#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
A2ML1	144568	broad.mit.edu;hgsc.bcm.edu	37	12	8995734	8995734	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:8995734A>G	ENST00000299698.7	+	12	1433	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.K418R(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCAGGGAAAGTTTCAAATG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											66.0	66.0	66.0					12																	8995734		1890	4120	6010	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1253A>G	12.37:g.8995734A>G	ENSP00000299698:p.Lys418Arg			Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.314479	0.01331	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.32272	1.46	4.24	-4.91	0.03085	.	3.675330	0.00757	N	0.001101	T	0.10208	0.0250	N	0.01352	-0.895	0.32268	N	0.569268	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	10	0.12430	T	0.62	.	8.3133	0.32084	0.4047:0.0:0.4922:0.1031	.	418	A8K2U0	A2ML1_HUMAN	R	418	ENSP00000299698:K418R	ENSP00000299698:K418R	K	+	2	0	A2ML1	8887001	0.420000	0.25457	0.046000	0.18839	0.065000	0.16274	0.102000	0.15272	-1.118000	0.02961	-1.386000	0.01163	AAG		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670	
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu	37	7	48312183	48312183	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:48312183G>A	ENST00000435803.1	+	17	2944	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	974					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E974K(1)|p.E919K(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATATATTTATGAATTATTGAA	0.294																																																	2	Substitution - Missense(2)	kidney(2)											45.0	44.0	44.0					7																	48312183		1800	4065	5865	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2920G>A	7.37:g.48312183G>A	ENSP00000411096:p.Glu974Lys		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727499	0.00694	.	.	ENSG00000179869	ENST00000435803	D	0.84146	-1.81	5.67	-7.69	0.01263	.	0.608667	0.14477	N	0.317184	T	0.46814	0.1412	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60031	-0.7342	10	0.02654	T	1	.	3.4868	0.07622	0.2587:0.3705:0.2774:0.0935	.	974	Q86UQ4	ABCAD_HUMAN	K	974	ENSP00000411096:E974K	ENSP00000411096:E974K	E	+	1	0	ABCA13	48282729	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.257000	0.08745	-1.076000	0.03125	0.655000	0.94253	GAA		0.294	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ETNPPL	64850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109669293	109669293	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:109669293C>G	ENST00000296486.3	-	9	1104	c.950G>C	c.(949-951)tGt>tCt	p.C317S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.C277S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.C259S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.C311S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	317						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.C317S(1)									ACCAACAGCACAAGATACTGG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											92.0	87.0	89.0					4																	109669293		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.950G>C	4.37:g.109669293C>G	ENSP00000296486:p.Cys317Ser		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337629	0.60963	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.54	4.7	0.59300	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.138755	0.64402	N	0.000002	T	0.57286	0.2043	M	0.76838	2.35	0.80722	D	1	B;B;B	0.20550	0.013;0.01;0.046	B;B;B	0.37943	0.191;0.098;0.261	T	0.56092	-0.8036	9	.	.	.	-4.7763	14.9163	0.70801	0.0:0.8018:0.1982:0.0	.	259;311;317	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	317;311;259;277	ENSP00000296486:C317S;ENSP00000392269:C311S;ENSP00000427065:C259S;ENSP00000423240:C277S	.	C	-	2	0	AGXT2L1	109888742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.267000	0.72546	1.492000	0.48499	0.655000	0.94253	TGT		0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1		NM_031279	
AHCYL1	10768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110553967	110553967	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:110553967A>C	ENST00000369799.5	+	3	731	c.364A>C	c.(364-366)Att>Ctt	p.I122L	AHCYL1_ENST00000393614.4_Missense_Mutation_p.I75L|AHCYL1_ENST00000359172.3_Missense_Mutation_p.I75L|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	122					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.I122L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GGAGATTGAGATTGCAGAGCA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											162.0	103.0	123.0					1																	110553967		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.364A>C	1.37:g.110553967A>C	ENSP00000358814:p.Ile122Leu		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884218	0.72410	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.74632	-0.86;-0.86;-0.86	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.35288	1.05	0.80722	D	1	B	0.09022	0.002	B	0.28916	0.096	T	0.53634	-0.8411	10	0.19590	T	0.45	-11.0086	16.3756	0.83387	1.0:0.0:0.0:0.0	.	122	O43865	SAHH2_HUMAN	L	122;75;75	ENSP00000358814:I122L;ENSP00000352092:I75L;ENSP00000377238:I75L	ENSP00000352092:I75L	I	+	1	0	AHCYL1	110355490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.270000	0.75569	0.460000	0.39030	ATT		0.488	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62300776	62300776	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:62300776C>A	ENST00000378024.4	-	5	1387	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	371					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K371N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGGGCCCTTCAGCTTCC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											49.0	46.0	47.0					11																	62300776		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1113G>T	11.37:g.62300776C>A	ENSP00000367263:p.Lys371Asn		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032176	0.54790	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	5.28	3.39	0.38822	.	0.000000	0.37178	U	0.002219	T	0.09024	0.0223	M	0.87547	2.89	0.27610	N	0.948699	D	0.64830	0.994	D	0.78314	0.991	T	0.06698	-1.0812	10	0.27082	T	0.32	-8.4656	7.6353	0.28264	0.0:0.6753:0.0:0.3247	.	371	Q09666	AHNK_HUMAN	N	371	ENSP00000367263:K371N	ENSP00000367263:K371N	K	-	3	2	AHNAK	62057352	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.170000	0.03118	1.221000	0.43506	0.650000	0.86243	AAG		0.597	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060	
ALG10B	144245	broad.mit.edu;ucsc.edu	37	12	38710783	38710783	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:38710783G>T	ENST00000308742.4	+	1	404	c.88G>T	c.(88-90)Gcg>Tcg	p.A30S	ALG10B_ENST00000551464.1_Missense_Mutation_p.A30S	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	30					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.A30S(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTCAGCCGGGCGCTGCGAGA	0.607											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											173.0	180.0	178.0					12																	38710783		2203	4300	6503	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.88G>T	12.37:g.38710783G>T	ENSP00000310120:p.Ala30Ser	880	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.060089	0.76074	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.55760	0.5;0.5	3.64	3.64	0.41730	.	0.252575	0.39274	N	0.001412	T	0.44850	0.1313	L	0.47716	1.5	0.28784	N	0.899699	P	0.48998	0.918	P	0.46685	0.524	T	0.35919	-0.9769	10	0.07325	T	0.83	.	11.129	0.48336	0.0:0.0:1.0:0.0	.	30	Q5I7T1	AG10B_HUMAN	S	30	ENSP00000310120:A30S;ENSP00000448819:A30S	ENSP00000310120:A30S	A	+	1	0	ALG10B	36997050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.417000	0.52714	2.309000	0.77851	0.655000	0.94253	GCG		0.607	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1		NM_001013620	
ALOX5	240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	45935891	45935891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:45935891C>T	ENST00000374391.2	+	8	1048	c.995C>T	c.(994-996)cCg>cTg	p.P332L	ALOX5_ENST00000542434.1_Missense_Mutation_p.P332L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	332	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.P332L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AACCAAATCCCGGGAGATGAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											82.0	76.0	78.0					10																	45935891		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.995C>T	10.37:g.45935891C>T	ENSP00000363512:p.Pro332Leu		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211419	0.79240	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89681	-2.55;-2.55	6.06	6.06	0.98353	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95243	0.8353	10	0.66056	D	0.02	-13.4015	18.1182	0.89563	0.0:1.0:0.0:0.0	.	332;332;332	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	332	ENSP00000437634:P332L;ENSP00000363512:P332L	ENSP00000363512:P332L	P	+	2	0	ALOX5	45255897	1.000000	0.71417	0.996000	0.52242	0.444000	0.32077	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CCG		0.483	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			
APOBEC4	403314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183617328	183617328	+	Missense_Mutation	SNP	C	C	A	rs576114883		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:183617328C>A	ENST00000308641.4	-	2	860	c.589G>T	c.(589-591)Gtt>Ttt	p.V197F	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	197					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.V197F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CTGTGGAGAACAGAATGCCAG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											63.0	65.0	64.0					1																	183617328		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.589G>T	1.37:g.183617328C>A	ENSP00000310622:p.Val197Phe		Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665547	0.14710	.	.	ENSG00000173627	ENST00000308641	T	0.67345	-0.26	5.15	3.21	0.36854	.	0.242203	0.28225	N	0.016123	T	0.48822	0.1521	N	0.08118	0	0.26059	N	0.981374	B	0.24043	0.096	B	0.33890	0.172	T	0.49670	-0.8915	10	0.62326	D	0.03	-11.8308	10.4785	0.44678	0.0:0.2662:0.5924:0.1413	.	197	Q8WW27	ABEC4_HUMAN	F	197	ENSP00000310622:V197F	ENSP00000310622:V197F	V	-	1	0	APOBEC4	181883951	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	1.341000	0.33907	0.518000	0.28383	-0.147000	0.13772	GTT		0.507	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1		NM_203454	
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35196564	35196564	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:35196564C>T	ENST00000156471.5	-	19	2199	c.1974G>A	c.(1972-1974)agG>agA	p.R658R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	658					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R658R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGTTTTCTCCTCATTATTA	0.289																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	78.0	80.0					15																	35196564		1789	4057	5846	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1974G>A	15.37:g.35196564C>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																				0.289	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691	
ATG12	9140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115177263	115177263	+	5'UTR	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:115177263A>T	ENST00000509910.1	-	0	292				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.V43E|ATG12_ENST00000509598.1_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.V43E(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GCTTGGAGACACTCGAGAGCG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											78.0	89.0	86.0					5																	115177263		2202	4300	6502	SO:0001623	5_prime_UTR_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-14T>A	5.37:g.115177263A>T			Q6PJV2	RNA	SNP	ENST00000509910.1	37	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371090	0.42003	.	.	ENSG00000145782	ENST00000274459	.	.	.	4.46	-5.44	0.02624	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.21105	N	0.999784	B	0.14438	0.01	B	0.11329	0.006	T	0.31475	-0.9942	7	0.87932	D	0	-8.3851	1.852	0.03171	0.3166:0.3593:0.2032:0.1208	.	43	C1IDX9	.	E	43	.	ENSP00000274459:V43E	V	-	2	0	ATG12	115205162	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.328000	0.07945	-0.844000	0.04184	0.533000	0.62120	GTG		0.587	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3		NM_004707	
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	194177901	194177901	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:194177901C>T	ENST00000439040.1	-	7	1273	c.482G>A	c.(481-483)gGa>gAa	p.G161E	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G161E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	161						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G161E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCATCCAGTCCCCTAAATAA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											102.0	98.0	99.0					3																	194177901		1819	4069	5888	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.482G>A	3.37:g.194177901C>T	ENSP00000416508:p.Gly161Glu		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520863	0.64747	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.86030	-2.06;-2.06	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.66297	2.02	0.80722	D	1	P	0.46912	0.886	B	0.43194	0.411	D	0.83827	0.0250	10	0.26408	T	0.33	-13.622	19.8965	0.96963	0.0:1.0:0.0:0.0	.	161	Q9H7F0	AT133_HUMAN	E	161	ENSP00000416508:G161E;ENSP00000256031:G161E	ENSP00000256031:G161E	G	-	2	0	ATP13A3	195659190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.442000	0.73443	2.717000	0.92951	0.655000	0.94253	GGA		0.333	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524	
C11orf1	64776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111754535	111754535	+	Silent	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:111754535T>C	ENST00000260276.3	+	4	721	c.384T>C	c.(382-384)ccT>ccC	p.P128P	C11orf1_ENST00000528125.1_Silent_p.P82P|C11orf1_ENST00000529270.1_Silent_p.P168P|C11orf1_ENST00000530214.1_Missense_Mutation_p.L106P	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	128						nucleus (GO:0005634)		p.P128P(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GACATCAACCTGAACTGGATC	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	117.0	118.0					11																	111754535		2201	4297	6498	SO:0001819	synonymous_variant	64776			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.384T>C	11.37:g.111754535T>C			Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128024	0.37533	.	.	ENSG00000137720	ENST00000530214	T	0.23348	1.91	5.37	1.69	0.24217	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08806	-1.0704	5	.	.	.	-19.8663	2.2251	0.03982	0.2665:0.0729:0.1387:0.5219	.	.	.	.	P	106	ENSP00000435864:L106P	.	L	+	2	0	C11orf1	111259745	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.904000	0.28491	0.117000	0.18138	-1.201000	0.01664	CTG		0.408	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1		NM_022761	
