#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RPL3L	6123	genome.wustl.edu	37	16	2002994	2002994	+	Silent	SNP	C	C	T	rs377420235		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr16:2002994C>T	ENST00000268661.7	-	3	340	c.246G>A	c.(244-246)ccG>ccA	p.P82P	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	82					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCACTAGGGGCGGCGTTTCTA	0.602																																																0			16						C		0,4398		0,0,2199	62.0	56.0	58.0		246	-7.0	0.1	16		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL3L	NM_005061.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		82/408	2002994	1,12997	2199	4300	6499	1942995	SO:0001819	synonymous_variant	6123			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.246G>A	16.37:g.2002994C>T			1942995		Silent	SNP	superfamily_Translat_factor,HMMPfam_Ribosomal_L3,PatternScan_RIBOSOMAL_L3	p.P82	ENST00000268661.7	37	c.246	CCDS10450.1	16																																																																																			-	superfamily_Translat_factor,HMMPfam_Ribosomal_L3		0.602	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	protein_coding	OTTHUMT00000250582.2	C	NM_005061		1942995	-1	no_errors	NM_005061	genbank	human	reviewed	54_36p	silent	SNP	0.497	T
ARSF	416	genome.wustl.edu	37	X	3030320	3030320	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chrX:3030320C>A	ENST00000381127.1	+	11	1717	c.1496C>A	c.(1495-1497)aCc>aAc	p.T499N	ARSF_ENST00000359361.2_Missense_Mutation_p.T499N|ARSF_ENST00000537104.1_Missense_Mutation_p.T499N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	499					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACAGGTTACCTACCACAAC	0.532																																																0			X											120.0	110.0	114.0					X																	3030320		2203	4300	6503	3040320	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1496C>A	X.37:g.3030320C>A	ENSP00000370519:p.Thr499Asn		3040320	Q8TCC5	Missense_Mutation	SNP	superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2	p.T499N	ENST00000381127.1	37	c.1496	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	C	9.911	1.209646	0.22289	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.90620	-2.7;-2.7;-2.7	3.0	2.08	0.27032	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.185767	0.45606	U	0.000351	D	0.85353	0.5677	L	0.45228	1.405	0.36460	D	0.866648	B	0.21905	0.062	B	0.27076	0.076	T	0.82669	-0.0343	10	0.31617	T	0.26	.	10.2605	0.43423	0.0:0.8839:0.0:0.1161	.	499	P54793	ARSF_HUMAN	N	499	ENSP00000370519:T499N;ENSP00000445594:T499N;ENSP00000352319:T499N	ENSP00000352319:T499N	T	+	2	0	ARSF	3040320	0.107000	0.21998	0.003000	0.11579	0.002000	0.02628	1.576000	0.36504	1.281000	0.44480	0.411000	0.27672	ACC	-	superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase		0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	protein_coding	OTTHUMT00000055652.1	C			3040320	+1	no_errors	NM_004042	genbank	human	reviewed	54_36p	missense	SNP	0.890	A
ANO2	57101	genome.wustl.edu	37	12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A	rs368566641		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr12:5708776G>A	ENST00000356134.5	-	22	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	708					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	12						G	stop/ARG	0,4014		0,0,2007	104.0	99.0	101.0		2107	5.9	1.0	12		101	1,8357		0,1,4178	no	stop-gained	ANO2	NM_020373.2		0,1,6185	AA,AG,GG		0.012,0.0,0.0081		703/999	5708776	1,12371	2007	4179	6186	5579037	SO:0001587	stop_gained	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2110C>T	12.37:g.5708776G>A	ENSP00000348453:p.Arg704*		5579037	C4N787|Q9H847	Nonsense_Mutation	SNP	HMMPfam_DUF590	p.R704*	ENST00000356134.5	37	c.2110		12	.	.	.	.	.	.	.	.	.	.	G	40	8.262735	0.98732	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	5.9	5.9	0.94986	.	0.067886	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6796	0.56914	0.0:0.0:0.8353:0.1647	.	.	.	.	X	703;704;704;708	.	ENSP00000314048:R703X	R	-	1	2	ANO2	5579037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.158000	0.42329	2.793000	0.96121	0.563000	0.77884	CGA	-	HMMPfam_DUF590		0.428	ANO2-001	KNOWN	basic	protein_coding	ANO2	protein_coding	OTTHUMT00000399019.4	G	NM_020373		5579037	-1	no_errors	NM_020373	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.I195T	ENST00000269305.4	37	c.584	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518990	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10323456	10323456	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr17:10323456T>G	ENST00000403437.2	-	3	183	c.89A>C	c.(88-90)cAa>cCa	p.Q30P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	30					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCTTGTTTTGGGCCTCAAT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											203.0	193.0	196.0					17																	10323456		2203	4300	6503	10264181	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.89A>C	17.37:g.10323456T>G	ENSP00000384330:p.Gln30Pro		10264181	Q14910	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.Q30P	ENST00000403437.2	37	c.89	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900724	0.72754	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86097	-2.07	4.59	4.59	0.56863	.	0.000000	0.39985	U	0.001207	D	0.89483	0.6728	L	0.56769	1.78	0.54753	D	0.999985	P	0.49253	0.921	P	0.61070	0.883	D	0.90681	0.4605	10	0.87932	D	0	.	14.1313	0.65255	0.0:0.0:0.0:1.0	.	30	P13535	MYH8_HUMAN	P	30	ENSP00000384330:Q30P	ENSP00000252173:Q30P	Q	-	2	0	MYH8	10264181	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.870000	0.63035	1.939000	0.56221	0.383000	0.25322	CAA	-	NULL		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	T	NM_002472		10264181	-1	no_errors	NM_002472	genbank	human	validated	54_36p	missense	SNP	1.000	G
ILF3	3609	genome.wustl.edu	37	19	10798362	10798362	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:10798362C>A	ENST00000590261.1	+	17	2400	c.2400C>A	c.(2398-2400)gaC>gaA	p.D800E	ILF3_ENST00000588657.1_Missense_Mutation_p.D804E|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.D800E|ILF3_ENST00000449870.1_Missense_Mutation_p.D804E			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	800	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGGATCCGACTACAACTACG	0.617																																																0			19											33.0	39.0	37.0					19																	10798362		2203	4300	6503	10659362	SO:0001583	missense	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2400C>A	19.37:g.10798362C>A	ENSP00000468156:p.Asp800Glu		10659362	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	HMMSmart_SM00572,HMMPfam_DZF,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358	p.D800E	ENST00000590261.1	37	c.2400	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495026	0.44352	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.15256	2.44;2.44	5.15	4.1	0.47936	.	0.354533	0.29133	N	0.013053	T	0.10508	0.0257	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.09552	-1.0669	10	0.40728	T	0.16	.	12.9378	0.58325	0.0:0.8366:0.1634:0.0	.	804;800	G5E9M5;Q12906	.;ILF3_HUMAN	E	804;800	ENSP00000404121:D804E;ENSP00000315205:D800E	ENSP00000315205:D800E	D	+	3	2	ILF3	10659362	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.837000	0.39201	1.379000	0.46325	0.655000	0.94253	GAC	-	NULL		0.617	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	protein_coding	OTTHUMT00000452074.1	C			10659362	+1	no_errors	NM_012218	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
