#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
GPR101	83550	genome.wustl.edu	37	X	136113704	136113704	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chrX:136113704C>T	ENST00000298110.1	-	1	129	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACGAAAGAGGCGGCGAGGAAG	0.582																																						dbGAP											0			X											81.0	68.0	73.0					X																	136113704		2203	4300	6503	135941370	SO:0001583	missense	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.130G>A	X.37:g.136113704C>T	ENSP00000298110:p.Ala44Thr	497	6.72	36		NA	NA	NA	135941370	53	41.30	38	Q5JSM8|Q8NG93	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.A44T	ENST00000298110.1	37	c.130	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	1.868	-0.461026	0.04508	.	.	ENSG00000165370	ENST00000298110	T	0.37235	1.21	5.09	3.2	0.36748	.	.	.	.	.	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.12156	0.007	T	0.15350	-1.0440	9	0.62326	D	0.03	-5.1665	4.8663	0.13609	0.3375:0.5567:0.0:0.1058	.	44	Q96P66	GP101_HUMAN	T	44	ENSP00000298110:A44T	ENSP00000298110:A44T	A	-	1	0	GPR101	135941370	0.005000	0.15991	0.003000	0.11579	0.006000	0.05464	0.562000	0.23531	0.930000	0.37217	0.544000	0.68410	GCC	-	superfamily_Family A G protein-coupled receptor-like		0.582	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	protein_coding	OTTHUMT00000058519.1	C			135941370	-1	no_errors	NM_054021.1	genbank	human	provisional	54_36p	missense	SNP	0.001	T
NRAS	4893	genome.wustl.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206.0	184.0	191.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1.0	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp	207	0.48	1		43	18.18	10	115060270	266	11.55	35	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000369535.4	37	c.35	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060270	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TRIM45	80263	genome.wustl.edu	37	1	117663343	117663343	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:117663343C>T	ENST00000256649.4	-	1	1007	c.481G>A	c.(481-483)Gct>Act	p.A161T	TRIM45_ENST00000369461.3_Missense_Mutation_p.A104T|TRIM45_ENST00000369464.3_Missense_Mutation_p.A161T	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	161					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TACCTATGAGCCTGGCAGCAG	0.522																																						dbGAP											0			1											95.0	90.0	92.0					1																	117663343		2203	4300	6503	117464866	SO:0001583	missense	0				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.481G>A	1.37:g.117663343C>T	ENSP00000256649:p.Ala161Thr	195	7.58	16		7	36.36	4	117464866	232	43.44	182	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00557,HMMSmart_SM00184,HMMSmart_SM00502,superfamily_E set domains,HMMPfam_Filamin,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.A161T	ENST00000256649.4	37	c.481	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.114803	0.94339	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.41065	1.01;1.01;1.01	5.0	5.0	0.66597	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57236	-0.7846	10	0.46703	T	0.11	-15.3836	17.4617	0.87621	0.0:1.0:0.0:0.0	.	161;161	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	T	161;161;104	ENSP00000256649:A161T;ENSP00000358476:A161T;ENSP00000358473:A104T	ENSP00000256649:A161T	A	-	1	0	TRIM45	117464866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.119000	0.64679	2.579000	0.87056	0.561000	0.74099	GCT	-	HMMPfam_zf-B_box,HMMSmart_SM00336		0.522	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	protein_coding	OTTHUMT00000033503.1	C	NM_025188		117464866	-1	no_errors	NM_025188.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ADCY10	55811	genome.wustl.edu	37	1	167873180	167873180	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:167873180T>A	ENST00000367851.4	-	3	382	c.198A>T	c.