OTOGL	283310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	80752068	80752068	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:80752068T>A	ENST00000547103.1	+	49	6003	c.5997T>A	c.(5995-5997)gaT>gaA	p.D1999E	OTOGL_ENST00000458043.2_Missense_Mutation_p.D2011E|OTOGL_ENST00000546620.1_Missense_Mutation_p.D30E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1999	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.D2011E(1)|p.D376E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATGTCATGATGGGGAATTTC	0.338																																																	2	Substitution - Missense(2)	kidney(2)											155.0	129.0	138.0					12																	80752068		2203	4300	6503	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5997T>A	12.37:g.80752068T>A	ENSP00000447211:p.Asp1999Glu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.210|0.210	-1.037291|-1.037291	0.02013|0.02013	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67|.	5.39|5.39	1.62|1.62	0.23740|0.23740	.|.	0.332375|.	0.27622|.	N|.	0.018546|.	T|T	0.09774|0.09774	0.0240|0.0240	N|N	0.04335|0.04335	-0.225|-0.225	0.23920|0.23920	N|N	0.996467|0.996467	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.23368|0.23368	-1.0190|-1.0190	10|5	0.02654|.	T|.	1|.	.|.	0.0939|0.0939	0.00042|0.00042	0.2642:0.1982:0.1739:0.3637|0.2642:0.1982:0.1739:0.3637	.|.	376|.	Q3ZCN5|.	OTOGL_HUMAN|.	E|K	1999;2011;30;28|454	ENSP00000447211:D1999E;ENSP00000400895:D2011E;ENSP00000449094:D30E;ENSP00000449641:D28E|.	ENSP00000400895:D2011E|.	D|M	+|+	3|2	2|0	OTOGL|OTOGL	79276199|79276199	0.119000|0.119000	0.22226|0.22226	0.965000|0.965000	0.40720|0.40720	0.336000|0.336000	0.28762|0.28762	-0.397000|-0.397000	0.07269|0.07269	0.308000|0.308000	0.22923|0.22923	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.338	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1		NM_173591	
GDPGP1	390637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90785079	90785079	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:90785079G>T	ENST00000558017.1	+	4	1359	c.939G>T	c.(937-939)ctG>ctT	p.L313L	GDPGP1_ENST00000329600.6_Silent_p.L313L	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	313					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)	p.L313L(1)									GAGTAATTCTGTGGGCCCGGA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	87.0	87.0					15																	90785079		2199	4298	6497	SO:0001819	synonymous_variant	0				CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.939G>T	15.37:g.90785079G>T				Silent	SNP	ENST00000558017.1	37	CCDS32327.1																																																																																				0.552	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1		NM_001013657	
MROH7	374977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55166858	55166858	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:55166858C>T	ENST00000421030.2	+	19	3433	c.3148C>T	c.(3148-3150)Ctg>Ttg	p.L1050L	MROH7_ENST00000409996.1_Silent_p.L618L|MROH7-TTC4_ENST00000414150.2_Silent_p.L1050L|MROH7_ENST00000454855.2_Silent_p.L568L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1050						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L1047L(1)|p.L1050L(1)									GGTGAAGGGCCTGAAGAACAT	0.582																																																	2	Substitution - coding silent(2)	kidney(2)											77.0	81.0	80.0					1																	55166858		2076	4215	6291	SO:0001819	synonymous_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3148C>T	1.37:g.55166858C>T			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																				0.582	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1		NM_198547	
SWT1	54823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185259906	185259906	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:185259906T>C	ENST00000367500.4	+	19	2839	c.2674T>C	c.(2674-2676)Tgt>Cgt	p.C892R	SWT1_ENST00000367501.3_Missense_Mutation_p.C892R	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	892								p.C892R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAGGGGATGGTGTGAAGACAT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											95.0	93.0	94.0					1																	185259906		2203	4300	6503	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2674T>C	1.37:g.185259906T>C	ENSP00000356470:p.Cys892Arg		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968057	0.53507	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18657	2.2;2.2	5.67	4.53	0.55603	.	0.390920	0.27513	N	0.019038	T	0.19327	0.0464	N	0.24115	0.695	0.54753	D	0.999989	P	0.51933	0.949	P	0.49752	0.621	T	0.01146	-1.1437	10	0.62326	D	0.03	.	8.7266	0.34474	0.0:0.148:0.0:0.852	.	892	Q5T5J6	SWT1_HUMAN	R	892	ENSP00000356471:C892R;ENSP00000356470:C892R	ENSP00000356470:C892R	C	+	1	0	SWT1	183526529	0.997000	0.39634	1.000000	0.80357	0.902000	0.53008	0.496000	0.22499	2.148000	0.66965	0.533000	0.62120	TGT		0.398	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673	
C4orf27	54969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170663225	170663225	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:170663225C>T	ENST00000393381.2	-	5	606	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	177						nucleus (GO:0005634)		p.T177T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCTTTTTATCCGTTATTTCTC	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	102.0	105.0					4																	170663225		2202	4300	6502	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.531G>A	4.37:g.170663225C>T				Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.363	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1		NM_017867	
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37165738	37165738	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:37165738T>C	ENST00000508244.1	-	35	7529	c.7436A>G	c.(7435-7437)aAa>aGa	p.K2479R	C5orf42_ENST00000274258.7_Missense_Mutation_p.K1359R|C5orf42_ENST00000425232.2_Missense_Mutation_p.K2479R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2479						integral component of membrane (GO:0016021)		p.K2479R(1)|p.K1359R(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCACATCTTTTTTCTTGCAG	0.318																																																	2	Substitution - Missense(2)	kidney(2)											117.0	106.0	110.0					5																	37165738		2202	4300	6502	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7436A>G	5.37:g.37165738T>C	ENSP00000421690:p.Lys2479Arg		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	7.086	0.571177	0.13623	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.75;1.75;1.76;1.75	5.58	0.456	0.16655	.	0.971984	0.08433	N	0.946636	T	0.18002	0.0432	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.012;0.023	B;B	0.18871	0.016;0.023	T	0.32745	-0.9895	10	0.31617	T	0.26	.	4.552	0.12117	0.0:0.25:0.157:0.593	.	2479;1359	E9PH94;Q9H799	.;CE042_HUMAN	R	2479;2479;1359;1527;1359	ENSP00000421690:K2479R;ENSP00000389014:K2479R;ENSP00000274258:K1359R;ENSP00000424223:K1527R	ENSP00000274258:K1359R	K	-	2	0	C5orf42	37201495	0.000000	0.05858	0.002000	0.10522	0.213000	0.24496	0.100000	0.15231	-0.136000	0.11475	0.460000	0.39030	AAA		0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073	
CLASP2	23122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33648252	33648252	+	Splice_Site	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:33648252T>C	ENST00000468888.2	-	16	1576		c.e16-2		CLASP2_ENST00000313350.6_Splice_Site|CLASP2_ENST00000399362.4_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site|CLASP2_ENST00000487200.1_Splice_Site|CLASP2_ENST00000333778.6_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2						axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATGTATGTCCTGTTAAAAAAA	0.343																																																	2	Unknown(2)	kidney(2)											101.0	99.0	100.0					3																	33648252		1832	4078	5910	SO:0001630	splice_region_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1530-2A>G	3.37:g.33648252T>C			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Splice_Site	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.206931	0.79127	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0894	0.72180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLASP2	33623256	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.698000	0.84413	2.022000	0.59522	0.533000	0.62120	.		0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044	Intron
CLSTN3	9746	hgsc.bcm.edu;ucsc.edu	37	12	7295471	7295472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:7295471_7295472insT	ENST00000266546.6	+	11	1997_1998	c.1547_1548insT	c.(1546-1551)cctttgfs	p.L517fs	CLSTN3_ENST00000537408.1_Frame_Shift_Ins_p.L529fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	517					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTAGGAGACCCTTTGTCGATCC	0.564											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1550dupT	12.37:g.7295474_7295474dupT	ENSP00000266546:p.Leu517fs	640	D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Ins	INS	ENST00000266546.6	37	CCDS8575.1																																																																																				0.564	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2		NM_014718	
CNTNAP3	79937	hgsc.bcm.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-	rs201862102		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542																																																	0										10,3536		0,10,1763	6.0	6.0	6.0			2.0	0.8	9		6	38,7192		2,34,3579	no	frameshift	CNTNAP3	NM_033655.3		2,44,5342	A1A1,A1R,RR		0.5256,0.282,0.4454			39149853	48,10728	1907	3893	5800	SO:0001589	frameshift_variant	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1599delG	9.37:g.39149853delC	ENSP00000297668:p.Ala533fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	CCDS6616.1																																																																																				0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1		NM_033655	
CTNNA2	1496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	80874879	80874879	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:80874879C>A	ENST00000402739.4	+	18	2749	c.2744C>A	c.(2743-2745)cCc>cAc	p.P915H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P822H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P901H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P546H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	915					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.P867H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGAAGAAGCCCCTTGTGAAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											154.0	155.0	155.0					2																	80874879		1879	4122	6001	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2744C>A	2.37:g.80874879C>A	ENSP00000384638:p.Pro915His		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379410	0.82682	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.48201	0.96;0.96;0.93;0.82;0.96;0.84;2.19	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.68439	-0.5408	9	.	.	.	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	499;915;822;867	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	867;867;901;915;867;822;546	ENSP00000418191:P867H;ENSP00000419295:P867H;ENSP00000355398:P901H;ENSP00000384638:P915H;ENSP00000444675:P867H;ENSP00000441705:P822H;ENSP00000341500:P546H	.	P	+	2	0	CTNNA2	80728390	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CCC		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389	
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu	37	14	24590705	24590705	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr14:24590705T>A	ENST00000446197.3	+	13	2105	c.1378T>A	c.(1378-1380)Tgc>Agc	p.C460S	DCAF11_ENST00000559115.1_Missense_Mutation_p.C460S|DCAF11_ENST00000396936.1_Missense_Mutation_p.C360S|DCAF11_ENST00000396941.4_Missense_Mutation_p.C434S|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.L49Q	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	460					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.C460S(1)									CTACAGTGGCTGCTCCACTGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											64.0	50.0	55.0					14																	24590705		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1378T>A	14.37:g.24590705T>A	ENSP00000415556:p.Cys460Ser		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	t	14.68	2.609120	0.46527	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01051	5.4;5.4	5.65	5.65	0.86999	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	0.00608	0.0020	N	0.02368	-0.58	0.80722	D	1	P;P;B;B;P	0.48503	0.911;0.713;0.08;0.244;0.787	B;B;B;B;B	0.39027	0.288;0.225;0.024;0.213;0.241	T	0.67806	-0.5575	10	0.02654	T	1	-16.6493	13.8738	0.63638	0.0:0.0:0.0:1.0	.	383;434;360;460;460	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	460;434;360;434	ENSP00000380142:C360S;ENSP00000380146:C434S	ENSP00000323680:C460S	C	+	1	0	DCAF11	23660545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.891000	0.75639	2.371000	0.80710	0.533000	0.62120	TGC		0.567	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			
DISP2	85455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40662245	40662245	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:40662245A>C	ENST00000267889.3	+	8	4019	c.3932A>C	c.(3931-3933)gAt>gCt	p.D1311A	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1311					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.D1311A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGTGTACCAGATTCCGTGGGT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											93.0	93.0	93.0					15																	40662245		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3932A>C	15.37:g.40662245A>C	ENSP00000267889:p.Asp1311Ala		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236006	0.39498	.	.	ENSG00000140323	ENST00000267889	T	0.13778	2.56	5.2	5.2	0.72013	.	0.219158	0.39146	N	0.001460	T	0.15349	0.0370	N	0.24115	0.695	0.27025	N	0.964384	D	0.56287	0.975	P	0.48815	0.591	T	0.03545	-1.1026	10	0.66056	D	0.02	-9.855	15.2268	0.73357	1.0:0.0:0.0:0.0	.	1311	A7MBM2	DISP2_HUMAN	A	1311	ENSP00000267889:D1311A	ENSP00000267889:D1311A	D	+	2	0	DISP2	38449537	1.000000	0.71417	0.565000	0.28409	0.985000	0.73830	1.754000	0.38369	2.185000	0.69588	0.459000	0.35465	GAT		0.627	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510	
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7681680	7681680	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:7681680A>G	ENST00000572933.1	+	35	6894	c.5434A>G	c.(5434-5436)Acc>Gcc	p.T1812A	DNAH2_ENST00000389173.2_Missense_Mutation_p.T1812A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1812	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1812A(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAGACCGAGACCGTCAAGGA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											64.0	59.0	61.0					17																	7681680		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5434A>G	17.37:g.7681680A>G	ENSP00000458355:p.Thr1812Ala		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957690	0.92726	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.39787	1.06	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80815	-0.1214	10	0.87932	D	0	.	14.7985	0.69894	1.0:0.0:0.0:0.0	.	1812	Q9P225	DYH2_HUMAN	A	1812	ENSP00000373825:T1812A	ENSP00000353818:T1812A	T	+	1	0	DNAH2	7622405	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	8.968000	0.93407	2.330000	0.79161	0.528000	0.53228	ACC		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11593618	11593618	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:11593618G>C	ENST00000262442.4	+	20	4547	c.4479G>C	c.(4477-4479)gaG>gaC	p.E1493D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1493D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1493	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1493D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTTCTTGGAGGAGGTGTCGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											119.0	116.0	117.0					17																	11593618		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4479G>C	17.37:g.11593618G>C	ENSP00000262442:p.Glu1493Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267925	0.23136	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61510	0.1;0.1	5.57	2.46	0.29980	Dynein heavy chain, domain-2 (1);	0.129151	0.51477	D	0.000085	T	0.39600	0.1084	N	0.25286	0.73	0.80722	D	1	B	0.14438	0.01	B	0.20384	0.029	T	0.13602	-1.0503	10	0.31617	T	0.26	.	8.758	0.34656	0.2961:0.0:0.7039:0.0	.	1493	Q9NYC9	DYH9_HUMAN	D	1493;1493;75	ENSP00000262442:E1493D;ENSP00000414874:E1493D	ENSP00000262442:E1493D	E	+	3	2	DNAH9	11534343	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.858000	0.27845	0.710000	0.31997	-0.136000	0.14681	GAG		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129202630	129202630	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:129202630C>T	ENST00000280333.6	+	40	4105	c.3996C>T	c.(3994-3996)atC>atT	p.I1332I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1332	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1332I(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAAAGTGATCAGGCCCAAGC	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	64.0	64.0					10																	129202630		1866	4105	5971	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3996C>T	10.37:g.129202630C>T			A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380	