DOCK6	57572	genome.wustl.edu	37	19	11354520	11354520	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:11354520G>A	ENST00000294618.7	-	10	1073	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	354					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGGCTCACAGCACTCACTGA	0.572											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											88.0	88.0	88.0					19																	11354520		2132	4235	6367	11215520	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1062C>T	19.37:g.11354520G>A		671	11215520	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	HMMPfam_Ded_cyto	p.C354	ENST00000294618.7	37	c.1062	CCDS45975.1	19																																																																																			-	NULL		0.572	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11215520	-1	no_errors	NM_020812	genbank	human	validated	54_36p	silent	SNP	1.000	A
DKK3	27122	genome.wustl.edu	37	11	12023930	12023930	+	Silent	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:12023930A>G	ENST00000396505.2	-	3	506	c.268T>C	c.(268-270)Tta>Cta	p.L90L	DKK3_ENST00000326932.4_Silent_p.L90L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Silent_p.L90L|DKK3_ENST00000525493.1_Silent_p.L90L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	90					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTGGGAGGTAAGTTTGCCAGG	0.408																																																0			11											293.0	246.0	262.0					11																	12023930		2201	4294	6495	11980506	SO:0001819	synonymous_variant	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.268T>C	11.37:g.12023930A>G			11980506	A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	HMMPfam_Dickkopf_N	p.L90	ENST00000396505.2	37	c.268	CCDS7808.1	11																																																																																			-	NULL		0.408	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	protein_coding	OTTHUMT00000385863.1	A	NM_013253		11980506	-1	no_errors	NM_001018057	genbank	human	reviewed	54_36p	silent	SNP	0.017	G
RPS8P10	388076	genome.wustl.edu	37	15	22440617	22440617	+	IGR	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr15:22440617G>A								RP11-2F9.4 (4440 upstream) : IGHV1OR15-1 (7764 downstream)																							ATCGATGATCGTTGTTTTATG	0.483																																																0			15																																								19941981	SO:0001628	intergenic_variant	388076																															15.37:g.22440617G>A			19941981		Missense_Mutation	SNP	HMMPfam_Ribosomal_S8e	p.T77M		37	c.230		15																																																																																			-	HMMPfam_Ribosomal_S8e	0	0.483					LOC388076			G			19941981	-1	pseudogene	XM_931016	genbank	human	model	54_36p	missense	SNP	1.000	A
HNRNPR	10236	genome.wustl.edu	37	1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:23648137C>T	ENST00000374612.1	-	7	818	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378																																																0			1											112.0	117.0	115.0					1																	23648137		2203	4300	6503	23520724	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.695G>A	1.37:g.23648137C>T	ENSP00000363741:p.Arg232His		23520724	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.R232H	ENST00000374612.1	37	c.695	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC	-	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1		0.378	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23520724	-1	no_errors	NM_001102398	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25261149	25261149	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr8:25261149C>T	ENST00000276440.7	+	48	5046	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1668					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCCACTCTGCGGAGGTTGTC	0.522																																					Pancreas(145;34 1887 3271 10937 30165)											0			8											248.0	206.0	220.0					8																	25261149		2203	4300	6503	25317066	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5002C>T	8.37:g.25261149C>T	ENSP00000276440:p.Arg1668Trp		25317066	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.R1668W	ENST00000276440.7	37	c.5002	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853124	0.71719	.	.	ENSG00000147459	ENST00000276440	T	0.04917	3.53	5.81	4.91	0.64330	.	0.063063	0.64402	D	0.000005	T	0.20577	0.0495	L	0.59436	1.845	0.50632	D	0.999888	D	0.89917	1.0	D	0.79784	0.993	T	0.00028	-1.2297	10	0.72032	D	0.01	.	13.8644	0.63578	0.3133:0.6867:0.0:0.0	.	1668	Q9H7D0	DOCK5_HUMAN	W	1668	ENSP00000276440:R1668W	ENSP00000276440:R1668W	R	+	1	2	DOCK5	25317066	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	1.212000	0.32394	2.746000	0.94184	0.655000	0.94253	CGG	-	NULL		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	protein_coding	OTTHUMT00000254955.2	C	NM_024940		25317066	+1	no_errors	NM_024940	genbank	human	validated	54_36p	missense	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32205173	32205173	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:32205173C>A	ENST00000373658.3	-	15	2572	c.2231G>T	c.(2230-2232)gGc>gTc	p.G744V	BAI2_ENST00000257070.4_Missense_Mutation_p.G744V|BAI2_ENST00000440175.2_Missense_Mutation_p.G386V|BAI2_ENST00000398556.3_Missense_Mutation_p.G692V|BAI2_ENST00000398547.1_Missense_Mutation_p.G677V|BAI2_ENST00000527361.1_Missense_Mutation_p.G744V|BAI2_ENST00000373655.2_Missense_Mutation_p.G744V|BAI2_ENST00000398538.1_Missense_Mutation_p.G732V|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398542.1_Missense_Mutation_p.G677V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	744					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCCCGGCGGCCCCGCATGGG	0.637																																																0			1											32.0	35.0	34.0					1																	32205173		2195	4283	6478	31977760	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2231G>T	1.37:g.32205173C>A	ENSP00000362762:p.Gly744Val		31977760	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.G744V	ENST00000373658.3	37	c.2231	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920683	0.92249	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.45668	1.62;1.81;0.91;0.91;1.99;0.89;0.89;1.64;0.94;1.62	4.8	4.8	0.61643	Domain of unknown function DUF3497 (1);	0.000000	0.43747	D	0.000523	T	0.63861	0.2547	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.85130	0.988;0.995;0.997;0.997;0.988;0.997	T	0.67968	-0.5533	10	0.87932	D	0	.	17.0918	0.86624	0.0:1.0:0.0:0.0	.	