#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ZNF804B	219578	hgsc.bcm.edu	37	7	88963753	88963753	+	Missense_Mutation	SNP	G	G	A	rs564184656		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr7:88963753G>A	ENST00000333190.4	+	4	2066	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	486							metal ion binding (GO:0046872)	p.R486Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCTTTCTCGGAACACAAAG	0.408										HNSCC(36;0.09)																											p.R486Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457A	7						.						48.0	48.0	48.0					7																	88963753		2202	4299	6501	88801689	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1457G>A	7.37:g.88963753G>A	ENSP00000329638:p.Arg486Gln		88801689	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121416	0.56613	.	.	ENSG00000182348	ENST00000333190	T	0.07216	3.21	5.49	4.6	0.57074	.	0.219897	0.32106	N	0.006573	T	0.07863	0.0197	M	0.64567	1.98	0.29583	N	0.848993	D	0.54047	0.964	B	0.35607	0.206	T	0.20107	-1.0285	10	0.27082	T	0.32	-11.976	9.5703	0.39425	0.0766:0.0:0.7503:0.173	.	486	A4D1E1	Z804B_HUMAN	Q	486	ENSP00000329638:R486Q	ENSP00000329638:R486Q	R	+	2	0	ZNF804B	88801689	0.996000	0.38824	0.997000	0.53966	0.877000	0.50540	2.337000	0.43947	2.865000	0.98341	0.655000	0.94253	CGG		0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
SAMD9L	219285	hgsc.bcm.edu	37	7	92761754	92761754	+	Silent	SNP	G	G	A	rs186408432		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr7:92761754G>A	ENST00000318238.4	-	5	4747	c.3531C>T	c.(3529-3531)acC>acT	p.T1177T	SAMD9L_ENST00000411955.1_Silent_p.T1177T|SAMD9L_ENST00000437805.1_Silent_p.T1177T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1177					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.T1177T(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCAGTTCTCGGTTTCATAGT	0.403													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19020	0.0		0.0	False		,,,				2504	0.0				p.T1177T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3531T	7						.						174.0	177.0	176.0					7																	92761754		2203	4300	6503	92599690	SO:0001819	synonymous_variant	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3531C>T	7.37:g.92761754G>A			92599690	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SLC8A3	6547	hgsc.bcm.edu	37	14	70634135	70634135	+	Silent	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr14:70634135C>T	ENST00000381269.2	-	2	1758	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	SLC8A3_ENST00000534137.1_Silent_p.L335L|SLC8A3_ENST00000357887.3_Silent_p.L335L|SLC8A3_ENST00000356921.2_Silent_p.L335L|SLC8A3_ENST00000528359.1_Silent_p.L335L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	335					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.L335L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCTCCACCAGCTGATCTA	0.512																																					p.L335L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1005A	14						.						103.0	105.0	105.0					14																	70634135		2203	4300	6503	69703888	SO:0001819	synonymous_variant	6547	exon2			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1005G>A	14.37:g.70634135C>T			69703888	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
CNN1	1264	hgsc.bcm.edu	37	19	11660430	11660430	+	Silent	SNP	C	C	T	rs143956883		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr19:11660430C>T	ENST00000252456.2	+	7	925	c.714C>T	c.(712-714)tgC>tgT	p.C238C	CNN1_ENST00000592923.1_Silent_p.C188C|CNN1_ENST00000535659.2_Silent_p.C188C|CNN1_ENST00000544952.1_Silent_p.C218C	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	238					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.C238C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGAGCACTGCGACACGCTCA	0.667																																					p.C238C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	19						.	C		0,4406		0,0,2203	42.0	42.0	42.0		714	-8.0	0.7	19	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNN1	NM_001299.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/298	11660430	1,13005	2203	4300	6503	11521430	SO:0001819	synonymous_variant	1264	exon7			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.714C>T	19.37:g.11660430C>T			11521430	NM_001299	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	CCDS12263.1																																																																																				0.667	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299	
C5AR1	728	hgsc.bcm.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr19:47823716C>T	ENST00000355085.3	+	2	704	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	228					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.R228R(1)|p.R228W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612																																					p.S227S												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C681T	19						.	C	TRP/ARG	0,4406		0,0,2203	90.0	91.0	90.0		682	3.8	0.5	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5AR1	NM_001736.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	228/351	47823716	1,13005	2203	4300	6503	52515556	SO:0001583	missense	728	exon2				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.682C>T	19.37:g.47823716C>T	ENSP00000347197:p.Arg228Trp		52515556	NM_001736		Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	c	18.81	3.703137	0.68501	0.0	1.16E-4	ENSG00000197405	ENST00000355085	T	0.38240	1.15	4.96	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.300687	0.28958	U	0.013589	T	0.51109	0.1655	M	0.93150	3.385	0.31226	N	0.696887	P	0.49862	0.929	B	0.44044	0.439	T	0.69577	-0.5108	10	0.87932	D	0	.	11.323	0.49433	0.1818:0.8182:0.0:0.0	.	228	P21730	C5AR_HUMAN	W	228	ENSP00000347197:R228W	ENSP00000347197:R228W	R	+	1	2	C5AR1	52515556	0.000000	0.05858	0.522000	0.27862	0.827000	0.46813	0.307000	0.19296	2.280000	0.76307	0.472000	0.43445	CGG		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736	
