#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
AACSP1	729522	broad.mit.edu	37	5	178192987	178192987	+	RNA	DEL	A	A	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:178192987delA	ENST00000503486.2	-	0	1696					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		TGGGAACAATAAATCTAGCAG	0.532																																																	0																																												0					5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178192987delA				RNA	DEL	ENST00000503486.2	37																																																																																					0.532	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2		NR_024035	
IGHV3-22	28443	broad.mit.edu	37	14	106714600	106714600	+	IGR	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr14:106714600G>A								IGHV3-21 (22397 upstream) : IGHV3-23 (10600 downstream)																							GGCTGCACAGGAGAGTCTCAG	0.562																																																	0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106714600G>A				RNA	SNP		37																																																																																				0	0.562									
ATP13A5	344905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193039503	193039503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:193039503C>A	ENST00000342358.4	-	16	1999	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	628						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E628*(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCACCATTTCTGGGGCACCT	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)											77.0	75.0	76.0					3																	193039503		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1882G>T	3.37:g.193039503C>A	ENSP00000341942:p.Glu628*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	41	8.960551	0.99018	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1569	18.6639	0.91481	0.0:1.0:0.0:0.0	.	.	.	.	X	628	.	ENSP00000341942:E628X	E	-	1	0	ATP13A5	194522197	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.353000	0.79414	2.760000	0.94817	0.655000	0.94253	GAA		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		NM_198505	
SPDL1	54908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169028336	169028336	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:169028336T>A	ENST00000265295.4	+	11	1656	c.1377T>A	c.(1375-1377)gaT>gaA	p.D459E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.D459E(1)									TCCCTGTGGATATAACCACCG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											98.0	101.0	100.0					5																	169028336		2203	4300	6503	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1377T>A	5.37:g.169028336T>A	ENSP00000265295:p.Asp459Glu			Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472142	0.43942	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.33865	1.39	5.77	4.61	0.57282	.	0.051587	0.64402	D	0.000001	T	0.43033	0.1229	L	0.50333	1.59	0.27561	N	0.950194	B;D;D	0.55385	0.208;0.971;0.971	B;P;P	0.57244	0.063;0.816;0.816	T	0.26258	-1.0108	10	0.15952	T	0.53	-19.1534	9.566	0.39398	0.0:0.1412:0.0:0.8588	.	381;360;459	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	E	459;360	ENSP00000265295:D459E	ENSP00000265295:D459E	D	+	3	2	CCDC99	168960914	0.467000	0.25831	0.874000	0.34290	0.484000	0.33280	0.609000	0.24238	1.012000	0.39366	0.529000	0.55759	GAT		0.453	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2		NM_017785	
CENPW	387103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	126667412	126667412	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:126667412G>C	ENST00000368328.4	+	2	288	c.188G>C	c.(187-189)tGt>tCt	p.C63S	CENPW_ENST00000368326.1_Missense_Mutation_p.V50L|CENPW_ENST00000368325.1_Missense_Mutation_p.C78S			Q5EE01	CENPW_HUMAN	centromere protein W	63					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C63S(1)		kidney(2)|large_intestine(1)|lung(3)	6						ACAAACGCTTGTGCGAGTAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											120.0	114.0	116.0					6																	126667412		2203	4300	6503	SO:0001583	missense	387103			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.188G>C	6.37:g.126667412G>C	ENSP00000357311:p.Cys63Ser		A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	CCDS34529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467679|1.467679	0.26335|0.26335	.|.	.|.	ENSG00000203760|ENSG00000203760	ENST00000368325;ENST00000368328|ENST00000368326	T|.	0.20463|.	2.07|.	5.61|5.61	3.64|3.64	0.41730|0.41730	Histone-fold (1);|.	0.327933|.	0.22516|.	N|.	0.059022|.	T|T	0.45756|0.45756	0.1358|0.1358	.|.	.|.	.|.	0.32808|0.32808	D|D	0.501076|0.501076	B|.	0.14012|.	0.009|.	B|.	0.12156|.	0.007|.	T|T	0.51236|0.51236	-0.8731|-0.8731	9|5	0.48119|0.87932	T|D	0.1|0	-11.33|-11.33	10.2052|10.2052	0.43109|0.43109	0.0:0.0:0.5621:0.4379|0.0:0.0:0.5621:0.4379	.|.	63|.	Q5EE01|.	CENPW_HUMAN|.	S|L	78;63|50	ENSP00000357311:C63S|.	ENSP00000357308:C78S|ENSP00000357309:V50L	C|V	+|+	2|1	0|0	CENPW|CENPW	126709105|126709105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	1.522000|1.522000	0.35921|0.35921	1.344000|1.344000	0.45657|0.45657	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.368	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			
CHFR	55743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133454165	133454165	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr12:133454165C>T	ENST00000432561.2	-	3	282	c.209G>A	c.(208-210)gGt>gAt	p.G70D	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.G70D|CHFR_ENST00000266880.7_Missense_Mutation_p.G70D|CHFR_ENST00000450056.2_Missense_Mutation_p.G70D|CHFR_ENST00000443047.2_Missense_Mutation_p.G70D			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	70	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G70D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTCACCTGACCTGATTTTTC	0.453																																																	2	Substitution - Missense(2)	kidney(2)											143.0	131.0	135.0					12																	133454165		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.209G>A	12.37:g.133454165C>T	ENSP00000392395:p.Gly70Asp		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196553	0.94960	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.46	5.46	0.80206	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	L	0.38733	1.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.91742	0.5405	10	0.72032	D	0.01	-28.4254	19.4053	0.94646	0.0:1.0:0.0:0.0	.	70;70;70;70;70	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	D	70	ENSP00000320557:G70D;ENSP00000416431:G70D;ENSP00000398735:G70D;ENSP00000266880:G70D;ENSP00000392395:G70D;ENSP00000441837:G70D	ENSP00000266880:G70D	G	-	2	0	CHFR	131964238	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.873000	0.75541	2.579000	0.87056	0.558000	0.71614	GGT		0.453	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154018911	154018911	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:154018911A>T	ENST00000496811.1	-	10	1303	c.1223T>A	c.(1222-1224)gTt>gAt	p.V408D	DHX36_ENST00000329463.5_Missense_Mutation_p.V408D|DHX36_ENST00000544526.1_Missense_Mutation_p.V408D|DHX36_ENST00000308361.6_Missense_Mutation_p.V408D	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	408					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.V408D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGTTCTGGAACATACCTAAA	0.289																																																	1	Substitution - Missense(1)	kidney(1)											65.0	67.0	66.0					3																	154018911		2203	4298	6501	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1223T>A	3.37:g.154018911A>T	ENSP00000417078:p.Val408Asp		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639702	0.29157	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.89	3.58	0.41010	.	0.849906	0.11034	N	0.606925	T	0.12944	0.0314	L	0.43701	1.375	0.44508	D	0.997459	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.13407	0.009;0.009;0.004	T	0.05801	-1.0863	10	0.33940	T	0.23	.	9.6936	0.40143	0.8552:0.0:0.1448:0.0	.	408;408;408	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	D	408;408;408;408;322	ENSP00000417078:V408D;ENSP00000309296:V408D;ENSP00000444247:V408D;ENSP00000330113:V408D;ENSP00000419862:V322D	ENSP00000309296:V408D	V	-	2	0	DHX36	155501605	0.884000	0.30299	1.000000	0.80357	0.962000	0.63368	0.559000	0.23485	2.250000	0.74265	0.455000	0.32223	GTT		0.289	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865	