DOPEY2	9980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37603371	37603371	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr21:37603371C>T	ENST00000399151.3	+	14	2374	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	763					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.F763F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGCCACTTTCCCTGTCTACC	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	69.0	70.0					21																	37603371		2203	4299	6502	SO:0001819	synonymous_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2289C>T	21.37:g.37603371C>T			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	CCDS13643.1																																																																																				0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128	
DTNA	1837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32409025	32409025	+	Intron	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr18:32409025G>T	ENST00000399113.3	+	10	1094				DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.G372V|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.G369V|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000601125.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G369V(2)|p.G372V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTTTTGGTGGATGCGTCTAG	0.428																																																	3	Substitution - Missense(3)	kidney(3)											220.0	201.0	207.0					18																	32409025		1893	4116	6009	SO:0001627	intron_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1094+1385G>T	18.37:g.32409025G>T			A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416023	0.62511	.	.	ENSG00000134769	ENST00000315456;ENST00000556176	T	0.18810	2.19	5.35	4.4	0.53042	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.80722	D	1	D;D	0.62365	0.985;0.991	P;P	0.56514	0.636;0.8	T	0.05632	-1.0873	8	0.72032	D	0.01	.	10.8214	0.46606	0.098:0.0:0.902:0.0	.	369;372	Q9BS59;Q9Y4J8-7	.;.	V	372;369	ENSP00000322519:G372V	ENSP00000322519:G372V	G	+	2	0	DTNA	30663023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.342000	0.33919	2.808000	0.96608	0.650000	0.86243	GGA		0.428	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390	
ELOVL4	6785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80635976	80635976	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:80635976T>A	ENST00000369816.4	-	2	523	c.223A>T	c.(223-225)Atg>Ttg	p.M75L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	75					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.M75L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ACTAGACGCATCTGAAAAGGT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											89.0	77.0	81.0					6																	80635976		2203	4300	6503	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.223A>T	6.37:g.80635976T>A	ENSP00000358831:p.Met75Leu		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	T	5.704	0.314403	0.10789	.	.	ENSG00000118402	ENST00000369816	T	0.13538	2.58	5.85	5.85	0.93711	.	0.044040	0.85682	D	0.000000	T	0.00552	0.0018	N	0.00020	-2.78	0.38604	D	0.950746	B	0.02656	0.0	B	0.04013	0.001	T	0.50004	-0.8878	10	0.02654	T	1	-31.7672	9.4335	0.38624	0.2489:0.0:0.0:0.7511	.	75	Q9GZR5	ELOV4_HUMAN	L	75	ENSP00000358831:M75L	ENSP00000358831:M75L	M	-	1	0	ELOVL4	80692695	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.859000	0.39418	2.222000	0.72286	0.533000	0.62120	ATG		0.388	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A				Silent	SNP	ENST00000492551.1	37																																																																																					0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
FAM136A	84908	broad.mit.edu;hgsc.bcm.edu	37	2	70529085	70529085	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:70529085A>T	ENST00000037869.3	-	1	137	c.59T>A	c.(58-60)cTg>cAg	p.L20Q	FAM136A_ENST00000430566.1_Missense_Mutation_p.L20Q|FAM136A_ENST00000450256.1_Missense_Mutation_p.L20Q|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	20						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.L20Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCTCTTTCCAGACTCTTCAC	0.701											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											60.0	50.0	53.0					2																	70529085		2202	4299	6501	SO:0001583	missense	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.59T>A	2.37:g.70529085A>T	ENSP00000037869:p.Leu20Gln	1123	Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223721	0.58668	.	.	ENSG00000035141	ENST00000037869;ENST00000450256;ENST00000430566;ENST00000438759	.	.	.	3.81	3.81	0.43845	.	0.077467	0.53938	D	0.000053	T	0.73560	0.3602	M	0.88310	2.945	0.28499	N	0.914084	D	0.69078	0.997	D	0.69142	0.962	T	0.70846	-0.4761	9	0.87932	D	0	.	11.798	0.52110	1.0:0.0:0.0:0.0	.	20	Q96C01	F136A_HUMAN	Q	20;20;20;5	.	ENSP00000037869:L20Q	L	-	2	0	FAM136A	70382589	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.793000	0.85851	1.724000	0.51502	0.164000	0.16699	CTG		0.701	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2		NM_032822	
FZD2	2535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42636502	42636502	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:42636502C>T	ENST00000315323.3	+	1	1578	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	482					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y482Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTACTTCTACGAGCAGGCCT	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	49.0	53.0					17																	42636502		2203	4300	6503	SO:0001819	synonymous_variant	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1446C>T	17.37:g.42636502C>T			Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.652	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1		NM_001466	
GABRG1	2565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46060386	46060386	+	Splice_Site	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:46060386C>T	ENST00000295452.4	-	7	931	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	255					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G255E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACATAATCCCCTGTAAGAAA	0.279																																																	1	Substitution - Missense(1)	kidney(1)											73.0	77.0	76.0					4																	46060386		2203	4299	6502	SO:0001630	splice_region_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.764-1G>A	4.37:g.46060386C>T			Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825871	0.90955	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79454	-1.27	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	H	0.96916	3.905	0.58432	D	0.999999	D	0.63046	0.992	D	0.65874	0.939	D	0.94194	0.7444	10	0.87932	D	0	.	19.1446	0.93459	0.0:1.0:0.0:0.0	.	255	Q8N1C3	GBRG1_HUMAN	E	255	ENSP00000295452:G255E	ENSP00000295452:G255E	G	-	2	0	GABRG1	45755143	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.705000	0.84606	2.771000	0.95319	0.644000	0.83932	GGG		0.279	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536	Missense_Mutation
CERS1	10715	broad.mit.edu	37	19	18990120	18990122	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:18990120_18990122delTCA	ENST00000427170.2	-	5	899_901	c.828_830delTGA	c.(826-831)cctgac>ccc	p.D277del	AC005197.2_ENST00000597769.1_RNA|GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_In_Frame_Del_p.D277del|CERS1_ENST00000542296.2_In_Frame_Del_p.D179del	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	277	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						GAAGGGGATGTCAGGCACCGTGC	0.601																																																	0																																										SO:0001651	inframe_deletion	2657			AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.828_830delTGA	19.37:g.18990120_18990122delTCA	ENSP00000402697:p.Asp277del			In_Frame_Del	DEL	ENST00000427170.2	37	CCDS46020.1																																																																																				0.601	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
GRIN2A	2903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9943692	9943692	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr16:9943692C>T	ENST00000396573.2	-	6	1558	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V417I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V417I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V417I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V260I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V417I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	417					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V417I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCACGATGACGAATGGGGCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											179.0	141.0	154.0					16																	9943692		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1249G>A	16.37:g.9943692C>T	ENSP00000379818:p.Val417Ile		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005630	0.93287	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.21191	2.05;2.02;2.09;2.05;2.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.81614	2.55	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.992	D;P;P	0.63488	0.915;0.825;0.892	T	0.49679	-0.8914	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	260;417;417	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	417;417;260;417;417	ENSP00000379818:V417I;ENSP00000385872:V417I;ENSP00000441572:V260I;ENSP00000332549:V417I;ENSP00000379820:V417I	.	V	-	1	0	GRIN2A	9851193	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTC		0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			
GUCA2A	2980	hgsc.bcm.edu;ucsc.edu	37	1	42629119	42629119	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:42629119G>A	ENST00000357001.2	-	2	243	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	80						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)	p.P80S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCAGAGAGGCTTGAGTTCT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											56.0	53.0	54.0					1																	42629119		2203	4300	6503	SO:0001583	missense	2980			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"""Endogenous ligands"""	4682	protein-coding gene	gene with protein product	"""prepro-guanylin"""	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.238C>T	1.37:g.42629119G>A	ENSP00000349493:p.Pro80Ser			Missense_Mutation	SNP	ENST00000357001.2	37	CCDS465.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604162	0.87157	.	.	ENSG00000197273	ENST00000357001	T	0.62232	0.04	5.79	2.81	0.32909	.	0.123966	0.56097	N	0.000039	T	0.65123	0.2661	M	0.87180	2.865	0.22728	N	0.998804	P	0.47484	0.896	P	0.44394	0.448	T	0.62248	-0.6894	10	0.66056	D	0.02	0.4501	6.1409	0.20259	0.1699:0.1536:0.6765:0.0	.	80	Q02747	GUC2A_HUMAN	S	80	ENSP00000349493:P80S	ENSP00000349493:P80S	P	-	1	0	GUCA2A	42401706	0.187000	0.23238	0.244000	0.24202	0.977000	0.68977	1.276000	0.33156	0.752000	0.32923	0.655000	0.94253	CCT		0.562	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1		NM_033553	
HNRNPLL	92906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38797055	38797055	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:38797055T>C	ENST00000449105.3	-	9	1444	c.1105A>G	c.(1105-1107)Aag>Gag	p.K369E	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.K335E|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.K364E|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.K335E|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.K369E			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	369	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K369E(1)									GGAATGGTCTTCATAAATTTT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											103.0	105.0	104.0					2																	38797055		2203	4298	6501	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1105A>G	2.37:g.38797055T>C	ENSP00000390625:p.Lys369Glu		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.834528	0.91036	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.58583	1.82	0.80722	D	1	D;D;P	0.57257	0.979;0.979;0.701	D;D;B	0.67548	0.952;0.952;0.322	T	0.74478	-0.3652	9	0.41790	T	0.15	-15.0018	16.1668	0.81768	0.0:0.0:0.0:1.0	.	364;369;369	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	E	369;364;335;335	.	ENSP00000368195:K335E	K	-	1	0	HNRPLL	38650559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.930000	0.87610	2.210000	0.71456	0.533000	0.62120	AAG		0.338	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2		NM_138394	
HTT	3064	broad.mit.edu;ucsc.edu	37	4	3208562	3208562	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:3208562G>T	ENST00000355072.5	+	44	6072	c.5927G>T	c.(5926-5928)tGc>tTc	p.C1976F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1976					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.C1976F(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTTCAGTGCTTGGAGGGG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											80.0	77.0	78.0					4																	3208562		1928	4146	6074	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5927G>T	4.37:g.3208562G>T	ENSP00000347184:p.Cys1976Phe		Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742150	0.49151	.	.	ENSG00000197386	ENST00000355072	T	0.07800	3.16	5.45	4.6	0.57074	.	0.094739	0.85682	D	0.000000	T	0.28665	0.0710	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.04017	-1.0984	10	0.87932	D	0	.	15.8943	0.79323	0.0:0.0:0.8634:0.1366	.	1976	P42858	HD_HUMAN	F	1976	ENSP00000347184:C1976F	ENSP00000347184:C1976F	C	+	2	0	HTT	3178360	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	9.724000	0.98775	1.416000	0.47057	-0.182000	0.12963	TGC		0.458	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111	
IBTK	25998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	82925803	82925803	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:82925803G>A	ENST00000306270.7	-	11	2140	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	IBTK_ENST00000510291.1_Missense_Mutation_p.P531S|IBTK_ENST00000503631.1_Missense_Mutation_p.P531S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	531					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.P531S(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTGTTTTAGGATCTGACTGC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											72.0	67.0	68.0					6																	82925803		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1591C>T	6.37:g.82925803G>A	ENSP00000305721:p.Pro531Ser		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932379	0.92389	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.29142	1.82;1.58;1.83	6.06	6.06	0.98353	.	0.048348	0.85682	D	0.000000	T	0.48169	0.1485	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.961;1.0;1.0;1.0	P;D;D;D	0.91635	0.541;0.999;0.999;0.999	T	0.17018	-1.0383	10	0.15952	T	0.53	-17.1817	20.6397	0.99537	0.0:0.0:1.0:0.0	.	531;531;531;531	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	S	531	ENSP00000305721:P531S;ENSP00000422762:P531S;ENSP00000426405:P531S	ENSP00000305721:P531S	P	-	1	0	IBTK	82982522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.079000	0.94032	2.880000	0.98712	0.650000	0.86243	CCT		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2		NM_015525	