VRK3	51231	hgsc.bcm.edu	37	19	50510977	50510977	+	Missense_Mutation	SNP	C	C	A	rs556929739|rs3217382	byFrequency	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr19:50510977C>A	ENST00000599538.1	-	5	1060	c.396G>T	c.(394-396)aaG>aaT	p.K132N	VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.K132N|VRK3_ENST00000594948.1_Missense_Mutation_p.K132N|VRK3_ENST00000601341.1_Missense_Mutation_p.K82N|VRK3_ENST00000601912.1_Missense_Mutation_p.K82N|VRK3_ENST00000377011.2_Missense_Mutation_p.K82N|VRK3_ENST00000316763.3_Missense_Mutation_p.K132N|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.K132N			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	132					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.K132N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGCCTGGTCTTCTGAGGGC	0.607																																					p.K82N	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G246T	19						.						144.0	130.0	135.0					19																	50510977		2203	4300	6503	55202789	SO:0001583	missense	51231	exon4			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.396G>T	19.37:g.50510977C>A	ENSP00000469880:p.Lys132Asn		55202789	NM_001025778	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402197	0.04865	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.26067	1.78;1.76	1.96	-2.41	0.06562	.	5.473310	0.01532	U	0.018876	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.24882	0.026;0.113;0.024;0.026;0.008	B;B;B;B;B	0.23852	0.003;0.019;0.002;0.006;0.049	T	0.17776	-1.0358	10	0.49607	T	0.09	.	3.5691	0.07910	0.0:0.4806:0.2461:0.2733	.	132;132;132;82;132	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	N	132;82;132	ENSP00000324636:K132N;ENSP00000366210:K82N	ENSP00000324636:K132N	K	-	3	2	VRK3	55202789	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-3.843000	0.00352	-0.602000	0.05775	-0.175000	0.13238	AAG		0.607	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	
TEX15	56154	hgsc.bcm.edu	37	8	30705385	30705385	+	Silent	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr8:30705385C>T	ENST00000256246.2	-	1	1223	c.1149G>A	c.(1147-1149)ccG>ccA	p.P383P	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	383			P -> L (in dbSNP:rs9297162).		fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.P383P(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTGGTTTCGGGAAAGCTT	0.338																																					p.P383P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1149A	8						.						103.0	101.0	102.0					8																	30705385		2203	4299	6502	30824927	SO:0001819	synonymous_variant	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1149G>A	8.37:g.30705385C>T			30824927	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
SLC26A7	115111	hgsc.bcm.edu	37	8	92378849	92378849	+	Silent	SNP	G	G	A	rs138837325	byFrequency	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr8:92378849G>A	ENST00000276609.3	+	14	1769	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	SLC26A7_ENST00000523719.1_Silent_p.P510P|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.P510P	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.P510P(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAAACAACCCGCTTGTTTTCC	0.338													g|||	2	0.000399361	0.0015	0.0	5008	,	,		15993	0.0		0.0	False		,,,				2504	0.0				p.P510P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1530A	8						.	A	,	3,4403	6.2+/-15.9	0,3,2200	53.0	58.0	56.0		1530,1530	-1.9	1.0	8	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC26A7	NM_052832.2,NM_134266.1	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	510/657,510/664	92378849	3,13003	2203	4300	6503	92448025	SO:0001819	synonymous_variant	115111	exon14			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1530G>A	8.37:g.92378849G>A			92448025	NM_134266		Silent	SNP	ENST00000276609.3	37	CCDS6254.1																																																																																				0.338	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
EXT1	2131	hgsc.bcm.edu	37	8	118830735	118830735	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr8:118830735G>T	ENST00000378204.2	-	7	2377	c.1571C>A	c.(1570-1572)cCa>cAa	p.P524Q		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	524					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.P524Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGTTTGGCTGGTAGGGGCTT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.P524Q		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1571A	8						.						133.0	132.0	132.0					8																	118830735		2203	4300	6503	118899916	SO:0001583	missense	2131	exon7	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1571C>A	8.37:g.118830735G>T	ENSP00000367446:p.Pro524Gln		118899916	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	g	32	5.116630	0.94385	.	.	ENSG00000182197	ENST00000378204	T	0.76839	-1.05	5.26	5.26	0.73747	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90886	0.4757	10	0.72032	D	0.01	-14.7636	19.225	0.93815	0.0:0.0:1.0:0.0	.	524	Q16394	EXT1_HUMAN	Q	524	ENSP00000367446:P524Q	ENSP00000367446:P524Q	P	-	2	0	EXT1	118899916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.416000	0.97383	2.610000	0.88304	0.563000	0.77884	CCA		0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
BCAN	63827	hgsc.bcm.edu	37	1	156622115	156622115	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr1:156622115A>T	ENST00000329117.5	+	8	1709	c.1373A>T	c.(1372-1374)aAa>aTa	p.K458I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.K458I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	458	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.K458I(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					gaagaagagaaatatgaagat	0.527																																					p.K458I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1373T	1						.						37.0	36.0	36.0					1																	156622115		2203	4300	6503	154888739	SO:0001583	missense	63827	exon8			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1373A>T	1.37:g.156622115A>T	ENSP00000331210:p.Lys458Ile		154888739	NM_021948	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	A	2.318	-0.356344	0.05138	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.15834	2.39;3.11	3.91	-0.118	0.13547	.	0.570592	0.15261	N	0.271789	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	B;B	0.16802	0.006;0.019	B;B	0.12156	0.001;0.007	T	0.43327	-0.9398	10	0.35671	T	0.21	0.4777	3.8577	0.08982	0.4004:0.4428:0.1568:0.0	.	458;458	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	397;458;458	ENSP00000331210:K458I;ENSP00000354925:K458I	ENSP00000255029:K397I	K	+	2	0	BCAN	154888739	0.132000	0.22450	0.002000	0.10522	0.299000	0.27559	0.537000	0.23144	-0.112000	0.11979	0.454000	0.30748	AAA		0.527	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156928637	156928637	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr1:156928637G>T	ENST00000361409.2	-	16	2021	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L467M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	427	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L467M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTGCCCAGCCCCAGTGTG	0.502																																					p.L467M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1399A	1						.						52.0	51.0	51.0					1																	156928637		2203	4300	6503	155195261	SO:0001583	missense	9826	exon17			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1279C>A	1.37:g.156928637G>T	ENSP00000354644:p.Leu427Met		155195261	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528385	0.64860	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.85088	-1.94;-1.94	4.98	4.98	0.66077	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.44688	D	0.000431	D	0.86121	0.5857	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.97110	1.0;0.857	D	0.86791	0.1985	10	0.56958	D	0.05	-10.4885	11.5121	0.50498	0.0827:0.0:0.9173:0.0	.	427;467	O15085;O15085-2	ARHGB_HUMAN;.	M	467;427	ENSP00000357177:L467M;ENSP00000354644:L427M	ENSP00000354644:L427M	L	-	1	2	ARHGEF11	155195261	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.711000	0.54868	2.606000	0.88127	0.491000	0.48974	CTG		0.502	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
