#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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	i_type
ABR	29	hgsc.bcm.edu	37	17	909373	909374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-24-1560-01	TCGA-24-1560-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr17:909373_909374insG	ENST00000302538.5	-	23	2672_2673	c.2526_2527insC	c.(2524-2529)cccattfs	p.I843fs	ABR_ENST00000574437.1_Frame_Shift_Ins_p.I797fs|ABR_ENST00000543210.2_Frame_Shift_Ins_p.I294fs|ABR_ENST00000536794.2_Frame_Shift_Ins_p.I625fs|ABR_ENST00000572441.1_Intron|ABR_ENST00000544583.2_Frame_Shift_Ins_p.I797fs|ABR_ENST00000291107.2_Frame_Shift_Ins_p.I806fs	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	843	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I843fs*>18(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGAAGGAAATGGGGGGGTGCT	0.644																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											1	Insertion - Frameshift(1)	ovary(1)	17																																								856124	SO:0001589	frameshift_variant	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2527dupC	17.37:g.909380_909380dupG	ENSP00000303909:p.Ile843fs		856123	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Ins	INS	ENST00000302538.5	37	CCDS10999.1	INS	51	Baylor																																																																																				0.644	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			Frame_Shift_Ins
AGBL5	60509	hgsc.bcm.edu	37	2	27275887	27275887	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr2:27275887C>A	ENST00000360131.4	+	2	220	c.61C>A	c.(61-63)Cac>Aac	p.H21N	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5-AS1_ENST00000444217.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.H21N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	21					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H21N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCTAGCCCACGTGGAGAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	2											85.0	79.0	81.0					2																	27275887		2203	4300	6503	27129391	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.61C>A	2.37:g.27275887C>A	ENSP00000353249:p.His21Asn		27129391	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071389	0.36566	.	.	ENSG00000084693	ENST00000421915;ENST00000453161;ENST00000451003;ENST00000323064;ENST00000360131;ENST00000437006	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.06	5.06	0.68205	.	0.049706	0.85682	D	0.000000	T	0.81664	0.4870	N	0.17082	0.46	0.30727	N	0.747592	D;D;D	0.58970	0.984;0.981;0.981	P;P;P	0.48552	0.53;0.501;0.581	T	0.82030	-0.0659	10	0.51188	T	0.08	-0.136	13.0719	0.59066	0.1607:0.8393:0.0:0.0	.	21;21;21	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	21	ENSP00000395266:H21N;ENSP00000394730:H21N;ENSP00000407584:H21N;ENSP00000323681:H21N;ENSP00000353249:H21N	ENSP00000323681:H21N	H	+	1	0	AGBL5	27129391	0.988000	0.35896	0.998000	0.56505	0.951000	0.60555	2.446000	0.44908	2.342000	0.79632	0.561000	0.74099	CAC		0.587	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		Missense_Mutation
AMOT	154796	hgsc.bcm.edu	37	X	112024317	112024317	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1560-01	TCGA-24-1560-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chrX:112024317T>G	ENST00000524145.1	-	10	2344	c.2270A>C	c.(2269-2271)gAg>gCg	p.E757A	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371958.1_Missense_Mutation_p.E525A|AMOT_ENST00000371962.1_Missense_Mutation_p.E525A|AMOT_ENST00000371959.3_Missense_Mutation_p.E757A|AMOT_ENST00000304758.1_Missense_Mutation_p.E348A			Q4VCS5	AMOT_HUMAN	angiomotin	757					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.E348A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCATCCTTCTCAATAATCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											142.0	132.0	135.0					X																	112024317		2203	4300	6503	111910973	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2270A>C	X.37:g.112024317T>G	ENSP00000429013:p.Glu757Ala		111910973	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	SNP	54	Baylor	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803254	0.90623	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.40225	1.84;1.28;1.52;1.28;1.04	5.69	5.69	0.88448	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.81497	2.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.70447	-0.4869	10	0.59425	D	0.04	-18.8938	14.0042	0.64453	0.0:0.0:0.0:1.0	.	757	Q4VCS5	AMOT_HUMAN	A	348;757;525;757;525	ENSP00000305557:E348A;ENSP00000361027:E757A;ENSP00000361030:E525A;ENSP00000429013:E757A;ENSP00000361026:E525A	ENSP00000305557:E348A	E	-	2	0	AMOT	111910973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.021000	0.88750	1.904000	0.55121	0.486000	0.48141	GAG		0.537	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		Missense_Mutation