EPS15	2060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	51887534	51887534	+	Intron	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:51887534G>C	ENST00000371733.3	-	13	1137				EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTTTCCCTAGAAGACCAGCA	0.368			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(1)|Unknown(1)	kidney(1)|central_nervous_system(1)											131.0	114.0	119.0					1																	51887534		2202	4299	6501	SO:0001627	intron_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1041-4C>G	1.37:g.51887534G>C			B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1																																																																																				0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981	
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171956945	171956945	+	Splice_Site	SNP	G	G	A	rs371617456		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:171956945G>A	ENST00000355305.5	+	3	542	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	DNM3_ENST00000520906.1_Splice_Site_p.V129M|DNM3_ENST00000367731.1_Splice_Site_p.V129M|DNM3_ENST00000367733.2_Splice_Site_p.V129M|DNM3_ENST00000358155.4_Splice_Site_p.V129M			Q9UQ16	DYN3_HUMAN	dynamin 3	129	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V129M(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCCCCACACGGTAAGTAAAA	0.348																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL	0,3650		0,0,1825	96.0	101.0	99.0		385,385	5.3	1.0	1		99	1,8153		0,1,4076	no	missense-near-splice,missense-near-splice	DNM3	NM_001136127.1,NM_015569.3	21,21	0,1,5901	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging,probably-damaging	129/860,129/864	171956945	1,11803	1825	4077	5902	SO:0001630	splice_region_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.385+1G>A	1.37:g.171956945G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535248	0.85812	0.0	1.23E-4	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.27	5.27	0.74061	.	0.057000	0.64402	D	0.000001	D	0.98738	0.9576	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.999;1.0	P;D;D;D	0.71414	0.883;0.925;0.914;0.973	D	0.99679	1.0998	10	0.72032	D	0.01	.	17.4722	0.87649	0.0:0.0:1.0:0.0	.	129;129;129;129	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	M	129;129;129;129;129;129;19	ENSP00000350876:V129M;ENSP00000356707:V129M;ENSP00000347457:V129M;ENSP00000356705:V129M;ENSP00000429701:V129M;ENSP00000429416:V19M	ENSP00000347457:V129M	V	+	1	0	DNM3	170223568	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.731000	0.98807	2.455000	0.83008	0.655000	0.94253	GTG		0.348	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569	Missense_Mutation
FAM114A2	10827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153372626	153372626	+	Silent	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:153372626G>C	ENST00000351797.4	-	14	1504	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	FAM114A2_ENST00000522858.1_Silent_p.L476L|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.L406L|FAM114A2_ENST00000520667.1_Silent_p.L476L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	476							purine nucleotide binding (GO:0017076)	p.L476L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GCACAGGTAAGAGTAGCTGAA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	112.0	114.0					5																	153372626		2203	4300	6503	SO:0001819	synonymous_variant	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1428C>G	5.37:g.153372626G>C			B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	CCDS4323.1																																																																																				0.398	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1		NM_018691	
ERICH6B	220081	hgsc.bcm.edu	37	13	46170720	46170737	+	In_Frame_Del	DEL	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	-	rs373081063|rs117004691|rs28548352|rs142875900|rs28460344|rs45625342|rs375947127	byFrequency	TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr13:46170720_46170737delCCAGATACTCTTCCTCCT	ENST00000298738.2	-	3	568_585	c.404_421delAGGAGGAAGAGTATCTGG	c.(403-423)gaggaggaagagtatctgggg>ggg	p.EEEEYL135del		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCTTCCTTCCCCAGATActcttcctcctccagatgctc	0.486														1379	0.275359	0.1362	0.4308	5008	,	,		23489	0.1607		0.493	False		,,,				2504	0.2474																0										414,2088		68,278,905						-4.5	0.0		dbSNP_134	119	2412,2596		704,1004,796	no	coding	FAM194B	NM_182542.2		772,1282,1701	A1A1,A1R,RR		48.1629,16.5468,37.6298				2826,4684				SO:0001651	inframe_deletion	220081																														ENST00000298738.2:c.404_421delAGGAGGAAGAGTATCTGG	13.37:g.46170720_46170737delCCAGATACTCTTCCTCCT	ENSP00000298738:p.Glu135_Leu140del		Q96MB5	In_Frame_Del	DEL	ENST00000298738.2	37	CCDS45045.1																																																																																				0.486	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3			
FARP1	10160	broad.mit.edu;ucsc.edu	37	13	99083480	99083480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr13:99083480G>T	ENST00000319562.6	+	18	2354	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.E697*|FARP1_ENST00000376586.2_Nonsense_Mutation_p.E697*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	697	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E697*(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCAGGTCCTGGAGCGGCTGTG	0.622																																																	2	Substitution - Nonsense(2)	kidney(2)											18.0	18.0	18.0					13																	99083480		2202	4300	6502	SO:0001587	stop_gained	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2089G>T	13.37:g.99083480G>T	ENSP00000322926:p.Glu697*		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	45	11.605384	0.99582	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.58	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.3189	0.66470	0.0715:0.0:0.9285:0.0	.	.	.	.	X	697	.	ENSP00000322926:E697X	E	+	1	0	FARP1	97881481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.531000	0.81973	1.345000	0.45676	0.555000	0.69702	GAG		0.622	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766	
FCGBP	8857	broad.mit.edu	37	19	40383839	40383840	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:40383839_40383840insGT	ENST00000221347.6	-	21	9777_9778	c.9770_9771insAC	c.(9769-9771)ctcfs	p.L3257fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3257						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGATGGCAGGAGGCCACACAC	0.668																																																	0																																										SO:0001589	frameshift_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9770_9771insAC	19.37:g.40383839_40383840insGT	ENSP00000221347:p.Leu3257fs		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	CCDS12546.1																																																																																				0.668	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890	
FMN2	56776	hgsc.bcm.edu	37	1	240370966	240370998	+	In_Frame_Del	DEL	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	-	rs201866430|rs144739133|rs142178619|rs200503778|rs200886762|rs199866405|rs111896385|rs201221641|rs529662001|rs367627381|rs372401580|rs562360130|rs145005157	byFrequency	TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:240370966_240370998delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	ENST00000319653.9	+	5	3084_3116	c.2854_2886delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	c.(2854-2886)gcaataccccctccgccccctcttcccggggcadel	p.AIPPPPPLPGA952del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	952	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099L(2)|p.P1099P(1)|p.P1099T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCGGAGCGGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCAGGCATACCCC	0.7																																																	4	Substitution - Missense(3)|Substitution - coding silent(1)	endometrium(2)|lung(1)|kidney(1)																																								SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2854_2886delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	1.37:g.240370966_240370998delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	ENSP00000318884:p.Ala952_Ala962del		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.700	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GAP43	2596	broad.mit.edu;ucsc.edu	37	3	115394971	115394971	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:115394971A>G	ENST00000305124.6	+	2	508	c.142A>G	c.(142-144)Agg>Ggg	p.R48G	GAP43_ENST00000393780.3_Missense_Mutation_p.R84G	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	48	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R48G(1)|p.R84G(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACACATAACAAGGAAAAAGCT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											95.0	96.0	96.0					3																	115394971		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.142A>G	3.37:g.115394971A>G	ENSP00000305010:p.Arg48Gly		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732332	0.69189	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.65732	-0.17;-0.17	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.90198	3.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86500	0.1803	10	0.87932	D	0	-11.3686	14.9547	0.71104	1.0:0.0:0.0:0.0	.	84;48	A8K0Y4;P17677	.;NEUM_HUMAN	G	48;84	ENSP00000305010:R48G;ENSP00000377372:R84G	ENSP00000305010:R48G	R	+	1	2	GAP43	116877661	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.357000	0.73051	2.171000	0.68590	0.533000	0.62120	AGG		0.453	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2		NM_002045	