RNASEL	6041	hgsc.bcm.edu	37	1	182555401	182555401	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr1:182555401C>T	ENST00000367559.3	-	2	794	c.541G>A	c.(541-543)Gta>Ata	p.V181I	RNASEL_ENST00000539397.1_Missense_Mutation_p.V181I|RNASEL_ENST00000444138.1_Missense_Mutation_p.V181I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	181					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.V181I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AAGACCTCTACGTGTCCTTTT	0.502																																					p.V181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	1						.																																			180822024	SO:0001583	missense	6041	exon2			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.541G>A	1.37:g.182555401C>T	ENSP00000356530:p.Val181Ile		180822024	NM_021133	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396373	0.25205	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.64438	-0.1;-0.1;-0.1	4.81	-6.17	0.02091	Ankyrin repeat-containing domain (3);	1.821930	0.02904	N	0.135743	T	0.46347	0.1388	L	0.41906	1.305	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.13407	0.009;0.005;0.009	T	0.16541	-1.0399	10	0.33940	T	0.23	-0.2499	3.3124	0.07021	0.0902:0.2215:0.3662:0.322	.	181;181;181	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	I	181	ENSP00000356530:V181I;ENSP00000411147:V181I;ENSP00000440844:V181I	ENSP00000356530:V181I	V	-	1	0	RNASEL	180822024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.598000	0.02087	-1.242000	0.02523	-1.429000	0.01096	GTA		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133	
STIL	6491	hgsc.bcm.edu	37	1	47746485	47746485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr1:47746485C>T	ENST00000360380.3	-	13	2008	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	STIL_ENST00000243182.6_Missense_Mutation_p.E549K|STIL_ENST00000371877.3_Missense_Mutation_p.E549K|STIL_ENST00000396221.2_Missense_Mutation_p.E549K|STIL_ENST00000337817.5_Missense_Mutation_p.E549K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	549					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E549K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGATACTCTTCGTTTTGTACA	0.423																																					p.E549K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1645A	1						.						125.0	136.0	132.0					1																	47746485		2203	4300	6503	47519072	SO:0001583	missense	6491	exon12			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1645G>A	1.37:g.47746485C>T	ENSP00000353544:p.Glu549Lys		47519072	NM_001048166	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	7.347	0.621994	0.14193	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	2.17;2.17;2.17;2.16;2.17;0.82	5.1	3.21	0.36854	.	0.485105	0.22993	N	0.053171	T	0.31575	0.0801	L	0.29908	0.895	0.33186	D	0.5502	B;B;B;B;B	0.13145	0.002;0.007;0.002;0.007;0.007	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.33828	-0.9853	10	0.13108	T	0.6	-11.92	10.5952	0.45333	0.0:0.7947:0.1329:0.0724	.	549;502;549;549;549	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	549;549;549;549;549;502	ENSP00000353544:E549K;ENSP00000337367:E549K;ENSP00000360944:E549K;ENSP00000379523:E549K;ENSP00000243182:E549K;ENSP00000411664:E502K	ENSP00000243182:E549K	E	-	1	0	STIL	47519072	1.000000	0.71417	0.826000	0.32828	0.098000	0.18820	2.775000	0.47702	0.538000	0.28769	-0.137000	0.14449	GAA		0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
GPATCH2	55105	hgsc.bcm.edu	37	1	217604614	217604614	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr1:217604614C>T	ENST00000366935.3	-	10	1570	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	487	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.G487E(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GCCATCTCGTCCAAGGCCTGA	0.468																																					p.G487E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460A	1						.						128.0	131.0	130.0					1																	217604614		2203	4300	6503	215671237	SO:0001583	missense	55105	exon10			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1460G>A	1.37:g.217604614C>T	ENSP00000355902:p.Gly487Glu		215671237	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212645	0.95069	.	.	ENSG00000092978	ENST00000366935	D	0.99270	-5.66	5.83	5.83	0.93111	D111/G-patch (3);	0.053233	0.85682	D	0.000000	D	0.99789	0.9911	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96773	0.9570	10	0.87932	D	0	-7.8251	20.111	0.97911	0.0:1.0:0.0:0.0	.	487	Q9NW75	GPTC2_HUMAN	E	487	ENSP00000355902:G487E	ENSP00000355902:G487E	G	-	2	0	GPATCH2	215671237	1.000000	0.71417	0.922000	0.36590	0.999000	0.98932	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	GGA		0.468	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
OR6T1	219874	hgsc.bcm.edu	37	11	123813764	123813764	+	Missense_Mutation	SNP	C	C	T	rs539085460		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr11:123813764C>T	ENST00000321252.2	-	1	816	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCTGACATACGAATGTAGAG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20777	0.001		0.0	False		,,,				2504	0.0				p.R261H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G782A	11						.						207.0	175.0	186.0					11																	123813764		2202	4299	6501	123318974	SO:0001583	missense	219874	exon1			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.782G>A	11.37:g.123813764C>T	ENSP00000325203:p.Arg261His		123318974	NM_001005187	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371954	0.24857	.	.	ENSG00000181499	ENST00000321252	T	0.37752	1.18	3.39	0.304	0.15796	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45074	0.1324	M	0.69523	2.12	0.09310	N	1	D	0.55800	0.973	P	0.55260	0.772	T	0.32214	-0.9915	9	0.87932	D	0	-19.2553	3.701	0.08382	0.0:0.4506:0.1907:0.3587	.	261	Q8NGN1	OR6T1_HUMAN	H	261	ENSP00000325203:R261H	ENSP00000325203:R261H	R	-	2	0	OR6T1	123318974	0.000000	0.05858	0.002000	0.10522	0.199000	0.23934	-1.798000	0.01747	0.152000	0.19188	0.563000	0.77884	CGT		0.512	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
