#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
GNB1	2782	genome.wustl.edu	37	1	1747228	1747228	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr1:1747228T>G	ENST00000378609.4	-	5	501	c.170A>C	c.(169-171)aAg>aCg	p.K57T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	57					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGTAGATCTTGGCCAGGTG	0.517																																						dbGAP											0			1											150.0	113.0	126.0					1																	1747228		2203	4300	6503	1737088	SO:0001583	missense	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.170A>C	1.37:g.1747228T>G	ENSP00000367872:p.Lys57Thr	318	0.00	0		227	45.71	192	1737088	130	49.81	134	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.K57T	ENST00000378609.4	37	c.170	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939455	0.52972	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.39467	1.215	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66308	-0.5956	10	0.56958	D	0.05	-28.3985	15.1503	0.72692	0.0:0.0:0.0:1.0	.	57	P62873	GBB1_HUMAN	T	57;57;57;44;57	ENSP00000367872:K57T;ENSP00000392765:K57T;ENSP00000399741:K44T;ENSP00000416651:K57T	ENSP00000367869:K57T	K	-	2	0	GNB1	1737088	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.348000	0.79366	2.260000	0.74910	0.533000	0.62120	AAG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.517	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	protein_coding	OTTHUMT00000002762.3	T	NM_002074		1737088	-1	no_errors	NM_002074.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
BLZF1	8548	genome.wustl.edu	37	1	169345861	169345861	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr1:169345861G>A	ENST00000367808.3	+	3	535	c.112G>A	c.(112-114)Gga>Aga	p.G38R	BLZF1_ENST00000329281.2_Missense_Mutation_p.G38R|BLZF1_ENST00000367807.3_Missense_Mutation_p.G38R			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	38					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGTTACCTCCGGAGTCCAATC	0.458																																						dbGAP											0			1											89.0	89.0	89.0					1																	169345861		2203	4300	6503	167612485	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.112G>A	1.37:g.169345861G>A	ENSP00000356782:p.Gly38Arg	119	0.00	0		10	54.55	12	167612485	102	52.21	118	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	HMMPfam_DASH_Hsk3	p.G38R	ENST00000367808.3	37	c.112	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777563	0.31502	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.50001	1.42;1.42;0.78;0.76;1.42	5.27	4.36	0.52297	.	0.424034	0.26919	N	0.021840	T	0.26846	0.0657	M	0.70595	2.14	0.33565	D	0.597833	B;B;P	0.41710	0.125;0.125;0.76	B;B;B	0.32533	0.019;0.019;0.147	T	0.21724	-1.0237	9	0.45353	T	0.12	-37.4004	11.1458	0.48430	0.0848:0.0:0.9152:0.0	.	38;38;38	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	R	38	ENSP00000356782:G38R;ENSP00000327541:G38R;ENSP00000356781:G38R;ENSP00000414668:G38R;ENSP00000404408:G38R	ENSP00000327541:G38R	G	+	1	0	BLZF1	167612485	0.562000	0.26586	0.780000	0.31762	0.353000	0.29299	3.338000	0.52128	1.243000	0.43853	0.586000	0.80456	GGA	-	NULL		0.458	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	protein_coding	OTTHUMT00000086109.1	G	NM_003666		167612485	+1	no_errors	NM_003666.2	genbank	human	validated	54_36p	missense	SNP	0.951	A
ADCY3	109	genome.wustl.edu	37	2	25050814	25050814	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:25050814G>A	ENST00000260600.5	-	13	3240	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S	ADCY3_ENST00000450524.1_5'UTR|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.P384S	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	797					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCAAAGACGGGACGCCAGGCA	0.582											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			2											101.0	91.0	94.0					2																	25050814		2203	4300	6503	24904318	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2389C>T	2.37:g.25050814G>A	ENSP00000260600:p.Pro797Ser	153	1.91	3	776	19	42.42	14	24904318	97	47.57	88	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1	p.P797S	ENST00000260600.5	37	c.2389	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	G	0.551	-0.849365	0.02651	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.38	2.58	0.30949	.	0.293497	0.38436	N	0.001688	T	0.39462	0.1079	N	0.11064	0.09	0.33882	D	0.636217	B;B;B	0.25235	0.008;0.024;0.121	B;B;B	0.20767	0.004;0.004;0.031	T	0.40194	-0.9576	10	0.07990	T	0.79	.	9.1298	0.36839	0.0686:0.0:0.6689:0.2625	.	797;797;384	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	S	797;384;772;136;140	ENSP00000260600:P797S;ENSP00000384484:P384S;ENSP00000402008:P136S;ENSP00000410972:P140S	ENSP00000260600:P797S	P	-	1	0	ADCY3	24904318	0.996000	0.38824	0.758000	0.31321	0.007000	0.05969	2.405000	0.44548	0.384000	0.24942	-0.895000	0.02911	CCC	-	NULL		0.582	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	protein_coding	OTTHUMT00000211574.2	G			24904318	-1	no_errors	NM_004036.3	genbank	human	reviewed	54_36p	missense	SNP	0.956	A