GDF5	8200	broad.mit.edu;ucsc.edu	37	20	34021789	34021789	+	Missense_Mutation	SNP	C	C	T	rs121909347		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:34021789C>T	ENST00000374372.1	-	4	1927	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Missense_Mutation_p.S475N			P43026	GDF5_HUMAN	growth differentiation factor 5	475			S -> N (in SYNS2). {ECO:0000269|Ref.11}.		cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.S475N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GAAGAGGATGCTGATGGGACT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											122.0	107.0	112.0					20																	34021789		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1424G>A	20.37:g.34021789C>T	ENSP00000363492:p.Ser475Asn		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401952	0.83120	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.89875	-2.58;-2.58	4.68	4.68	0.58851	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.79805	2.47	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95333	0.8431	9	0.87932	D	0	.	17.7696	0.88487	0.0:1.0:0.0:0.0	.	475;475	F1T0J1;P43026	.;GDF5_HUMAN	N	475	ENSP00000363489:S475N;ENSP00000363492:S475N	ENSP00000363489:S475N	S	-	2	0	GDF5	33485203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.639000	0.83342	2.401000	0.81631	0.555000	0.69702	AGC		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			
GDF6	392255	broad.mit.edu	37	8	97172667	97172668	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr8:97172667_97172668insA	ENST00000287020.5	-	1	352_353	c.253_254insT	c.(253-255)ccgfs	p.P85fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	85					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCTGCCTGGCGGCTCCTGCGCC	0.688																																																	0																																										SO:0001589	frameshift_variant	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.253_254insT	8.37:g.97172667_97172668insA	ENSP00000287020:p.Pro85fs		Q6PI58	Frame_Shift_Ins	INS	ENST00000287020.5	37	CCDS34926.1																																																																																				0.688	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2		NM_001001557	
HIST4H4	121504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14923794	14923794	+	Silent	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr12:14923794C>T	ENST00000539745.1	-	1	271	c.225G>A	c.(223-225)gaG>gaA	p.E75E	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	75					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E75E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GCTTGGCGTGCTCCGTGTAAG	0.602											OREG0021698	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)											105.0	87.0	93.0					12																	14923794		2203	4300	6503	SO:0001819	synonymous_variant	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.225G>A	12.37:g.14923794C>T		698	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	CCDS8665.1																																																																																				0.602	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1		NM_175054	
IARS2	55699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220316404	220316404	+	Silent	SNP	C	C	T	rs113314730		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:220316404C>T	ENST00000302637.5	+	21	2783	c.2679C>T	c.(2677-2679)atC>atT	p.I893I	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Silent_p.I821I	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	893					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.I893I(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTGGAAGCATCCCTGGCAAAA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	142.0	146.0					1																	220316404		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2679C>T	1.37:g.220316404C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																				0.438	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018060	
IGSF22	283284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18738324	18738324	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:18738324G>A	ENST00000513874.1	-	10	1336	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	399								p.F399F(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTCAGCAGAGAACTCGCCGC	0.542																																																	2	Substitution - coding silent(2)	kidney(2)											138.0	136.0	137.0					11																	18738324		2001	4171	6172	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1197C>T	11.37:g.18738324G>A			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2		NM_173588	
IL18RAP	8807	hgsc.bcm.edu;ucsc.edu	37	2	103067362	103067362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr2:103067362delG	ENST00000264260.2	+	11	1854	c.1265delG	c.(1264-1266)agtfs	p.S422fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.S280fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	422	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTTTTCCAAGTGAGGCCACT	0.348																																																	0													108.0	118.0	114.0					2																	103067362		2203	4300	6503	SO:0001589	frameshift_variant	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1265delG	2.37:g.103067362delG	ENSP00000264260:p.Ser422fs		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Frame_Shift_Del	DEL	ENST00000264260.2	37	CCDS2061.1																																																																																				0.348	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853	
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10364568	10364568	+	Intron	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:10364568T>C	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Silent_p.L1109L|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.L1109L			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L1109L(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGGTCAGTTAGAGGGCAA	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	54.0	55.0					1																	10364568		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7264T>C	1.37:g.10364568T>C			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																					0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
KLK3	354	broad.mit.edu	37	19	51361427	51361427	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:51361427T>C	ENST00000326003.2	+	3	390	c.349T>C	c.(349-351)Tcc>Ccc	p.S117P	KLK3_ENST00000360617.3_Missense_Mutation_p.S117P|KLK3_ENST00000597483.1_Missense_Mutation_p.S74P|KLK3_ENST00000595952.1_Missense_Mutation_p.S74P|KLK3_ENST00000593997.1_Missense_Mutation_p.S117P	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S117P(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGACTCCAGCCACGA	0.597																																					Colon(185;1767 2023 13025 30120 37630)												2	Substitution - Missense(2)	kidney(2)											87.0	71.0	76.0					19																	51361427		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.349T>C	19.37:g.51361427T>C	ENSP00000314151:p.Ser117Pro		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711653	0.30322	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	T;T	0.06294	3.32;3.32	2.31	-4.63	0.03359	.	0.994006	0.08146	N	0.990812	T	0.04724	0.0128	N	0.10809	0.05	0.09310	N	0.999999	P;P;P	0.52577	0.829;0.954;0.795	P;P;B	0.49953	0.625;0.627;0.3	T	0.17899	-1.0354	10	0.66056	D	0.02	.	4.5853	0.12279	0.4748:0.3487:0.0:0.1765	.	117;117;74	Q8NCW4;G3XAE3;G3V0H4	.;.;.	P	117;74;117;117	ENSP00000314151:S117P;ENSP00000353829:S117P	ENSP00000314151:S117P	S	+	1	0	KLK3	56053239	0.010000	0.17322	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	-1.899000	0.01098	-0.672000	0.03802	TCC		0.597	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1		NM_145864	