JARID2	3720	hgsc.bcm.edu	37	6	15497242	15497242	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr6:15497242C>T	ENST00000341776.2	+	7	2030	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	JARID2_ENST00000397311.3_Missense_Mutation_p.R424W|JARID2_ENST00000541660.1_Missense_Mutation_p.R558W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	596	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R596W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCGGACTGGCGGCCCGAGTG	0.642																																					p.R596W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786T	6						.						48.0	43.0	45.0					6																	15497242		2202	4300	6502	15605221	SO:0001583	missense	3720	exon7			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1786C>T	6.37:g.15497242C>T	ENSP00000341280:p.Arg596Trp		15605221	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947418	0.73672	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89810	-1.92;-1.92;-2.57	5.23	3.19	0.36642	Transcription factor jumonji, JmjN (2);	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.77616	2.38	0.58432	D	0.999996	D;D;D	0.69078	0.965;0.997;0.997	B;P;P	0.50136	0.324;0.632;0.543	D	0.89184	0.3546	10	0.72032	D	0.01	-12.2405	12.8344	0.57765	0.4511:0.5489:0.0:0.0	.	558;460;596	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	W	460;596;424;558	ENSP00000341280:R596W;ENSP00000380478:R424W;ENSP00000444623:R558W	ENSP00000341280:R596W	R	+	1	2	JARID2	15605221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.128000	0.31369	1.166000	0.42689	0.511000	0.50034	CGG		0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
EFTUD2	9343	hgsc.bcm.edu	37	17	42937906	42937906	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr17:42937906T>A	ENST00000426333.2	-	17	1910	c.1613A>T	c.(1612-1614)cAc>cTc	p.H538L	EFTUD2_ENST00000592576.1_Missense_Mutation_p.H528L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H538L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H503L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	538					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.H538L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CACCTCGATGTGGTACCTGAA	0.423																																					p.H538L	Ovarian(10;65 485 10258 29980 30707)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1613T	17						.						119.0	97.0	105.0					17																	42937906		2203	4300	6503	40293432	SO:0001583	missense	9343	exon17			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1613A>T	17.37:g.42937906T>A	ENSP00000392094:p.His538Leu		40293432	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133070	0.56828	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.62232	0.04;0.04	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.045334	0.85682	D	0.000000	T	0.31827	0.0809	N	0.00966	-1.09	0.58432	D	0.99999	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.30327	-0.9982	10	0.13853	T	0.58	-11.2836	15.129	0.72507	0.0:0.0:0.0:1.0	.	528;538	B4DMC0;Q15029	.;U5S1_HUMAN	L	538;528;503	ENSP00000392094:H538L;ENSP00000385873:H503L	ENSP00000262414:H528L	H	-	2	0	EFTUD2	40293432	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.061000	0.71148	2.240000	0.73641	0.528000	0.53228	CAC		0.423	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
TP53	7157	hgsc.bcm.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	G	rs11575996		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr17:7576853C>G	ENST00000269305.4	-	9	1182	c.993G>C	c.(991-993)caG>caC	p.Q331H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site_p.Q331H|TP53_ENST00000445888.2_Splice_Site_p.Q331H|TP53_ENST00000420246.2_Splice_Site_p.Q331H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.Q331H	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)	GACTTAGTACCTGAAGGGTGA	0.453		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)																											p.Q331H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Nonsense,-2	.	21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(1)	c.G993C	17						.						115.0	108.0	110.0					17																	7576853		2203	4300	6503	7517578	SO:0001630	splice_region_variant	7157	exon9	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.993+1G>C	17.37:g.7576853C>G			7517578	NM_001126114	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	ENST00000269305.4	37	CCDS11118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.686997|2.686997	0.48097|0.48097	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99771|.	-5.93;-3.18;-5.92;-5.91;-3.18;-6.71|.	4.95|4.95	4.95|4.95	0.65309|0.65309	p53, tetramerisation domain (3);|.	0.253251|.	0.40469|.	N|.	0.001098|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.45352|0.45352	1.415|1.415	0.41463|0.41463	D|D	0.988058|0.988058	B;B;B;B|.	0.24963|.	0.112;0.013;0.026;0.115|.	B;B;B;B|.	0.32762|.	0.152;0.012;0.052;0.072|.	T|T	0.56414|0.56414	-0.7983|-0.7983	9|5	.|.	.|.	.|.	-17.7352|-17.7352	13.5611|13.5611	0.61790|0.61790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;331;331|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	H|T	331;331;331;331;331;320;199|18	ENSP00000352610:Q331H;ENSP00000269305:Q331H;ENSP00000398846:Q331H;ENSP00000391127:Q331H;ENSP00000391478:Q331H;ENSP00000425104:Q199H|.	.|.	Q|S	-|-	3|2	2|0	TP53|TP53	7517578|7517578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.665000|0.665000	0.39181|0.39181	3.347000|3.347000	0.52200|0.52200	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation
SLC16A5	9121	hgsc.bcm.edu	37	17	73094270	73094270	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr17:73094270A>T	ENST00000450736.2	+	3	752	c.337A>T	c.(337-339)Atc>Ttc	p.I113F	SLC16A5_ENST00000538213.2_Missense_Mutation_p.I153F|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Missense_Mutation_p.I113F|SLC16A5_ENST00000329783.4_Missense_Mutation_p.I113F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	113					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.I113F(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCAGGATTCATCACAGGTGA	0.557																																					p.I113F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337T	17						.						112.0	116.0	115.0					17																	73094270		2203	4300	6503	70605865	SO:0001583	missense	9121	exon4			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.337A>T	17.37:g.73094270A>T	ENSP00000390564:p.Ile113Phe		70605865	NM_004695	B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	a	7.068	0.567669	0.13560	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.52057	0.68;0.68;0.68	4.76	3.66	0.41972	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212320	0.48767	N	0.000177	T	0.47395	0.1443	M	0.78223	2.4	0.80722	D	1	B;B	0.26602	0.154;0.154	B;B	0.32677	0.15;0.15	T	0.47058	-0.9146	10	0.59425	D	0.04	.	4.5572	0.12141	0.7004:0.0:0.1548:0.1448	.	153;113	B4E288;O15375	.;MOT6_HUMAN	F	113;113;153	ENSP00000330141:I113F;ENSP00000390564:I113F;ENSP00000440212:I153F	ENSP00000330141:I113F	I	+	1	0	SLC16A5	70605865	1.000000	0.71417	0.949000	0.38748	0.363000	0.29612	3.123000	0.50453	0.639000	0.30564	0.375000	0.23000	ATC		0.557	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695	