ARHGEF17	9828	hgsc.bcm.edu	37	11	73076590	73076590	+	Silent	SNP	C	C	T	rs61749197	byFrequency	TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr11:73076590C>T	ENST00000263674.3	+	19	6056	c.5706C>T	c.(5704-5706)ccC>ccT	p.P1902P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1902					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1902P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCACTCCTCCCGTGCACAGGA	0.577													C|||	162	0.0323482	0.0068	0.0418	5008	,	,		22002	0.003		0.0924	False		,,,				2504	0.0286															1	Substitution - coding silent(1)	large_intestine(1)	11						C		81,4319	70.3+/-108.2	0,81,2119	140.0	107.0	118.0		5706	-11.6	0.5	11	dbSNP_129	118	788,7798	184.9+/-232.8	36,716,3541	no	coding-synonymous	ARHGEF17	NM_014786.3		36,797,5660	TT,TC,CC		9.1777,1.8409,6.6918		1902/2064	73076590	869,12117	2200	4293	6493	72754238	SO:0001819	synonymous_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5706C>T	11.37:g.73076590C>T			72754238	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1	SNP	23	Baylor																																																																																				0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		Silent
ATP9B	374868	hgsc.bcm.edu	37	18	77097312	77097312	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr18:77097312G>A	ENST00000426216.2	+	19	2163	c.2146G>A	c.(2146-2148)Gac>Aac	p.D716N	ATP9B_ENST00000543761.1_Missense_Mutation_p.D37N|ATP9B_ENST00000307671.7_Missense_Mutation_p.D716N|RP11-800A18.4_ENST00000592906.1_RNA	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	716					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D716N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAGCATGCACGACAGGTCCCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	18											127.0	100.0	109.0					18																	77097312		2203	4300	6503	75198300	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2146G>A	18.37:g.77097312G>A	ENSP00000398076:p.Asp716Asn		75198300	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916049	0.52546	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;T	0.81659	-1.52;-1.52;-0.9	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	L	0.46567	1.45	0.80722	D	1	B;D;D	0.60160	0.036;0.987;0.984	B;P;P	0.53224	0.022;0.721;0.599	T	0.76908	-0.2785	10	0.10636	T	0.68	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	37;716;716	F5H8J1;O43861;O43861-2	.;ATP9B_HUMAN;.	N	716;716;37	ENSP00000398076:D716N;ENSP00000304500:D716N;ENSP00000442015:D37N	ENSP00000304500:D716N	D	+	1	0	ATP9B	75198300	1.000000	0.71417	0.431000	0.26735	0.028000	0.11728	9.113000	0.94321	2.512000	0.84698	0.655000	0.94253	GAC		0.637	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		Missense_Mutation
BACH2	60468	hgsc.bcm.edu	37	6	90718452	90718452	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr6:90718452C>T	ENST00000257749.4	-	6	819	c.112G>A	c.(112-114)Gac>Aac	p.D38N	BACH2_ENST00000537989.1_Missense_Mutation_p.D38N|BACH2_ENST00000343122.3_Missense_Mutation_p.D38N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	38	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.D38N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AAAGTCACGTCACAGAGAATA	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											164.0	154.0	157.0					6																	90718452		2203	4300	6503	90775173	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.112G>A	6.37:g.90718452C>T	ENSP00000257749:p.Asp38Asn		90775173	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	SNP	29	Baylor	.	.	.	.	.	.	.	.	.	.	C	34	5.357905	0.95854	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.098489	0.64402	D	0.000002	D	0.89763	0.6809	H	0.99555	4.625	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.94194	0.7444	10	0.87932	D	0	-0.3623	19.0228	0.92921	0.0:1.0:0.0:0.0	.	38	Q9BYV9	BACH2_HUMAN	N	38	ENSP00000257749:D38N;ENSP00000437473:D38N;ENSP00000345642:D38N;ENSP00000384145:D38N;ENSP00000397668:D38N	ENSP00000257749:D38N	D	-	1	0	BACH2	90775173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.507000	0.84556	0.591000	0.81541	GAC		0.542	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		Missense_Mutation
CDH16	1014	hgsc.bcm.edu	37	16	66943173	66943173	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1560-01	TCGA-24-1560-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr16:66943173T>G	ENST00000299752.4	-	17	2582	c.2389A>C	c.(2389-2391)Ata>Cta	p.I797L	CDH16_ENST00000565796.1_Missense_Mutation_p.I758L|CDH16_ENST00000570262.1_Missense_Mutation_p.I717L|CDH16_ENST00000394055.3_Missense_Mutation_p.I775L|CDH16_ENST00000568632.1_Missense_Mutation_p.I700L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	797					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCATTACCTATTGCTACCAGG	0.602																																																0			16											72.0	59.0	63.0					16																	66943173		2200	4300	6500	65500674	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2389A>C	16.37:g.66943173T>G	ENSP00000299752:p.Ile797Leu		65500674	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	SNP	52	Baylor	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044591	0.75732	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.55760	0.5;0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.72118	2.19	0.58432	D	0.999991	D;D;D	0.67145	0.996;0.985;0.994	D;D;D	0.77557	0.99;0.952;0.978	T	0.73219	-0.4052	10	0.72032	D	0.01	.	12.0321	0.53403	0.0:0.0:0.0:1.0	.	775;797;797	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	L	775;797;761	ENSP00000377619:I775L;ENSP00000299752:I797L	ENSP00000299752:I797L	I	-	1	0	CDH16	65500674	0.998000	0.40836	0.911000	0.35937	0.473000	0.32948	4.313000	0.59160	2.106000	0.64143	0.459000	0.35465	ATA		0.602	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		Missense_Mutation
