																	36484190		2200	4297	6497	SO:0001819	synonymous_variant	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1011C>T	11.37:g.36484190C>T			A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	pfam_HbrB	p.S337	ENST00000378867.3	37	c.1011	CCDS31463.1	11																																																																																			PRR5L	-	NULL		0.667	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	C	NM_024841		36484190	+1	no_errors	ENST00000378867	ensembl	human	known	70_37	silent	SNP	1.000	T
PRSS38	339501	genome.wustl.edu	37	1	228003831	228003831	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:228003831C>T	ENST00000366757.3	+	2	213	c.189C>T	c.(187-189)ggC>ggT	p.G63G		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTGGGCGGCGTCCCTGCGC	0.672																																																	0													61.0	69.0	66.0					1																	228003831		2203	4299	6502	SO:0001819	synonymous_variant	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.189C>T	1.37:g.228003831C>T			Q7RTY6	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G63	ENST00000366757.3	37	c.189	CCDS1563.1	1																																																																																			PRSS38	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.672	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	C	NM_183062		228003831	+1	no_errors	ENST00000366757	ensembl	human	known	70_37	silent	SNP	0.001	T
RASA3	22821	genome.wustl.edu	37	13	114762093	114762093	+	Silent	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr13:114762093G>C	ENST00000334062.7	-	21	2176	c.2055C>G	c.(2053-2055)gtC>gtG	p.V685V	RASA3_ENST00000389544.4_Silent_p.V653V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	685					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACGGGTGGTAGACGGTGAGGC	0.637																																																	0													144.0	108.0	120.0					13																	114762093		2203	4300	6503	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2055C>G	13.37:g.114762093G>C			A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.V685	ENST00000334062.7	37	c.2055	CCDS32016.1	13																																																																																			RASA3	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	G	NM_007368		114762093	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	silent	SNP	1.000	C
RHOV	171177	genome.wustl.edu	37	15	41165905	41165905	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:41165905C>G	ENST00000220507.4	-	2	393	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCCCAGAGCTCAATGCGCACC	0.662																																					Pancreas(13;103 483 3593 12123 44457)												0													75.0	83.0	80.0					15																	41165905		2203	4300	6503	SO:0001583	missense	171177			AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.244G>C	15.37:g.41165905C>G	ENSP00000220507:p.Glu82Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E82Q	ENST00000220507.4	37	c.244	CCDS10068.1	15	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346686	0.11126	.	.	ENSG00000104140	ENST00000220507	T	0.76578	-1.03	4.97	4.97	0.65823	Small GTP-binding protein domain (1);	0.051201	0.85682	D	0.000000	T	0.49609	0.1567	N	0.00815	-1.16	0.34381	D	0.693119	B	0.12013	0.005	B	0.11329	0.006	T	0.58352	-0.7651	10	0.36615	T	0.2	.	13.0668	0.59038	0.0:0.698:0.3019:0.0	.	82	Q96L33	RHOV_HUMAN	Q	82	ENSP00000220507:E82Q	ENSP00000220507:E82Q	E	-	1	0	RHOV	38953197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.713000	0.61895	2.278000	0.76064	0.557000	0.71058	GAG	RHOV	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.662	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOV	HGNC	protein_coding	OTTHUMT00000252442.1	C			41165905	-1	no_errors	ENST00000220507	ensembl	human	known	70_37	missense	SNP	1.000	G
RNASE6	6039	genome.wustl.edu	37	14	21250155	21250155	+	Silent	SNP	C	C	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:21250155C>A	ENST00000304677.2	+	2	590	c.297C>A	c.(295-297)gtC>gtA	p.V99V	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	99					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		CAAAGCCTGTCAACATGACTG	0.502																																																	0													147.0	141.0	143.0					14																	21250155		2203	4300	6503	SO:0001819	synonymous_variant	6039			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.297C>A	14.37:g.21250155C>A				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.V99	ENST00000304677.2	37	c.297	CCDS9558.1	14																																																																																			RNASE6	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA		0.502	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE6	HGNC	protein_coding	OTTHUMT00000073750.2	C			21250155	+1	no_errors	ENST00000304677	ensembl	human	known	70_37	silent	SNP	0.000	A
RPIA	22934	genome.wustl.edu	37	2	88991297	88991297	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:88991297C>T	ENST00000283646.4	+	1	136	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	27					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				gcgcggcctccggcggAGGAG	0.761																																																	0													6.0	9.0	8.0					2																	88991297		1653	3749	5402	SO:0001819	synonymous_variant	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.81C>T	2.37:g.88991297C>T			Q541P9|Q96BJ6	Silent	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.S27	ENST00000283646.4	37	c.81	CCDS2004.2	2																																																																																			RPIA	-	NULL		0.761	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	C			88991297	+1	no_errors	ENST00000283646	ensembl	human	known	70_37	silent	SNP	0.001	T