IGSF5	150084	hgsc.bcm.edu	37	21	41143131	41143131	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr21:41143131G>A	ENST00000380588.4	+	4	810	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	236					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R236Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACTGTGATTCGGTGTCCCCAA	0.468																																					p.R236Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707A	21						.						69.0	70.0	70.0					21																	41143131		2203	4300	6503	40065001	SO:0001583	missense	150084	exon4				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.707G>A	21.37:g.41143131G>A	ENSP00000369962:p.Arg236Gln		40065001	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	2.087	-0.409401	0.04799	.	.	ENSG00000183067	ENST00000380588	T	0.09445	2.98	5.0	-4.97	0.03029	.	1.117700	0.06543	N	0.743558	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.10450	0.005	T	0.45234	-0.9275	10	0.16420	T	0.52	-0.7271	11.4031	0.49880	0.2894:0.6386:0.072:0.0	.	236	Q9NSI5	IGSF5_HUMAN	Q	236	ENSP00000369962:R236Q	ENSP00000369962:R236Q	R	+	2	0	IGSF5	40065001	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.759000	0.04761	-0.922000	0.03789	-1.224000	0.01588	CGG		0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
RBMS3	27303	hgsc.bcm.edu	37	3	29910400	29910400	+	Missense_Mutation	SNP	G	G	A	rs534301556		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr3:29910400G>A	ENST00000383767.2	+	7	1025	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	RBMS3_ENST00000452462.1_Missense_Mutation_p.R230Q|RBMS3_ENST00000434693.2_Missense_Mutation_p.R229Q|RBMS3_ENST00000273139.9_Missense_Mutation_p.R230Q|RBMS3_ENST00000456853.1_Missense_Mutation_p.R230Q|RBMS3_ENST00000396583.3_Missense_Mutation_p.R230Q|RBMS3_ENST00000445033.1_Missense_Mutation_p.R230Q|RBMS3_ENST00000383766.2_Missense_Mutation_p.R229Q			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	230					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.R230Q(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAAAAGAAGCGACAGAATCAA	0.458																																					p.R230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	3						.						69.0	63.0	65.0					3																	29910400		2203	4300	6503	29885404	SO:0001583	missense	27303	exon7			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.689G>A	3.37:g.29910400G>A	ENSP00000373277:p.Arg230Gln		29885404	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	36	5.714755	0.96830	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.74632	-0.86;1.52;-0.86;-0.86;-0.86;1.72;-0.86;1.52	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.87038	2.855	0.80722	D	1	D;D;D;P	0.59357	0.971;0.985;0.971;0.893	P;P;P;P	0.56514	0.8;0.8;0.8;0.517	D	0.87073	0.2161	9	.	.	.	.	20.2165	0.98299	0.0:0.0:1.0:0.0	.	230;230;229;230	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Q	229;230;230;230;230;229;230;230	ENSP00000395592:R229Q;ENSP00000379828:R230Q;ENSP00000373277:R230Q;ENSP00000391934:R230Q;ENSP00000273139:R230Q;ENSP00000373276:R229Q;ENSP00000397926:R230Q;ENSP00000400519:R230Q	.	R	+	2	0	RBMS3	29885404	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	9.869000	0.99810	2.781000	0.95711	0.591000	0.81541	CGA		0.458	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
VILL	50853	hgsc.bcm.edu	37	3	38043301	38043301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr3:38043301G>A	ENST00000283713.6	+	13	1695	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	VILL_ENST00000465644.1_Missense_Mutation_p.E195K|VILL_ENST00000383759.2_Missense_Mutation_p.E477K			O15195	VILL_HUMAN	villin-like	477					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.E477K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATGGGCAGCGAGCCCCCCCA	0.597																																					p.E477K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1429A	3						.						141.0	120.0	127.0					3																	38043301		2203	4300	6503	38018305	SO:0001583	missense	50853	exon12				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1429G>A	3.37:g.38043301G>A	ENSP00000283713:p.Glu477Lys		38018305	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274290	0.80580	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.52526	0.66;0.66;0.66	4.98	4.98	0.66077	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	H	0.94582	3.555	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.85080	0.0945	10	0.87932	D	0	-37.3059	18.2136	0.89878	0.0:0.0:1.0:0.0	.	463;477	O15195-2;O15195	.;VILL_HUMAN	K	477;477;463;195	ENSP00000283713:E477K;ENSP00000373266:E477K;ENSP00000422096:E195K	ENSP00000283713:E477K	E	+	1	0	VILL	38018305	1.000000	0.71417	0.969000	0.41365	0.171000	0.22731	9.745000	0.98856	2.485000	0.83878	0.400000	0.26472	GAG		0.597	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
SCN11A	11280	hgsc.bcm.edu	37	3	38962578	38962578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr3:38962578G>A	ENST00000302328.3	-	6	1079	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SCN11A_ENST00000444237.2_Missense_Mutation_p.P294L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P294L|SCN11A_ENST00000456224.3_Missense_Mutation_p.P294L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	294					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P294L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAAGCTTCCGGGTTACTGAT	0.443																																					p.P294L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C881T	3						.						238.0	248.0	245.0					3																	38962578		2203	4300	6503	38937582	SO:0001583	missense	11280	exon6			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.881C>T	3.37:g.38962578G>A	ENSP00000307599:p.Pro294Leu		38937582	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.104664	0.00356	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96200	-3.94;-3.94;-3.9;-3.81	3.66	-7.31	0.01441	Ion transport (1);	6.888540	0.00166	N	0.000005	D	0.86690	0.5993	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80339	-0.1424	10	0.23302	T	0.38	.	4.4648	0.11684	0.1034:0.091:0.2446:0.561	.	294	Q9UI33	SCNBA_HUMAN	L	294	ENSP00000307599:P294L;ENSP00000400945:P294L;ENSP00000416757:P294L;ENSP00000408028:P294L	ENSP00000307599:P294L	P	-	2	0	SCN11A	38937582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.084000	0.00298	-3.656000	0.00125	-2.186000	0.00314	CCG		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