DDX54	79039	hgsc.bcm.edu	37	12	113600845	113600845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr12:113600845delC	ENST00000306014.5	-	17	2114	c.2087delG	c.(2086-2088)agcfs	p.S696fs	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Frame_Shift_Del_p.S696fs	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	696					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.S696fs*20(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCGCTGATGCTCAGGCTGCA	0.652																																																1	Deletion - Frameshift(1)	ovary(1)	12											49.0	49.0	49.0					12																	113600845		2203	4300	6503	112085228	SO:0001589	frameshift_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2087delG	12.37:g.113600845delC	ENSP00000304072:p.Ser696fs		112085228	Q86YT8|Q9BRZ1	Frame_Shift_Del	DEL	ENST00000306014.5	37	CCDS31907.1	DEL	28	Baylor																																																																																				0.652	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		Frame_Shift_Del
FLG	2312	hgsc.bcm.edu	37	1	152286387	152286387	+	Silent	SNP	C	C	T	rs146115338	byFrequency	TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr1:152286387C>T	ENST00000368799.1	-	3	1010	c.975G>A	c.(973-975)gcG>gcA	p.A325A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	325	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A325A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCTCCCACGCAGATCCAT	0.567									Ichthyosis				-|||	22	0.00439297	0.0	0.0	5008	,	,		18767	0.0179		0.0	False		,,,				2504	0.0041															1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	183.0	187.0	186.0		975	-4.8	0.0	1	dbSNP_134	186	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		325/4062	152286387	1,13005	2203	4300	6503	150553011	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.975G>A	1.37:g.152286387C>T			150553011	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1	SNP	19	Baylor																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		Silent
FRS3	10817	hgsc.bcm.edu	37	6	41740674	41740674	+	Missense_Mutation	SNP	G	G	A	rs373851277		TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr6:41740674G>A	ENST00000373018.3	-	5	528	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	FRS3_ENST00000259748.2_Missense_Mutation_p.R93W	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	93	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.R93W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCAGCCCGGGAACACTTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	6						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	92.0	93.0		277	3.1	1.0	6		93	0,8600		0,0,4300	no	missense	FRS3	NM_006653.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	93/493	41740674	1,13005	2203	4300	6503	41848652	SO:0001583	missense	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.277C>T	6.37:g.41740674G>A	ENSP00000362109:p.Arg93Trp		41848652	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959617	0.74016	2.27E-4	0.0	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290	D;D;D	0.83419	-1.72;-1.72;-1.72	5.25	3.06	0.35304	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89421	0.3710	10	0.87932	D	0	-26.4335	14.0726	0.64870	0.0:0.0:0.3204:0.6796	.	93	O43559	FRS3_HUMAN	W	93;93;117	ENSP00000362109:R93W;ENSP00000259748:R93W;ENSP00000396715:R117W	ENSP00000259748:R93W	R	-	1	2	FRS3	41848652	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	2.539000	0.45718	0.325000	0.23359	0.655000	0.94253	CGG		0.502	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		Missense_Mutation
GABRA6	2559	hgsc.bcm.edu	37	5	161116753	161116753	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr5:161116753C>T	ENST00000274545.5	+	6	1074	c.641C>T	c.(640-642)aCa>aTa	p.T214I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T204I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	214					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T214R(1)|p.T214I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGACAAACAGTATCTAGT	0.363										TCGA Ovarian(5;0.080)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	5											73.0	81.0	78.0					5																	161116753		2203	4300	6503	161049331	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.641C>T	5.37:g.161116753C>T	ENSP00000274545:p.Thr214Ile		161049331	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	SNP	17	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.561380|3.561380	0.65538|0.65538	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.78816	.