IDO1	3620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	39775606	39775606	+	Splice_Site	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:39775606G>A	ENST00000518237.1	+	3	822		c.e3-1		RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Splice_Site|RP11-44K6.2_ENST00000520185.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.?(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TTTGTTTTCAGTTAAACATGC	0.398																																																	1	Unknown(1)	kidney(1)											124.0	117.0	119.0					8																	39775606		1992	4172	6164	SO:0001630	splice_region_variant	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.184-1G>A	8.37:g.39775606G>A			Q540B4	Splice_Site	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176559	0.38413	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000518237	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2257	0.73348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IDO1	39894763	1.000000	0.71417	0.498000	0.27564	0.026000	0.11368	5.547000	0.67249	2.667000	0.90743	0.585000	0.79938	.		0.398	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1		NM_002164	Intron
IL1RAP	3556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	190366339	190366339	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:190366339G>A	ENST00000412504.2	+	11	1810	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	IL1RAP_ENST00000072516.3_Missense_Mutation_p.V520M|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V520M|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V520M			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	520	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.V520M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGCTAAGACGGTGCTCACGGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											104.0	105.0	104.0					3																	190366339		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1558G>A	3.37:g.190366339G>A	ENSP00000412053:p.Val520Met		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093537	0.76756	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	6.03	5.15	0.70609	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.900963	0.09430	N	0.803149	T	0.19685	0.0473	L	0.33485	1.01	0.32573	N	0.529534	D	0.55385	0.971	P	0.62491	0.903	T	0.12915	-1.0529	10	0.36615	T	0.2	.	15.7602	0.78073	0.0:0.0:0.8627:0.1373	.	520	Q9NPH3	IL1AP_HUMAN	M	520	ENSP00000072516:V520M;ENSP00000412053:V520M;ENSP00000401132:V520M;ENSP00000390541:V520M	ENSP00000072516:V520M	V	+	1	0	IL1RAP	191849033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.540000	0.49301	0.557000	0.71058	GTG		0.488	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			
IQCA1	79781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	237300665	237300665	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:237300665T>G	ENST00000409907.3	-	11	1641	c.1367A>C	c.(1366-1368)gAc>gCc	p.D456A	AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.D415A|IQCA1_ENST00000465621.1_5'Flank|IQCA1_ENST00000309507.5_Missense_Mutation_p.D452A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	456	Lys-rich.						ATP binding (GO:0005524)	p.D463A(1)|p.D456A(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CCTTTCTCTGTCCACAGCTAG	0.458																																																	2	Substitution - Missense(2)	kidney(2)											180.0	185.0	183.0					2																	237300665		1882	4111	5993	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1367A>C	2.37:g.237300665T>G	ENSP00000387347:p.Asp456Ala		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838894	0.51057	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.94184	-3.28;-3.27;-3.37	5.45	5.45	0.79879	.	0.328665	0.26217	N	0.025643	D	0.93739	0.7999	L	0.46947	1.48	0.37210	D	0.904774	P;D;P	0.54964	0.826;0.969;0.558	B;P;B	0.58172	0.303;0.834;0.314	D	0.93602	0.6931	10	0.27082	T	0.32	.	13.7718	0.63029	0.0:0.0:0.0:1.0	.	415;463;456	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	A	456;463;452;415;452	ENSP00000387347:D456A;ENSP00000311951:D452A;ENSP00000407213:D415A	ENSP00000254653:D456A	D	-	2	0	IQCA1	236965404	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.351000	0.59398	2.064000	0.61679	0.533000	0.62120	GAC		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1		NM_024726	
IQUB	154865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123142671	123142671	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:123142671G>A	ENST00000466202.1	-	6	1579	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	IQUB_ENST00000434450.1_Missense_Mutation_p.H335Y|IQUB_ENST00000324698.6_Missense_Mutation_p.H335Y|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	335					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.H335Y(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTTTGAGCATGGTATTCTGCT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											121.0	113.0	116.0					7																	123142671		2203	4300	6503	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1003C>T	7.37:g.123142671G>A	ENSP00000417769:p.His335Tyr		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996415	0.74818	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48201	1.83;1.83;0.82	5.51	5.51	0.81932	.	0.050433	0.85682	D	0.000000	T	0.69369	0.3103	M	0.81497	2.545	0.49483	D	0.99979	D;D	0.69078	0.997;0.996	D;P	0.63033	0.91;0.816	T	0.68689	-0.5342	10	0.37606	T	0.19	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	335;335	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	Y	335	ENSP00000417769:H335Y;ENSP00000324882:H335Y;ENSP00000388498:H335Y	ENSP00000324882:H335Y	H	-	1	0	IQUB	122929907	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.001000	0.70685	2.603000	0.88011	0.655000	0.94253	CAT		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1		NM_178827	
IRS2	8660	broad.mit.edu;hgsc.bcm.edu	37	13	110437883	110437883	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr13:110437883C>G	ENST00000375856.3	-	1	1032	c.518G>C	c.(517-519)gGc>gCc	p.G173A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	173					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G173A(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gccggcagagccgcccagggc	0.796																																					Melanoma(100;613 2409 40847)												1	Substitution - Missense(1)	kidney(1)											4.0	5.0	5.0					13																	110437883		1556	3145	4701	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.518G>C	13.37:g.110437883C>G	ENSP00000365016:p.Gly173Ala		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	c	6.007	0.369610	0.11352	.	.	ENSG00000185950	ENST00000375856	T	0.47528	0.84	3.63	2.79	0.32731	.	.	.	.	.	T	0.25568	0.0622	N	0.19112	0.55	0.27425	N	0.954185	B	0.30793	0.295	B	0.26202	0.067	T	0.18023	-1.0350	9	0.05721	T	0.95	-11.0176	8.8	0.34903	0.0:0.885:0.0:0.115	.	173	Q9Y4H2	IRS2_HUMAN	A	173	ENSP00000365016:G173A	ENSP00000365016:G173A	G	-	2	0	IRS2	109235884	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	3.896000	0.56266	0.767000	0.33267	0.487000	0.48397	GGC		0.796	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749	
CCDC183	84960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139701099	139701099	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr9:139701099T>C	ENST00000338005.6	+	11	1288	c.1253T>C	c.(1252-1254)aTg>aCg	p.M418T	RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		418								p.M418T(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GTCCGGCTGATGGGCATTAAC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											34.0	40.0	38.0					9																	139701099		2087	4201	6288	SO:0001583	missense	84960																														ENST00000338005.6:c.1253T>C	9.37:g.139701099T>C	ENSP00000338013:p.Met418Thr		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	T	5.598	0.295056	0.10622	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.10668	2.85	5.07	2.52	0.30459	.	.	.	.	.	T	0.06280	0.0162	N	0.22421	0.69	0.09310	N	0.999996	B	0.21452	0.056	B	0.23018	0.043	T	0.44236	-0.9341	9	0.13470	T	0.59	0.0	5.1852	0.15180	0.1811:0.0:0.1887:0.6302	.	418	Q5T5S1	K1984_HUMAN	T	418	ENSP00000338013:M418T	ENSP00000338013:M418T	M	+	2	0	KIAA1984	138820920	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.188000	0.17018	0.744000	0.32741	-0.496000	0.04628	ATG		0.622	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			
LARS	51520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145524053	145524053	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:145524053C>T	ENST00000394434.2	-	17	1803	c.1637G>A	c.(1636-1638)tGc>tAc	p.C546Y	LARS_ENST00000545646.1_Missense_Mutation_p.C500Y|LARS_ENST00000510191.1_Missense_Mutation_p.C492Y|LARS_ENST00000274562.9_Missense_Mutation_p.C519Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	546					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.C546Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GTTCTTCAAGCACTGAGATGT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											165.0	157.0	160.0					5																	145524053		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1637G>A	5.37:g.145524053C>T	ENSP00000377954:p.Cys546Tyr		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811307	0.32053	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.3	4.41	0.53225	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.260691	0.45361	D	0.000364	T	0.72269	0.3439	L	0.51853	1.615	0.39231	D	0.963679	B;D;B	0.54964	0.03;0.969;0.06	B;P;B	0.47827	0.026;0.558;0.026	T	0.70676	-0.4806	10	0.13108	T	0.6	-10.3869	16.1065	0.81225	0.0:0.8659:0.1341:0.0	.	519;500;546	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	Y	546;500;492;519	ENSP00000377954:C546Y;ENSP00000437791:C500Y;ENSP00000426005:C492Y;ENSP00000274562:C519Y	ENSP00000274562:C519Y	C	-	2	0	LARS	145504246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.169000	0.42434	1.332000	0.45431	0.491000	0.48974	TGC		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1		NM_020117	
LLGL2	3993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73565078	73565078	+	Missense_Mutation	SNP	C	C	T	rs201300652		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:73565078C>T	ENST00000392550.3	+	13	1459	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	LLGL2_ENST00000167462.5_Missense_Mutation_p.R448W|LLGL2_ENST00000577200.1_Missense_Mutation_p.R448W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	448					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R448W(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGCACGGTGCGGTTCTGGGA	0.662																																																	2	Substitution - Missense(2)	kidney(2)											41.0	42.0	42.0					17																	73565078		2203	4300	6503	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1342C>T	17.37:g.73565078C>T	ENSP00000376333:p.Arg448Trp		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564370	0.27915	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.37584	1.19;1.19	5.33	-1.53	0.08611	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.054448	0.85682	D	0.000000	T	0.62841	0.2461	M	0.87547	2.89	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.924;0.988;0.98;0.988;0.993	T	0.75039	-0.3458	10	0.87932	D	0	-26.4431	18.1188	0.89565	0.593:0.407:0.0:0.0	.	75;437;437;448;448	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	W	448;448;437	ENSP00000167462:R448W;ENSP00000376333:R448W	ENSP00000167462:R448W	R	+	1	2	LLGL2	71076673	1.000000	0.71417	0.193000	0.23327	0.860000	0.49131	1.276000	0.33156	-0.049000	0.13379	-0.268000	0.10319	CGG		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524	
BRDTP1	643486	broad.mit.edu	37	X	95592534	95592534	+	IGR	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chrX:95592534C>T								RN7SL379P (313890 upstream) : RN7SKP194 (72896 downstream)																							CAAATGTCTCCGTACAGTTCC	0.388																																																	0																																										SO:0001628	intergenic_variant	643486																															X.37:g.95592534C>T				RNA	SNP		37																																																																																				0	0.388									
MAP4	4134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47912403	47912403	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:47912403A>T	ENST00000360240.6	-	13	3277	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	MAP4_ENST00000441748.2_Missense_Mutation_p.L72H|MAP4_ENST00000264724.11_Missense_Mutation_p.L655H|MAP4_ENST00000426837.2_Missense_Mutation_p.L2065H|MAP4_ENST00000383737.4_Missense_Mutation_p.L648H|MAP4_ENST00000420772.2_Missense_Mutation_p.L651H|MAP4_ENST00000395734.3_Missense_Mutation_p.L920H|MAP4_ENST00000462206.1_5'Flank	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	920					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L920H(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGGCGGCTGAGCCGGGGGGT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											58.0	67.0	64.0					3																	47912403		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2759T>A	3.37:g.47912403A>T	ENSP00000353375:p.Leu920His		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.549750	0.65311	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.32023	3.04;1.47;3.19;3.21;3.17;2.22;2.18;1.5	5.13	1.49	0.22878	.	.	.	.	.	T	0.40979	0.1139	L	0.42245	1.32	0.22226	N	0.999274	D;D;D;D;D;D;D	0.76494	0.994;0.999;0.999;0.992;0.999;0.993;0.994	D;D;D;P;D;P;D	0.71414	0.973;0.973;0.967;0.827;0.94;0.628;0.971	T	0.14117	-1.0484	9	0.42905	T	0.14	0.0955	6.9394	0.24484	0.6434:0.0:0.3565:0.0	.	651;655;920;920;655;648;2065	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;.;MAP4_HUMAN;.;.;.	H	648;655;920;2065;920;651;286;72;655	ENSP00000373243:L648H;ENSP00000264724:L655H;ENSP00000379083:L920H;ENSP00000407602:L2065H;ENSP00000353375:L920H;ENSP00000409731:L651H;ENSP00000334770:L286H;ENSP00000415130:L72H	ENSP00000264724:L655H	L	-	2	0	MAP4	47887407	0.144000	0.22641	0.995000	0.50966	0.843000	0.47879	0.098000	0.15189	0.436000	0.26393	0.533000	0.62120	CTC		0.612	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375	
MAPK8IP2	23542	broad.mit.edu	37	22	51042064	51042064	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr22:51042064A>C	ENST00000329492.3	+	4	574	c.457A>C	c.(457-459)Aac>Cac	p.N153H	MAPK8IP2_ENST00000399912.1_5'UTR|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.N153H|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Intron	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	153	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.N153H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACTCCCTAAACAACAACGG	0.667																																																	2	Substitution - Missense(2)	kidney(2)											15.0	17.0	16.0					22																	51042064		2017	4164	6181	SO:0001583	missense	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.457A>C	22.37:g.51042064A>C	ENSP00000330572:p.Asn153His		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.013715	0.75161	.	.	ENSG00000008735	ENST00000329492;ENST00000442429	T;T	0.69685	-0.02;-0.42	4.35	4.35	0.52113	.	0.051151	0.85682	D	0.000000	T	0.78368	0.4272	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.80551	-0.1332	10	0.72032	D	0.01	-9.5918	11.8544	0.52429	1.0:0.0:0.0:0.0	.	126;153	E7EQG6;Q13387	.;JIP2_HUMAN	H	153	ENSP00000330572:N153H;ENSP00000404914:N153H	ENSP00000330572:N153H	N	+	1	0	MAPK8IP2	49388930	.	.	0.997000	0.53966	0.776000	0.43924	.	.	1.968000	0.57251	0.374000	0.22700	AAC		0.667	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_012324	