BCHE	590	hgsc.bcm.edu	37	3	165547581	165547581	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr3:165547581C>T	ENST00000264381.3	-	2	1407	c.1241G>A	c.(1240-1242)cGt>cAt	p.R414H	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	414			R -> C (in BChE deficiency). {ECO:0000269|PubMed:12881446, ECO:0000269|PubMed:15563885}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.R414H(1)|p.R414P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAGGCCTCACGGTAGTTTTC	0.408																																					p.R414H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1241A	3						.						78.0	84.0	82.0					3																	165547581		2203	4300	6503	167030275	SO:0001583	missense	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1241G>A	3.37:g.165547581C>T	ENSP00000264381:p.Arg414His		167030275	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092070	0.55968	.	.	ENSG00000114200	ENST00000264381	D	0.95724	-3.79	5.46	5.46	0.80206	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.99250	1.0887	10	0.87932	D	0	.	18.2829	0.90104	0.0:1.0:0.0:0.0	.	414	P06276	CHLE_HUMAN	H	414	ENSP00000264381:R414H	ENSP00000264381:R414H	R	-	2	0	BCHE	167030275	1.000000	0.71417	0.996000	0.52242	0.291000	0.27294	7.222000	0.78025	2.570000	0.86706	0.591000	0.81541	CGT		0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
ATXN2	6311	hgsc.bcm.edu	37	12	111948218	111948218	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr12:111948218G>A	ENST00000377617.3	-	12	2368	c.2207C>T	c.(2206-2208)tCg>tTg	p.S736L	ATXN2_ENST00000550104.1_Missense_Mutation_p.S736L|ATXN2_ENST00000608853.1_Missense_Mutation_p.S576L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S447L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S471L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S471L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	736					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.S736L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGCTCTGTTCGATGCAGGACT	0.468																																					p.S736L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2207T	12						.						158.0	158.0	158.0					12																	111948218		2203	4300	6503	110432601	SO:0001583	missense	6311	exon12			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2207C>T	12.37:g.111948218G>A	ENSP00000366843:p.Ser736Leu		110432601	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907341	0.72868	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000546483	T;T	0.68479	-0.27;-0.33	6.17	5.29	0.74685	.	0.199767	0.53938	D	0.000042	T	0.58864	0.2152	L	0.50333	1.59	0.46336	D	0.998999	B;B;B	0.10296	0.003;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.55515	-0.8129	10	0.09338	T	0.73	-2.3026	15.4423	0.75195	0.0659:0.0:0.9341:0.0	.	736;447;471	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	L	471;736;736;471;447;15	ENSP00000366843:S736L;ENSP00000446576:S736L	ENSP00000366843:S736L	S	-	2	0	ATXN2	110432601	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.236000	0.78154	1.627000	0.50400	0.655000	0.94253	TCG		0.468	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
DIP2B	57609	hgsc.bcm.edu	37	12	51112515	51112515	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr12:51112515G>T	ENST00000301180.5	+	24	2909	c.2875G>T	c.(2875-2877)Gtt>Ttt	p.V959F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	959						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V959F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCCGTGATGGTTGGGAATCT	0.463																																					p.V959F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2875T	12						.						147.0	122.0	130.0					12																	51112515		2203	4300	6503	49398782	SO:0001583	missense	57609	exon24			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2875G>T	12.37:g.51112515G>T	ENSP00000301180:p.Val959Phe		49398782	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023461	0.93462	.	.	ENSG00000066084	ENST00000301180	T	0.26518	1.73	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.83603	2.65	0.80722	D	1	D	0.57899	0.981	P	0.56343	0.796	T	0.57670	-0.7771	10	0.72032	D	0.01	-18.8738	18.9332	0.92574	0.0:0.0:1.0:0.0	.	959	Q9P265	DIP2B_HUMAN	F	959	ENSP00000301180:V959F	ENSP00000301180:V959F	V	+	1	0	DIP2B	49398782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.230000	0.78097	2.885000	0.99019	0.655000	0.94253	GTT		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
CCDC60	160777	hgsc.bcm.edu	37	12	119942914	119942914	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr12:119942914G>A	ENST00000327554.2	+	7	1154	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	230								p.R230H(2)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACCAACCGCAAACCAAGC	0.527																																					p.R230H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G689A	12						.						65.0	72.0	70.0					12																	119942914		2203	4300	6503	118427297	SO:0001583	missense	160777	exon7			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.689G>A	12.37:g.119942914G>A	ENSP00000333374:p.Arg230His		118427297	NM_178499		Missense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491619	0.12702	.	.	ENSG00000183273	ENST00000327554	T	0.28255	1.62	5.07	2.26	0.28386	.	0.427916	0.19810	N	0.105546	T	0.21962	0.0529	L	0.42245	1.32	0.09310	N	1	B	0.21309	0.054	B	0.14023	0.01	T	0.19549	-1.0302	9	.	.	.	-3.5365	7.2921	0.26372	0.2797:0.0:0.7203:0.0	.	230	Q8IWA6	CCD60_HUMAN	H	230	ENSP00000333374:R230H	.	R	+	2	0	CCDC60	118427297	0.689000	0.27690	0.001000	0.08648	0.008000	0.06430	1.498000	0.35660	0.176000	0.19873	-0.142000	0.14014	CGC		0.527	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
ISLR2	57611	hgsc.bcm.edu	37	15	74425251	74425251	+	Silent	SNP	C	C	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr15:74425251C>T	ENST00000361742.3	+	4	925	c.156C>T	c.(154-156)aaC>aaT	p.N52N	ISLR2_ENST00000565540.1_Silent_p.N52N|ISLR2_ENST00000435464.1_Silent_p.N52N|ISLR2_ENST00000565159.1_Silent_p.N52N|ISLR2_ENST00000453268.2_Silent_p.N52N|ISLR2_ENST00000419208.1_Silent_p.N52N|ISLR2_ENST00000445793.1_Silent_p.N52N|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	52					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N52N(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCCTGCCAACGTGACGACGC	0.637																																					p.N52N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	15						.						83.0	69.0	74.0					15																	74425251		2198	4297	6495	72212304	SO:0001819	synonymous_variant	57611	exon3				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.156C>T	15.37:g.74425251C>T			72212304	NM_020851	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																				0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