RYR2	6262	genome.wustl.edu	37	1	237789071	237789071	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:237789071G>C	ENST00000366574.2	+	40	6450	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E2043Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E2029Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2045	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGCAAGCAGAAAAACCAGT	0.443																																																	0													95.0	91.0	92.0					1																	237789071		1911	4122	6033	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6133G>C	1.37:g.237789071G>C	ENSP00000355533:p.Glu2045Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2043Q	ENST00000366574.2	37	c.6127	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837749	0.50951	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72725	-0.68;-0.68;-0.68	5.47	4.5	0.54988	.	0.283075	0.28067	U	0.016739	T	0.69024	0.3065	M	0.72479	2.2	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.67542	-0.5644	10	0.44086	T	0.13	.	14.0797	0.64912	0.0:0.1503:0.8497:0.0	.	2045	Q92736	RYR2_HUMAN	Q	2045;2043;2029	ENSP00000355533:E2045Q;ENSP00000353174:E2043Q;ENSP00000443798:E2029Q	ENSP00000353174:E2043Q	E	+	1	0	RYR2	235855694	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	5.187000	0.65087	2.575000	0.86900	0.561000	0.74099	GAA	RYR2	-	NULL		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237789071	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.997	C
S1PR5	53637	genome.wustl.edu	37	19	10625529	10625529	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:10625529C>T	ENST00000439028.3	-	2	284	c.159G>A	c.(157-159)gaG>gaA	p.E53E	S1PR5_ENST00000333430.4_Silent_p.E53E	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	53					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.E53D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CGGCTAGATTCTCTAGCACGA	0.682																																																	1	Substitution - Missense(1)	large_intestine(1)											38.0	31.0	33.0					19																	10625529		2189	4296	6485	SO:0001819	synonymous_variant	53637			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.159G>A	19.37:g.10625529C>T			Q6NW11	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.E53	ENST00000439028.3	37	c.159	CCDS12240.1	19																																																																																			S1PR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	C	NM_030760		10625529	-1	no_errors	ENST00000333430	ensembl	human	known	70_37	silent	SNP	1.000	T
SBDS	51119	genome.wustl.edu	37	7	66460333	66460333	+	Silent	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:66460333C>T	ENST00000246868.2	-	1	255	c.72G>A	c.(70-72)ggG>ggA	p.G24G	TYW1_ENST00000491969.1_3'UTR|TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	24					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CGAAGCGCTTCCCGGCACGCT	0.637			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													64.0	60.0	61.0					7																	66460333		2203	4300	6503	SO:0001819	synonymous_variant	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.72G>A	7.37:g.66460333C>T			A8K0P4|Q96FX0|Q9NV53	Silent	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.G24	ENST00000246868.2	37	c.72	CCDS5537.1	7																																																																																			SBDS	-	pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS		0.637	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	C	NM_016038		66460333	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	silent	SNP	0.998	T
SCN5A	6331	genome.wustl.edu	37	3	38592173	38592173	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:38592173C>T	ENST00000333535.4	-	28	5839	c.5690G>A	c.(5689-5691)cGg>cAg	p.R1897Q	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1897Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1896Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1864Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1879Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1879Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1896Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1897	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCTTGCGCCGGAGTGTGGT	0.582																																																	0													170.0	186.0	181.0					3																	38592173		2123	4212	6335	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5690G>A	3.37:g.38592173C>T	ENSP00000328968:p.Arg1897Gln		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1897Q	ENST00000333535.4	37	c.5690	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614744	0.87359	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96041	-3.8;-3.82;-3.82;-3.87;-3.82;-3.8;-3.82;-3.89;-3.87;-3.87	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	D	0.96731	0.8933	M	0.68593	2.085	0.47659	D	0.999488	P;D;P;D;P;P	0.76494	0.896;0.999;0.949;0.982;0.945;0.784	B;D;B;P;P;B	0.72625	0.266;0.978;0.432;0.728;0.636;0.227	D	0.96127	0.9089	10	0.51188	T	0.08	.	11.6214	0.51119	0.0:0.9186:0.0:0.0814	.	1843;1864;1879;1897;1896;1897	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	1879;1896;1897;1843;1896;1879;1897;1864;1843;1843	ENSP00000398962:R1879Q;ENSP00000398266:R1896Q;ENSP00000410257:R1897Q;ENSP00000388797:R1843Q;ENSP00000397915:R1896Q;ENSP00000416634:R1879Q;ENSP00000328968:R1897Q;ENSP00000399524:R1864Q;ENSP00000403355:R1843Q;ENSP00000413996:R1843Q	ENSP00000328968:R1897Q	R	-	2	0	SCN5A	38567177	0.676000	0.27567	0.998000	0.56505	0.997000	0.91878	4.826000	0.62715	2.525000	0.85131	0.591000	0.81541	CGG	SCN5A	-	NULL		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38592173	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	T