|-1.21;-1.21;-1.21;-1.21	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.047469	.|0.85682	.|D	.|0.000000	.|D	.|0.85758	.|0.5771	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.71674	.|0.998	.|D	.|0.76575	.|0.988	.|D	.|0.86615	.|0.1875	.|10	.|0.66056	.|D	.|0.02	.|.	14.0794|14.0794	0.64912|0.64912	0.1506:0.8494:0.0:0.0|0.1506:0.8494:0.0:0.0	.|.	.|214	.|Q16445	.|GBRA6_HUMAN	X|I	154|214;204;161;134	.|ENSP00000274545:T214I;ENSP00000430527:T204I;ENSP00000430212:T161I;ENSP00000427989:T134I	.|ENSP00000274545:T214I	Q|T	+|+	1|2	0|0	GABRA6|GABRA6	161049331|161049331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.542000|4.542000	0.60677|0.60677	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.363	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			Missense_Mutation
ITGA2B	3674	hgsc.bcm.edu	37	17	42453451	42453451	+	Splice_Site	SNP	A	A	T			TCGA-24-1560-01	TCGA-24-1560-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr17:42453451A>T	ENST00000262407.5	-	24	2480		c.e24+1		ITGA2B_ENST00000353281.4_Splice_Site	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.?(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GCTCCCCAATACCTCATAGGT	0.627											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	17											106.0	108.0	107.0					17																	42453451		2203	4300	6503	39808977	SO:0001630	splice_region_variant	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2448+1T>A	17.37:g.42453451A>T		908	39808977	B2RCY8|O95366|Q14443|Q17R67	Splice_Site_SNP	SNP	ENST00000262407.5	37	CCDS32665.1	SNP	14	Baylor	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808242	0.50421	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3758	0.38281	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA2B	39808977	1.000000	0.71417	0.935000	0.37517	0.523000	0.34469	5.813000	0.69201	1.789000	0.52484	0.459000	0.35465	.		0.627	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Intron	Splice_Site_SNP
CCAR2	57805	hgsc.bcm.edu	37	8	22475864	22475864	+	Silent	SNP	C	C	G			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr8:22475864C>G	ENST00000308511.4	+	17	2325	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	CCAR2_ENST00000389279.3_Silent_p.P692P|CCAR2_ENST00000520861.1_Silent_p.P367P|BIN3_ENST00000519335.1_5'Flank|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	692					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.P692P(1)									CTTTGCAGCCCAAGGAGCTGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	8											191.0	177.0	182.0					8																	22475864		2203	4300	6503	22531809	SO:0001819	synonymous_variant	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2076C>G	8.37:g.22475864C>G			22531809	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703446	0.30232	.	.	ENSG00000158941	ENST00000520738	T	0.28895	1.59	6.0	2.08	0.27032	.	0.158680	0.46442	D	0.000293	T	0.22003	0.0530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08207	-1.0733	7	0.21540	T	0.41	-20.6489	2.4727	0.04568	0.1536:0.5321:0.1486:0.1657	.	.	.	.	R	384	ENSP00000428549:P384R	ENSP00000428549:P384R	P	+	2	0	KIAA1967	22531809	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.727000	0.25999	0.095000	0.17434	-0.126000	0.14955	CCA		0.522	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		Silent
LRRC47	57470	hgsc.bcm.edu	37	1	3697735	3697735	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr1:3697735C>A	ENST00000378251.1	-	7	1696	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	557							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.D557Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTTCCAGATCCACCACCCGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											75.0	77.0	76.0					1																	3697735		2203	4300	6503	3687595	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1669G>T	1.37:g.3697735C>A	ENSP00000367498:p.Asp557Tyr		3687595	Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	CCDS51.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670867	0.88348	.	.	ENSG00000130764	ENST00000378251	T	0.60548	0.18	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76394	-0.2975	10	0.87932	D	0	-55.8442	17.3879	0.87422	0.0:1.0:0.0:0.0	.	557	Q8N1G4	LRC47_HUMAN	Y	557	ENSP00000367498:D557Y	ENSP00000367498:D557Y	D	-	1	0	LRRC47	3687595	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.156000	0.77453	2.348000	0.79779	0.591000	0.81541	GAT		0.647	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		Missense_Mutation