(196-198)agA>agT	p.R66S	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	66	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCTCAGCCCCTCTGTCCATGT	0.453																																						dbGAP											0			1											161.0	144.0	150.0					1																	167873180		2203	4300	6503	166139804	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.198A>T	1.37:g.167873180T>A	ENSP00000356825:p.Arg66Ser	236	6.35	16		NA	NA	NA	166139804	158	40.07	109	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain,superfamily_TPR-like	p.R66S	ENST00000367851.4	37	c.198	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067618	0.55539	.	.	ENSG00000143199	ENST00000367851	T	0.32753	1.44	5.72	-1.24	0.09435	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.52532	D	0.000065	T	0.11281	0.0275	L	0.29908	0.895	0.34201	D	0.673135	D	0.52996	0.957	P	0.53861	0.736	T	0.08994	-1.0695	9	0.35671	T	0.21	-10.6806	1.4843	0.02444	0.2626:0.0805:0.2309:0.426	.	66	Q96PN6	ADCYA_HUMAN	S	66	ENSP00000356825:R66S	ENSP00000356825:R66S	R	-	3	2	ADCY10	166139804	0.981000	0.34729	0.997000	0.53966	0.824000	0.46624	-0.178000	0.09782	-0.144000	0.11314	-0.250000	0.11733	AGA	-	HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain		0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	T	NM_018417		166139804	-1	no_errors	NM_018417.3	genbank	human	validated	54_36p	missense	SNP	1.000	A
FAT1	2195	genome.wustl.edu	37	4	187584737	187584737	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr4:187584737C>G	ENST00000441802.2	-	3	3505	c.3296G>C	c.(3295-3297)cGt>cCt	p.R1099P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1099	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTCGATTCACGGTCCAGTCG	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0			4											72.0	69.0	70.0					4																	187584737		1978	4171	6149	187821731	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3296G>C	4.37:g.187584737C>G	ENSP00000406229:p.Arg1099Pro	119	6.30	8		NA	NA	NA	187821731	108	39.11	70		Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R1099P	ENST00000441802.2	37	c.3296	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.368962	0.82463	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.59906	0.23	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	0.051954	0.85682	D	0.000000	D	0.85296	0.5664	H	0.97983	4.12	0.53688	D	0.999977	D	0.76494	0.999	D	0.74023	0.982	D	0.90705	0.4623	10	0.72032	D	0.01	.	18.6382	0.91385	0.0:1.0:0.0:0.0	.	1099	Q14517	FAT1_HUMAN	P	1099	ENSP00000406229:R1099P	ENSP00000260147:R1099P	R	-	2	0	FAT1	187821731	0.993000	0.37304	0.958000	0.39756	0.980000	0.70556	2.855000	0.48333	2.645000	0.89757	0.655000	0.94253	CGT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245		187821731	-1	no_errors	NM_005245.3	genbank	human	reviewed	54_36p	missense	SNP	0.989	G
NUGGC	389643	genome.wustl.edu	37	8	27922211	27922211	+	Missense_Mutation	SNP	C	C	T	rs567570205		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr8:27922211C>T	ENST00000413272.2	-	7	891	c.749G>A	c.(748-750)cGc>cAc	p.R250H	NUGGC_ENST00000341513.6_Missense_Mutation_p.R250H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	250					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCTCTGTGTGCGGATGTAGGG	0.562																																						dbGAP											0			8											71.0	73.0	72.0					8																	27922211		2168	4264	6432	27978130	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.749G>A	8.37:g.27922211C>T	ENSP00000408697:p.Arg250His	176	3.30	6		3	0.00	0	27978130	110	17.91	24	Q6ZP73	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R250H	ENST00000413272.2	37	c.749	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946618	0.53186	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15139	2.45;2.45	5.93	5.06	0.68205	Dynamin, GTPase domain (1);	0.000000	0.56097	D	0.000022	T	0.29524	0.0736	L	0.45228	1.405	0.34132	D	0.665378	D	0.89917	1.0	D	0.67231	0.95	T	0.37033	-0.9723	10	0.30854	T	0.27	-17.9409	11.1964	0.48715	0.0:0.9157:0.0:0.0843	.	250	Q68CJ6	SLIP_HUMAN	H	250	ENSP00000408697:R250H;ENSP00000345031:R250H	ENSP00000345031:R250H	R	-	2	0	C8orf80	27978130	0.979000	0.34478	0.988000	0.46212	0.537000	0.34900	1.515000	0.35845	1.521000	0.48983	0.650000	0.86243	CGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf80	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27978130	-1	no_errors	NM_001010906.1	genbank	human	predicted	54_36p	missense	SNP	0.973	T