EPHA5	2044	hgsc.bcm.edu	37	4	66356225	66356225	+	Silent	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr4:66356225G>A	ENST00000273854.3	-	5	1872	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	EPHA5_ENST00000511294.1_Silent_p.T424T|EPHA5_ENST00000354839.4_Silent_p.T424T|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	424	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.T424T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCATGACAGAGGTGTTTTTCA	0.517										TSP Lung(17;0.13)																											p.T424T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1272T	4						.						132.0	107.0	115.0					4																	66356225		2203	4300	6503	66038820	SO:0001819	synonymous_variant	2044	exon5			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1272C>T	4.37:g.66356225G>A			66038820	NM_004439	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.517	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
AMTN	401138	hgsc.bcm.edu	37	4	71396910	71396910	+	Missense_Mutation	SNP	G	G	A	rs117133443	byFrequency	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr4:71396910G>A	ENST00000339336.4	+	8	642	c.512G>A	c.(511-513)cGc>cAc	p.R171H	AMTN_ENST00000504451.1_Missense_Mutation_p.R170H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	171					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)		p.R171H(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCAGCAGGCCGCCTCCCAACT	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		17315	0.002		0.0	False		,,,				2504	0.0				p.R171H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512A	4						.	G	HIS/ARG	0,4406		0,0,2203	56.0	50.0	52.0		512	2.0	0.0	4	dbSNP_133	52	2,8598	3.0+/-9.4	0,2,4298	yes	missense	AMTN	NM_212557.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	171/210	71396910	2,13004	2203	4300	6503	71431499	SO:0001583	missense	401138	exon8			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.512G>A	4.37:g.71396910G>A	ENSP00000341013:p.Arg171His		71431499	NM_212557	Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	CCDS3542.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	0.625	-0.819742	0.02776	0.0	2.33E-4	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30182	1.54;1.54	5.76	2.01	0.26516	.	0.868082	0.10250	N	0.697265	T	0.09818	0.0241	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34725	-0.9817	10	0.14656	T	0.56	0.0479	1.7516	0.02973	0.5309:0.2231:0.1011:0.145	.	170;171	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	171;170	ENSP00000341013:R171H;ENSP00000422452:R170H	ENSP00000341013:R171H	R	+	2	0	AMTN	71431499	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	0.854000	0.27791	0.163000	0.19507	-0.474000	0.04947	CGC		0.597	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	
SH3RF1	57630	hgsc.bcm.edu	37	4	170017730	170017730	+	Silent	SNP	G	G	T			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr4:170017730G>T	ENST00000284637.9	-	12	2948	c.2607C>A	c.(2605-2607)ggC>ggA	p.G869G		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	869	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G869G(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTTGTAATGTGCCTTTGAACC	0.413																																					p.G869G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2607A	4						.						193.0	178.0	183.0					4																	170017730		2203	4300	6503	170254305	SO:0001819	synonymous_variant	57630	exon12			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2607C>A	4.37:g.170017730G>T			170254305	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	CCDS34099.1																																																																																				0.413	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
UTP14A	10813	hgsc.bcm.edu	37	X	129045024	129045024	+	Silent	SNP	T	T	C			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chrX:129045024T>C	ENST00000394422.3	+	5	307	c.279T>C	c.(277-279)ccT>ccC	p.P93P	UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Silent_p.P39P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.P93P	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	93					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P93P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGCTTGAGCCTGTTAAAACTT	0.413																																					p.P93P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T279C	X						.						115.0	107.0	110.0					X																	129045024		2203	4300	6503	128872705	SO:0001819	synonymous_variant	10813	exon5			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.279T>C	X.37:g.129045024T>C			128872705	NM_006649	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	CCDS14615.1																																																																																				0.413	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
PDE11A	50940	hgsc.bcm.edu	37	2	178879187	178879187	+	Splice_Site	SNP	C	C	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr2:178879187C>A	ENST00000286063.6	-	2	1230	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	PDE11A_ENST00000358450.4_Splice_Site_p.D55Y|AC011998.1_ENST00000457053.1_RNA	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	305	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.D305Y(1)|p.D55Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AATCGTCGATCCTAAAAATAA	0.388									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.D55Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G163T	2						.						82.0	75.0	77.0					2																	178879187		2203	4300	6503	178587433	SO:0001630	splice_region_variant	50940	exon3	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.913-1G>T	2.37:g.178879187C>A			178587433	NM_001077197	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597355	0.87055	.	.	ENSG00000128655	ENST00000286063;ENST00000358450	T;T	0.74421	-0.84;-0.84	5.47	5.47	0.80525	GAF (2);	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.94807	0.7975	10	0.87932	D	0	.	18.6747	0.91525	0.0:1.0:0.0:0.0	.	55;305	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	Y	305;55	ENSP00000286063:D305Y;ENSP00000351232:D55Y	ENSP00000286063:D305Y	D	-	1	0	PDE11A	178587433	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.776000	0.85560	2.726000	0.93360	0.655000	0.94253	GAT		0.388	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		Missense_Mutation