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21417039	21417039	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr18:21417039G>A	ENST00000313654.9	+	25	3320	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1027T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1027	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A1027T(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGACACATGGCCCGATTCCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											92.0	92.0	92.0					18																	21417039		2053	4214	6267	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3079G>A	18.37:g.21417039G>A	ENSP00000324532:p.Ala1027Thr		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973463	0.18736	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19105	2.19;2.17	5.92	5.92	0.95590	.	.	.	.	.	T	0.22360	0.0539	M	0.62723	1.935	0.28431	N	0.917259	B;B	0.31680	0.198;0.335	B;B	0.28139	0.041;0.086	T	0.14227	-1.0480	9	0.48119	T	0.1	.	9.213	0.37331	0.1204:0.0:0.8796:0.0	.	1027;1027	Q6VU67;Q16787	.;LAMA3_HUMAN	T	1027;1027;1025	ENSP00000324532:A1027T;ENSP00000382432:A1027T	ENSP00000324532:A1027T	A	+	1	0	LAMA3	19671037	0.073000	0.21202	0.510000	0.27712	0.011000	0.07611	2.423000	0.44705	2.818000	0.97014	0.655000	0.94253	GCC		0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154183854	154183854	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:154183854A>T	ENST00000336314.4	+	14	2326	c.2302A>T	c.(2302-2304)Act>Tct	p.T768S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	845					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T845S(1)|p.T768S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGCCCCGTACTGCTTCCAT	0.547																																																	2	Substitution - Missense(2)	kidney(2)											105.0	104.0	104.0					5																	154183854		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2302A>T	5.37:g.154183854A>T	ENSP00000336721:p.Thr768Ser		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.91|18.91	3.722838|3.722838	0.68959|0.68959	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314|ENST00000522272	T|.	0.23552|.	1.9|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.089561|.	0.85682|.	D|.	0.000000|.	T|T	0.70613|0.70613	0.3244|0.3244	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B;P|.	0.40302|.	0.402;0.712|.	B;B|.	0.38683|.	0.145;0.279|.	T|T	0.67829|0.67829	-0.5569|-0.5569	10|5	0.31617|.	T|.	0.26|.	-12.5135|-12.5135	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	845;768|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	S|F	768|25	ENSP00000336721:T768S|.	ENSP00000336721:T768S|.	T|Y	+|+	1|2	0|0	LARP1|LARP1	154164047|154164047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.370000|7.370000	0.79589|0.79589	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551	
SRRM2-AS1	100128788	broad.mit.edu	37	16	2787095	2787095	+	RNA	DEL	T	T	-	rs369607541		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr16:2787095delT	ENST00000382313.2	-	0	3519				SRRM2-AS1_ENST00000571305.1_RNA|SRRM2-AS1_ENST00000577055.1_RNA|SRRM2-AS1_ENST00000573802.1_RNA					SRRM2 antisense RNA 1																		AATTTTTGTGTTTTTTTTTAA	0.443																																																	0																																												0			AK056063		16p13.3	2012-10-12	2012-08-15		ENSG00000205913	ENSG00000205913		"""Long non-coding RNAs"""	44162	non-coding RNA	RNA, long non-coding			"""SRRM2 antisense RNA 1 (non-protein coding)"""				Standard	NR_027274		Approved		uc010uwg.1		OTTHUMG00000177357		16.37:g.2787095delT				RNA	DEL	ENST00000382313.2	37																																																																																					0.443	SRRM2-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000436407.1		NR_027274	
LINC01102	150568	broad.mit.edu	37	2	105128744	105128744	+	lincRNA	DEL	A	A	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr2:105128744delA	ENST00000451400.1	+	0	2798				AC068535.4_ENST00000430551.2_lincRNA																							TTTGgaaaagaaaaaaaaaag	0.468																																																	0																																												150568																															2.37:g.105128744delA				RNA	DEL	ENST00000451400.1	37																																																																																					0.468	AC013402.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000329242.1			
TMEM254-AS1	219347	broad.mit.edu	37	10	81808001	81808001	+	RNA	DEL	T	T	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr10:81808001delT	ENST00000412298.1	-	0	1735				TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA	NR_027428.1				TMEM254 antisense RNA 1																		TGCAGAGCCCTTTTCCTCAGG	0.537																																																	0																																												0					10q22.3	2012-11-15			ENSG00000230091	ENSG00000230091		"""Long non-coding RNAs"""	27340	non-coding RNA	RNA, long non-coding							Standard	NR_027428		Approved		uc001kbi.4		OTTHUMG00000018601		10.37:g.81808001delT				RNA	DEL	ENST00000412298.1	37																																																																																					0.537	TMEM254-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000049027.1			
LRWD1	222229	broad.mit.edu	37	7	102108803	102108803	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr7:102108803T>A	ENST00000292616.5	+	7	1050	c.898T>A	c.(898-900)Ttc>Atc	p.F300I	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	300					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.F300I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCCTGTGCCTTCGAGCCGGC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											23.0	26.0	25.0					7																	102108803		2201	4294	6495	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.898T>A	7.37:g.102108803T>A	ENSP00000292616:p.Phe300Ile		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705598	0.68615	.	.	ENSG00000161036	ENST00000292616	T	0.74315	-0.83	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	M	0.74467	2.265	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	D	0.86752	0.1961	10	0.66056	D	0.02	0.7953	14.1185	0.65172	0.0:0.0:0.0:1.0	.	300	Q9UFC0	LRWD1_HUMAN	I	300	ENSP00000292616:F300I	ENSP00000292616:F300I	F	+	1	0	LRWD1	101895808	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.990000	0.76225	2.117000	0.64856	0.459000	0.35465	TTC		0.672	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1		NM_152892	
MAML2	84441	hgsc.bcm.edu	37	11	95825383	95825383	+	Silent	SNP	C	C	T	rs113349418|rs141671766|rs60727839	byFrequency	TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:95825383C>T	ENST00000524717.1	-	2	3096	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	604					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gttgctgctgctgctgctgct	0.527			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													19.0	23.0	22.0					11																	95825383		1910	3681	5591	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1812G>A	11.37:g.95825383C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	65132766	65132766	+	Intron	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr10:65132766C>G	ENST00000399262.2	-	2	552				MIR1296_ENST00000408136.1_RNA|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAAGGTTTTCCTAAAGGAGA	0.488																																																	0													32.0	33.0	33.0					10																	65132766		1561	3568	5129	SO:0001627	intron_variant	100302150			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.333+7311G>C	10.37:g.65132766C>G			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	RNA	SNP	ENST00000399262.2	37	CCDS41532.1																																																																																				0.488	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241	