GLIS3	169792	genome.wustl.edu	37	9	3828379	3828379	+	Missense_Mutation	SNP	G	G	A	rs76094493	byFrequency	TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr9:3828379G>A	ENST00000324333.10	-	10	2414	c.2221C>T	c.(2221-2223)Ctc>Ttc	p.L741F	GLIS3_ENST00000381971.3_Missense_Mutation_p.L896F|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	741					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCCCAAAGAGGCTCGAGGAA	0.542													g|||	201	0.0401358	0.1437	0.0144	5008	,	,		20882	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			9						G	PHE/LEU,PHE/LEU	539,3867	243.1+/-252.9	29,481,1693	50.0	49.0	49.0		2686,2221	3.9	1.0	9	dbSNP_131	49	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	22,22	29,486,5988	AA,AG,GG		0.0581,12.2333,4.1827	probably-damaging,probably-damaging	896/931,741/776	3828379	544,12462	2203	4300	6503	3818379	SO:0001583	missense	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2221C>T	9.37:g.3828379G>A	ENSP00000325494:p.Leu741Phe	157	5.42	9		NA	NA	NA	3818379	132	39.27	86	B1AL19|Q1PHK5	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L896F	ENST00000324333.10	37	c.2686	CCDS6451.1	9	54	0.024725274725274724	48	0.0975609756097561	6	0.016574585635359115	0	0.0	0	0.0	g	11.64	1.697695	0.30142	0.122333	5.81E-4	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11604	2.79;2.76	5.92	3.88	0.44766	.	0.152154	0.28748	N	0.014274	T	0.00144	0.0004	L	0.27053	0.805	0.31376	N	0.679605	P;P;P	0.49783	0.919;0.928;0.883	P;P;B	0.47573	0.51;0.55;0.299	T	0.12656	-1.0539	10	0.16896	T	0.51	.	11.6478	0.51271	0.0:0.201:0.6324:0.1666	.	336;896;741	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	F	741;896	ENSP00000325494:L741F;ENSP00000371398:L896F	ENSP00000325494:L741F	L	-	1	0	GLIS3	3818379	0.997000	0.39634	0.998000	0.56505	0.128000	0.20619	0.570000	0.23653	1.477000	0.48234	0.650000	0.86243	CTC	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629		3818379	-1	no_errors	NM_001042413.1	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
DSCAML1	57453	genome.wustl.edu	37	11	117301646	117301646	+	Silent	SNP	G	G	A	rs146220477		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr11:117301646G>A	ENST00000321322.6	-	32	5659	c.5658C>T	c.(5656-5658)caC>caT	p.H1886H	DSCAML1_ENST00000527706.1_Silent_p.H1616H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1826					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAAACTTGGCGTGCTGCAGCT	0.567																																						dbGAP											0			11						G		1,4401	2.1+/-5.4	0,1,2200	220.0	190.0	200.0		5658	1.9	1.0	11	dbSNP_134	200	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1886/2114	117301646	1,12993	2201	4296	6497	116806856	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5658C>T	11.37:g.117301646G>A		453	11.52	59		1	0.00	0	116806856	56	47.71	52	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.H1886	ENST00000321322.6	37	c.5658	CCDS8384.1	11																																																																																			-	NULL		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693		116806856	-1	no_errors	NM_020693.2	genbank	human	provisional	54_36p	silent	SNP	1.000	A