SFMBT2	57713	genome.wustl.edu	37	10	7423844	7423844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:7423844G>C	ENST00000361972.4	-	2	107	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SFMBT2_ENST00000397160.3_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000379713.3_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000379711.2_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.S6*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	6					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATTGGAAGCTGACAAAGTGCT	0.403																																																	0													118.0	111.0	113.0					10																	7423844		2203	4300	6503	SO:0001587	stop_gained	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.17C>G	10.37:g.7423844G>C	ENSP00000355109:p.Ser6*		A7MD09|Q9HCF5	Nonsense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.S6*	ENST00000361972.4	37	c.17	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859830	0.91433	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	.	.	.	5.41	5.41	0.78517	.	0.765891	0.10900	N	0.621722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.7862	0.69806	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000355109:S6X	S	-	2	0	SFMBT2	7463850	0.817000	0.29147	0.022000	0.16811	0.029000	0.11900	4.693000	0.61753	2.553000	0.86117	0.650000	0.86243	TCA	SFMBT2	-	NULL		0.403	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	G	NM_001029880		7423844	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	nonsense	SNP	0.049	C
SEC61A2	55176	genome.wustl.edu	37	10	12203080	12203080	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:12203080C>G	ENST00000298428.9	+	10	1216	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	SEC61A2_ENST00000304267.8_Missense_Mutation_p.S376C|SEC61A2_ENST00000379020.4_Missense_Mutation_p.S310C|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.S354C	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	376					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GCATTCTTCTCTAAGACATGG	0.423																																																	0													188.0	145.0	160.0					10																	12203080		2203	4300	6503	SO:0001583	missense	55176			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1127C>G	10.37:g.12203080C>G	ENSP00000298428:p.Ser376Cys		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.S376C	ENST00000298428.9	37	c.1127	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571115	0.86542	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000004	D	0.90338	0.6977	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	D;D;D	0.91635	0.976;0.999;0.999	D	0.93260	0.6642	9	0.87932	D	0	-11.7642	18.8446	0.92200	0.0:1.0:0.0:0.0	.	354;376;376	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	C	354;376;376;310;124	.	ENSP00000298428:S376C	S	+	2	0	SEC61A2	12243086	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	TCT	SEC61A2	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha		0.423	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	C	NM_018144		12203080	+1	no_errors	ENST00000298428	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC18B1	116843	genome.wustl.edu	37	6	133100529	133100529	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:133100529C>T	ENST00000275227.4	-	7	769	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	SLC18B1_ENST00000538764.1_Missense_Mutation_p.E99K|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AATGAGTGTTCACCTGGATCA	0.368																																																	0													133.0	130.0	131.0					6																	133100529		2203	4300	6503	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.673G>A	6.37:g.133100529C>T	ENSP00000275227:p.Glu225Lys		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E225K	ENST00000275227.4	37	c.673	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066875	0.07273	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.56776	0.44;0.44	5.07	-3.54	0.04653	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.654282	0.16974	N	0.191984	T	0.03011	0.0089	N	0.00387	-1.565	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.35251	-0.9796	10	0.02654	T	1	-1.2883	6.8059	0.23777	0.0:0.2285:0.2489:0.5227	.	99;225	B7Z1S5;Q6NT16	.;CF192_HUMAN	K	225;99	ENSP00000275227:E225K;ENSP00000444098:E99K	ENSP00000275227:E225K	E	-	1	0	C6orf192	133142222	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-0.352000	0.07701	-0.871000	0.04042	-0.311000	0.09066	GAA	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.368	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133100529	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	missense	SNP	0.000	T
SMARCC1	6599	genome.wustl.edu	37	3	47703996	47703996	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:47703996C>G	ENST00000254480.5	-	20	2105	c.1986G>C	c.(1984-1986)ttG>ttC	p.L662F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	662	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGGGAAGTCTCAAAAAGTGGA	0.473																																																	0													103.0	92.0	96.0					3																	47703996		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1986G>C	3.37:g.47703996C>G	ENSP00000254480:p.Leu662Phe		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.L662F	ENST00000254480.5	37	c.1986	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289566	0.80914	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.04	5.04	0.67666	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000001	T	0.62258	0.2413	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.65768	-0.6088	10	0.87932	D	0	-10.281	13.4775	0.61316	0.0:0.8431:0.1569:0.0	.	662	Q92922	SMRC1_HUMAN	F	662	ENSP00000254480:L662F	ENSP00000254480:L662F	L	-	3	2	SMARCC1	47679000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.824000	0.55723	2.490000	0.84030	0.591000	0.81541	TTG	SMARCC1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.473	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	C			47703996	-1	no_errors	ENST00000254480	ensembl	human	known	70_37	missense	SNP	1.000	G