744;732;386;677;744;744	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	V	692;677;744;744;677;744;744;386;732;682	ENSP00000381564:G692V;ENSP00000381555:G677V;ENSP00000362762:G744V;ENSP00000362759:G744V;ENSP00000381550:G677V;ENSP00000257070:G744V;ENSP00000435397:G744V;ENSP00000391071:G386V;ENSP00000381548:G732V;ENSP00000410921:G682V	ENSP00000257070:G744V	G	-	2	0	BAI2	31977760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	2.405000	0.81733	0.456000	0.33151	GGC	-	NULL		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	protein_coding	OTTHUMT00000381838.1	C	NM_001703		31977760	-1	no_errors	NM_001703	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PSMB9	5698	genome.wustl.edu	37	6	32827190	32827190	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr6:32827190C>G	ENST00000374859.2	+	6	610	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	PSMB9_ENST00000395330.1_Missense_Mutation_p.L158V	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	181					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	AGCTATTGCTCTGGCCATGAG	0.527																																																0			6											170.0	181.0	177.0					6																	32827190		2203	4300	6503	32935168	SO:0001583	missense	5698				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.541C>G	6.37:g.32827190C>G	ENSP00000363993:p.Leu181Val		32935168	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B	p.L181V	ENST00000374859.2	37	c.541	CCDS4759.1	6	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262710	0.59431	.	.	ENSG00000240065	ENST00000395330;ENST00000374859	T;T	0.21361	2.01;2.01	5.23	4.36	0.52297	.	0.000000	0.64402	D	0.000001	T	0.42810	0.1219	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.53215	-0.8470	10	0.56958	D	0.05	-19.0193	12.1024	0.53792	0.0:0.9164:0.0:0.0836	.	181	P28065	PSB9_HUMAN	V	158;181	ENSP00000378739:L158V;ENSP00000363993:L181V	ENSP00000363993:L181V	L	+	1	2	PSMB9	32935168	0.988000	0.35896	0.999000	0.59377	0.996000	0.88848	1.401000	0.34589	1.570000	0.49709	0.643000	0.83706	CTG	-	superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome		0.527	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	protein_coding	OTTHUMT00000076624.5	C	NM_002800		32935168	+1	no_errors	NM_002800	genbank	human	reviewed	54_36p	missense	SNP	0.999	G
LRRFIP2	9209	genome.wustl.edu	37	3	37190397	37190397	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:37190397G>A	ENST00000336686.4	-	2	158	c.78C>T	c.(76-78)aaC>aaT	p.N26N	LRRFIP2_ENST00000396428.2_Silent_p.N26N|LRRFIP2_ENST00000354379.4_Silent_p.N26N|LRRFIP2_ENST00000421276.2_Silent_p.N26N|LRRFIP2_ENST00000421307.1_Silent_p.N26N|LRRFIP2_ENST00000440230.1_Silent_p.N26N			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	26	DVL3-binding.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCTGGCAATGTTACTCAAAG	0.398																																																0			3											160.0	149.0	153.0					3																	37190397		2203	4300	6503	37165401	SO:0001819	synonymous_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.78C>T	3.37:g.37190397G>A			37165401	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	HMMPfam_DUF2051	p.N26	ENST00000336686.4	37	c.78	CCDS2664.1	3																																																																																			-	NULL		0.398	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	protein_coding	OTTHUMT00000253335.3	G	NM_006309		37165401	-1	no_errors	NM_006309	genbank	human	validated	54_36p	silent	SNP	1.000	A
VWA8	23078	genome.wustl.edu	37	13	42407562	42407562	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr13:42407562C>A	ENST00000379310.3	-	13	1599	c.1531G>T	c.(1531-1533)Gtc>Ttc	p.V511F	VWA8_ENST00000281496.6_Missense_Mutation_p.V511F	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	511						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCCAGCAGGACCAGCTTGCCT	0.552																																																0			13											80.0	66.0	71.0					13																	42407562		2203	4300	6503	41305562	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1531G>T	13.37:g.42407562C>A	ENSP00000368612:p.Val511Phe		41305562	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327	p.V511F	ENST00000379310.3	37	c.1531	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165164	0.78339	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.41758	0.99;0.99	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.136445	0.49916	D	0.000124	T	0.55130	0.1901	M	0.67569	2.06	0.54753	D	0.999989	P	0.37276	0.589	P	0.45794	0.493	T	0.57236	-0.7846	10	0.66056	D	0.02	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	511	A3KMH1	K0564_HUMAN	F	415;511;511	ENSP00000368612:V511F;ENSP00000281496:V511F	ENSP00000251030:V415F	V	-	1	0	KIAA0564	41305562	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	4.868000	0.63021	2.715000	0.92844	0.655000	0.94253	GTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5		0.552	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0564	protein_coding	OTTHUMT00000354828.2	C	NM_015058		41305562	-1	no_errors	NM_015058	genbank	human	validated	54_36p	missense	SNP	1.000	A
PLEKHH2	130271	genome.wustl.edu	37	2	43969967	43969967	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:43969967G>A	ENST00000282406.4	+	22	3419	c.3309G>A	c.(3307-3309)agG>agA	p.R1103R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1103	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACCCTCAAGGATGGAAATTC	0.408																																																0			2											175.0	154.0	161.0					2																	43969967		2203	4300	6503	43823471	SO:0001819	synonymous_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3309G>A	2.37:g.43969967G>A			43823471	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M	p.R1103	ENST00000282406.4	37	c.3309	CCDS1812.1	2																																																																																			-	HMMSmart_SM00139,HMMPfam_MyTH4		0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	protein_coding	OTTHUMT00000250537.1	G	NM_172069		43823471	+1	no_errors	NM_172069	genbank	human	validated	54_36p	silent	SNP	0.644	A
RINL	126432	genome.wustl.edu	37	19	39362475	39362475	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:39362475C>T	ENST00000591812.1	-	5	435	c.349G>A	c.(349-351)Gac>Aac	p.D117N	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.D3N|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.D3N			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	117					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGGGGCAGGTCTGGCATGCAG	0.567																																																0			19											78.0	78.0	78.0					19																	39362475		2203	4300	6503	44054315	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.349G>A	19.37:g.39362475C>T	ENSP00000467107:p.Asp117Asn		44054315	B4DPG5	Missense_Mutation	SNP	superfamily_SSF109993,HMMPfam_VPS9	p.D3N	ENST00000591812.1	37	c.7	CCDS59386.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261472	0.80358	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.53857	0.6	4.91	3.88	0.44766	.	0.201110	0.41500	D	0.000868	T	0.50137	0.1598	L	0.29908	0.895	0.25367	N	0.988733	D;D	0.60160	0.987;0.987	P;P	0.54544	0.755;0.755	T	0.41734	-0.9492	10	0.87932	D	0	-22.8084	8.5929	0.33699	0.0:0.8964:0.0:0.1036	.	117;3	B4DPG5;Q6ZS11	.;RINL_HUMAN	N	3	ENSP00000340369:D3N	ENSP00000340369:D3N	D	-	1	0	RINL	44054315	0.947000	0.32204	0.870000	0.34147	0.955000	0.61496	3.273000	0.51623	1.294000	0.44707	0.491000	0.48974	GAC	-	NULL		0.567	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RINL	protein_coding	OTTHUMT00000460433.1	C	NM_198445		44054315	-1	no_errors	NM_198445	genbank	human	provisional	54_36p	missense	SNP	0.707	T