MPRIP	23164	broad.mit.edu;hgsc.bcm.edu	37	17	17078669	17078669	+	Silent	SNP	C	C	A	rs369573954		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:17078669C>A	ENST00000341712.4	+	19	2652	c.2652C>A	c.(2650-2652)ggC>ggA	p.G884G	MPRIP_ENST00000395804.3_Silent_p.G884G|MPRIP_ENST00000444976.1_Silent_p.G846G|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Silent_p.G884G			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	884						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.G884G(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGGGACGGCGGTGGGGAGG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	37.0	39.0					17																	17078669		2203	4296	6499	SO:0001819	synonymous_variant	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2652C>A	17.37:g.17078669C>A			Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	6.272	0.418373	0.11870	.	.	ENSG00000133030	ENST00000414263	.	.	.	5.77	-8.33	0.00992	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	T	0.22661	-1.0210	4	.	.	.	-11.5729	3.7501	0.08563	0.0776:0.285:0.2322:0.4052	.	.	.	.	E	950	.	.	A	+	2	0	MPRIP	17019394	0.012000	0.17670	0.000000	0.03702	0.736000	0.42039	-0.923000	0.04000	-1.411000	0.02032	-0.136000	0.14681	GCG		0.627	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134	
MSH3	4437	broad.mit.edu	37	5	79950727	79950728	+	In_Frame_Ins	INS	-	-	CAGCGCCCC	rs1574197|rs60484572	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:79950727_79950728insCAGCGCCCC	ENST00000265081.6	+	1	261_262	c.181_182insCAGCGCCCC	c.(181-183)gca>gCAGCGCCCCca	p.67_68insAPP	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	67					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		cgcagcggccgcagcgCCCCCA	0.723								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0																																										SO:0001652	inframe_insertion	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.191_199dupCAGCGCCCC	5.37:g.79950728_79950736dupCAGCGCCCC	ENSP00000265081:p.Ala65_Pro67dup		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Ins	INS	ENST00000265081.6	37	CCDS34195.1																																																																																				0.723	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439	
Unknown	0	broad.mit.edu	37	1	16974141	16974141	+	IGR	DEL	G	G	-	rs367807952		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:16974141delG								CROCCP2 (13087 upstream) : RNU1-3 (19138 downstream)																							TGGCTTGGCCGGGGAGGTCAG	0.667																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16974141delG				RNA	DEL		37																																																																																				0	0.667									
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9067640	9067640	+	Silent	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:9067640A>G	ENST00000397910.4	-	3	20009	c.19806T>C	c.(19804-19806)tcT>tcC	p.S6602S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6604	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)		p.S6602S(2)|p.S2235S(1)		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						ATTCCTTTTCAGAAGTGGTGG	0.428																																																	3	Substitution - coding silent(3)	kidney(3)											201.0	183.0	189.0					19																	9067640		1926	4134	6060	SO:0001819	synonymous_variant	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.19806T>C	19.37:g.9067640A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYPN	84665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69881502	69881502	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:69881502G>C	ENST00000358913.5	+	2	795	c.307G>C	c.(307-309)Gat>Cat	p.D103H	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.D103H|MYPN_ENST00000540630.1_Missense_Mutation_p.D103H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	103	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.D103H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACTTTCTCCTGATCAGATGAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											50.0	49.0	49.0					10																	69881502		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.307G>C	10.37:g.69881502G>C	ENSP00000351790:p.Asp103His		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650081	0.47362	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.61627	0.46;0.44;0.09	6.03	6.03	0.97812	.	0.501051	0.22654	N	0.057282	T	0.68686	0.3028	L	0.51422	1.61	0.47994	D	0.999561	P;P	0.50617	0.937;0.8	P;B	0.55999	0.789;0.417	T	0.62756	-0.6787	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	103;103	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	H	103	ENSP00000351790:D103H;ENSP00000441668:D103H;ENSP00000362779:D103H	.	D	+	1	0	MYPN	69551508	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	3.832000	0.55783	2.861000	0.98227	0.655000	0.94253	GAT		0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1		NM_032578	
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95148802	95148802	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:95148802C>A	ENST00000359263.4	-	18	1565	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	MYOF_ENST00000371501.4_Missense_Mutation_p.E522D|MYOF_ENST00000371502.4_Missense_Mutation_p.E522D|MYOF_ENST00000358334.5_Missense_Mutation_p.E509D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	522					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.E522D(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGTATTCAGCTCATCATAGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											163.0	149.0	153.0					10																	95148802		1850	4083	5933	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1566G>T	10.37:g.95148802C>A	ENSP00000352208:p.Glu522Asp		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	6.383	0.438736	0.12104	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83163	-1.69;-1.68;-1.69;-1.69	4.92	-4.07	0.03975	.	0.381500	0.28865	N	0.013898	T	0.53094	0.1775	N	0.05158	-0.105	0.27075	N	0.963233	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.001	T	0.49263	-0.8958	10	0.12430	T	0.62	-10.9185	3.297	0.06970	0.0908:0.2535:0.3679:0.2878	.	509;522	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	D	509;522;522;522	ENSP00000351094:E509D;ENSP00000352208:E522D;ENSP00000360556:E522D;ENSP00000360557:E522D	ENSP00000351094:E509D	E	-	3	2	MYOF	95138792	0.000000	0.05858	0.378000	0.26068	0.976000	0.68499	-3.939000	0.00330	-0.572000	0.06006	0.563000	0.77884	GAG		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451	
OLFM3	118427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	102302569	102302569	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:102302569G>C	ENST00000338858.5	-	2	141	c.142C>G	c.(142-144)Cct>Gct	p.P48A	OLFM3_ENST00000359814.3_Missense_Mutation_p.P48A|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.P28A|OLFM3_ENST00000536598.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	48					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.P28A(1)|p.P48A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTTCTTTAGGACTAATCTGA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											61.0	58.0	59.0					1																	102302569		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.142C>G	1.37:g.102302569G>C	ENSP00000345192:p.Pro48Ala		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260016	0.80246	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	D;D;T	0.88896	-2.44;-2.44;0.87	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.83275	0.94;0.996	D	0.92911	0.6347	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	28;48	Q5T3V6;Q96PB7	.;NOE3_HUMAN	A	28;48;48	ENSP00000359121:P28A;ENSP00000345192:P48A;ENSP00000352867:P48A	ENSP00000345192:P48A	P	-	1	0	OLFM3	102075157	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	9.561000	0.98142	2.937000	0.99478	0.650000	0.86243	CCT		0.448	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			
OR2T8	343172	broad.mit.edu	37	1	248084574	248084574	+	Silent	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:248084574C>A	ENST00000319968.4	+	1	255	c.255C>A	c.(253-255)acC>acA	p.T85T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T85T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTACTTGACCGGAAGTAAGG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											32.0	32.0	32.0					1																	248084574		2161	4228	6389	SO:0001819	synonymous_variant	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.255C>A	1.37:g.248084574C>A				Silent	SNP	ENST00000319968.4	37	CCDS31100.1																																																																																				0.582	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1		NM_001005522	
OR2T33	391195	broad.mit.edu;hgsc.bcm.edu	37	1	248436862	248436862	+	Silent	SNP	G	G	T	rs555852038	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:248436862G>T	ENST00000318021.2	-	1	276	c.255C>A	c.(253-255)acC>acA	p.T85T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T85T(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTACTTCCGGTCAAGTAGT	0.572																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											84.0	76.0	79.0					1																	248436862		2203	4296	6499	SO:0001819	synonymous_variant	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.255C>A	1.37:g.248436862G>T			B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																				0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1		NM_001004695	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52623110	52623110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:52623110C>A	ENST00000296302.7	-	18	2942	c.2941G>T	c.(2941-2943)Gaa>Taa	p.E981*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E981*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E996*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E981*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E996*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E981*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E949*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E981*			Q86U86	PB1_HUMAN	polybromo 1	981	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E981*(2)|p.E949*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACAGTCTTTCAATACAGACG	0.428			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											153.0	149.0	150.0					3																	52623110		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2941G>T	3.37:g.52623110C>A	ENSP00000296302:p.Glu981*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.705818	0.98922	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.8903	0.92397	0.0:1.0:0.0:0.0	.	.	.	.	X	949;981;981;981;981;981;996;996;980;939	.	ENSP00000296302:E981X	E	-	1	0	PBRM1	52598150	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.757000	0.85209	2.448000	0.82819	0.591000	0.81541	GAA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122433220	122433220	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:122433220T>C	ENST00000474629.2	+	12	4210	c.3944T>C	c.(3943-3945)tTg>tCg	p.L1315S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1315	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1315S(1)|p.L1152S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCCTCTGTTTTGCAGGAGTGT	0.408																																																	2	Substitution - Missense(2)	kidney(2)											63.0	60.0	61.0					3																	122433220		1870	4100	5970	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3944T>C	3.37:g.122433220T>C	ENSP00000418194:p.Leu1315Ser		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898135	0.72639	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.37411	1.2	5.51	5.51	0.81932	Appr-1-p processing (3);	0.000000	0.53938	D	0.000048	T	0.71813	0.3384	H	0.96301	3.8	0.48762	D	0.999702	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81466	-0.0920	10	0.87932	D	0	.	14.5968	0.68413	0.0:0.0:0.0:1.0	.	1315;1315	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	1315;1234;311	ENSP00000418194:L1315S	ENSP00000381224:L311S	L	+	2	0	PARP14	123915910	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	6.254000	0.72460	2.317000	0.78254	0.459000	0.35465	TTG		0.408	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554	
PCDHB11	56125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140579545	140579545	+	Silent	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:140579545G>C	ENST00000354757.3	+	1	198	c.198G>C	c.(196-198)gtG>gtC	p.V66V	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V66V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTCGGGTGGTCTCTAATG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	105.0	102.0					5																	140579545		2203	4300	6503	SO:0001819	synonymous_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.198G>C	5.37:g.140579545G>C			B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.517	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931	
PCDHGA8	9708	broad.mit.edu	37	5	140774176	140774176	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:140774176G>T	ENST00000398604.2	+	1	1796	c.1796G>T	c.(1795-1797)gGc>gTc	p.G599V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	599	Cadherin 6. {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)	p.G599V(3)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGACTCGGGCCAGAACGCC	0.706																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1796G>T	5.37:g.140774176G>T	ENSP00000381605:p.Gly599Val		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.662262	0.67700	.	.	ENSG00000253767	ENST00000398604	T	0.21361	2.01	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	0.000000	0.31624	U	0.007336	T	0.68751	0.3035	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85054	0.0930	10	0.87932	D	0	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	599;599	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	599	ENSP00000381605:G599V	ENSP00000381605:G599V	G	+	2	0	PCDHGA8	140754360	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	7.609000	0.82925	2.308000	0.77769	0.655000	0.94253	GGC		0.706	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088	
PCNXL3	399909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65386188	65386188	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:65386188G>A	ENST00000355703.3	+	6	1894	c.1355G>A	c.(1354-1356)tGc>tAc	p.C452Y		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	452	Ser-rich.					integral component of membrane (GO:0016021)		p.C333Y(2)|p.C452Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTACTTCCTGCTACTCCCCT	0.647																																																	3	Substitution - Missense(3)	kidney(3)											38.0	37.0	38.0					11																	65386188		1892	4109	6001	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1355G>A	11.37:g.65386188G>A	ENSP00000347931:p.Cys452Tyr		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896333	0.72639	.	.	ENSG00000197136	ENST00000355703	T	0.01159	5.25	5.23	4.32	0.51571	.	0.000000	0.42964	D	0.000631	T	0.02848	0.0085	L	0.34521	1.04	0.40044	D	0.975698	D	0.65815	0.995	D	0.72982	0.979	T	0.67941	-0.5540	10	0.26408	T	0.33	.	9.8547	0.41079	0.0943:0.0:0.9057:0.0	.	452	Q9H6A9	PCX3_HUMAN	Y	452	ENSP00000347931:C452Y	ENSP00000347931:C452Y	C	+	2	0	PCNXL3	65142764	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	6.317000	0.72862	1.222000	0.43521	0.561000	0.74099	TGC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223	