MGAT4C	25834	hgsc.bcm.edu	37	12	86373822	86373822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr12:86373822G>A	ENST00000604798.1	-	8	1886	c.682C>T	c.(682-684)Cga>Tga	p.R228*	MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.R257*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	228					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R228*(2)|p.R228>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTGAACATCGAACATCATCT	0.348																																																3	Substitution - Nonsense(2)|Complex(1)	large_intestine(2)|ovary(1)	12											80.0	77.0	78.0					12																	86373822		2203	4300	6503	84897953	SO:0001587	stop_gained	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.682C>T	12.37:g.86373822G>A	ENSP00000474896:p.Arg228*		84897953	B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592725	0.28357	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	.	.	.	5.79	4.9	0.64082	.	0.071536	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.5256	13.9972	0.64409	0.0:0.0:0.7246:0.2754	.	.	.	.	X	228;257;228;228;228;228;228	.	ENSP00000331664:R228X	R	-	1	2	MGAT4C	84897953	1.000000	0.71417	0.093000	0.20910	0.004000	0.04260	4.667000	0.61561	1.428000	0.47296	-0.169000	0.13324	CGA		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		Nonsense_Mutation
NLRC4	58484	hgsc.bcm.edu	37	2	32475576	32475576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr2:32475576G>A	ENST00000404025.2	-	5	1845	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R453*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R453*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	453	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.R453*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGAGTCTTCGTCCTGCTGTG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											81.0	82.0	82.0					2																	32475576		2203	4300	6503	32329080	SO:0001587	stop_gained	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1357C>T	2.37:g.32475576G>A	ENSP00000385090:p.Arg453*		32329080	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	37	6.288666	0.97444	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	2.93	0.016	0.14106	.	0.000000	0.39615	N	0.001319	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	2.6863	0.05108	0.3663:0.0:0.316:0.3178	.	.	.	.	X	453	.	ENSP00000354159:R453X	R	-	1	2	NLRC4	32329080	0.052000	0.20516	0.962000	0.40283	0.987000	0.75469	0.242000	0.18087	0.133000	0.18654	0.430000	0.28490	CGA		0.448	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		Nonsense_Mutation
NLRP8	126205	hgsc.bcm.edu	37	19	56466195	56466195	+	Silent	SNP	C	C	T	rs139408819		TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr19:56466195C>T	ENST00000291971.3	+	3	842	c.771C>T	c.(769-771)tcC>tcT	p.S257S	NLRP8_ENST00000590542.1_Silent_p.S257S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	257	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S257S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGCTTCTCCGAGCTGATTG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	19						C		0,4406		0,0,2203	156.0	153.0	154.0		771	-4.1	0.0	19	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		257/1049	56466195	1,13005	2203	4300	6503	61158007	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.771C>T	19.37:g.56466195C>T			61158007	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1	SNP	23	Baylor																																																																																				0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		Silent
NRBP1	29959	hgsc.bcm.edu	37	2	27662705	27662705	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr2:27662705G>C	ENST00000233557.3	+	12	1808	c.976G>C	c.(976-978)Gca>Cca	p.A326P	KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.A334P|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.A326P			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.A326P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTTCCACCCAGCATTGTTTGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	2											126.0	126.0	126.0					2																	27662705		2203	4300	6503	27516209	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.976G>C	2.37:g.27662705G>C	ENSP00000233557:p.Ala326Pro		27516209	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	35	5.515442	0.96402	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.74002	-0.8;-0.8;-0.8	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	L	0.42245	1.32	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.67725	0.95;0.921;0.953	T	0.82983	-0.0186	10	0.66056	D	0.02	-12.9107	18.0038	0.89204	0.0:0.0:1.0:0.0	.	306;334;326	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	P	326;306;326;334	ENSP00000233557:A326P;ENSP00000369181:A326P;ENSP00000369192:A334P	ENSP00000233557:A326P	A	+	1	0	NRBP1	27516209	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.610000	0.88304	0.655000	0.94253	GCA		0.517	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		Missense_Mutation