ZNF488	118738	genome.wustl.edu	37	10	48370999	48370999	+	Missense_Mutation	SNP	G	G	A	rs536291384		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr10:48370999G>A	ENST00000395702.2	+	2	694	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.R49Q			Q96MN9	ZN488_HUMAN	zinc finger protein 488	156					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCGGAGCACGAAGTGAGCAA	0.597													N|||	1	0.000199681	0.0	0.0	5008	,	,		17398	0.001		0.0	False		,,,				2504	0.0															0			10											59.0	59.0	59.0					10																	48370999		2203	4300	6503	47991005	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.467G>A	10.37:g.48370999G>A	ENSP00000379054:p.Arg156Gln		47991005	Q05CE0	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.R156Q	ENST00000395702.2	37	c.467	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139759	0.37728	.	.	ENSG00000165388	ENST00000395702	T	0.23754	1.89	5.34	-3.4	0.04853	.	0.675627	0.13449	N	0.387091	T	0.11793	0.0287	L	0.55481	1.735	0.09310	N	1	P	0.43938	0.822	B	0.23419	0.046	T	0.18587	-1.0332	10	0.35671	T	0.21	.	1.3918	0.02252	0.2392:0.1838:0.3968:0.1802	.	156	Q96MN9	ZN488_HUMAN	Q	156	ENSP00000379054:R156Q	ENSP00000379054:R156Q	R	+	2	0	ZNF488	47991005	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.192000	0.17096	-0.402000	0.07633	0.556000	0.70494	CGA	-	NULL		0.597	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	protein_coding	OTTHUMT00000314632.1	G	NM_153034		47991005	+1	no_errors	NM_153034	genbank	human	provisional	54_36p	missense	SNP	0.000	A
TROAP	10024	genome.wustl.edu	37	12	49725140	49725140	+	Missense_Mutation	SNP	C	C	T	rs530742403		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr12:49725140C>T	ENST00000257909.3	+	14	2318	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	TROAP_ENST00000551245.1_Missense_Mutation_p.R838W|TROAP_ENST00000547923.1_Missense_Mutation_p.R427W	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	748					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGGCCCCACCCGGGTCTGCAC	0.602											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.001															0			12											53.0	50.0	51.0					12																	49725140		2203	4300	6503	48011407	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2242C>T	12.37:g.49725140C>T	ENSP00000257909:p.Arg748Trp	964	48011407	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.R748W	ENST00000257909.3	37	c.2242	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839888	0.71488	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	-3.71	0.04424	.	0.000000	0.53938	D	0.000058	T	0.58221	0.2107	L	0.47190	1.495	0.21184	N	0.999761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62553	-0.6830	9	0.87932	D	0	-20.8276	17.5005	0.87730	0.7104:0.2896:0.0:0.0	.	838;427;748	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	W	838;748;427	.	ENSP00000257909:R748W	R	+	1	2	TROAP	48011407	0.093000	0.21703	0.013000	0.15412	0.967000	0.64934	0.189000	0.17037	-0.439000	0.07222	0.561000	0.74099	CGG	-	NULL		0.602	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	protein_coding	OTTHUMT00000404300.1	C	NM_005480		48011407	+1	no_errors	NM_005480	genbank	human	validated	54_36p	missense	SNP	0.001	T
DMXL2	23312	genome.wustl.edu	37	15	51742416	51742416	+	Silent	SNP	C	C	T	rs147864837	byFrequency	TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr15:51742416C>T	ENST00000251076.5	-	42	9098	c.8811G>A	c.(8809-8811)acG>acA	p.T2937T	DMXL2_ENST00000543779.2_Silent_p.T2938T|DMXL2_ENST00000449909.3_Silent_p.T2301T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2937						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGGCCTGGAACGTGTGAATGA	0.488																																																0			15											141.0	123.0	129.0					15																	51742416		2196	4293	6489	49529708	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8811G>A	15.37:g.51742416C>T			49529708	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.T2937	ENST00000251076.5	37	c.8811	CCDS10141.1	15																																																																																			-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.488	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	C	NM_015263		49529708	-1	no_errors	NM_015263	genbank	human	validated	54_36p	silent	SNP	0.900	T
ZNF613	79898	genome.wustl.edu	37	19	52448711	52448711	+	Silent	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:52448711A>G	ENST00000293471.6	+	6	2254	c.1575A>G	c.(1573-1575)tcA>tcG	p.S525S	ZNF613_ENST00000391794.4_Silent_p.S489S|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCCACTTGTCATGCCTTGTTT	0.423																																																0			19											112.0	85.0	95.0					19																	52448711		2203	4300	6503	57140523	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1575A>G	19.37:g.52448711A>G			57140523	Q96SS9	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.S525	ENST00000293471.6	37	c.1575	CCDS33089.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	protein_coding	OTTHUMT00000461104.2	A	NM_024840		57140523	+1	no_errors	NM_001031721	genbank	human	provisional	54_36p	silent	SNP	0.000	G
CHD7	55636	genome.wustl.edu	37	8	61654396	61654396	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr8:61654396G>A	ENST00000423902.2	+	2	884	c.405G>A	c.(403-405)ggG>ggA	p.G135G	CHD7_ENST00000524602.1_Silent_p.G135G|CHD7_ENST00000525508.1_Silent_p.G135G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	135					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGGCATGGGCAATCCTTTG	0.622																																																0			8											40.0	49.0	46.0					8																	61654396		2150	4263	6413	61816950	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.405G>A	8.37:g.61654396G>A			61816950	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592	p.G135	ENST00000423902.2	37	c.405	CCDS47865.1	8																																																																																			-	NULL		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61816950	+1	no_errors	NM_017780	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DPP3	10072	genome.wustl.edu	37	11	66258843	66258843	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:66258843G>A	ENST00000360510.2	+	7	852	c.787G>A	c.