PHF12	57649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27233901	27233901	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:27233901T>A	ENST00000332830.4	-	14	3463	c.2653A>T	c.(2653-2655)Att>Ttt	p.I885F	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.I885F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGGCAACAATACTGCTTGGG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	99.0					17																	27233901		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2653A>T	17.37:g.27233901T>A	ENSP00000329933:p.Ile885Phe			Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715226	0.48622	.	.	ENSG00000109118	ENST00000332830	D	0.94576	-3.46	4.99	4.99	0.66335	.	0.063665	0.64402	D	0.000003	D	0.92130	0.7505	L	0.50333	1.59	0.80722	D	1	P;P	0.43477	0.808;0.808	B;B	0.41299	0.353;0.353	D	0.91757	0.5417	10	0.41790	T	0.15	-19.5564	13.6498	0.62304	0.0:0.0:0.0:1.0	.	867;885	B4DFE2;Q96QT6	.;PHF12_HUMAN	F	885	ENSP00000329933:I885F	ENSP00000329933:I885F	I	-	1	0	PHF12	24258027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.578000	0.60929	2.089000	0.63090	0.379000	0.24179	ATT		0.522	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889	
PLAC9	219348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	81904026	81904026	+	Silent	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:81904026G>C	ENST00000372263.3	+	3	252	c.210G>C	c.(208-210)ctG>ctC	p.L70L	PLAC9_ENST00000372270.2_Silent_p.L28L|PLAC9_ENST00000372267.2_Intron	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	70						extracellular region (GO:0005576)		p.L70L(1)		kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			TGAAAGGCCTGCTGGGCCTGC	0.627											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											71.0	64.0	66.0					10																	81904026		2203	4300	6503	SO:0001819	synonymous_variant	219348				CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.210G>C	10.37:g.81904026G>C		1209		Silent	SNP	ENST00000372263.3	37	CCDS31232.1																																																																																				0.627	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049019.1		NM_001012973	
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144995815	144995815	+	Missense_Mutation	SNP	G	G	A	rs371900885		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:144995815G>A	ENST00000322810.4	-	32	8754	c.8585C>T	c.(8584-8586)aCg>aTg	p.T2862M	PLEC_ENST00000527096.1_Missense_Mutation_p.T2748M|PLEC_ENST00000345136.3_Missense_Mutation_p.T2725M|PLEC_ENST00000356346.3_Missense_Mutation_p.T2711M|PLEC_ENST00000354958.2_Missense_Mutation_p.T2703M|PLEC_ENST00000436759.2_Missense_Mutation_p.T2752M|PLEC_ENST00000354589.3_Missense_Mutation_p.T2725M|PLEC_ENST00000398774.2_Missense_Mutation_p.T2693M|PLEC_ENST00000357649.2_Missense_Mutation_p.T2729M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2862	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.T2862K(1)|p.T2862M(1)|p.T2725K(1)|p.T2725M(1)|p.T2752M(1)|p.T2752K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGAGGGCCGTGCCGGGACT	0.662																																																	6	Substitution - Missense(6)	kidney(3)|endometrium(3)						G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4204		0,0,2102	29.0	34.0	33.0		8255,8132,8108,8585,8078,8174,8186,8174	4.3	0.9	8		33	1,8411		0,1,4205	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	81,81,81,81,81,81,81,81	0,1,6307	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2752/4575,2711/4534,2703/4526,2862/4685,2693/4516,2725/4548,2729/4552,2725/4548	144995815	1,12615	2102	4206	6308	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8585C>T	8.37:g.144995815G>A	ENSP00000323856:p.Thr2862Met		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829494	0.32329	0.0	1.19E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.3	4.3	0.51218	.	0.079870	0.47455	U	0.000233	D	0.87277	0.6137	M	0.85630	2.765	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.993;0.993;0.993;0.996;0.993;0.993;0.993;0.993	D	0.89068	0.3467	10	0.56958	D	0.05	.	16.8983	0.86106	0.0:0.0:1.0:0.0	.	2752;2711;2703;2862;2693;2725;2729;2725	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2725;2729;2725;2693;2862;2703;2711;2752;2748	ENSP00000344848:T2725M;ENSP00000350277:T2729M;ENSP00000346602:T2725M;ENSP00000381756:T2693M;ENSP00000323856:T2862M;ENSP00000347044:T2703M;ENSP00000348702:T2711M;ENSP00000388180:T2752M;ENSP00000434583:T2748M	ENSP00000323856:T2862M	T	-	2	0	PLEC	145067803	1.000000	0.71417	0.944000	0.38274	0.641000	0.38312	5.423000	0.66458	2.404000	0.81709	0.448000	0.29417	ACG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445	
POLR2I	5438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36605736	36605736	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:36605736T>A	ENST00000221859.4	-	1	512	c.23A>T	c.(22-24)gAg>gTg	p.E8V	TBCB_ENST00000589996.1_5'Flank|TBCB_ENST00000221855.3_5'Flank|TBCB_ENST00000585746.1_5'Flank|TBCB_ENST00000586868.1_5'Flank	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	8					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter (GO:0001193)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.E8V(1)		kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGCCCGGCTCGTAAGTCCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											74.0	77.0	76.0					19																	36605736		2203	4300	6503	SO:0001583	missense	5438				CCDS12487.1	19q13.12	2013-10-17	2002-08-29		ENSG00000105258	ENSG00000105258	2.7.7.6	"""RNA polymerase subunits"""	9196	protein-coding gene	gene with protein product		180662	"""polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)"""			8034326	Standard	NM_006233		Approved	RPB9, hRPB14.5	uc002ode.3	P36954	OTTHUMG00000181749	ENST00000221859.4:c.23A>T	19.37:g.36605736T>A	ENSP00000221859:p.Glu8Val		B2R5J2|Q6NW05	Missense_Mutation	SNP	ENST00000221859.4	37	CCDS12487.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563466	0.65651	.	.	ENSG00000105258	ENST00000221859	T	0.45668	0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.29908	0.895	0.80722	D	1	B	0.22003	0.063	B	0.15052	0.012	T	0.07252	-1.0782	10	0.38643	T	0.18	-9.9224	13.6792	0.62474	0.0:0.0:0.0:1.0	.	8	P36954	RPB9_HUMAN	V	8	ENSP00000221859:E8V	ENSP00000221859:E8V	E	-	2	0	POLR2I	41297576	1.000000	0.71417	0.999000	0.59377	0.444000	0.32077	4.941000	0.63540	2.330000	0.79161	0.528000	0.53228	GAG		0.687	POLR2I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457442.1		NM_006233	
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G				RNA	SNP	ENST00000414583.2	37																																																																																					0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G				RNA	SNP	ENST00000414583.2	37																																																																																					0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
PTOV1	53635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50358129	50358129	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:50358129T>C	ENST00000601675.1	+	4	538	c.434T>C	c.(433-435)aTc>aCc	p.I145T	PTOV1_ENST00000391842.1_Missense_Mutation_p.I145T|PTOV1_ENST00000601638.1_Missense_Mutation_p.I113T|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Missense_Mutation_p.I113T|PTOV1_ENST00000600603.1_Missense_Mutation_p.I113T|AC018766.5_ENST00000593654.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.I145T|MIR4749_ENST00000578197.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I145T(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATGCAGCTGATCCCTCAGCAG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											34.0	36.0	35.0					19																	50358129		2203	4300	6503	SO:0001583	missense	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.434T>C	19.37:g.50358129T>C	ENSP00000472816:p.Ile145Thr		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919040	0.52546	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.43	2.4	0.29515	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.522374	0.17885	N	0.158732	T	0.71358	0.3330	L	0.56769	1.78	0.46131	D	0.998881	P;B;B	0.34892	0.474;0.004;0.118	P;B;B	0.55923	0.787;0.03;0.29	T	0.70781	-0.4779	9	0.87932	D	0	-52.5191	7.3961	0.26938	0.0:0.1112:0.0:0.8888	.	113;145;113	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	T	113;145	.	ENSP00000221557:I113T	I	+	2	0	PTOV1	55049941	1.000000	0.71417	0.989000	0.46669	0.857000	0.48899	3.503000	0.53340	0.677000	0.31305	0.460000	0.39030	ATC		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1		NM_017432	
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109379898	109379898	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:109379898A>G	ENST00000283195.6	+	20	3029	c.2903A>G	c.(2902-2904)cAg>cGg	p.Q968R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	968					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q968R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATGTTCAACAGACAAGCACA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											101.0	101.0	101.0					2																	109379898		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2903A>G	2.37:g.109379898A>G	ENSP00000283195:p.Gln968Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.083292	0.36758	.	.	ENSG00000153201	ENST00000283195	T	0.26067	1.76	5.19	5.19	0.71726	.	.	.	.	.	T	0.36441	0.0967	L	0.32530	0.975	0.30701	N	0.750247	D	0.76494	0.999	D	0.63488	0.915	T	0.27400	-1.0075	9	0.54805	T	0.06	-11.3489	11.3691	0.49690	0.8485:0.1515:0.0:0.0	.	968	P49792	RBP2_HUMAN	R	968	ENSP00000283195:Q968R	ENSP00000283195:Q968R	Q	+	2	0	RANBP2	108746330	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	3.740000	0.55082	2.078000	0.62432	0.460000	0.39030	CAG		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RCN2	5955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77241529	77241529	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:77241529T>G	ENST00000394885.3	+	7	1143	c.920T>G	c.(919-921)cTc>cGc	p.L307R	RCN2_ENST00000394883.3_Missense_Mutation_p.L206R|RCN2_ENST00000320963.5_Missense_Mutation_p.L325R	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	307						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)	p.L307R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GGCAGACAGCTCCATGATGAC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											113.0	114.0	114.0					15																	77241529		2196	4294	6490	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.920T>G	15.37:g.77241529T>G	ENSP00000378349:p.Leu307Arg		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288585	0.80914	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.59772	0.24;0.24;0.24	5.91	5.91	0.95273	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	D	0.85746	0.1340	10	0.87932	D	0	-13.6652	16.3472	0.83146	0.0:0.0:0.0:1.0	.	206;325;307	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	R	307;325;206	ENSP00000378349:L307R;ENSP00000319739:L325R;ENSP00000378347:L206R	ENSP00000319739:L325R	L	+	2	0	RCN2	75028584	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.393000	0.79851	2.266000	0.75297	0.454000	0.30748	CTC		0.403	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1		NM_002902	
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152318926	152318927	+	Splice_Site	DNP	GG	GG	TA			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:152318926_152318927GG>TA	ENST00000243326.5	+	28	3792_3793	c.3309_3310GG>TA	c.(3307-3312)atGGaa>atTAaa	p.1103_1104ME>IK	RIF1_ENST00000453091.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000428287.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000444746.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000430328.2_Splice_Site_p.1103_1104ME>IK			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E1104K(1)|p.M1103>?(1)|p.M1103I(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		tttatttCAGGGAAATTCCTAC	0.287																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001630	splice_region_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	Exception_encountered	2.37:g.152318926_152318927delinsTA			A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																				0.287	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			Missense_Mutation
RIPK3	11035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24808452	24808452	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr14:24808452C>T	ENST00000216274.5	-	3	458	c.240G>A	c.(238-240)gaG>gaA	p.E80E	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.E80E(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGTTCACCTTCTCGATAACCC	0.577																																					Pancreas(58;918 1191 4668 13304 15331)												1	Substitution - coding silent(1)	kidney(1)											97.0	84.0	88.0					14																	24808452		2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.240G>A	14.37:g.24808452C>T			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	CCDS9628.1																																																																																				0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4		NM_006871	
SCUBE2	57758	broad.mit.edu;ucsc.edu	37	11	9048918	9048918	+	Silent	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:9048918C>A	ENST00000309263.3	-	19	2679	c.2607G>T	c.(2605-2607)cgG>cgT	p.R869R	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.R898R|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Silent_p.R841R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	869	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R869R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACAGGTTTTCCGCATCACCA	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	81.0	85.0					11																	9048918		2201	4296	6497	SO:0001819	synonymous_variant	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2607G>T	11.37:g.9048918C>A			Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.608|9.608	1.130587|1.130587	0.21041|0.21041	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000519202	.|.	.|.	.|.	5.34|5.34	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59004	.|0.2162	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56498	.|-0.7969	.|4	.|.	.|.	.|.	.|.	8.5466|8.5466	0.33426|0.33426	0.0:0.7783:0.0:0.2217|0.0:0.7783:0.0:0.2217	.|.	.|.	.|.	.|.	X|V	57|52	.|.	.|.	E|G	-|-	1|2	0|0	SCUBE2|SCUBE2	9005494|9005494	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.276000|0.276000	0.18716|0.18716	1.256000|1.256000	0.44068|0.44068	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.592	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2		NM_020974	
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCTCCAGTGCTCCTCAAAG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692347G>A				Missense_Mutation	SNP	ENST00000427841.1	37																																																																																					0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			
SEMA3D	223117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	84694820	84694820	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:84694820G>C	ENST00000284136.6	-	6	681	c.638C>G	c.(637-639)aCt>aGt	p.T213S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.T213S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.T213S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTGAATGCAGTATCTTTGCC	0.423																																					Ovarian(63;442 1191 17318 29975 31528)												1	Substitution - Missense(1)	kidney(1)											133.0	116.0	122.0					7																	84694820		2203	4300	6503	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.638C>G	7.37:g.84694820G>C	ENSP00000284136:p.Thr213Ser		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835559	0.16820	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.10860	2.83;2.83	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.045982	0.85682	D	0.000000	T	0.07324	0.0185	N	0.05608	-0.01	0.47374	D	0.999402	B;B	0.23735	0.09;0.009	B;B	0.26614	0.071;0.019	T	0.36792	-0.9733	10	0.09590	T	0.72	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	213;213	C9JYT6;O95025	.;SEM3D_HUMAN	S	213	ENSP00000284136:T213S;ENSP00000401366:T213S	ENSP00000284136:T213S	T	-	2	0	SEMA3D	84532756	1.000000	0.71417	0.152000	0.22495	0.175000	0.22909	7.223000	0.78033	2.774000	0.95407	0.585000	0.79938	ACT		0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754	