NUP210	23225	hgsc.bcm.edu	37	3	13359231	13359231	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1560-01	TCGA-24-1560-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr3:13359231T>A	ENST00000254508.5	-	40	5696	c.5614A>T	c.(5614-5616)Aaa>Taa	p.K1872*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1872					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.K1872*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGGCTGGCTTTGCGAGCAGGA	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	3											89.0	84.0	86.0					3																	13359231		2203	4300	6503	13334231	SO:0001587	stop_gained	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5614A>T	3.37:g.13359231T>A	ENSP00000254508:p.Lys1872*		13334231	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	SNP	63	Baylor	.	.	.	.	.	.	.	.	.	.	T	45	11.701740	0.99592	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.51	3.04	0.35103	.	0.512077	0.20760	N	0.086182	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9906	9.8267	0.40916	0.0:0.0:0.3346:0.6654	.	.	.	.	X	1872	.	ENSP00000254508:K1872X	K	-	1	0	NUP210	13334231	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	0.846000	0.27682	0.357000	0.24183	0.533000	0.62120	AAA		0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		Nonsense_Mutation
CDHR1	92211	hgsc.bcm.edu	37	10	85972942	85972942	+	Silent	SNP	G	G	A	rs369628724		TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr10:85972942G>A	ENST00000372117.3	+	16	1981	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	CDHR1_ENST00000440770.2_Silent_p.T330T|CDHR1_ENST00000332904.3_Silent_p.T626T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.T626T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCCCACACGGGGGAGATCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	10											118.0	105.0	109.0					10																	85972942		2203	4300	6503	85962922	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1878G>A	10.37:g.85972942G>A			85962922	Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	CCDS7372.1	SNP	39	Baylor																																																																																				0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		Silent
PCDHB15	56121	hgsc.bcm.edu	37	5	140626304	140626304	+	Silent	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr5:140626304G>A	ENST00000231173.3	+	1	1158	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q386Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAATTCAGGATGATGTTC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5											76.0	75.0	75.0					5																	140626304		2203	4300	6503	140606488	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1158G>A	5.37:g.140626304G>A			140606488	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1	SNP	35	Baylor																																																																																				0.463	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		Silent
PHF12	57649	hgsc.bcm.edu	37	17	27244452	27244452	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1560-01	TCGA-24-1560-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr17:27244452T>C	ENST00000332830.4	-	7	1795	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.M329V|PHF12_ENST00000268756.3_Missense_Mutation_p.M329V	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.M329V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCAGTGTCATATTCTTCTGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											68.0	57.0	61.0					17																	27244452		2203	4300	6503	24268578	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.985A>G	17.37:g.27244452T>C	ENSP00000329933:p.Met329Val		24268578		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	SNP	49	Baylor	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848947	0.17034	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	T;T;T	0.28666	1.6;1.6;1.6	5.88	4.79	0.61399	.	0.128170	0.64402	D	0.000001	T	0.20088	0.0483	L	0.29908	0.895	0.35688	D	0.814635	B;B;B;B;B	0.12013	0.002;0.005;0.002;0.004;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.17107	-1.0380	10	0.25106	T	0.35	-9.5181	7.8325	0.29351	0.1332:0.0:0.1477:0.719	.	311;329;329;329;329	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	V	329	ENSP00000329933:M329V;ENSP00000368157:M329V;ENSP00000268756:M329V	ENSP00000268756:M329V	M	-	1	0	PHF12	24268578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.742000	0.47434	1.036000	0.39998	0.533000	0.62120	ATG		0.488	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		Missense_Mutation
PRDM14	63978	hgsc.bcm.edu	37	8	70967604	70967604	+	Silent	SNP	A	A	G			TCGA-24-1560-01	TCGA-24-1560-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr8:70967604A>G	ENST00000276594.2	-	7	1620	c.1419T>C	c.(1417-1419)tcT>tcC	p.S473S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	473					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S473S(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTAGGCTGGAAGATTGAGAGA	0.403																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - coding silent(1)	ovary(1)	8											172.0	146.0	155.0					8																	70967604		2203	4300	6503	71130158	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1419T>C	8.37:g.70967604A>G			71130158	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1	SNP	3	Baylor																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			Silent