(787-789)Gag>Aag	p.E263K	DPP3_ENST00000531863.1_Missense_Mutation_p.E283K|DPP3_ENST00000530165.1_Missense_Mutation_p.E233K|DPP3_ENST00000532677.1_Missense_Mutation_p.E282K|DPP3_ENST00000541961.1_Missense_Mutation_p.E263K|DPP3_ENST00000453114.1_Missense_Mutation_p.E263K			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	263					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGAGCAGCTGGAGAAAGCCAA	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											36.0	42.0	40.0					11																	66258843		2199	4295	6494	66015419	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.787G>A	11.37:g.66258843G>A	ENSP00000353701:p.Glu263Lys	1090	66015419	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	HMMPfam_Peptidase_M49	p.E263K	ENST00000360510.2	37	c.787	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065403	0.36470	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000533725;ENST00000543807	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.2	4.28	0.50868	.	0.205070	0.49916	N	0.000132	T	0.11623	0.0283	N	0.13003	0.285	0.43846	D	0.996435	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.004	T	0.09422	-1.0675	10	0.10902	T	0.67	.	12.1463	0.54026	0.0851:0.0:0.9149:0.0	.	282;263	G3V1D3;Q9NY33	.;DPP3_HUMAN	K	283;282;263;263;263;233;161;161	ENSP00000432782:E283K;ENSP00000435284:E282K;ENSP00000353701:E263K;ENSP00000389943:E263K;ENSP00000440502:E263K;ENSP00000436941:E233K;ENSP00000434518:E161K	ENSP00000353701:E263K	E	+	1	0	DPP3	66015419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.168000	0.42424	1.316000	0.45131	0.650000	0.86243	GAG	-	HMMPfam_Peptidase_M49		0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	G			66015419	+1	no_errors	NM_005700	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
UBAC2	337867	genome.wustl.edu	37	13	100020095	100020095	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr13:100020095G>A	ENST00000403766.3	+	8	997	c.862G>A	c.(862-864)Gta>Ata	p.V288I	UBAC2_ENST00000376440.2_Missense_Mutation_p.V253I|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	288					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V253I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGACAAAACGTAAACTATCA	0.443																																																1	Substitution - Missense(1)	large_intestine(1)	13											106.0	99.0	101.0					13																	100020095		2203	4300	6503	98818096	SO:0001583	missense	337867			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.862G>A	13.37:g.100020095G>A	ENSP00000383911:p.Val288Ile		98818096	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA	p.V253I	ENST00000403766.3	37	c.757	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	G	0.749	-0.773579	0.02951	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	.	.	.	5.43	-4.56	0.03431	UBA-like (1);	0.991212	0.08211	N	0.980669	T	0.17619	0.0423	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.18013	0.0;0.025;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.32134	-0.9918	8	.	.	.	-1.6505	12.3455	0.55118	0.4107:0.0:0.5893:0.0	.	218;253;288;288	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	I	288;154;253	.	.	V	+	1	0	UBAC2	98818096	0.017000	0.18338	0.011000	0.14972	0.045000	0.14185	0.016000	0.13377	-0.795000	0.04462	-2.227000	0.00293	GTA	-	NULL		0.443	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	protein_coding	OTTHUMT00000045588.1	G	NM_177967		98818096	+1	no_errors	NM_177967	genbank	human	validated	54_36p	missense	SNP	0.918	A
EPHA6	285220	genome.wustl.edu	37	3	97439134	97439134	+	Silent	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:97439134C>A	ENST00000389672.5	+	15	2852	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTGGACAGCCCCAGAAGCCA	0.428																																																0			3											72.0	76.0	75.0					3																	97439134		1999	4227	6226	98921824	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2814C>A	3.37:g.97439134C>A			98921824	D6RAL5	Silent	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,superfamily_Growth factor receptor domain,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.A938	ENST00000389672.5	37	c.2814	CCDS46876.1	3																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	protein_coding	OTTHUMT00000353845.3	C	NM_001080448		98921824	+1	no_errors	NM_001080448	genbank	human	provisional	54_36p	silent	SNP	0.999	A
C7orf43	55262	genome.wustl.edu	37	7	99754755	99754755	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:99754755G>A	ENST00000316937.3	-	5	992	c.807C>T	c.(805-807)gtC>gtT	p.V269V	C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Silent_p.V37V|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	269										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCGGGCATGACAGGTAGAT	0.582																																																0			7											139.0	131.0	134.0					7																	99754755		2203	4300	6503	99592691	SO:0001819	synonymous_variant	55262				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.807C>T	7.37:g.99754755G>A			99592691	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	PatternScan_ODR_DC_2_2	p.V269	ENST00000316937.3	37	c.807	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092447	0.20471	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.73361	0.3577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71902	-0.4452	4	.	.	.	-18.1106	16.8401	0.85966	0.0:0.0:1.0:0.0	.	.	.	.	Y	175	.	.	H	-	1	0	C7orf43	99592691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.985000	0.40668	2.584000	0.87258	0.462000	0.41574	CAT	-	NULL		0.582	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf43	protein_coding	OTTHUMT00000337395.2	G	NM_018275		99592691	-1	no_errors	NM_018275	genbank	human	predicted	54_36p	silent	SNP	1.000	A
MYL10	93408	genome.wustl.edu	37	7	101259543	101259543	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:101259543T>C	ENST00000223167.4	-	6	667	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	164	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCGAACACTTTGAAGGCGTGG	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)											0			7											115.0	92.0	100.0					7																	101259543		2203	4300	6503	101046263	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.490A>G	7.37:g.101259543T>C	ENSP00000223167:p.Lys164Glu		101046263		Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.K164E	ENST00000223167.4	37	c.490	CCDS34713.1	7	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524649	0.85600	.	.	ENSG00000106436	ENST00000223167	T	0.72394	-0.65	4.78	4.78	0.61160	EF-hand-like domain (1);	0.234063	0.33572	N	0.004766	T	0.79851	0.4517	L	0.57536	1.79	0.54753	D	0.999987	D	0.56035	0.974	D	0.68765	0.96	T	0.80942	-0.1157	10	0.56958	D	0.05	.	12.3299	0.55033	0.0:0.0:0.0:1.0	.	164	Q9BUA6	MYL10_HUMAN	E	164	ENSP00000223167:K164E	ENSP00000223167:K164E	K	-	1	0	MYL10	101046263	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	7.219000	0.78000	1.804000	0.52760	0.524000	0.50904	AAA	-	superfamily_SSF47473,HMMSmart_EFh		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	protein_coding	OTTHUMT00000347575.1	T	NM_138403		101046263	-1	no_errors	NM_138403	genbank	human	validated	54_36p	missense	SNP	1.000	C