GRIK4	2900	genome.wustl.edu	37	11	120702587	120702587	+	Missense_Mutation	SNP	C	C	T	rs556855430		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr11:120702587C>T	ENST00000527524.2	+	7	825	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GRIK4_ENST00000438375.2_Missense_Mutation_p.R180W	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	180					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GAAGCTGCTCCGGCAATTCCT	0.602																																						dbGAP											0			11											71.0	75.0	74.0					11																	120702587		2203	4299	6502	120207797	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.538C>T	11.37:g.120702587C>T	ENSP00000435648:p.Arg180Trp	64	1.54	1		NA	NA	NA	120207797	63	16.88	13	A8K9L1	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850	p.R180W	ENST00000527524.2	37	c.538	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043476	0.75732	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.84442	-1.85;-1.85	4.92	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.053861	0.64402	D	0.000001	D	0.89904	0.6850	M	0.63428	1.95	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	P;P	0.62885	0.87;0.908	D	0.91139	0.4944	10	0.87932	D	0	.	15.8474	0.78903	0.1446:0.8554:0.0:0.0	.	180;180	A6H8K8;Q16099	.;GRIK4_HUMAN	W	180	ENSP00000435648:R180W;ENSP00000404063:R180W	ENSP00000404063:R180W	R	+	1	2	GRIK4	120207797	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.534000	0.85438	0.561000	0.74099	CGG	-	HMMPfam_ANF_receptor,superfamily_SSF53822		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120207797	+1	no_errors	NM_014619.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MDM2	4193	genome.wustl.edu	37	12	69230517	69230517	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr12:69230517A>C	ENST00000350057.5	+	8	813	c.813A>C	c.(811-813)gaA>gaC	p.E271D	MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.E101D|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.E126D|MDM2_ENST00000462284.1_Missense_Mutation_p.E302D|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.E126D|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E241D|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E101D|MDM2_ENST00000258148.7_Missense_Mutation_p.E247D|MDM2_ENST00000544561.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	296	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAGATCCTGAAATTTCCTTAG	0.318			A		"""sarcoma, glioma, colorectal, other"""																																	dbGAP		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0			12											152.0	142.0	145.0					12																	69230517		1823	4076	5899	67516784	SO:0001583	missense	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.813A>C	12.37:g.69230517A>C	ENSP00000266624:p.Glu271Asp	153	0.65	1		25	0.00	0	67516784	236	20.20	60	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1,HMMPfam_SWIB,superfamily_SWIB/MDM2 domain,superfamily_RING/U-box	p.E302D	ENST00000350057.5	37	c.906		12	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332674	0.60853	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000311440;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000393415;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.73	2.22	0.28083	.	0.091732	0.85682	D	0.000000	T	0.46814	0.1412	M	0.63843	1.955	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.998;0.987;0.997;0.955	D;D;D;D;P	0.91635	0.999;0.984;0.911;0.956;0.837	T	0.24048	-1.0171	9	.	.	.	-10.6551	8.2889	0.31946	0.6628:0.0:0.3372:0.0	.	251;296;247;101;302	Q00987-9;Q00987;G3XA89;Q00987-2;Q00987-11	.;MDM2_HUMAN;.;.;.	D	302;251;241;126;101;249;126;257;247;249;126;271;126;101	ENSP00000417281:E302D;ENSP00000258149:E241D;ENSP00000348637:E126D;ENSP00000440932:E101D;ENSP00000258148:E247D;ENSP00000266624:E271D;ENSP00000299252:E126D;ENSP00000353611:E101D	.	E	+	3	2	MDM2	67516784	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.227000	0.42972	0.233000	0.21120	-0.290000	0.09829	GAA	-	NULL		0.318	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	protein_coding	OTTHUMT00000402665.1	A	NM_006880		67516784	+1	no_errors	NM_002392.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