KMT2C	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151873651	151873651	+	Missense_Mutation	SNP	G	G	A	rs187761353		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr7:151873651G>A	ENST00000262189.6	-	38	9105	c.8887C>T	c.(8887-8889)Cgt>Tgt	p.R2963C	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2963C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2963					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R2963C(2)									TCCAAAACACGGCCAGGCGGT	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21084	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)						G	CYS/ARG	0,4406		0,0,2203	43.0	47.0	45.0		8887	5.6	0.4	7		45	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MLL3	NM_170606.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2963/4912	151873651	1,13005	2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8887C>T	7.37:g.151873651G>A	ENSP00000262189:p.Arg2963Cys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.70|10.70	1.423870|1.423870	0.25639|0.25639	0.0|0.0	1.16E-4|1.16E-4	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83673	.|-1.75;-1.75	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.682462	.|0.12695	.|N	.|0.446809	T|T	0.70386|0.70386	0.3218|0.3218	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49447	.|0.705;0.924;0.924	.|B;B;B	.|0.36885	.|0.01;0.235;0.235	T|T	0.76854|0.76854	-0.2805|-0.2805	5|10	.|0.62326	.|D	.|0.03	.|.	19.5508|19.5508	0.95319|0.95319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2963;2024;2963	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	L|C	468|2963	.|ENSP00000262189:R2963C;ENSP00000347325:R2963C	.|ENSP00000262189:R2963C	P|R	-|-	2|1	0|0	MLL3|MLL3	151504584|151504584	0.993000|0.993000	0.37304|0.37304	0.420000|0.420000	0.26596|0.26596	0.747000|0.747000	0.42532|0.42532	5.524000|5.524000	0.67105|0.67105	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
MUC21	394263	hgsc.bcm.edu	37	6	30955191	30955211	+	In_Frame_Del	DEL	GTCCAGTGGGGCCAGCACTGC	GTCCAGTGGGGCCAGCACTGC	-	rs2429294|rs56582998|rs56644482|rs2429293|rs2508018|rs56557913|rs2429292|rs56572740|rs55803740	byFrequency	TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	GTCCAGTGGGGCCAGCACTGC	GTCCAGTGGGGCCAGCACTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:30955191_30955211delGTCCAGTGGGGCCAGCACTGC	ENST00000376296.3	+	2	1480_1500	c.1239_1259delGTCCAGTGGGGCCAGCACTGC	c.(1237-1260)gtgtccagtggggccagcactgcc>gtc	p.SSGASTA414del	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	414	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGCACAGTGTCCAGTGGGGCCAGCACTGCCACCAATTCT	0.62																																																	0																																										SO:0001651	inframe_deletion	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1239_1259delGTCCAGTGGGGCCAGCACTGC	6.37:g.30955191_30955211delGTCCAGTGGGGCCAGCACTGC	ENSP00000365473:p.Ser414_Ala420del		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	In_Frame_Del	DEL	ENST00000376296.3	37	CCDS34388.1																																																																																				0.620	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909	
NACAD	23148	hgsc.bcm.edu;ucsc.edu	37	7	45120732	45120734	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	ACC	ACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr7:45120732_45120734delACC	ENST00000490531.2	-	5	4405_4407	c.4386_4388delGGT	c.(4384-4389)gtggtc>gtc	p.1462_1463VV>V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1462	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CTCGCCAAAGACCACATAAGTGT	0.567																																																	0																																										SO:0001651	inframe_deletion	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4386_4388delGGT	7.37:g.45120732_45120734delACC	ENSP00000420477:p.Val1463del			In_Frame_Del	DEL	ENST00000490531.2	37	CCDS47582.1																																																																																				0.567	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2		NM_001146334	
NEU3	10825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74717078	74717078	+	Silent	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:74717078A>T	ENST00000544263.1	+	4	998	c.828A>T	c.(826-828)ccA>ccT	p.P276P	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Silent_p.P309P|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Silent_p.P200P|NEU3_ENST00000531509.1_Silent_p.P309P			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	276					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.P309P(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTGAGCCCCCACATGGTTGCC	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	49.0	48.0					11																	74717078		1962	4145	6107	SO:0001819	synonymous_variant	10825			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.828A>T	11.37:g.74717078A>T			A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37																																																																																					0.597	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_006656	
NFAT5	10725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69725994	69725995	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr16:69725994_69725995TC>AA	ENST00000354436.2	+	12	2530_2531	c.2212_2213TC>AA	c.(2212-2214)TCa>AAa	p.S738K	NFAT5_ENST00000349945.1_Missense_Mutation_p.S662K|NFAT5_ENST00000567239.1_Missense_Mutation_p.S755K|NFAT5_ENST00000432919.1_Missense_Mutation_p.S756K|NFAT5_ENST00000566899.1_Missense_Mutation_p.S662K|NFAT5_ENST00000393742.2_Missense_Mutation_p.S662K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	738					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S662T(1)|p.S756*(1)|p.S756T(1)|p.S662*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GACTGAGGCATCACAACAACAG	0.411																																																	4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)																																								SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	Exception_encountered	16.37:g.69725994_69725995delinsAA	ENSP00000346420:p.Ser738Lys		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1																																																																																				0.411	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714	
NMUR2	56923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:151784061G>A	ENST00000255262.3	-	1	779	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)											173.0	166.0	169.0					5																	151784061		2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.614C>T	5.37:g.151784061G>A	ENSP00000255262:p.Thr205Met		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083741	0.08533	.	.	ENSG00000132911	ENST00000255262	T	0.38077	1.16	5.44	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.370788	0.28198	N	0.016226	T	0.28134	0.0694	L	0.45698	1.435	0.09310	N	1	P	0.40398	0.716	B	0.35655	0.207	T	0.10337	-1.0634	10	0.45353	T	0.12	0.2937	9.1507	0.36962	0.0759:0.0:0.767:0.1571	.	205	Q9GZQ4	NMUR2_HUMAN	M	205	ENSP00000255262:T205M	ENSP00000255262:T205M	T	-	2	0	NMUR2	151764254	0.998000	0.40836	0.001000	0.08648	0.057000	0.15508	4.073000	0.57570	0.622000	0.30249	-0.237000	0.12165	ACG		0.542	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1		NM_020167	
OR2A4	79541	hgsc.bcm.edu	37	6	132021904	132021904	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:132021904A>G	ENST00000315453.2	-	1	731	c.638T>C	c.(637-639)aTt>aCt	p.I213T	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	213					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGAAACTACAATTGTGGACAA	0.493																																																	0													14.0	19.0	17.0					6																	132021904		1785	4239	6024	SO:0001583	missense	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.638T>C	6.37:g.132021904A>G	ENSP00000319546:p.Ile213Thr		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	9.323	1.058623	0.19987	.	.	ENSG00000180658	ENST00000315453	T	0.00309	8.16	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.432511	0.16964	U	0.192418	T	0.00073	0.0002	L	0.50847	1.595	0.27130	N	0.961926	B	0.16603	0.018	B	0.25140	0.058	T	0.43637	-0.9379	10	0.66056	D	0.02	.	4.1376	0.10178	0.7977:0.0:0.2023:0.0	.	213	O95047	OR2A4_HUMAN	T	213	ENSP00000319546:I213T	ENSP00000319546:I213T	I	-	2	0	OR2A4	132063597	0.232000	0.23762	0.013000	0.15412	0.000000	0.00434	4.450000	0.60041	0.873000	0.35799	0.000000	0.15137	ATT		0.493	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1		NM_030908	