SPDYE3	441272	genome.wustl.edu	37	7	99909547	99909547	+	Missense_Mutation	SNP	C	C	T	rs200472341		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:99909547C>T	ENST00000332397.6	+	4	903	c.719C>T	c.(718-720)tCg>tTg	p.S240L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CGGCGAGTGTCGCTCGTGCTC	0.577																																																	0													7.0	9.0	8.0					7																	99909547		1279	3334	4613	SO:0001583	missense	441272			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.719C>T	7.37:g.99909547C>T	ENSP00000329565:p.Ser240Leu		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S240L	ENST00000332397.6	37	c.719	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	-	8.254	0.809569	0.16537	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	2.506560	0.02226	N	0.064459	T	0.36496	0.0969	L	0.34521	1.04	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36335	-0.9752	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	L	240	.	ENSP00000329565:S240L	S	+	2	0	SPDYE3	99747483	0.416000	0.25424	0.019000	0.16419	0.019000	0.09904	-0.098000	0.11024	0.259000	0.21709	0.264000	0.19307	TCG	SPDYE3	-	NULL		0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	C	NM_001004351		99909547	+1	no_errors	ENST00000332397	ensembl	human	known	70_37	missense	SNP	0.022	T
SYNE2	23224	genome.wustl.edu	37	14	64491095	64491095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:64491095C>T	ENST00000344113.4	+	39	5970	c.5758C>T	c.(5758-5760)Cag>Tag	p.Q1920*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1920*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q1920*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1920					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCGTGGGTCAGGAATTCGA	0.448																																																	0													92.0	92.0	92.0					14																	64491095		1966	4157	6123	SO:0001587	stop_gained	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5758C>T	14.37:g.64491095C>T	ENSP00000341781:p.Gln1920*		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q1920*	ENST00000344113.4	37	c.5758	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	43	9.992847	0.99313	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.14	4.23	0.50019	.	0.131137	0.34362	N	0.004040	.	.	.	.	.	.	0.44432	D	0.997355	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.8218	0.40887	0.1574:0.6908:0.1518:0.0	.	.	.	.	X	1920	.	ENSP00000261678:Q1920X	Q	+	1	0	SYNE2	63560848	0.998000	0.40836	0.370000	0.25965	0.143000	0.21401	2.183000	0.42565	1.107000	0.41642	0.585000	0.79938	CAG	SYNE2	-	NULL		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64491095	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	nonsense	SNP	0.477	T
TBXA2R	6915	genome.wustl.edu	37	19	3595827	3595827	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:3595827G>A	ENST00000375190.4	-	3	1284	c.891C>T	c.(889-891)gcC>gcT	p.A297A	TBXA2R_ENST00000589966.1_Missense_Mutation_p.H168Y|TBXA2R_ENST00000411851.3_Silent_p.A297A|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	297					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGTTCCAGGTGGCCACGCGCA	0.677																																																	0													24.0	29.0	28.0					19																	3595827		2187	4279	6466	SO:0001819	synonymous_variant	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.891C>T	19.37:g.3595827G>A			O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt	p.H168Y	ENST00000375190.4	37	c.502	CCDS42467.1	19																																																																																			TBXA2R	-	NULL		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	G			3595827	-1	no_errors	ENST00000589966	ensembl	human	putative	70_37	missense	SNP	1.000	A
THOC2	57187	genome.wustl.edu	37	X	122745309	122745309	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:122745309C>T	ENST00000245838.8	-	37	4767	c.4736G>A	c.(4735-4737)gGa>gAa	p.G1579E	THOC2_ENST00000355725.4_Missense_Mutation_p.G1579E|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1464E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1579	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCTTCCTTTCCTCCTGAACT	0.353																																																	0													172.0	159.0	163.0					X																	122745309		1851	4073	5924	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4736G>A	X.37:g.122745309C>T	ENSP00000245838:p.Gly1579Glu		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.G1579E	ENST00000245838.8	37	c.4736	CCDS43988.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.184490|2.184490	0.38609|0.38609	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.086593	.|0.48767	.|N	.|0.000179	T|T	0.48519|0.48519	0.1504|0.1504	L|L	0.32530|0.32530	0.975|0.975	0.53005|0.53005	D|D	0.999968|0.999968	.|D	.|0.54047	.|0.964	.|P	.|0.47118	.|0.538	T|T	0.34750|0.34750	-0.9816|-0.9816	5|9	.|0.12430	.|T	.|0.62	-3.2159|-3.2159	18.587|18.587	0.91194|0.91194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1579	.|Q8NI27	.|THOC2_HUMAN	K|E	175;374|1579;72;1579;168;1464	.|.	.|ENSP00000245838:G1579E	E|G	-|-	1|2	0|0	THOC2|THOC2	122572990|122572990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.763000|3.763000	0.55257|0.55257	2.433000|2.433000	0.82419|0.82419	0.544000|0.544000	0.68410|0.68410	GAA|GGA	THOC2	-	NULL		0.353	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	C			122745309	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123838977	123838977	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:123838977A>T	ENST00000371130.3	-	5	964	c.901T>A	c.