GPR128	84873	genome.wustl.edu	37	3	100413609	100413609	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:100413609T>C	ENST00000273352.3	+	16	2426	c.2158T>C	c.(2158-2160)Tac>Cac	p.Y720H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y425H|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	720					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTTTATCCTGTACACTGTTAG	0.408																																					Pancreas(87;185 1975 7223 18722)											0			3											71.0	74.0	73.0					3																	100413609		2203	4300	6503	101896299	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2158T>C	3.37:g.100413609T>C	ENSP00000273352:p.Tyr720His		101896299	Q14D94|Q86SQ2	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2	p.Y720H	ENST00000273352.3	37	c.2158	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.406889	0.01155	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.61859	0.07;0.07	5.52	0.495	0.16890	GPCR, family 2-like (1);	0.105638	0.42682	N	0.000673	T	0.45637	0.1352	L	0.56769	1.78	0.19945	N	0.999944	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.34750	-0.9816	10	0.12103	T	0.63	.	9.1893	0.37189	0.0:0.3168:0.0:0.6832	.	425;720	E9PHI0;Q96K78	.;GP128_HUMAN	H	720;425	ENSP00000273352:Y720H;ENSP00000419788:Y425H	ENSP00000273352:Y720H	Y	+	1	0	GPR128	101896299	0.124000	0.22315	0.088000	0.20740	0.056000	0.15407	0.099000	0.15210	-0.163000	0.10946	-1.162000	0.01777	TAC	-	HMMPfam_7tm_2		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	protein_coding	OTTHUMT00000353236.1	T			101896299	+1	no_errors	NM_032787	genbank	human	provisional	54_36p	missense	SNP	0.454	C
RNF20	56254	genome.wustl.edu	37	9	104302596	104302596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr9:104302596C>T	ENST00000389120.3	+	3	331	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	81					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAAACTGGAACGACGACAGGC	0.418																																																0			9											171.0	154.0	160.0					9																	104302596		2203	4300	6503	103342417	SO:0001587	stop_gained	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.241C>T	9.37:g.104302596C>T	ENSP00000373772:p.Arg81*		103342417	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1	p.R81*	ENST00000389120.3	37	c.241	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200720	0.58126	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	.	.	.	4.17	4.17	0.49024	.	0.071328	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.6959	11.8379	0.52336	0.1752:0.8248:0.0:0.0	.	.	.	.	X	81;69;67;81;81;81	.	ENSP00000363952:R81X	R	+	1	2	RNF20	103342417	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.083000	0.64456	2.338000	0.79540	0.462000	0.41574	CGA	-	NULL		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	protein_coding	OTTHUMT00000356402.1	C	NM_019592		103342417	+1	no_errors	NM_019592	genbank	human	reviewed	54_36p	nonsense	SNP	0.997	T
SLC16A1	6566	genome.wustl.edu	37	1	113456691	113456691	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:113456691C>A	ENST00000538576.1	-	5	2156	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G442V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	442					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATAATTGATGCCCATGCCAAT	0.413																																																0			1											157.0	146.0	150.0					1																	113456691		2203	4300	6503	113258214	SO:0001583	missense	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1325G>T	1.37:g.113456691C>A	ENSP00000441065:p.Gly442Val		113258214	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.G442V	ENST00000538576.1	37	c.1325	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272356	0.23221	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	T;T;T	0.80393	-1.37;-1.37;2.27	5.91	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.142668	0.64402	D	0.000006	T	0.66973	0.2844	M	0.61703	1.905	0.80722	D	1	B	0.15473	0.013	B	0.23018	0.043	T	0.65681	-0.6109	10	0.18276	T	0.48	.	15.2599	0.73613	0.0:0.7344:0.2656:0.0	.	442	P53985	MOT1_HUMAN	V	442	ENSP00000358640:G442V;ENSP00000441065:G442V;ENSP00000416167:G442V	ENSP00000358640:G442V	G	-	2	0	SLC16A1	113258214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.600000	0.36762	1.507000	0.48752	-0.156000	0.13503	GGC	-	superfamily_MFS_gen_substrate_transporter		0.413	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	protein_coding	OTTHUMT00000033539.1	C	NM_003051		113258214	-1	no_errors	NM_003051	genbank	human	validated	54_36p	missense	SNP	1.000	A
ZBTB20	26137	genome.wustl.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20_ENST00000357258.3_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)											0			3											47.0	51.0	50.0					3																	114069698		2203	4300	6503	115552388	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1227C>T	3.37:g.114069698G>A			115552388	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P336	ENST00000474710.1	37	c.1008	CCDS54626.1	3																																																																																			-	NULL		0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	protein_coding	OTTHUMT00000354951.1	G	NM_015642		115552388	-1	no_errors	NM_015642	genbank	human	provisional	54_36p	silent	SNP	0.090	A
ADAD1	132612	genome.wustl.edu	37	4	123317479	123317479	+	Missense_Mutation	SNP	G	G	A	rs113377246		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr4:123317479G>A	ENST00000296513.2	+	7	856	c.671G>A	c.(670-672)cGt>cAt	p.R224H	ADAD1_ENST00000388725.2_Missense_Mutation_p.R206H|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.R224H	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	224					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.R224L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTAATCGTTCAGAATAC	0.274																																																1	Substitution - Missense(1)	lung(1)	4											54.0	60.0	58.0					4																	123317479		2200	4290	6490	123536929	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.671G>A	4.37:g.123317479G>A	ENSP00000296513:p.Arg224His		123536929	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_A_deamin	p.R224H	ENST00000296513.2	37	c.671	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	3.018	-0.202484	0.06219	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.29397	1.57;1.57;1.57	5.49	4.31	0.51392	Adenosine deaminase/editase (1);	0.265992	0.42964	N	0.000627	T	0.09069	0.0224	N	0.00677	-1.265	0.19775	N	0.999952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28933	-1.0028	10	0.15066	T	0.55	-7.6256	10.3901	0.44164	0.9216:0.0:0.0784:0.0	.	224;224	Q96M93-2;Q96M93	.;ADAD1_HUMAN	H	224;224;224;206	ENSP00000296513:R224H;ENSP00000373376:R224H;ENSP00000373377:R206H	ENSP00000296513:R224H	R	+	2	0	ADAD1	123536929	0.999000	0.42202	0.974000	0.42286	0.742000	0.42306	3.547000	0.53663	0.933000	0.37291	-0.238000	0.12139	CGT	-	HMMSmart_SM00552		0.274	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	protein_coding	OTTHUMT00000316452.1	G	NM_139243		123536929	+1	no_errors	NM_139243	genbank	human	provisional	54_36p	missense	SNP	1.000	A