ALMS1	7840	genome.wustl.edu	37	2	73746927	73746927	+	Missense_Mutation	SNP	C	C	T	rs376367125		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:73746927C>T	ENST00000264448.6	+	11	9673	c.9562C>T	c.(9562-9564)Ctt>Ttt	p.L3188F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L3146F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3188					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGACCCCACTTTCTGCTTT	0.368																																						dbGAP											0			2						C	PHE/LEU	0,3626		0,0,1813	79.0	77.0	78.0		9562	-1.7	0.0	2		78	2,8144		0,2,4071	no	missense	ALMS1	NM_015120.4	22	0,2,5884	TT,TC,CC		0.0246,0.0,0.017	benign	3188/4168	73746927	2,11770	1813	4073	5886	73600435	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9562C>T	2.37:g.73746927C>T	ENSP00000264448:p.Leu3188Phe	137	0.00	0		10	58.33	14	73600435	108	40.96	77	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.L3188F	ENST00000264448.6	37	c.9562	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476912	0.12521	0.0	2.46E-4	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05717	3.4;3.4	5.26	-1.67	0.08238	.	2.561490	0.01105	N	0.005462	T	0.02494	0.0076	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38714	-0.9648	10	0.09590	T	0.72	.	5.3565	0.16063	0.0:0.4087:0.1643:0.427	.	3188;3188;3146;3188	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	F	3146;3188	ENSP00000386627:L3146F;ENSP00000264448:L3188F	ENSP00000264448:L3188F	L	+	1	0	ALMS1	73600435	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.766000	0.04725	-0.197000	0.10350	-0.355000	0.07637	CTT	-	NULL		0.368	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73600435	+1	no_errors	NM_015120.4	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179442196	179442196	+	Silent	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:179442196G>A	ENST00000591111.1	-	274	64167	c.63943C>T	c.(63943-63945)Cta>Tta	p.L21315L	TTN_ENST00000359218.5_Silent_p.L14016L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L14083L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L13891L|TTN_ENST00000342992.6_Silent_p.L20388L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Silent_p.L22956L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21315	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATTGTTAGCCCATCTTTT	0.373																																						dbGAP											0			2											64.0	56.0	59.0					2																	179442196		1849	4094	5943	179150442	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63943C>T	2.37:g.179442196G>A		158	0.00	0		1	0.00	0	179150442	95	35.37	52	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.L18937	ENST00000591111.1	37	c.56809		2																																																																																			-	HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179150442	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	silent	SNP	0.869	A
RELN	5649	genome.wustl.edu	37	7	103151448	103151448	+	Silent	SNP	A	A	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr7:103151448A>G	ENST00000428762.1	-	51	8283	c.8124T>C	c.(8122-8124)aaT>aaC	p.N2708N	RELN_ENST00000343529.5_Silent_p.N2708N|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.N2708N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2708					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGTGCTCATTCACTTAAA	0.353																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0			7											81.0	69.0	73.0					7																	103151448		2203	4300	6503	102938684	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8124T>C	7.37:g.103151448A>G		117	0.00	0		NA	NA	NA	102938684	110	36.31	65	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196	p.N2708	ENST00000428762.1	37	c.8124	CCDS47680.1	7																																																																																			-	superfamily_Sialidase		0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	A	NM_005045		102938684	-1	no_errors	NM_005045.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