(901-903)Tcc>Acc	p.S301T	TENM1_ENST00000422452.2_Missense_Mutation_p.S301T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	301	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCAGGTCGGGAAAAGGTGCTT	0.527																																																	0													160.0	147.0	151.0					X																	123838977		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.901T>A	X.37:g.123838977A>T	ENSP00000360171:p.Ser301Thr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S301T	ENST00000371130.3	37	c.901	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536439	0.65085	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.40225	1.04;1.04	5.69	5.69	0.88448	Teneurin intracellular, N-terminal (2);	0.067231	0.64402	D	0.000008	T	0.35998	0.0951	L	0.38953	1.18	0.47308	D	0.99938	B;B;B	0.33841	0.025;0.248;0.428	B;B;B	0.32762	0.044;0.079;0.152	T	0.21586	-1.0241	10	0.56958	D	0.05	.	14.9176	0.70810	1.0:0.0:0.0:0.0	.	301;301;301	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	301	ENSP00000360171:S301T;ENSP00000403954:S301T	ENSP00000360171:S301T	S	-	1	0	ODZ1	123666658	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.423000	0.52756	1.905000	0.55150	0.425000	0.28330	TCC	TENM1	-	pfam_Ten_N		0.527	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	A	NM_014253		123838977	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM53	79639	genome.wustl.edu	37	1	45120220	45120220	+	3'UTR	SNP	G	G	C			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:45120220G>C	ENST00000372237.3	-	0	1008				TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_3'UTR|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGGTGAGATGGAGCAATGGCC	0.547																																																	0													85.0	92.0	89.0					1																	45120220		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.*11C>G	1.37:g.45120220G>C			B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	RNA	SNP	-	NULL	ENST00000372237.3	37	NULL	CCDS511.1	1																																																																																			TMEM53	-	-		0.547	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM53	HGNC	protein_coding	OTTHUMT00000021599.1	G	NM_024587		45120220	-1	no_errors	ENST00000468117	ensembl	human	known	70_37	rna	SNP	0.003	C
TRPC1	7220	genome.wustl.edu	37	3	142443466	142443466	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:142443466C>T	ENST00000476941.1	+	1	551	c.65C>T	c.(64-66)tCt>tTt	p.S22F	TRPC1_ENST00000273482.6_Missense_Mutation_p.S22F	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	22					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctgccttcctctccatcctct	0.642																																																	0													81.0	73.0	76.0					3																	142443466		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.65C>T	3.37:g.142443466C>T	ENSP00000419313:p.Ser22Phe		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S22F	ENST00000476941.1	37	c.65	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970368	0.74246	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79940	-1.01;-1.32	3.43	3.43	0.39272	.	0.630732	0.16470	N	0.213026	T	0.58192	0.2105	N	0.08118	0	0.29622	N	0.846083	P;P	0.43352	0.704;0.804	B;B	0.32342	0.068;0.144	T	0.62918	-0.6752	10	0.72032	D	0.01	-0.977	10.645	0.45615	0.0:1.0:0.0:0.0	.	22;22	P48995;P48995-2	TRPC1_HUMAN;.	F	22	ENSP00000419313:S22F;ENSP00000273482:S22F	ENSP00000273482:S22F	S	+	2	0	TRPC1	143926156	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.215000	0.71742	0.536000	0.68110	TCT	TRPC1	-	NULL		0.642	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142443466	+1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPC1	7220	genome.wustl.edu	37	3	142443468	142443468	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:142443468C>T	ENST00000476941.1	+	1	553	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P23S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	23					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						gccttcctctccatcctcttc	0.637																																																	0													83.0	75.0	78.0					3																	142443468		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.67C>T	3.37:g.142443468C>T	ENSP00000419313:p.Pro23Ser		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P23S	ENST00000476941.1	37	c.67	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036045	0.19590	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79247	-0.86;-1.25	3.43	1.63	0.23807	.	0.369057	0.30134	N	0.010335	T	0.53061	0.1773	N	0.08118	0	0.26787	N	0.969486	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.42085	-0.9472	10	0.40728	T	0.16	-0.477	5.5735	0.17210	0.0:0.7446:0.0:0.2554	.	23;23	P48995;P48995-2	TRPC1_HUMAN;.	S	23	ENSP00000419313:P23S;ENSP00000273482:P23S	ENSP00000273482:P23S	P	+	1	0	TRPC1	143926158	.	.	1.000000	0.80357	0.914000	0.54420	.	.	0.458000	0.26988	-0.335000	0.08231	CCA	TRPC1	-	NULL		0.637	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142443468	+1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T