MIR1204	100302185	genome.wustl.edu	37	8	128951788	128951788	+	IGR	SNP	C	C	T	rs76331627	byFrequency	TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr8:128951788C>T								PVT1 (143514 upstream) : TMEM75 (7337 downstream)																							TCCCGAGGTGCGCGGGTGACC	0.547													C|||	30	0.00599042	0.0	0.0086	5008	,	,		21409	0.0		0.0199	False		,,,				2504	0.0041															0			8																																								129020970	SO:0001628	intergenic_variant	5820																															8.37:g.128951788C>T			129020970		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.547					PVT1			C			129020970	+1	no_errors	NR_003367	genbank	human	validated	54_36p	rna	SNP	0.013	T
LOC349160	349160	genome.wustl.edu	37	7	136399912	136399912	+	RNA	SNP	G	G	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:136399912G>T	ENST00000586239.1	-	0	466																											GAAACAGGAAGGCACCCCTGA	0.428																																																0			7																																								136050452			392100																															7.37:g.136399912G>T			136050452		RNA	SNP	-	NULL	ENST00000586239.1	37	NULL		7																																																																																			-	-		0.428	hsa-mir-490.1-003	KNOWN	basic	antisense	LOC392100	antisense	OTTHUMT00000447748.1	G			136050452	+1	pseudogene	XR_017485	genbank	human	model	54_36p	rna	SNP	1.000	T
ARHGAP15	55843	genome.wustl.edu	37	2	143913084	143913084	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:143913084A>G	ENST00000295095.6	+	2	192	c.25A>G	c.(25-27)Act>Gct	p.T9A	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.T9A	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	9					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAATTCTGATACTTCCGTGGA	0.363																																																0			2											60.0	55.0	56.0					2																	143913084		2203	4300	6503	143629554	SO:0001583	missense	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.25A>G	2.37:g.143913084A>G	ENSP00000295095:p.Thr9Ala		143629554	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP	p.T9A	ENST00000295095.6	37	c.25	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526361	0.27299	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.06849	3.25	5.96	2.42	0.29668	.	0.558546	0.18908	N	0.127842	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43245	-0.9403	10	0.13108	T	0.6	.	5.9561	0.19273	0.7024:0.0:0.181:0.1166	.	9;9	B4E0R3;Q53QZ3	.;RHG15_HUMAN	A	9	ENSP00000295095:T9A	ENSP00000295095:T9A	T	+	1	0	ARHGAP15	143629554	0.118000	0.22208	0.803000	0.32268	0.712000	0.41017	0.611000	0.24268	1.069000	0.40788	-0.264000	0.10439	ACT	-	NULL		0.363	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	protein_coding	OTTHUMT00000254793.2	A	NM_018460		143629554	+1	no_errors	NM_018460	genbank	human	validated	54_36p	missense	SNP	0.138	G
FAT2	2196	genome.wustl.edu	37	5	150914029	150914029	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr5:150914029A>G	ENST00000261800.5	-	12	9380	c.9368T>C	c.(9367-9369)tTc>tCc	p.F3123S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3123	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTTGTCGAAGACAGCCAC	0.567																																																0			5											56.0	51.0	52.0					5																	150914029		2203	4300	6503	150894222	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9368T>C	5.37:g.150914029A>G	ENSP00000261800:p.Phe3123Ser		150894222	O75091|Q9NSR7	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2	p.F3123S	ENST00000261800.5	37	c.9368	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286962	0.59867	.	.	ENSG00000086570	ENST00000261800	T	0.02763	4.17	5.75	4.59	0.56863	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000008	T	0.04861	0.0131	N	0.21282	0.65	0.50813	D	0.999897	D	0.89917	1.0	D	0.91635	0.999	T	0.53570	-0.8420	10	0.06494	T	0.89	.	6.6844	0.23136	0.7923:0.0:0.0717:0.1361	.	3123	Q9NYQ8	FAT2_HUMAN	S	3123	ENSP00000261800:F3123S	ENSP00000261800:F3123S	F	-	2	0	FAT2	150894222	1.000000	0.71417	0.800000	0.32199	0.569000	0.35902	6.074000	0.71253	1.016000	0.39470	0.460000	0.39030	TTC	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	A	NM_001447		150894222	-1	no_errors	NM_001447	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
KRT8P45	149501	genome.wustl.edu	37	1	157043125	157043125	+	IGR	SNP	C	C	T	rs537331580		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:157043125C>T								ARHGEF11 (27963 upstream) : ETV3L (18710 downstream)																							CACTCCTACTCGAGTGGGCCC	0.637																																																0			1																																								155309749	SO:0001628	intergenic_variant	149501																															1.37:g.157043125C>T			155309749		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.637					LOC149501			C			155309749	+1	pseudogene	XR_017100	genbank	human	model	54_36p	rna	SNP	0.028	T
RBM46	166863	genome.wustl.edu	37	4	155720635	155720635	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr4:155720635A>T	ENST00000281722.3	+	4	1556	c.1321A>T	c.(1321-1323)Agt>Tgt	p.S441C	RBM46_ENST00000510397.1_Missense_Mutation_p.S441C|RBM46_ENST00000514866.1_Missense_Mutation_p.S441C	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	441							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGATCCCAGAGTTACTTCAT	0.368																																																0			4											30.0	32.0	31.0					4																	155720635		2164	4289	6453	155940085	SO:0001583	missense	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1321A>T	4.37:g.155720635A>T	ENSP00000281722:p.Ser441Cys		155940085	B3KWU8|B4DZ27	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.S441C	ENST00000281722.3	37	c.1321	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386368	0.61956	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.18338	2.23;2.22;2.37	6.08	6.08	0.98989	.	0.165435	0.64402	D	0.000014	T	0.25531	0.0621	L	0.40543	1.245	0.43408	D	0.995543	D;D;D	0.65815	0.995;0.962;0.987	P;P;P	0.51355	0.662;0.57;0.667	T	0.00374	-1.1780	10	0.51188	T	0.08	-23.4452	16.6512	0.85203	1.0:0.0:0.0:0.0	.	441;441;441	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	C	441	ENSP00000424500:S441C;ENSP00000281722:S441C;ENSP00000422813:S441C	ENSP00000281722:S441C	S	+	1	0	RBM46	155940085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.822000	0.62686	2.333000	0.79357	0.482000	0.46254	AGT	-	NULL		0.368	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	protein_coding	OTTHUMT00000365259.1	A	NM_144979		155940085	+1	no_errors	NM_144979	genbank	human	validated	54_36p	missense	SNP	0.970	T
UBE3C	9690	genome.wustl.edu	37	7	156990906	156990906	+	Intron	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:156990906C>T	ENST00000348165.5	+	11	1691					NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATTCAGACCGCTTACAAAAGG	0.418																																																0			7																																								156683667	SO:0001627	intron_variant	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1332-3509C>T	7.37:g.156990906C>T			156683667	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	RNA	SNP	-	NULL	ENST00000348165.5	37	NULL	CCDS34789.1	7																																																																																			-	-		0.418	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128269	protein_coding	OTTHUMT00000348108.1	C	NM_014671		156683667	-1	pseudogene	XR_038661	genbank	human	model	54_36p	rna	SNP	0.186	T