OR52A5	390054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5152922	5152922	+	Splice_Site	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:5152922T>C	ENST00000307388.1	-	1	950	c.951A>G	c.(949-951)tgA>tgG	p.*317W		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	0					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*317W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCACTAACGATCAAGTTACTT	0.348																																																	1	Nonstop extension(1)	kidney(1)											56.0	55.0	55.0					11																	5152922		2201	4298	6499	SO:0001630	splice_region_variant	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.948+1A>G	11.37:g.5152922T>C				Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292839	0.23564	.	.	ENSG00000171944	ENST00000307388	.	.	.	4.6	0.975	0.19721	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4996	0.02474	0.1406:0.1657:0.1453:0.5483	.	.	.	.	W	317	.	.	X	-	3	0	OR52A5	5109498	0.003000	0.15002	0.003000	0.11579	0.006000	0.05464	-0.260000	0.08708	0.000000	0.14550	-0.250000	0.11733	TGA		0.348	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1		NM_001005160	Nonstop_Mutation
PACSIN2	11252	broad.mit.edu;hgsc.bcm.edu	37	22	43287181	43287181	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr22:43287181C>G	ENST00000263246.3	-	4	426	c.225G>C	c.(223-225)caG>caC	p.Q75H	PACSIN2_ENST00000403744.3_Missense_Mutation_p.Q75H|PACSIN2_ENST00000407585.1_Missense_Mutation_p.Q75H|PACSIN2_ENST00000337959.4_Missense_Mutation_p.Q75H|PACSIN2_ENST00000402229.1_Missense_Mutation_p.Q75H	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	75	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.Q75H(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGGTCCCGTACTGGGGCCCTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											30.0	30.0	30.0					22																	43287181		2041	4206	6247	SO:0001583	missense	11252			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.225G>C	22.37:g.43287181C>G	ENSP00000263246:p.Gln75His		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608965	0.66558	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	4.63	3.61	0.41365	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.39522	-0.9610	10	0.72032	D	0.01	-1.2686	11.2349	0.48933	0.0:0.8567:0.0:0.1433	.	75;75	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	H	75	ENSP00000263246:Q75H;ENSP00000338379:Q75H;ENSP00000385952:Q75H;ENSP00000385372:Q75H;ENSP00000385040:Q75H;ENSP00000398573:Q75H;ENSP00000396816:Q75H;ENSP00000403435:Q75H	ENSP00000263246:Q75H	Q	-	3	2	PACSIN2	41617125	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.577000	0.36515	2.572000	0.86782	0.542000	0.68232	CAG		0.617	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1		NM_007229	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144931293	144931293	+	Intron	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:144931293T>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E139V|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E139V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E139V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACCCAGCACTCAAACCCTGA	0.582			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - Missense(1)	kidney(1)											150.0	147.0	148.0					1																	144931293		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7472A>T	1.37:g.144931293T>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111768	0.77210	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.34859	1.34;1.38	5.3	5.3	0.74995	.	.	.	.	.	T	0.50205	0.1602	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57027	-0.7881	9	0.87932	D	0	.	13.1866	0.59684	0.0:0.0:0.0:1.0	.	139	Q5VU43-2	.	V	139	ENSP00000316434:E139V;ENSP00000433392:E139V	ENSP00000316434:E139V	E	-	2	0	PDE4DIP	143642650	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.040000	0.89188	1.996000	0.58369	0.379000	0.24179	GAG		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
RASSF2	9770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4776560	4776560	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:4776560C>T	ENST00000379400.3	-	5	383	c.188G>A	c.(187-189)cGc>cAc	p.R63H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R63H|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	63					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R63H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AATGGGCCGGCGCAGGCCCCA	0.597																																					Melanoma(158;1891 3343 50738)												1	Substitution - Missense(1)	kidney(1)											82.0	81.0	81.0					20																	4776560		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.188G>A	20.37:g.4776560C>T	ENSP00000368710:p.Arg63His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255664	0.80135	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.30448	1.53;1.53	5.13	5.13	0.70059	.	0.162098	0.53938	D	0.000041	T	0.33265	0.0857	M	0.79011	2.435	0.80722	D	1	P	0.42556	0.783	B	0.29353	0.101	T	0.45190	-0.9278	10	0.56958	D	0.05	.	17.3318	0.87267	0.0:1.0:0.0:0.0	.	63	P50749	RASF2_HUMAN	H	63	ENSP00000368710:R63H;ENSP00000368684:R63H	ENSP00000368684:R63H	R	-	2	0	RASSF2	4724560	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.353000	0.79414	2.665000	0.90641	0.563000	0.77884	CGC		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1		NM_014737	
RBM39	9584	hgsc.bcm.edu	37	20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:34320047T>C	ENST00000253363.6	-	4	135	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_ENST00000361162.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G			Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398																																																	0													122.0	113.0	116.0					20																	34320047		2203	4300	6503	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.112A>G	20.37:g.34320047T>C	ENSP00000253363:p.Ser38Gly		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	t	18.69	3.679031	0.68042	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	T;T;T;T;T;T	0.43688	1.01;1.01;0.94;3.4;1.72;1.01	5.9	5.9	0.94986	.	0.036917	0.85682	N	0.000000	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.29037	0.139;0.139;0.218;0.139;0.231	B;B;B;B;B	0.27715	0.037;0.037;0.082;0.037;0.037	T	0.15521	-1.0434	10	0.23891	T	0.37	.	16.336	0.83060	0.0:0.0:0.0:1.0	.	38;38;38;38;14	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	38	ENSP00000253363:S38G;ENSP00000354437:S38G;ENSP00000436747:S38G;ENSP00000363150:S38G;ENSP00000406801:S38G;ENSP00000393493:S38G	ENSP00000253363:S38G	S	-	1	0	RBM39	33783461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.252000	0.74401	0.529000	0.55759	AGC		0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2		NM_184237	
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:117609777C>G	ENST00000368508.3	-	43	7120	c.6922G>C	c.(6922-6924)Gaa>Caa	p.E2308Q	ROS1_ENST00000368507.3_Missense_Mutation_p.E2302Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2308					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E2308Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	2	Substitution - Missense(2)	kidney(2)											113.0	112.0	112.0					6																	117609777		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6922G>C	6.37:g.117609777C>G	ENSP00000357494:p.Glu2308Gln		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	9.343	1.063639	0.20067	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70869	-0.51;-0.52	4.5	2.67	0.31697	.	0.477423	0.17720	N	0.164296	T	0.18299	0.0439	N	0.08118	0	0.23640	N	0.997225	B	0.15141	0.012	B	0.10450	0.005	T	0.28776	-1.0033	10	0.08381	T	0.77	.	4.018	0.09652	0.0:0.563:0.2109:0.2261	.	2308	P08922	ROS1_HUMAN	Q	2308;2302	ENSP00000357494:E2308Q;ENSP00000357493:E2302Q	ENSP00000357493:E2302Q	E	-	1	0	ROS1	117716470	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.987000	0.29603	0.494000	0.27859	0.563000	0.77884	GAA		0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			
SARNP	84324	hgsc.bcm.edu;ucsc.edu	37	12	56194628	56194628	+	Intron	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr12:56194628T>A	ENST00000336133.3	-	3	238				SARNP_ENST00000444631.2_Intron|RP11-762I7.5_ENST00000546837.1_Intron|SARNP_ENST00000552080.1_Intron|RP11-762I7.5_ENST00000552719.1_5'Flank	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein						mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						CCTTACTCTATCCAACTCACC	0.403																																																	0													273.0	222.0	240.0					12																	56194628		2203	4300	6503	SO:0001627	intron_variant	84324			AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.183+9A>T	12.37:g.56194628T>A			A8K393|Q9P066	RNA	SNP	ENST00000336133.3	37	CCDS8892.1																																																																																				0.403	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2		NM_033082	