RBBP6	5930	hgsc.bcm.edu	37	16	24578491	24578491	+	Silent	SNP	C	C	T	rs138070460		TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr16:24578491C>T	ENST00000319715.4	+	15	2049	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	RBBP6_ENST00000348022.2_Silent_p.S539S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	539					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S539S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACACCACAGCGAAAGATCAC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18922	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	16						C	,	1,4393	2.1+/-5.4	0,1,2196	139.0	131.0	134.0		1617,1617	2.2	1.0	16	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RBBP6	NM_006910.4,NM_018703.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	539/1793,539/1759	24578491	1,12993	2197	4300	6497	24485992	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1617C>T	16.37:g.24578491C>T			24485992	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1	SNP	27	Baylor																																																																																				0.448	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		Silent
RHBDF2	79651	hgsc.bcm.edu	37	17	74469136	74469136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr17:74469136delC	ENST00000313080.4	-	17	2221	c.1948delG	c.(1948-1950)gtcfs	p.V650fs	RHBDF2_ENST00000591885.1_Frame_Shift_Del_p.V621fs|RHBDF2_ENST00000389760.4_Frame_Shift_Del_p.V621fs	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	650					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V650fs*29(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGATCTGGGACCTCAGGGTTG	0.612																																																1	Deletion - Frameshift(1)	ovary(1)	17											75.0	71.0	73.0					17																	74469136		2203	4300	6503	71980731	SO:0001589	frameshift_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1948delG	17.37:g.74469136delC	ENSP00000322775:p.Val650fs		71980731	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Frame_Shift_Del	DEL	ENST00000313080.4	37	CCDS32743.1	DEL	18	Baylor																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		Frame_Shift_Del
ROR2	4920	hgsc.bcm.edu	37	9	94486260	94486260	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr9:94486260G>A	ENST00000375708.3	-	9	2714	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	839	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P839L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATCTGCACCGGGTAGAAGTT	0.667																																																1	Substitution - Missense(1)	ovary(1)	9											72.0	79.0	76.0					9																	94486260		2203	4300	6503	93526081	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2516C>T	9.37:g.94486260G>A	ENSP00000364860:p.Pro839Leu		93526081	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447673	0.43429	.	.	ENSG00000169071	ENST00000375708	T	0.78481	-1.18	4.73	4.73	0.59995	.	0.175018	0.27433	N	0.019393	T	0.73194	0.3556	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.48454	0.578	T	0.77830	-0.2442	10	0.59425	D	0.04	.	17.9241	0.88977	0.0:0.0:1.0:0.0	.	839	Q01974	ROR2_HUMAN	L	839	ENSP00000364860:P839L	ENSP00000364860:P839L	P	-	2	0	ROR2	93526081	1.000000	0.71417	0.943000	0.38184	0.226000	0.24999	5.120000	0.64685	2.456000	0.83038	0.462000	0.41574	CCG		0.667	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			Missense_Mutation
SLC6A5	9152	hgsc.bcm.edu	37	11	20625937	20625937	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1560-01	TCGA-24-1560-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr11:20625937A>T	ENST00000525748.1	+	3	919	c.646A>T	c.(646-648)Agg>Tgg	p.R216W		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R216W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAATGTCTGGAGGTTTCCCTA	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											126.0	122.0	123.0					11																	20625937		2203	4300	6503	20582513	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.646A>T	11.37:g.20625937A>T	ENSP00000434364:p.Arg216Trp		20582513	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533272	0.85812	.	.	ENSG00000165970	ENST00000525748	D	0.84442	-1.85	4.63	3.41	0.39046	.	0.046947	0.85682	D	0.000000	D	0.94591	0.8257	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95199	0.8315	10	0.87932	D	0	.	10.8508	0.46769	0.8421:0.1579:0.0:0.0	.	216	Q9Y345	SC6A5_HUMAN	W	216	ENSP00000434364:R216W	ENSP00000434364:R216W	R	+	1	2	SLC6A5	20582513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.073000	0.64395	1.860000	0.53959	0.379000	0.24179	AGG		0.632	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		Missense_Mutation