TP63	8626	genome.wustl.edu	37	3	189608648	189608648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:189608648C>T	ENST00000264731.3	+	13	1812	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	TP63_ENST00000456148.1_Nonsense_Mutation_p.Q477*|TP63_ENST00000354600.5_Nonsense_Mutation_p.Q481*|TP63_ENST00000382063.4_Nonsense_Mutation_p.Q490*|TP63_ENST00000392463.2_Intron|TP63_ENST00000440651.2_Nonsense_Mutation_p.Q571*|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000449992.1_Nonsense_Mutation_p.Q396*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	575	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACCATCTATCAGATTGAGCA	0.443										HNSCC(45;0.13)																																							0													110.0	99.0	103.0					3																	189608648		2203	4300	6503	SO:0001587	stop_gained	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1723C>T	3.37:g.189608648C>T	ENSP00000264731:p.Gln575*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.Q575*	ENST00000264731.3	37	c.1723	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.179129	0.98118	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3391	19.3475	0.94370	0.0:1.0:0.0:0.0	.	.	.	.	X	575;571;490;481;396;477	.	.	Q	+	1	0	TP63	191091342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.429000	0.80309	2.816000	0.96949	0.563000	0.77884	CAG	TP63	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.443	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189608648	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179412236	179412236	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:179412236G>T	ENST00000591111.1	-	289	89418	c.89194C>A	c.(89194-89196)Ctc>Atc	p.L29732I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31373I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28805I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22500I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22433I|TTN_ENST00000460472.2_Missense_Mutation_p.L22308I			Q8WZ42	TITIN_HUMAN	titin	29732	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTGTGAGATGAGTGACT	0.388																																																	0													64.0	61.0	62.0					2																	179412236		1881	4117	5998	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89194C>A	2.37:g.179412236G>T	ENSP00000465570:p.Leu29732Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L28805I	ENST00000591111.1	37	c.86413		2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337774	0.60963	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90508	0.7026	H	0.95504	3.68	0.58432	D	0.999995	B;B;B;B	0.23442	0.085;0.085;0.085;0.085	B;B;B;B	0.26693	0.072;0.072;0.072;0.072	D	0.89652	0.3870	9	0.87932	D	0	.	16.878	0.86057	0.0:0.0:0.8708:0.1292	.	22308;22433;22500;29732	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28805;22308;22500;22433;22305	ENSP00000343764:L28805I;ENSP00000434586:L22308I;ENSP00000340554:L22500I;ENSP00000352154:L22433I	ENSP00000340554:L22500I	L	-	1	0	TTN	179120482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	1.548000	0.49413	0.655000	0.94253	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179412236	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179458767	179458767	+	Silent	SNP	A	A	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:179458767A>G	ENST00000591111.1	-	247	53654	c.53430T>C	c.(53428-53430)cgT>cgC	p.R17810R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.R19451R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.R16883R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.R10578R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.R10511R|TTN_ENST00000460472.2_Silent_p.R10386R			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGAATCTGAACGTTTGGCCT	0.413																																																	0													183.0	179.0	180.0					2																	179458767		2021	4192	6213	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53430T>C	2.37:g.179458767A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R16883	ENST00000591111.1	37	c.50649		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179458767	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.452	G
TYK2	7297	genome.wustl.edu	37	19	10468442	10468442	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:10468442C>T	ENST00000525621.1	-	17	2945	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	TYK2_ENST00000529370.1_Missense_Mutation_p.E822K|TYK2_ENST00000264818.6_Missense_Mutation_p.E822K|TYK2_ENST00000524462.1_Missense_Mutation_p.E637K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	822	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATACCTCGGAGGGACTG	0.617																																																	0													19.0	19.0	19.0					19																	10468442		2202	4296	6498	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2464G>A	19.37:g.10468442C>T	ENSP00000431885:p.Glu822Lys		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E822K	ENST00000525621.1	37	c.2464	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469106	0.63625	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.76	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	D	0.89518	0.6738	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.974	D	0.87603	0.2498	10	0.28530	T	0.3	-33.425	15.3023	0.73962	0.0:1.0:0.0:0.0	.	822;822	E9PPF2;P29597	.;TYK2_HUMAN	K	637;822;822;569;822	ENSP00000433203:E637K;ENSP00000431885:E822K;ENSP00000264818:E822K;ENSP00000432728:E822K	ENSP00000264818:E822K	E	-	1	0	TYK2	10329442	1.000000	0.71417	0.944000	0.38274	0.066000	0.16364	6.920000	0.75799	2.465000	0.83290	0.655000	0.94253	GAG	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10468442	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.998	T