SEMA3G	56920	broad.mit.edu;ucsc.edu	37	3	52472210	52472210	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:52472210C>T	ENST00000231721.2	-	14	1514	c.1515G>A	c.(1513-1515)atG>atA	p.M505I		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	505	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.M505I(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGTATAGCATTTGCTGGG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											21.0	23.0	22.0					3																	52472210		2202	4299	6501	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1515G>A	3.37:g.52472210C>T	ENSP00000231721:p.Met505Ile		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869335	0.32977	.	.	ENSG00000010319	ENST00000231721	T	0.21031	2.03	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.520411	0.22147	N	0.063974	T	0.23766	0.0575	L	0.46157	1.445	0.24854	N	0.992383	B	0.18013	0.025	B	0.20184	0.028	T	0.10132	-1.0643	10	0.44086	T	0.13	.	18.3691	0.90401	0.0:1.0:0.0:0.0	.	505	Q9NS98	SEM3G_HUMAN	I	505	ENSP00000231721:M505I	ENSP00000231721:M505I	M	-	3	0	SEMA3G	52447250	0.053000	0.20554	0.999000	0.59377	0.316000	0.28119	0.446000	0.21694	2.574000	0.86865	0.655000	0.94253	ATG		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1		NM_020163	
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50556989	50556989	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chrX:50556989G>A	ENST00000289292.7	-	1	313	c.30C>T	c.(28-30)taC>taT	p.Y10Y	SHROOM4_ENST00000376020.2_Silent_p.Y10Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	10	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.Y10Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACAGGGACGTACTGGAAGG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	35.0	35.0					X																	50556989		2200	4299	6499	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.30C>T	X.37:g.50556989G>A			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.662	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717	
SLC15A3	51296	broad.mit.edu;ucsc.edu	37	11	60709588	60709588	+	Silent	SNP	A	A	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:60709588A>C	ENST00000227880.3	-	4	1259	c.1026T>G	c.(1024-1026)ctT>ctG	p.L342L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	342					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L342L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGTGGAGGTGAAGACCCTGCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											193.0	172.0	179.0					11																	60709588		2203	4299	6502	SO:0001819	synonymous_variant	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1026T>G	11.37:g.60709588A>C			Q9P2X9	Silent	SNP	ENST00000227880.3	37	CCDS7998.1																																																																																				0.577	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1		NM_016582	
SLC35D1	23169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67486082	67486082	+	Silent	SNP	A	A	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:67486082A>C	ENST00000235345.5	-	10	931	c.846T>G	c.(844-846)gcT>gcG	p.A282A	SLC35D1_ENST00000506472.2_Silent_p.A203A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	282					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.A282A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAGTTGTAAGAGCAGAATTAT	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	108.0	109.0					1																	67486082		2203	4300	6503	SO:0001819	synonymous_variant	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.846T>G	1.37:g.67486082A>C			A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	CCDS636.1																																																																																				0.333	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1		NM_015139	
SLC6A17	388662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110740166	110740166	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:110740166G>T	ENST00000331565.4	+	11	2245	c.1760G>T	c.(1759-1761)aGc>aTc	p.S587I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	587					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S587I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCACAGCCAGCATCATCCAG	0.602											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											43.0	40.0	41.0					1																	110740166		2202	4300	6502	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1760G>T	1.37:g.110740166G>T	ENSP00000330199:p.Ser587Ile	1429	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707890	0.68615	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75260	-0.92	5.03	5.03	0.67393	.	0.194497	0.52532	D	0.000067	D	0.85915	0.5808	M	0.87097	2.86	0.58432	D	0.999999	D	0.67145	0.996	D	0.68483	0.958	D	0.88479	0.3067	10	0.72032	D	0.01	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	587	Q9H1V8	S6A17_HUMAN	I	587	ENSP00000330199:S587I	ENSP00000330199:S587I	S	+	2	0	SLC6A17	110541689	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	5.726000	0.68515	2.326000	0.78906	0.557000	0.71058	AGC		0.602	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2		XM_371280	
TEAD2	8463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49852034	49852034	+	Missense_Mutation	SNP	G	G	A	rs369344041		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:49852034G>A	ENST00000311227.2	-	8	751	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	TEAD2_ENST00000539846.1_Missense_Mutation_p.R93W|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000601519.1_Missense_Mutation_p.R224W|TEAD2_ENST00000593945.1_Missense_Mutation_p.R225W|TEAD2_ENST00000377214.4_Missense_Mutation_p.R224W|TEAD2_ENST00000598810.1_Missense_Mutation_p.R225W	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	221	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R221W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCAGGCCCCGAGCCTGCCAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		10084	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	1,4401		0,1,2200	23.0	28.0	27.0		661	3.5	1.0	19		27	0,8590		0,0,4295	no	missense	TEAD2	NM_003598.1	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	221/448	49852034	1,12991	2201	4295	6496	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.661C>T	19.37:g.49852034G>A	ENSP00000310701:p.Arg221Trp		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544185	0.45280	2.27E-4	0.0	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.64085	0.08;0.09;-0.08	5.64	3.45	0.39498	.	0.000000	0.64402	D	0.000012	T	0.77772	0.4180	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.975;0.999;0.957	T	0.79303	-0.1859	10	0.87932	D	0	-31.7224	10.9754	0.47463	0.0:0.141:0.7125:0.1466	.	93;221;224	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	W	221;224;93	ENSP00000310701:R221W;ENSP00000366419:R224W;ENSP00000437928:R93W	ENSP00000310701:R221W	R	-	1	2	TEAD2	54543846	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	3.515000	0.53429	0.822000	0.34565	-0.274000	0.10170	CGG		0.587	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1		NM_003598	
TLR10	81793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38776455	38776455	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr4:38776455C>T	ENST00000308973.4	-	4	1362	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.D253N|TLR10_ENST00000361424.2_Missense_Mutation_p.D253N|TLR10_ENST00000508334.1_Missense_Mutation_p.D253N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	253					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.D253N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAGAGTAAATCAACTTTATTA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											65.0	64.0	64.0					4																	38776455		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.757G>A	4.37:g.38776455C>T	ENSP00000308925:p.Asp253Asn		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167516	0.38315	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.04	2.19	0.27852	.	0.147809	0.29660	N	0.011528	T	0.74160	0.3680	L	0.55834	1.745	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.62238	-0.6896	10	0.41790	T	0.15	.	4.317	0.10998	0.1541:0.5427:0.0:0.3032	.	253	Q9BXR5	TLR10_HUMAN	N	253	ENSP00000308925:D253N;ENSP00000421483:D253N;ENSP00000354459:D253N;ENSP00000424923:D253N	ENSP00000308925:D253N	D	-	1	0	TLR10	38452850	0.000000	0.05858	0.997000	0.53966	0.811000	0.45836	-0.497000	0.06428	1.109000	0.41680	0.591000	0.81541	GAT		0.348	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			