REC114	283677	genome.wustl.edu	37	15	73735530	73735530	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr15:73735530G>A	ENST00000331090.6	+	1	32	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	C15orf60_ENST00000560581.1_Missense_Mutation_p.A2T	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		2					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GCAGGACATGGCGGAGGCAGG	0.652																																						dbGAP											0			15											12.0	18.0	16.0					15																	73735530		2105	4218	6323	71522583	SO:0001583	missense	0																														ENST00000331090.6:c.4G>A	15.37:g.73735530G>A	ENSP00000328423:p.Ala2Thr	84	5.62	5		NA	NA	NA	71522583	63	44.74	51		Missense_Mutation	SNP	NULL	p.A2T	ENST00000331090.6	37	c.4	CCDS45296.1	15	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785645	0.49997	.	.	ENSG00000183324	ENST00000331090	T	0.52983	0.64	3.45	2.51	0.30379	.	0.348811	0.24700	N	0.036303	T	0.45054	0.1323	L	0.56769	1.78	0.23724	N	0.997018	P	0.45957	0.869	P	0.44647	0.456	T	0.38265	-0.9669	10	0.66056	D	0.02	-4.0555	8.3336	0.32202	0.0:0.0:0.7669:0.233	.	2	Q7Z4M0	CO060_HUMAN	T	2	ENSP00000328423:A2T	ENSP00000328423:A2T	A	+	1	0	C15orf60	71522583	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	2.222000	0.42926	0.989000	0.38761	0.561000	0.74099	GCG	-	NULL		0.652	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf60	protein_coding	OTTHUMT00000419069.1	G			71522583	+1	no_errors	NM_001042367.1	genbank	human	predicted	54_36p	missense	SNP	0.997	A
TP53	7157	genome.wustl.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr17:7577081T>C	ENST00000269305.4	-	8	1046	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286G	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	GAGATTCTCTTCCTCTGTGCG	0.562		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(1)	17	GRCh37	CM920679	TP53	M							95.0	81.0	86.0					17																	7577081		2203	4300	6503	7517806	SO:0001583	missense	0	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.857A>G	17.37:g.7577081T>C	ENSP00000269305:p.Glu286Gly	276	9.21	28		24	90.12	228	7517806	38	81.78	175	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	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.E286G	ENST00000269305.4	37	c.857	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431106	0.62844	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99859	-7.24;-7.24;-7.24;-7.24;-7.24;-7.24	5.12	4.04	0.47022	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	0.99857	0.9933	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.989;0.992;0.995	D	0.97429	1.0014	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	286;286;286;286;286;275;154	ENSP00000352610:E286G;ENSP00000269305:E286G;ENSP00000398846:E286G;ENSP00000391127:E286G;ENSP00000391478:E286G;ENSP00000425104:E154G	ENSP00000269305:E286G	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7517806	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PRX	57716	genome.wustl.edu	37	19	40902998	40902998	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr19:40902998T>C	ENST00000324001.7	-	7	1531	c.1261A>G	c.(1261-1263)Aag>Gag	p.K421E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	421					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGGCATCTTGATGGTGGGC	0.597																																						dbGAP											0			19											56.0	61.0	59.0					19																	40902998		2203	4299	6502	45594838	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1261A>G	19.37:g.40902998T>C	ENSP00000326018:p.Lys421Glu	74	9.64	8		3	50.00	3	45594838	63	43.86	50	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.K421E	ENST00000324001.7	37	c.1261	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718396	0.48622	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02656	4.21	4.65	4.65	0.58169	.	0.125508	0.36101	N	0.002782	T	0.06325	0.0163	M	0.68317	2.08	0.80722	D	1	P	0.46512	0.879	P	0.45639	0.488	T	0.27191	-1.0081	10	0.42905	T	0.14	-24.3928	11.6968	0.51548	0.0:0.0:0.0:1.0	.	421	Q9BXM0	PRAX_HUMAN	E	421	ENSP00000326018:K421E	ENSP00000326018:K421E	K	-	1	0	PRX	45594838	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.578000	0.36525	1.950000	0.56595	0.533000	0.62120	AAG	-	NULL		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	T	NM_020956		45594838	-1	no_errors	NM_181882.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	C