CASP10	843	hgsc.bcm.edu	37	2	202073987	202073987	+	Missense_Mutation	SNP	C	C	G	rs372719084		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr2:202073987C>G	ENST00000272879.5	+	9	1301	c.1117C>G	c.(1117-1119)Ccc>Gcc	p.P373A	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.P330A|CASP10_ENST00000286186.6_Missense_Mutation_p.P373A|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.P330A|CASP10_ENST00000313728.7_Missense_Mutation_p.P306A	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	373					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.P373A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GGCCCTCATTCCCATTCGGGA	0.522																																					p.P373A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1117G	2						.						145.0	129.0	134.0					2																	202073987		2203	4300	6503	201782232	SO:0001583	missense	843	exon9			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1117C>G	2.37:g.202073987C>G	ENSP00000272879:p.Pro373Ala		201782232	NM_032974	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	7.355	0.623634	0.14193	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.05	-0.353	0.12594	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.818293	0.11477	N	0.560078	T	0.27663	0.0680	M	0.62723	1.935	0.20307	N	0.999915	B;P;P;P;B	0.44776	0.104;0.663;0.843;0.532;0.383	B;B;B;B;B	0.40659	0.108;0.192;0.336;0.175;0.175	T	0.14172	-1.0482	10	0.41790	T	0.15	.	6.4208	0.21742	0.0:0.3898:0.2407:0.3695	.	306;330;373;330;373	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	A	373;373;330;306;330	ENSP00000286186:P373A;ENSP00000272879:P373A;ENSP00000237865:P330A;ENSP00000314599:P306A;ENSP00000396835:P330A	ENSP00000272879:P373A	P	+	1	0	CASP10	201782232	0.000000	0.05858	0.007000	0.13788	0.077000	0.17291	-0.571000	0.05889	-0.011000	0.14247	-0.172000	0.13284	CCC		0.522	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
ADAM23	8745	hgsc.bcm.edu	37	2	207422164	207422164	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr2:207422164G>A	ENST00000264377.3	+	10	1275	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R316H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R316H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)	p.R316H(1)		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)		AAGAAGCATCGCTCTTCTCAT	0.378																																					p.R316H	Melanoma(194;1127 2130 19620 24042 27855)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947A	2						.						237.0	217.0	224.0					2																	207422164		2203	4300	6503	207130409	SO:0001583	missense	8745	exon10			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.947G>A	2.37:g.207422164G>A	ENSP00000264377:p.Arg316His		207130409	NM_003812	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514881	0.85389	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09817	2.94;2.94;2.94	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000009	T	0.26011	0.0634	L	0.35644	1.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.00166	-1.1965	10	0.44086	T	0.13	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	316	O75077	ADA23_HUMAN	H	316;316;210;316	ENSP00000264377:R316H;ENSP00000363537:R316H;ENSP00000363536:R316H	ENSP00000264377:R316H	R	+	2	0	ADAM23	207130409	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.497000	0.66924	2.756000	0.94617	0.655000	0.94253	CGC		0.378	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
PCDH20	64881	hgsc.bcm.edu	37	13	61987743	61987743	+	Silent	SNP	G	G	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr13:61987743G>A	ENST00000409186.1	-	5	2594	c.489C>T	c.(487-489)agC>agT	p.S163S	PCDH20_ENST00000409204.4_Silent_p.S163S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S136S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAACGCTGCCGCTCCACGCAG	0.562																																					p.S163S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	13						.						78.0	60.0	66.0					13																	61987743		2203	4300	6503	60885744	SO:0001819	synonymous_variant	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.489C>T	13.37:g.61987743G>A			60885744	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.562	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
ABLIM1	3983	hgsc.bcm.edu	37	10	116335227	116335227	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr10:116335227T>A	ENST00000277895.5	-	3	608	c.511A>T	c.(511-513)Act>Tct	p.T171S	ABLIM1_ENST00000369252.4_Missense_Mutation_p.T111S|ABLIM1_ENST00000533213.2_Missense_Mutation_p.T111S	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	171	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.T111S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCCAGAGCAGTCACCACTTCG	0.522																																					p.T171S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511T	10						.						144.0	114.0	125.0					10																	116335227		2203	4300	6503	116325217	SO:0001583	missense	3983	exon3			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.511A>T	10.37:g.116335227T>A	ENSP00000277895:p.Thr171Ser		116325217	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	T	8.189	0.795495	0.16327	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	D;D;D	0.88201	-2.35;-2.35;-2.35	5.7	5.7	0.88788	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	N	0.11756	0.17	0.80722	D	1	B;D;P;B;B;B	0.63880	0.379;0.993;0.861;0.197;0.201;0.081	B;D;P;B;P;B	0.69479	0.444;0.964;0.678;0.089;0.479;0.036	T	0.81482	-0.0913	10	0.02654	T	1	.	11.0931	0.48128	0.1381:0.0:0.0:0.8619	.	95;111;111;171;111;95	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.;.;.;ABLM1_HUMAN;.;.	S	171;111;111;111;171;95;95;95;171	ENSP00000358256:T111S;ENSP00000433629:T111S;ENSP00000277895:T171S	ENSP00000277895:T171S	T	-	1	0	ABLIM1	116325217	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.022000	0.64078	2.163000	0.67991	0.533000	0.62120	ACT		0.522	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
SLIT3	6586	hgsc.bcm.edu	37	5	168180902	168180902	+	Missense_Mutation	SNP	C	C	T	rs201714671		TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3517-01A-01W-0831-10	TCGA-AA-3517-10A-01W-0831-10	g.chr5:168180902C>T	ENST00000519560.1	-	17	2215	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R599H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R599H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	599					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R599H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGGAACACGCGCCCGTGCAC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19330	0.0		0.0	False		,,,				2504	0.0				p.R599H	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1796A	5						.						52.0	49.0	50.0					5																	168180902		2203	4300	6503	168113480	SO:0001583	missense	6586	exon17			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1796G>A	5.37:g.168180902C>T	ENSP00000430333:p.Arg599His		168113480	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	22.6	4.312379	0.81358	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.79845	-1.31;-1.31;-1.31	5.27	5.27	0.74061	.	0.050153	0.85682	D	0.000000	D	0.82440	0.5037	N	0.20401	0.57	0.58432	D	0.999998	D	0.64830	0.994	D	0.62955	0.909	D	0.84866	0.0822	10	0.59425	D	0.04	.	18.9603	0.92676	0.0:1.0:0.0:0.0	.	599	O75094	SLIT3_HUMAN	H	599	ENSP00000430333:R599H;ENSP00000332164:R599H;ENSP00000384890:R599H	ENSP00000332164:R599H	R	-	2	0	SLIT3	168113480	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.999000	0.70665	2.491000	0.84063	0.650000	0.86243	CGC		0.617	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