TNS1	7145	broad.mit.edu;ucsc.edu	37	2	218713396	218713396	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr2:218713396C>G	ENST00000171887.4	-	17	1921	c.1469G>C	c.(1468-1470)gGg>gCg	p.G490A	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.G490A|TNS1_ENST00000419504.1_Missense_Mutation_p.G490A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	490					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.G490A(1)|p.G615A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCTAACGCCCCACCATTGAC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											84.0	79.0	80.0					2																	218713396		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1469G>C	2.37:g.218713396C>G	ENSP00000171887:p.Gly490Ala		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938601	0.02340	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93247	-2.66;-2.66;-2.66;-3.19	4.84	3.96	0.45880	.	1.197720	0.05666	N	0.587797	D	0.86715	0.5999	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B;B	0.10296	0.003;0.003;0.002;0.0;0.0	B;B;B;B;B	0.10450	0.004;0.005;0.004;0.002;0.002	T	0.74047	-0.3790	10	0.16420	T	0.52	.	4.4619	0.11669	0.0:0.5908:0.1772:0.232	.	490;544;490;490;490	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	A	490;490;490;615	ENSP00000171887:G490A;ENSP00000408724:G490A;ENSP00000406016:G490A;ENSP00000405460:G615A	ENSP00000171887:G490A	G	-	2	0	TNS1	218421641	0.006000	0.16342	0.380000	0.26093	0.080000	0.17528	0.307000	0.19296	1.398000	0.46701	0.561000	0.74099	GGG		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648	
TOP1	7150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39744972	39744972	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:39744972G>A	ENST00000361337.2	+	17	2012	c.1762G>A	c.(1762-1764)Gta>Ata	p.V588I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	588					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.V588I(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GACAGCCAAGGTATTCCGTAC	0.478			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	1	Substitution - Missense(1)	kidney(1)											109.0	90.0	97.0					20																	39744972		2203	4300	6503	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1762G>A	20.37:g.39744972G>A	ENSP00000354522:p.Val588Ile		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957191	0.97145	.	.	ENSG00000198900	ENST00000361337	T	0.47528	0.84	6.17	6.17	0.99709	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84956	0.0874	10	0.66056	D	0.02	-14.5816	20.8794	0.99867	0.0:0.0:1.0:0.0	.	588	P11387	TOP1_HUMAN	I	588	ENSP00000354522:V588I	ENSP00000354522:V588I	V	+	1	0	TOP1	39178386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GTA		0.478	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11333752	11333752	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:11333752C>A	ENST00000376810.5	+	1	490	c.164C>A	c.(163-165)cCc>cAc	p.P55H	UBIAD1_ENST00000376804.2_Missense_Mutation_p.P55H	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	55					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.P55H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GCCCTGAGGCCCTGGAGCTTC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											76.0	68.0	70.0					1																	11333752		2203	4300	6503	SO:0001583	missense	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.164C>A	1.37:g.11333752C>A	ENSP00000366006:p.Pro55His		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072130	0.93950	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.97941	-4.62;-4.43	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99806	1.1038	10	0.87932	D	0	-3.2139	17.7165	0.88338	0.0:1.0:0.0:0.0	.	55	Q9Y5Z9	UBIA1_HUMAN	H	55	ENSP00000366006:P55H;ENSP00000366000:P55H	ENSP00000366000:P55H	P	+	2	0	UBIAD1	11256339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.214000	0.77958	2.484000	0.83849	0.453000	0.30009	CCC		0.657	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1		NM_013319	
UBL4A	8266	broad.mit.edu	37	X	153714611	153714611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chrX:153714611delG	ENST00000369660.4	-	2	195	c.110delC	c.(109-111)ccafs	p.P37fs	UBL4A_ENST00000369653.4_Frame_Shift_Del_p.P37fs|UBL4A_ENST00000477777.1_5'Flank	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCGCACTGGGACGTTCAG	0.706																																					Esophageal Squamous(74;88 1215 11149 34177 46777)												0													13.0	10.0	11.0					X																	153714611		2148	4204	6352	SO:0001589	frameshift_variant	8266			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.110delC	X.37:g.153714611delG	ENSP00000358674:p.Pro37fs		Q5HY80	Frame_Shift_Del	DEL	ENST00000369660.4	37	CCDS14754.1																																																																																				0.706	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2		NM_014235	
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85758222	85758222	+	Missense_Mutation	SNP	T	T	C	rs201745590		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr4:85758222T>C	ENST00000295888.4	-	7	843	c.436A>G	c.(436-438)Aca>Gca	p.T146A	WDFY3_ENST00000322366.6_Missense_Mutation_p.T146A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	146					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.T146A(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTGACATTGTTGTCATGCAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											69.0	64.0	66.0					4																	85758222		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.436A>G	4.37:g.85758222T>C	ENSP00000295888:p.Thr146Ala		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588745	0.28357	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.10960	2.82;2.82	5.76	5.76	0.90799	.	0.098076	0.64402	D	0.000002	T	0.02418	0.0074	N	0.00159	-1.955	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.14023	0.01;0.007	T	0.43653	-0.9378	10	0.05351	T	0.99	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	146;146	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	A	146	ENSP00000318466:T146A;ENSP00000295888:T146A	ENSP00000295888:T146A	T	-	1	0	WDFY3	85977246	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.884000	0.87274	2.190000	0.69967	0.374000	0.22700	ACA		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
CFAP44	55779	broad.mit.edu	37	3	113049451	113049451	+	Missense_Mutation	SNP	A	A	C	rs79365690|rs370566069		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:113049451A>C	ENST00000393845.2	-	26	3746	c.3680T>G	c.(3679-3681)gTt>gGt	p.V1227G	WDR52_ENST00000308346.6_5'Flank	NM_001164496.1	NP_001157968.1												p.V375G(5)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCCTCAACAACAGCCACTTT	0.408																																																	5	Substitution - Missense(5)	kidney(5)																																								SO:0001583	missense	55779																														ENST00000393845.2:c.3680T>G	3.37:g.113049451A>C	ENSP00000377428:p.Val1227Gly			Missense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.469473|2.469473	0.43839|0.43839	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|T	.|0.11821	.|2.74	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.643254	.|0.11770	.|U	.|0.531195	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.56563	.|0.801	T|T	0.01169|0.01169	-1.1430|-1.1430	5|10	.|0.87932	.|D	.|0	-19.8203|-19.8203	8.8767|8.8767	0.35350|0.35350	0.854:0.0:0.146:0.0|0.854:0.0:0.146:0.0	.|.	.|1227	.|Q96MT7-2	.|.	W|G	363|1227	.|ENSP00000377428:V1227G	.|ENSP00000377428:V1227G	C|V	-|-	3|2	2|0	WDR52|WDR52	114532141|114532141	0.947000|0.947000	0.32204|0.32204	0.873000|0.873000	0.34254|0.34254	0.340000|0.340000	0.28889|0.28889	3.859000|3.859000	0.55987|0.55987	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGT|GTT		0.408	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
ZC3H7B	23264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41742095	41742095	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr22:41742095G>A	ENST00000352645.4	+	14	1805	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	ZC3H7B_ENST00000351589.4_Silent_p.R516R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	532					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R516R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCGAGGAGCGGAAGGGCACCC	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											189.0	151.0	164.0					22																	41742095		2203	4300	6503	SO:0001819	synonymous_variant	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1548G>A	22.37:g.41742095G>A			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	CCDS14013.1																																																																																				0.597	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1		NM_017590	