SLC4A11	83959	broad.mit.edu;ucsc.edu	37	20	3211240	3211240	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr20:3211240A>G	ENST00000380056.3	-	11	1431	c.1384T>C	c.(1384-1386)Tgg>Cgg	p.W462R	SLC4A11_ENST00000539553.2_Missense_Mutation_p.W446R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.W489R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	462	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.W462R(1)|p.W489R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGCCCGTCCATGCGTAGAAG	0.567																																					NSCLC(190;922 2139 10266 10292 38692)												2	Substitution - Missense(2)	kidney(2)											102.0	104.0	104.0					20																	3211240		2203	4300	6503	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1384T>C	20.37:g.3211240A>G	ENSP00000369396:p.Trp462Arg		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739587	0.49045	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.81330	-1.48;-1.48;-1.48	4.91	4.91	0.64330	Bicarbonate transporter, C-terminal (1);	0.063363	0.64402	D	0.000002	D	0.90559	0.7041	M	0.89163	3.01	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72982	0.949;0.979;0.97	D	0.92168	0.5741	10	0.62326	D	0.03	.	14.4966	0.67691	1.0:0.0:0.0:0.0	.	446;489;462	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	R	489;462;446	ENSP00000369399:W489R;ENSP00000369396:W462R;ENSP00000441370:W446R	ENSP00000369396:W462R	W	-	1	0	SLC4A11	3159240	1.000000	0.71417	0.926000	0.36857	0.326000	0.28443	7.105000	0.77031	1.968000	0.57251	0.460000	0.39030	TGG		0.567	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			
SLC6A14	11254	hgsc.bcm.edu	37	X	115572174	115572175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chrX:115572174_115572175insG	ENST00000371900.4	+	3	343_344	c.255_256insG	c.(256-258)ggtfs	p.G86fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	86					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAGCATTGGCTGGTTTACCTTT	0.406																																																	0																																										SO:0001589	frameshift_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.257dupG	X.37:g.115572176_115572176dupG	ENSP00000360967:p.Gly86fs		Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	CCDS14570.1																																																																																				0.406	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			
SLC7A13	157724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87242198	87242198	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:87242198C>T	ENST00000297524.3	-	1	412	c.309G>A	c.(307-309)ctG>ctA	p.L103L	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.L103L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	103						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L103L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCCCTGACCCCAGAAACAAGG	0.473																																																	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											59.0	58.0	58.0					8																	87242198		2203	4300	6503	SO:0001819	synonymous_variant	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.309G>A	8.37:g.87242198C>T			Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																				0.473	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1		NM_138817	
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39250293	39250293	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:39250293G>T	ENST00000426016.1	-	11	1362	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K	SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.Q426K|SOS1_ENST00000395038.2_Missense_Mutation_p.Q426K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	426					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q426K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATATTCTTCTGAATCTCGTTC	0.373									Noonan syndrome																																								1	Substitution - Missense(1)	kidney(1)											101.0	89.0	94.0					2																	39250293		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1276C>A	2.37:g.39250293G>T	ENSP00000387784:p.Gln426Lys		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547701	0.86022	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.90732	-2.72;-2.72;-2.72	5.52	5.52	0.82312	Dbl homology (DH) domain (1);	0.059390	0.64402	D	0.000001	D	0.92044	0.7479	M	0.77313	2.365	0.80722	D	1	P;P	0.44877	0.819;0.845	B;B	0.42995	0.313;0.404	D	0.93031	0.6448	10	0.87932	D	0	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	158;426	F5GX06;Q07889	.;SOS1_HUMAN	K	426;426;158;426;426	ENSP00000387784:Q426K;ENSP00000384675:Q426K;ENSP00000378479:Q426K	ENSP00000263879:Q426K	Q	-	1	0	SOS1	39103797	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.672000	0.98629	2.753000	0.94483	0.557000	0.71058	CAG		0.373	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633	
SPECC1	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20107798	20107798	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:20107798C>A	ENST00000261503.5	+	4	487	c.436C>A	c.(436-438)Cac>Aac	p.H146N	SPECC1_ENST00000395525.3_Missense_Mutation_p.H65N|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.H146N|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395522.2_Missense_Mutation_p.H65N|SPECC1_ENST00000395529.3_Missense_Mutation_p.H146N|SPECC1_ENST00000395530.2_Missense_Mutation_p.H65N	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	146					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.H146N(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCCTACGAAACACCTGAGGAC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											122.0	125.0	124.0					17																	20107798		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.436C>A	17.37:g.20107798C>A	ENSP00000261503:p.His146Asn		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595554	0.13875	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.62941	-0.01;2.98;2.99;2.99	4.73	2.7	0.31948	.	0.236287	0.50627	D	0.000102	T	0.46092	0.1375	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.29162	0.067;0.235;0.235;0.047	B;B;B;B	0.27380	0.079;0.079;0.079;0.012	T	0.29305	-1.0016	10	0.34782	T	0.22	-9.9946	4.8083	0.13331	0.1712:0.6401:0.0:0.1888	.	65;65;146;146	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	N	146;146;146;65;65;65	ENSP00000261503:H146N;ENSP00000378900:H146N;ENSP00000378893:H65N;ENSP00000378896:H65N	ENSP00000261503:H146N	H	+	1	0	SPECC1	20048390	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	2.161000	0.42358	0.661000	0.30985	0.591000	0.81541	CAC		0.527	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904	
STAG2	10735	broad.mit.edu;hgsc.bcm.edu	37	X	123197044	123197044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chrX:123197044C>T	ENST00000371160.1	+	19	2100	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R535*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R604*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R604*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R604*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R604*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	604					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R604*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACCACTGGACGATTAGAAAA	0.289																																																	2	Substitution - Nonsense(2)	kidney(2)											56.0	54.0	54.0					X																	123197044		2203	4300	6503	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1810C>T	X.37:g.123197044C>T	ENSP00000360202:p.Arg604*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	39	7.657845	0.98415	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7315	13.1438	0.59450	0.2898:0.7102:0.0:0.0	.	.	.	.	X	604;535;604;604;604;604	.	ENSP00000218089:R604X	R	+	1	2	STAG2	123024725	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.023000	0.41040	1.030000	0.39839	0.544000	0.68410	CGA		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
TAB2	23118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149691195	149691195	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:149691195C>G	ENST00000367456.1	+	3	639	c.62C>G	c.(61-63)cCt>cGt	p.P21R	TAB2_ENST00000392282.1_Missense_Mutation_p.P21R|TAB2_ENST00000286332.5_Missense_Mutation_p.P21R|TAB2_ENST00000538427.1_Missense_Mutation_p.P21R|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	21	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.P21R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAAAAATTCCCTGAAGTACCT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											138.0	128.0	132.0					6																	149691195		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.62C>G	6.37:g.149691195C>G	ENSP00000356426:p.Pro21Arg		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043041	0.93685	.	.	ENSG00000055208	ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	D;D;D;D	0.92858	-2.63;-3.12;-3.12;-3.12	5.68	5.68	0.88126	Ubiquitin system component Cue (3);	0.046563	0.85682	D	0.000000	D	0.92469	0.7609	L	0.34521	1.04	0.80722	D	1	P	0.52577	0.954	P	0.60012	0.867	D	0.92898	0.6337	10	0.72032	D	0.01	-12.1195	20.1467	0.98079	0.0:1.0:0.0:0.0	.	21	Q9NYJ8	TAB2_HUMAN	R	21	ENSP00000376106:P21R;ENSP00000445752:P21R;ENSP00000356426:P21R;ENSP00000286332:P21R	ENSP00000286332:P21R	P	+	2	0	TAB2	149732888	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.418000	0.80167	2.838000	0.97847	0.655000	0.94253	CCT		0.383	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			
TAS2R38	5726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		821	0.7	0.4	7	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TAS2R38	NM_176817.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	274/334	141672669	5,13001	2203	4300	6503	SO:0001583	missense	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.821G>A	7.37:g.141672669C>T	ENSP00000448219:p.Arg274His		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137168	0.01742	2.27E-4	4.65E-4	ENSG00000257138	ENST00000547270	T	0.00745	5.75	4.35	0.706	0.18133	.	0.826911	0.10796	N	0.633258	T	0.00328	0.0010	N	0.00690	-1.25	0.09310	N	0.99999	B	0.06786	0.001	B	0.04013	0.001	T	0.41070	-0.9529	10	0.20046	T	0.44	.	6.29	0.21054	0.0:0.3047:0.0:0.6953	.	274	P59533	T2R38_HUMAN	H	274	ENSP00000448219:R274H	ENSP00000331291:R274H	R	-	2	0	TAS2R38	141319138	0.048000	0.20356	0.396000	0.26296	0.035000	0.12851	0.491000	0.22419	0.122000	0.18314	-1.004000	0.02495	CGC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2		NM_176817	
TCTE1	202500	broad.mit.edu;hgsc.bcm.edu	37	6	44255550	44255550	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:44255550C>T	ENST00000371505.4	-	2	135	c.13G>A	c.(13-15)Gta>Ata	p.V5I	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	5								p.V5I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATGTCGTTACGGTATCCTGC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											119.0	83.0	95.0					6																	44255550		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.13G>A	6.37:g.44255550C>T	ENSP00000360560:p.Val5Ile		B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	3.619	-0.077965	0.07184	.	.	ENSG00000146221	ENST00000371505	T	0.20332	2.08	3.53	-6.93	0.01638	.	3.267970	0.01300	N	0.010274	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999999	B	0.24368	0.102	B	0.10450	0.005	T	0.24548	-1.0157	10	0.15066	T	0.55	5.2089	2.1447	0.03784	0.3373:0.3573:0.1923:0.1131	.	5	Q5JU00	TCTE1_HUMAN	I	5	ENSP00000360560:V5I	ENSP00000360560:V5I	V	-	1	0	TCTE1	44363528	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.416000	0.02467	-1.850000	0.01169	-0.518000	0.04402	GTA		0.562	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1		NM_182539	
TET1	80312	hgsc.bcm.edu;ucsc.edu	37	10	70451380	70451382	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:70451380_70451382delAAG	ENST00000373644.4	+	12	6429_6431	c.6220_6222delAAG	c.(6220-6222)aagdel	p.K2074del		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2074					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAAAGAAGCTAAGAATAAGAAAA	0.399																																																	0																																										SO:0001651	inframe_deletion	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6220_6222delAAG	10.37:g.70451380_70451382delAAG	ENSP00000362748:p.Lys2074del		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	In_Frame_Del	DEL	ENST00000373644.4	37	CCDS7281.1																																																																																				0.399	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625	
TM4SF20	79853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228228665	228228665	+	Silent	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:228228665A>T	ENST00000304568.3	-	4	502	c.465T>A	c.(463-465)acT>acA	p.T155T		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T155T(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TATTGAAACCAGTAGGAGGTG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	76.0	78.0					2																	228228665		2203	4300	6503	SO:0001819	synonymous_variant	79853			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.465T>A	2.37:g.228228665A>T			B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	CCDS2466.1																																																																																				0.398	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2		NM_024795	
TMCO1	54499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165712544	165712544	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:165712544C>T	ENST00000392129.6	-	6	478	c.328G>A	c.(328-330)Gat>Aat	p.D110N	TMCO1_ENST00000367881.5_Missense_Mutation_p.D161N|TMCO1_ENST00000464650.1_Missense_Mutation_p.D26N|TMCO1_ENST00000580248.1_Missense_Mutation_p.D26N	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	110						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D110N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACTCTACCATCAAATCTAAAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											53.0	57.0	56.0					1																	165712544		2203	4300	6503	SO:0001583	missense	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.328G>A	1.37:g.165712544C>T	ENSP00000375975:p.Asp110Asn		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37		.	.	.	.	.	.	.	.	.	.	C	34	5.319670	0.95682	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.08	6.08	0.98989	.	0.045787	0.85682	N	0.000000	T	0.67183	0.2866	M	0.79258	2.445	0.49687	D	0.999811	P;P	0.46859	0.885;0.73	P;P	0.49477	0.612;0.544	T	0.69518	-0.5124	8	0.52906	T	0.07	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	98;110	B7Z591;Q9UM00	.;TMCO1_HUMAN	N	110;91	.	ENSP00000356856:D110N	D	-	1	0	TMCO1	163979168	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.894000	0.99253	0.655000	0.94253	GAT		0.378	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1		NM_019026	