UCMA	221044	genome.wustl.edu	37	10	13275614	13275614	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:13275614G>A	ENST00000378681.3	-	3	216	c.144C>T	c.(142-144)ttC>ttT	p.F48F	UCMA_ENST00000463405.2_Silent_p.F26F	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	48					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATTCCTGCATGAAAATCTTCT	0.592																																																	0													77.0	79.0	78.0					10																	13275614		2203	4300	6503	SO:0001819	synonymous_variant	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.144C>T	10.37:g.13275614G>A				Silent	SNP	NULL	p.F48	ENST00000378681.3	37	c.144	CCDS31147.1	10																																																																																			UCMA	-	NULL		0.592	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13275614	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	silent	SNP	1.000	A
UFC1	51506	genome.wustl.edu	37	1	161128205	161128205	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:161128205G>A	ENST00000368003.5	+	6	673	c.427G>A	c.(427-429)Ggt>Agt	p.G143S	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000289865.8_5'Flank|USP21_ENST00000368001.1_5'Flank|USP21_ENST00000368002.3_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	143					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATTGCAGCTGGGTCCATGGCT	0.478																																																	0													108.0	110.0	109.0					1																	161128205		2203	4300	6503	SO:0001583	missense	51506			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.427G>A	1.37:g.161128205G>A	ENSP00000356982:p.Gly143Ser		A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1	p.G143S	ENST00000368003.5	37	c.427	CCDS1220.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384968	0.82792	.	.	ENSG00000143222	ENST00000368003	T	0.46063	0.88	4.42	4.42	0.53409	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.86805	2.84	0.80722	D	1	P	0.48162	0.906	D	0.63957	0.92	T	0.69401	-0.5155	10	0.72032	D	0.01	-4.3483	15.9662	0.79974	0.0:0.0:1.0:0.0	.	143	Q9Y3C8	UFC1_HUMAN	S	143	ENSP00000356982:G143S	ENSP00000356982:G143S	G	+	1	0	UFC1	159394829	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.874000	0.87199	2.281000	0.76405	0.561000	0.74099	GGT	UFC1	-	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1		0.478	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFC1	HGNC	protein_coding	OTTHUMT00000080810.1	G	NM_016406		161128205	+1	no_errors	ENST00000368003	ensembl	human	known	70_37	missense	SNP	1.000	A
USPL1	10208	genome.wustl.edu	37	13	31205523	31205523	+	Silent	SNP	G	G	A			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135.0	135.0	135.0					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A
VPS13C	54832	genome.wustl.edu	37	15	62283886	62283886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:62283886G>T	ENST00000261517.5	-	17	1542	c.1469C>A	c.(1468-1470)tCa>tAa	p.S490*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S447*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S490*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S447*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGAATCAATGATTCTTCGTC	0.343																																																	0													150.0	156.0	154.0					15																	62283886		2203	4300	6503	SO:0001587	stop_gained	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1469C>A	15.37:g.62283886G>T	ENSP00000261517:p.Ser490*			Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S490*	ENST00000261517.5	37	c.1469	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	40	8.027543	0.98616	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.78	5.78	0.91487	.	0.471229	0.22940	N	0.053786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2413	0.59997	0.0724:0.0:0.9276:0.0	.	.	.	.	X	447;490;490;490	.	ENSP00000249837:S447X	S	-	2	0	VPS13C	60071178	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	2.733000	0.93635	0.591000	0.81541	TCA	VPS13C	-	NULL		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62283886	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	nonsense	SNP	0.988	T
VWF	7450	genome.wustl.edu	37	12	6062680	6062682	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:6062680_6062682delTCC	ENST00000261405.5	-	48	8220_8222	c.7966_7968delGGA	c.(7966-7968)ggadel	p.G2656del		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2656					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCATGATCTGTCCTCCTCTTAGC	0.463																																																	0																																										SO:0001651	inframe_deletion	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7966_7968delGGA	12.37:g.6062683_6062685delTCC	ENSP00000261405:p.Gly2656del		Q8TCE8|Q99806	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.G2656in_frame_del	ENST00000261405.5	37	c.7968_7966	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.463	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	TCC	NM_000552		6062682	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	in_frame_del	DEL	0.994:1.000:1.000	-
WRNIP1	56897	genome.wustl.edu	37	6	2766657	2766657	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:2766657G>T	ENST00000380773.4	+	1	1010	c.801G>T	c.(799-801)tgG>tgT	p.W267C	WRNIP1_ENST00000380771.4_Missense_Mutation_p.W267C|WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380769.4_Missense_Mutation_p.W47C	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATCCTGTGGGGGCCGCCGG	0.652																																																	0													11.0	10.0	11.0					6																	2766657		2189	4281	6470	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.801G>T	6.37:g.2766657G>T	ENSP00000370150:p.Trp267Cys			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.W267C	ENST00000380773.4	37	c.801	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903076	0.52227	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769	D;D;D	0.92752	-3.1;-3.1;-3.1	4.31	4.31	0.51392	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.060349	0.64402	D	0.000001	D	0.93174	0.7826	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94280	0.7519	10	0.87932	D	0	-12.9406	15.9965	0.80250	0.0:0.0:1.0:0.0	.	267;267	Q96S55-2;Q96S55	.;WRIP1_HUMAN	C	267;267;47	ENSP00000370150:W267C;ENSP00000370148:W267C;ENSP00000370146:W47C	ENSP00000370146:W47C	W	+	3	0	WRNIP1	2711656	1.000000	0.71417	0.967000	0.41034	0.025000	0.11179	8.575000	0.90766	2.227000	0.72691	0.485000	0.47835	TGG	WRNIP1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.652	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	G	NM_130395		2766657	+1	no_errors	ENST00000380773	ensembl	human	known	70_37	missense	SNP	1.000	T