EFCAB6	64800	genome.wustl.edu	37	22	43985964	43985964	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr22:43985964G>T	ENST00000262726.7	-	24	3275	c.3022C>A	c.(3022-3024)Ctg>Atg	p.L1008M	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L856M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTGTTTAGCAGATGGGTCAGC	0.423																																						dbGAP											0			22											216.0	193.0	201.0					22																	43985964		2203	4300	6503	42317297	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3022C>A	22.37:g.43985964G>T	ENSP00000262726:p.Leu1008Met	227	1.30	3		NA	NA	NA	42317297	240	22.36	70	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	HMMSmart_SM00054,HMMPfam_DUF1880,PatternScan_EF_HAND_1,superfamily_EF-hand	p.L1008M	ENST00000262726.7	37	c.3022	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774372	0.31411	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.84516	-1.86;-1.86	4.73	2.44	0.29823	EF-hand-like domain (1);	0.212982	0.29987	N	0.010691	T	0.72455	0.3462	N	0.16201	0.385	0.19945	N	0.999946	P;P	0.48294	0.759;0.908	B;P	0.44518	0.25;0.452	T	0.64309	-0.6438	10	0.37606	T	0.19	-9.3779	8.1	0.30850	0.0785:0.0:0.6479:0.2736	.	856;1008	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	M	856;1008	ENSP00000379533:L856M;ENSP00000262726:L1008M	ENSP00000262726:L1008M	L	-	1	2	EFCAB6	42317297	0.952000	0.32445	0.010000	0.14722	0.017000	0.09413	2.098000	0.41757	1.095000	0.41419	0.555000	0.69702	CTG	-	superfamily_EF-hand		0.423	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	protein_coding	OTTHUMT00000353176.1	G	NM_022785		42317297	-1	no_errors	NM_022785.2	genbank	human	validated	54_36p	missense	SNP	0.478	T
TMEM107	84314	genome.wustl.edu	37	17	8076869	8076870	+	IGR	INS	-	-	GGA	rs78363053|rs539261856	byFrequency	TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	-	-	-	GGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr17:8076869_8076870insGGA	ENST00000437139.2	-	0	747				TMEM107_ENST00000449985.2_3'UTR|SNORD118_ENST00000363593.1_RNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107						cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						atctgccctccggaggaggaac	0.465																																						dbGAP											0			17																																								8017595	SO:0001628	intergenic_variant	0			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40			17.37:g.8076876_8076878dupGGA		220	1.79	4		19	0.00	0	8017594	105	16.67	21	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	RNA	INS	-	NULL	ENST00000437139.2	37	NULL	CCDS45607.1	17																																																																																			-	-		0.465	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000200463	protein_coding	OTTHUMT00000388844.1	-	NM_032354		8017595	-1	no_errors	ENST00000363593	ensembl	human	novel	54_36p	rna	INS	0.688:0.440	GGA
CEBPA	1050	genome.wustl.edu	37	19	33792895	33792896	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	CC	CC	CC	-	CC	CC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr19:33792895_33792896delCC	ENST00000498907.2	-	1	574_575	c.425_426delGG	c.(424-426)aggfs	p.R142fs	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	142					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L78_A174del(1)|p.R142T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGGGCTCCAGCCTGCCGTCCAG	0.802			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	2	Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	19																																								38484736	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.425_426delGG	19.37:g.33792895_33792896delCC	ENSP00000427514:p.Arg142fs	0	0.00	0		0	51.35	114	38484735	0	0.00	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.R142fs	ENST00000498907.2	37	c.426_425	CCDS54243.1	19																																																																																			-	NULL		0.802	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	CC	NM_004364		38484736	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.999:1.000	-