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	83290181	83290181	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:83290181C>G	ENST00000321196.3	+	3	1946	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L	TMTC2_ENST00000549919.1_Missense_Mutation_p.F407L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F413L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	413					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.F413L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCTGTTTTTCTATGTCGGCT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											170.0	170.0	170.0					12																	83290181		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1239C>G	12.37:g.83290181C>G	ENSP00000322300:p.Phe413Leu		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926756	0.73327	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.44482	0.92;0.92;0.92	5.86	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.74546	2.27	0.80722	D	1	D;D;D	0.76494	0.999;0.959;0.995	D;P;P	0.80764	0.994;0.882;0.814	T	0.63019	-0.6730	10	0.56958	D	0.05	-25.5984	11.4423	0.50105	0.0:0.8024:0.0:0.1976	.	413;168;413	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	L	413;413;407;168	ENSP00000322300:F413L;ENSP00000448292:F413L;ENSP00000447609:F407L	ENSP00000322300:F413L	F	+	3	2	TMTC2	81814312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.125000	0.50469	0.816000	0.34421	0.650000	0.86243	TTC		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588	
TNXB	7148	broad.mit.edu;hgsc.bcm.edu	37	6	32047063	32047063	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:32047063G>A	ENST00000375244.3	-	11	4323	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Silent_p.L1374L			P22105	TENX_HUMAN	tenascin XB	1461	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L1374L(1)|p.L1461L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCCCCAGGAGCGGCTCCT	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											59.0	66.0	64.0					6																	32047063		1184	2504	3688	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4122C>T	6.37:g.32047063G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105	
TOR1AIP2	163590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	179833916	179833916	+	Splice_Site	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:179833916C>A	ENST00000553856.1	-	1	395	c.396G>T	c.(394-396)taG>taT	p.*132Y	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000609928.1_Intron	NM_022347.3	NP_071742.1	Q9H496	IFG15_HUMAN		0								p.*132Y(2)									ATTATAGAAGCTATTTGTTTT	0.363																																																	2	Nonstop extension(2)	kidney(2)											85.0	85.0	85.0					1																	179833916		1806	4068	5874	SO:0001630	splice_region_variant	163590																														ENST00000553856.1:c.393+1G>T	1.37:g.179833916C>A			Q05BU2	Missense_Mutation	SNP	ENST00000553856.1	37	CCDS53439.1	.	.	.	.	.	.	.	.	.	.	C	6.912	0.537855	0.13188	.	.	ENSG00000258664	ENST00000553856	.	.	.	4.52	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.34494	D	0.705346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3525	0.21383	0.0:0.1116:0.0:0.8884	.	.	.	.	Y	132	.	.	X	-	3	2	AL359853.3	178100539	1.000000	0.71417	0.360000	0.25837	0.166000	0.22503	1.666000	0.37460	1.068000	0.40764	-0.302000	0.09304	TAG		0.363	IFRG15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Nonstop_Mutation
TREH	11181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118531943	118531943	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:118531943G>A	ENST00000529101.1	-	8	828	c.783C>T	c.(781-783)aaC>aaT	p.N261N	TREH_ENST00000264029.4_Silent_p.N261N|TREH_ENST00000397925.1_Silent_p.N230N|TREH_ENST00000525958.1_Silent_p.N230N|TREH_ENST00000530256.1_Silent_p.N138N			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	261					carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)	p.N138N(1)|p.N261N(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AGACAGTCCTGTTCTTGGTCC	0.547																																																	2	Substitution - coding silent(2)	kidney(2)											88.0	91.0	90.0					11																	118531943		1969	4154	6123	SO:0001819	synonymous_variant	11181			AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"""alpha,alpha-trehalase"", ""alpha,alpha-trehalose glucohydrolase"""	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.783C>T	11.37:g.118531943G>A			Q32MB9|Q53FY8	Silent	SNP	ENST00000529101.1	37																																																																																					0.547	TREH-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000389639.1		NM_007180	
TYK2	7297	broad.mit.edu;hgsc.bcm.edu	37	19	10476537	10476537	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:10476537T>C	ENST00000525621.1	-	7	1148	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	TYK2_ENST00000524462.1_Missense_Mutation_p.I38V|TYK2_ENST00000529370.1_Missense_Mutation_p.I223V|TYK2_ENST00000264818.6_Missense_Mutation_p.I223V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	223	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)	p.I223V(1)		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)			TGCTGCCGGATATGCCGGCGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											12.0	14.0	14.0					19																	10476537		2179	4262	6441	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.667A>G	19.37:g.10476537T>C	ENSP00000431885:p.Ile223Val		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.47|12.47	1.948775|1.948775	0.34377|0.34377	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	.|D;T;T;T	.|0.84660	.|-1.88;1.03;1.03;1.03	4.66|4.66	3.63|3.63	0.41609|0.41609	.|FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.351107|0.351107	0.22570|0.22570	N|N	0.058345|0.058345	D|D	0.85894|0.85894	0.5803|0.5803	M|M	0.82323|0.82323	2.585|2.585	0.48236|0.48236	D|D	0.999618|0.999618	.|P;P	.|0.47350	.|0.696;0.894	.|B;B	.|0.43575	.|0.254;0.424	D|D	0.85641|0.85641	0.1276|0.1276	6|10	.|0.87932	.|D	.|0	-22.8|-22.8	9.7288|9.7288	0.40348|0.40348	0.0:0.0:0.1744:0.8256|0.0:0.0:0.1744:0.8256	.|.	.|223;223	.|E9PPF2;P29597	.|.;TYK2_HUMAN	M|V	1|38;223;223;223	.|ENSP00000433203:I38V;ENSP00000431885:I223V;ENSP00000264818:I223V;ENSP00000432728:I223V	.|ENSP00000264818:I223V	I|I	-|-	3|1	3|0	TYK2|TYK2	10337537|10337537	1.000000|1.000000	0.71417|0.71417	0.767000|0.767000	0.31495|0.31495	0.154000|0.154000	0.21943|0.21943	5.478000|5.478000	0.66806|0.66806	0.798000|0.798000	0.33994|0.33994	0.459000|0.459000	0.35465|0.35465	ATA|ATC		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			
UBE2O	63893	hgsc.bcm.edu	37	17	74387548	74387549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:74387548_74387549insC	ENST00000319380.7	-	18	3418_3419	c.3354_3355insG	c.(3352-3357)cggcccfs	p.P1119fs		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1119					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ACCTCGGGGGGCCGCCGCACCA	0.599																																																	0																																										SO:0001589	frameshift_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3355dupG	17.37:g.74387550_74387550dupC	ENSP00000323687:p.Pro1119fs		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Frame_Shift_Ins	INS	ENST00000319380.7	37	CCDS32742.1																																																																																				0.599	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1		NM_022066	
UGT2B7	7364	hgsc.bcm.edu;ucsc.edu	37	4	69962480	69962483	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:69962480_69962483delTAAC	ENST00000508661.1	+	1	269_272	c.242_245delTAAC	c.(241-246)ttaactfs	p.LT81fs	UGT2B7_ENST00000305231.7_Frame_Shift_Del_p.LT81fs|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	81					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCACATCTTTAACTAAAACTGAG	0.368																																																	0																																										SO:0001589	frameshift_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.242_245delTAAC	4.37:g.69962480_69962483delTAAC	ENSP00000427659:p.Leu81fs		B2R810|Q6GTW0	Frame_Shift_Del	DEL	ENST00000508661.1	37																																																																																					0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1		NM_001074	
VEZF1	7716	broad.mit.edu;hgsc.bcm.edu	37	17	56058037	56058037	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:56058037G>T	ENST00000581208.1	-	4	943	c.903C>A	c.(901-903)atC>atA	p.I301I	VEZF1_ENST00000584396.1_Silent_p.I292I	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	301					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)	p.I301I(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGTGGCTGGTGATGTATGCTG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	126.0	138.0					17																	56058037		2203	4298	6501	SO:0001819	synonymous_variant	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.903C>A	17.37:g.56058037G>T				Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100533198	100533198	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:100533198A>C	ENST00000358544.2	+	30	4891	c.4780A>C	c.(4780-4782)Aat>Cat	p.N1594H	VPS13B_ENST00000357162.2_Missense_Mutation_p.N1569H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1594					protein transport (GO:0015031)			p.N1594H(1)|p.N1569H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAGGCTGACAATCCCCTTGG	0.398																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	kidney(2)											144.0	131.0	136.0					8																	100533198		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4780A>C	8.37:g.100533198A>C	ENSP00000351346:p.Asn1594His		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814457	0.70912	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.91011	-2.77;-2.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.95891	0.8907	10	0.87932	D	0	.	15.8728	0.79136	1.0:0.0:0.0:0.0	.	1569;1594	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	1569;1594	ENSP00000349685:N1569H;ENSP00000351346:N1594H	ENSP00000349685:N1569H	N	+	1	0	VPS13B	100602374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.432000	0.90288	2.128000	0.65567	0.455000	0.32223	AAT		0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	
WASL	8976	broad.mit.edu;ucsc.edu	37	7	123346339	123346339	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:123346339C>G	ENST00000223023.4	-	4	760	c.428G>C	c.(427-429)aGg>aCg	p.R143T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	143					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.R143T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCAGATTTCCTTTGTCGACG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	63.0					7																	123346339		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.428G>C	7.37:g.123346339C>G	ENSP00000223023:p.Arg143Thr		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327136	0.81690	.	.	ENSG00000106299	ENST00000223023	D	0.99730	-6.56	5.77	5.77	0.91146	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	M	0.65975	2.015	0.80722	D	1	P	0.52170	0.951	D	0.70935	0.971	D	0.98346	1.0541	10	0.72032	D	0.01	-14.0632	20.3627	0.98863	0.0:1.0:0.0:0.0	.	143	O00401	WASL_HUMAN	T	143	ENSP00000223023:R143T	ENSP00000223023:R143T	R	-	2	0	WASL	123133575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.885000	0.99019	0.655000	0.94253	AGG		0.353	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1		NM_003941	
ZC3HAV1	56829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138764442	138764442	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:138764442G>A	ENST00000242351.5	-	4	1561	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	ZC3HAV1_ENST00000471652.1_Silent_p.G415G|ZC3HAV1_ENST00000464606.1_Silent_p.G415G	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	415					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.G415G(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCCACTTTTGCCATTGATGA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	109.0	111.0					7																	138764442		2203	4300	6503	SO:0001819	synonymous_variant	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1245C>T	7.37:g.138764442G>A			A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																				0.473	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1		NM_020119	
ZNF141	7700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	367443	367443	+	Missense_Mutation	SNP	G	G	A	rs201015672		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:367443G>A	ENST00000240499.7	+	4	1366	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	406					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R406Q(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GCCTTTAGACGGTCCACAGAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											72.0	78.0	76.0					4																	367443		2203	4300	6503	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1217G>A	4.37:g.367443G>A	ENSP00000240499:p.Arg406Gln		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	7.503	0.652978	0.14580	.	.	ENSG00000131127	ENST00000240499	T	0.07567	3.18	1.24	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.11023	0.085	0.09310	N	1	B	0.31730	0.337	B	0.17433	0.018	T	0.43360	-0.9396	8	.	.	.	.	1.9778	0.03419	0.469:0.0:0.2655:0.2654	.	406	Q15928	ZN141_HUMAN	Q	406	ENSP00000240499:R406Q	.	R	+	2	0	ZNF141	357443	0.000000	0.05858	0.089000	0.20774	0.970000	0.65996	0.358000	0.20216	-0.228000	0.09869	0.313000	0.20887	CGG		0.403	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1		NM_003441	
ZBTB21	49854	broad.mit.edu;hgsc.bcm.edu	37	21	43413025	43413025	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr21:43413025C>T	ENST00000310826.5	-	3	1363	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	ZBTB21_ENST00000398511.3_Missense_Mutation_p.A394T|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A394T|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A394T|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	394					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.A394T(1)									TCATCTAGGGCTGTTTTTTCA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											79.0	82.0	81.0					21																	43413025		2203	4300	6503	SO:0001583	missense	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1180G>A	21.37:g.43413025C>T	ENSP00000308759:p.Ala394Thr		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778356	0.49786	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08634	3.39;3.07;3.07;3.07	5.95	4.16	0.48862	.	0.587641	0.17046	N	0.189140	T	0.10766	0.0263	L	0.57536	1.79	0.09310	N	1	B;B	0.19331	0.035;0.001	B;B	0.20184	0.028;0.003	T	0.15350	-1.0440	10	0.41790	T	0.15	-11.9161	10.7685	0.46308	0.0:0.798:0.0:0.202	.	394;394	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	T	394	ENSP00000381517:A394T;ENSP00000308759:A394T;ENSP00000381512:A394T;ENSP00000381523:A394T	ENSP00000308759:A394T	A	-	1	0	ZNF295	42286094	0.000000	0.05858	0.042000	0.18584	0.887000	0.51463	0.015000	0.13355	0.867000	0.35654	0.655000	0.94253	GCC		0.488	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1		NM_020727	
ZNF665	79788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53668435	53668435	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:53668435G>T	ENST00000600412.1	-	2	1228	c.1113C>A	c.(1111-1113)ggC>ggA	p.G371G	ZNF665_ENST00000396424.3_Silent_p.G436G|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G371G(1)|p.G436G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TAAAGGCTTTGCCACACTCAT	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											83.0	87.0	86.0					19																	53668435		2203	4300	6503	SO:0001819	synonymous_variant	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1113C>A	19.37:g.53668435G>T			A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																					0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1		NM_024733	