STAT6	6778	hgsc.bcm.edu	37	12	57496677	57496677	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr12:57496677C>G	ENST00000300134.3	-	12	1565	c.1240G>C	c.(1240-1242)Gtc>Ctc	p.V414L	STAT6_ENST00000454075.3_Missense_Mutation_p.V414L|STAT6_ENST00000543873.2_Missense_Mutation_p.V414L|STAT6_ENST00000556155.1_Missense_Mutation_p.V414L|STAT6_ENST00000537215.2_Missense_Mutation_p.V304L|STAT6_ENST00000538913.2_Missense_Mutation_p.V304L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	414					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V414L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TTGCCATGGACGATGACCACC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											128.0	107.0	114.0					12																	57496677		2203	4300	6503	55782944	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1240G>C	12.37:g.57496677C>G	ENSP00000300134:p.Val414Leu		55782944	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	SNP	19	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.267435|5.267435	0.95399|0.95399	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.44|5.44	5.44|5.44	0.79542|0.79542	.|STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90342|0.90342	0.6978|0.6978	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.997;0.998	D|D	0.91181|0.91181	0.4976|0.4976	5|10	.|0.87932	.|D	.|0	-28.1822|-28.1822	16.7916|16.7916	0.85590|0.85590	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;414	.|A8K4S9;P42226	.|.;STAT6_HUMAN	P|L	114|414;304;304;414;414;304;414;304;414	.|ENSP00000300134:V414L;ENSP00000445409:V304L;ENSP00000438451:V414L;ENSP00000451742:V414L;ENSP00000444530:V304L;ENSP00000401486:V414L	.|ENSP00000300134:V414L	R|V	-|-	2|1	0|0	STAT6|STAT6	55782944|55782944	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	4.670000|4.670000	0.61583|0.61583	2.833000|2.833000	0.97629|0.97629	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.458	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		Missense_Mutation
THBS3	7059	hgsc.bcm.edu	37	1	155167871	155167871	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr1:155167871C>G	ENST00000368378.3	-	18	2235	c.2215G>C	c.(2215-2217)Gat>Cat	p.D739H	THBS3_ENST00000541990.1_Missense_Mutation_p.D268H|THBS3_ENST00000541576.1_Missense_Mutation_p.D136H|RP11-263K19.4_ENST00000430312.1_RNA|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D619H|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	739	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D739H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCTGAGCATCACCCTCAGGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											123.0	103.0	110.0					1																	155167871		2203	4300	6503	153434495	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2215G>C	1.37:g.155167871C>G	ENSP00000357362:p.Asp739His		153434495	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	SNP	29	Baylor	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059571	0.76074	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.922;0.981;0.932;0.981	D	0.95444	0.8528	10	0.87932	D	0	-19.0798	15.9977	0.80265	0.0:1.0:0.0:0.0	.	619;739;739;739	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	739;136;619;268	ENSP00000357362:D739H;ENSP00000444792:D136H;ENSP00000392207:D619H;ENSP00000437353:D268H	ENSP00000357362:D739H	D	-	1	0	THBS3	153434495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.639000	0.89480	0.563000	0.77884	GAT		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-24-1560-01	TCGA-24-1560-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000420246.2_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147.0	111.0	123.0					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys		7518276	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	SNP	22	Baylor	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
WRNIP1	56897	hgsc.bcm.edu	37	6	2784566	2784566	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01	TCGA-24-1560-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1560-01	TCGA-24-1560-10	g.chr6:2784566G>A	ENST00000380773.4	+	6	1860	c.1651G>A	c.(1651-1653)Gac>Aac	p.D551N	WRNIP1_ENST00000380771.4_Missense_Mutation_p.D526N|WRNIP1_ENST00000380769.4_Missense_Mutation_p.D331N|WRNIP1_ENST00000380764.1_Missense_Mutation_p.D167N	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1									p.D551N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGTCTGGCAGACCCGTCTGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											112.0	88.0	96.0					6																	2784566		2203	4300	6503	2729565	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1651G>A	6.37:g.2784566G>A	ENSP00000370150:p.Asp551Asn		2729565		Missense_Mutation	SNP	ENST00000380773.4	37	CCDS4475.1	SNP	33	Baylor	.	.	.	.	.	.	.	.	.	.	G	35	5.425165	0.96131	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.55413	0.52;0.66;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.56492	-0.7970	10	0.33141	T	0.24	-10.3159	18.5466	0.91048	0.0:0.0:1.0:0.0	.	526;551	Q96S55-2;Q96S55	.;WRIP1_HUMAN	N	551;526;331;167	ENSP00000370150:D551N;ENSP00000370148:D526N;ENSP00000370146:D331N	ENSP00000370141:D167N	D	+	1	0	WRNIP1	2729565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.252000	0.95491	2.610000	0.88304	0.563000	0.77884	GAC		0.502	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		Missense_Mutation