ADAM23	8745	genome.wustl.edu	37	2	207408002	207408002	+	Missense_Mutation	SNP	G	G	A	rs199943814		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:207408002G>A	ENST00000264377.3	+	6	1010	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	ADAM23_ENST00000374415.3_Missense_Mutation_p.V228M|ADAM23_ENST00000374416.1_Missense_Mutation_p.V228M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	228					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGATACCTTCGTGTATATGAT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18999	0.001		0.0	False		,,,				2504	0.0				Melanoma(194;1127 2130 19620 24042 27855)											0			2											164.0	137.0	146.0					2																	207408002		2203	4300	6503	207116247	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.682G>A	2.37:g.207408002G>A	ENSP00000264377:p.Val228Met		207116247	A2RU59	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_1"	p.V228M	ENST00000264377.3	37	c.682	CCDS2369.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.13	1.845534	0.32606	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.05996	3.36;3.36;3.36	5.43	3.26	0.37387	Peptidase M12B, propeptide (1);	0.137507	0.33813	N	0.004528	T	0.04588	0.0125	N	0.20483	0.58	0.32050	N	0.597027	B	0.29037	0.231	B	0.25884	0.064	T	0.10636	-1.0621	10	0.48119	T	0.1	.	10.729	0.46085	0.1801:0.0:0.8199:0.0	.	228	O75077	ADA23_HUMAN	M	228;228;122;228	ENSP00000264377:V228M;ENSP00000363537:V228M;ENSP00000363536:V228M	ENSP00000264377:V228M	V	+	1	0	ADAM23	207116247	0.955000	0.32602	0.816000	0.32577	0.827000	0.46813	0.389000	0.20751	1.284000	0.44531	0.555000	0.69702	GTG	-	HMMPfam_Pep_M12B_propep		0.433	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	protein_coding	OTTHUMT00000256431.2	G	NM_003812		207116247	+1	no_errors	NM_003812	genbank	human	reviewed	54_36p	missense	SNP	0.891	A
GPR55	9290	genome.wustl.edu	37	2	231775372	231775372	+	Silent	SNP	G	G	A	rs144507378		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:231775372G>A	ENST00000392040.1	-	2	498	c.306C>T	c.(304-306)ttC>ttT	p.F102F	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.F102F	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	102					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACATGCTGACGAAGTAAAGGC	0.592																																																0			2						G		0,4406		0,0,2203	66.0	44.0	52.0		306	0.2	0.8	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR55	NM_005683.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		102/320	231775372	1,13005	2203	4300	6503	231483616	SO:0001819	synonymous_variant	9290			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.306C>T	2.37:g.231775372G>A			231483616	Q8N580	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.F102	ENST00000392040.1	37	c.306	CCDS2480.1	2																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.592	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	protein_coding	OTTHUMT00000332618.1	G	NM_005683		231483616	-1	no_errors	NM_005683	genbank	human	validated	54_36p	silent	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42059416	42059438	+	Frame_Shift_Del	DEL	TTGGCACCTGTTGTGGCTAAATT	TTGGCACCTGTTGTGGCTAAATT	-	rs534951059|rs372873353	byFrequency	TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	TTGGCACCTGTTGTGGCTAAATT	TTGGCACCTGTTGTGGCTAAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr15:42059416_42059438delTTGGCACCTGTTGTGGCTAAATT	ENST00000570161.1	+	23	9136_9158	c.9136_9158delTTGGCACCTGTTGTGGCTAAATT	c.(9136-9159)ttggcacctgttgtggctaaattgfs	p.LAPVVAKL3046fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.LAPVVAKL2837fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.LAPVVAKL2837fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.LAPVVAKL3046fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.LAPVVAKL3007fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGCCTACATTGGCACCTGTTGTGGCTAAATTGGGCAACTCG	0.493																																																0			15																																								39846730	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.9136_9158delTTGGCACCTGTTGTGGCTAAATT	15.37:g.42059416_42059438delTTGGCACCTGTTGTGGCTAAATT	ENSP00000457035:p.Leu3046fs		39846708	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353	p.L3095fs	ENST00000570161.1	37	c.9283_9305	CCDS55959.1	15																																																																																			(deletion:cds_exon[39845494,39846770])	NULL		0.493	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	TTGGCACCTGTTGTGGCTAAATT	NM_001164273.1		39846730	+1	no_errors	NM_001080541	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:0.989:0.989:0.988:0.982:0.987:0.997:0.997:1.000:1.000:0.999:0.986:0.984	-
SIX4	51804	genome.wustl.edu	37	14	61190563	61190565	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	GCC	GCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr14:61190563_61190565delGCC	ENST00000216513.4	-	1	287_289	c.228_230delGGC	c.(226-231)gcggcc>gcc	p.76_77AA>A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	76	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		cgccgctccggccgccgccgccg	0.764																																																0			14								12,27,1747		1,0,10,8,11,863						0.9	0.9			3	49,4,3681		6,0,37,1,2,1821	no	codingComplex	SIX4	NM_017420.4		7,0,47,9,13,2684	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4194,2.1837,1.6667				61,31,5428				60260318	SO:0001651	inframe_deletion	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.228_230delGGC	14.37:g.61190572_61190574delGCC	ENSP00000216513:p.Ala77del		60260316	Q4QQH5|Q4V764	In_Frame_Del	DEL	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.A77in_frame_del	ENST00000216513.4	37	c.230_228	CCDS9749.2	14																																																																																			(deletion:cds_exon[60259683,60260545])	NULL		0.764	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	GCC			60260318	-1	no_errors	NM_017420	genbank	human	validated	54_36p	in_frame_del	DEL	0.893:0.952:0.971	-
OR8B4	283162	genome.wustl.edu	37	11	124294209	124294209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:124294209delA	ENST00000356130.3	-	1	580	c.559delT	c.(559-561)tccfs	p.S187fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGGTGCAGGAGAGCTGCAAG	0.498																																																0			11											80.0	57.0	65.0					11																	124294209		2201	4299	6500	123799419	SO:0001589	frameshift_variant	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.559delT	11.37:g.124294209delA	ENSP00000348449:p.Ser187fs		123799419	B2RNF8|Q6IFQ7	Frame_Shift_Del	DEL	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S187fs	ENST00000356130.3	37	c.559	CCDS31710.1	11																																																																																			(deletion:cds_exon[123799048,123799977])	superfamily_SSF81321,HMMPfam_7tm_1		0.498	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	protein_coding	OTTHUMT00000387055.1	A	NM_001005196		123799419	-1	no_errors	NM_001005196	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000	-