ZIC1	7545	genome.wustl.edu	37	3	147128259	147128259	+	Silent	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:147128259C>G	ENST00000282928.4	+	1	1089	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCACAGCCTCTTTGCTGCAT	0.706																																																	0													12.0	16.0	15.0					3																	147128259		2076	4183	6259	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.360C>G	3.37:g.147128259C>G			Q2M3N1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L120	ENST00000282928.4	37	c.360	CCDS3136.1	3																																																																																			ZIC1	-	NULL		0.706	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147128259	+1	no_errors	ENST00000282928	ensembl	human	known	70_37	silent	SNP	0.999	G
ZNF491	126069	genome.wustl.edu	37	19	11917006	11917006	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:11917006C>T	ENST00000323169.5	+	3	569	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ACATAAACAACGTAGGAAAGC	0.383																																																	0													48.0	50.0	50.0					19																	11917006		2203	4299	6502	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.238C>T	19.37:g.11917006C>T	ENSP00000313443:p.Arg80Cys		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R80C	ENST00000323169.5	37	c.238	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	0	-2.598156	0.00125	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.09163	3.01;3.63	0.904	-0.254	0.12992	.	.	.	.	.	T	0.01156	0.0038	N	0.00028	-2.63	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.44190	-0.9344	9	0.02654	T	1	.	2.8743	0.05626	0.0:0.3497:0.0:0.6503	.	80	Q8N8L2	ZN491_HUMAN	C	80	ENSP00000313443:R80C;ENSP00000392176:R80C	ENSP00000313443:R80C	R	+	1	0	ZNF491	11778006	0.971000	0.33674	0.010000	0.14722	0.011000	0.07611	1.794000	0.38774	-0.130000	0.11599	-0.438000	0.05819	CGT	ZNF491	-	NULL		0.383	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	C	NM_152356		11917006	+1	no_errors	ENST00000323169	ensembl	human	known	70_37	missense	SNP	0.242	T
ZSCAN5B	342933	genome.wustl.edu	37	19	56704223	56704223	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:56704223C>T	ENST00000586855.2	-	2	512	c.199G>A	c.(199-201)Gag>Aag	p.E67K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E67K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGCACAGCTCAGTGAGTTTC	0.557																																																	0													31.0	31.0	31.0					19																	56704223		2202	4296	6498	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.199G>A	19.37:g.56704223C>T	ENSP00000466072:p.Glu67Lys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E67K	ENST00000586855.2	37	c.199	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943564	0.53079	.	.	ENSG00000197213	ENST00000358992	T	0.07216	3.21	2.48	1.33	0.21861	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.24275	0.0588	M	0.78637	2.42	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.03514	-1.1029	9	0.52906	T	0.07	.	6.7627	0.23550	0.0:0.7037:0.2963:0.0	.	67	A6NJL1	ZSA5B_HUMAN	K	67	ENSP00000351883:E67K	ENSP00000351883:E67K	E	-	1	0	ZSCAN5B	61396035	0.304000	0.24472	0.006000	0.13384	0.373000	0.29922	0.651000	0.24873	0.532000	0.28657	0.313000	0.20887	GAG	ZSCAN5B	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.557	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56704223	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.006	T
ZSCAN5A	79149	genome.wustl.edu	37	19	56733683	56733683	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:56733683C>G	ENST00000587340.1	-	7	1447	c.752G>C	c.(751-753)aGa>aCa	p.R251T	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R105T|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R134T|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R251T|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R250T			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	251					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCCTTTGCTCTCACCAGATC	0.483																																																	0													77.0	77.0	77.0					19																	56733683		2203	4300	6503	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.752G>C	19.37:g.56733683C>G	ENSP00000467631:p.Arg251Thr		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R251T	ENST00000587340.1	37	c.752	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	7.004	0.555408	0.13436	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06218	3.34;3.33	1.94	-0.279	0.12890	.	.	.	.	.	T	0.07098	0.0180	M	0.73598	2.24	0.09310	N	1	P;P	0.42827	0.791;0.534	B;B	0.35470	0.203;0.203	T	0.23976	-1.0173	9	0.54805	T	0.06	.	4.0463	0.09774	0.0:0.5957:0.0:0.4043	.	134;251	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	T	251;134	ENSP00000375593:R251T;ENSP00000254165:R134T	ENSP00000254165:R134T	R	-	2	0	ZSCAN5A	61425495	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.292000	0.02772	-0.009000	0.14296	0.561000	0.74099	AGA	ZSCAN5A	-	NULL		0.483	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	C	NM_024303		56733683	-1	no_errors	ENST00000391713	ensembl	human	known	70_37	missense	SNP	0.000	G