DNAI1	27019	genome.wustl.edu	37	9	34506776	34506776	+	Silent	SNP	C	C	T	rs376177487		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr9:34506776C>T	ENST00000242317.4	+	13	1386	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	405					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCCACTATGACGGCAACGTGG	0.587									Kartagener syndrome																													dbGAP											0			9						T		1,4405	2.1+/-5.4	0,1,2202	87.0	72.0	77.0		1215	-5.9	0.8	9		77	0,8600		0,0,4300	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		405/700	34506776	1,13005	2203	4300	6503	34496776	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1215C>T	9.37:g.34506776C>T		149	0.00	0		NA	NA	NA	34496776	92	43.71	73	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.D405	ENST00000242317.4	37	c.1215	CCDS6557.1	9																																																																																			-	HMMSmart_WD40,superfamily_WD40_like		0.587	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	protein_coding	OTTHUMT00000052192.1	C			34496776	+1	no_errors	NM_012144.2	genbank	human	reviewed	54_36p	silent	SNP	0.604	T
TNC	3371	genome.wustl.edu	37	9	117798422	117798422	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr9:117798422T>C	ENST00000350763.4	-	21	6022	c.5611A>G	c.(5611-5613)Aaa>Gaa	p.K1871E	TNC_ENST00000542877.1_Missense_Mutation_p.K1508E|TNC_ENST00000535648.1_Missense_Mutation_p.K1416E|TNC_ENST00000537320.1_Missense_Mutation_p.K1234E|TNC_ENST00000340094.3_Missense_Mutation_p.K1507E|TNC_ENST00000345230.3_Missense_Mutation_p.K1234E|TNC_ENST00000423613.2_Missense_Mutation_p.K1598E|TNC_ENST00000341037.4_Missense_Mutation_p.K1689E|TNC_ENST00000346706.3_Missense_Mutation_p.K1325E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1871	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGGGCCCTTTCTCTGCAAAG	0.552																																						dbGAP											0			9											164.0	146.0	152.0					9																	117798422		2203	4300	6503	116838243	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5611A>G	9.37:g.117798422T>C	ENSP00000265131:p.Lys1871Glu	475	1.45	7		NA	NA	NA	116838243	293	47.12	262	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2	p.K1871E	ENST00000350763.4	37	c.5611	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.54|13.54	2.268732|2.268732	0.40095|0.40095	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.57436|0.53206	0.4|0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.38|5.38	4.23|4.23	0.50019|0.50019	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.169985	.|0.52532	.|D	.|0.000069	T|T	0.62925|0.62925	0.2468|0.2468	M|M	0.84219|0.84219	2.685|2.685	0.09310|0.09310	N|N	0.999999|0.999999	.|D;P	.|0.56035	.|0.974;0.639	.|P;P	.|0.55222	.|0.771;0.595	T|T	0.58526|0.58526	-0.7621|-0.7621	7|10	0.51188|0.39692	T|T	0.08|0.17	.|.	12.4696|12.4696	0.55779|0.55779	0.0:0.0:0.1402:0.8598|0.0:0.0:0.1402:0.8598	.|.	.|1598;1871	.|E9PC84;P24821	.|.;TENA_HUMAN	G|E	433|1507;1416;1325;1234;1871;1689;1598;1234;1508	ENSP00000445380:E433G|ENSP00000344400:K1507E;ENSP00000438152:K1416E;ENSP00000344555:K1325E;ENSP00000345861:K1234E;ENSP00000265131:K1871E;ENSP00000339553:K1689E;ENSP00000411406:K1598E;ENSP00000443478:K1234E;ENSP00000442242:K1508E	ENSP00000445380:E433G|ENSP00000344400:K1507E	E|K	-|-	2|1	0|0	TNC|TNC	116838243|116838243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	3.909000|3.909000	0.56363|0.56363	0.856000|0.856000	0.35383|0.35383	0.533000|0.533000	0.62120|0.62120	GAA|AAA	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160		116838243	-1	no_errors	NM_002160.2	genbank	human	validated	54_36p	missense	SNP	0.977	C
CDON	50937	genome.wustl.edu	37	11	125871701	125871701	+	Missense_Mutation	SNP	C	C	T	rs139323558		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr11:125871701C>T	ENST00000392693.3	-	11	2198	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	CDON_ENST00000531738.1_Missense_Mutation_p.V68M|CDON_ENST00000263577.7_Missense_Mutation_p.V691M	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	691			V -> M (in HPE11). {ECO:0000269|PubMed:21802063}.		anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGATGCCCACGGGTGGAGAG	0.403																																						dbGAP											0			11						C	MET/VAL	0,4402		0,0,2201	123.0	122.0	122.0		2071	-1.9	0.0	11	dbSNP_134	122	3,8595	3.0+/-9.4	0,3,4296	no	missense	CDON	NM_016952.4	21	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	benign	691/1265	125871701	3,12997	2201	4299	6500	125376911	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2071G>A	11.37:g.125871701C>T	ENSP00000376458:p.Val691Met	552	1.07	6		NA	NA	NA	125376911	354	37.80	217	O14631	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.V691M	ENST00000392693.3	37	c.2071	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129271	0.08981	0.0	3.49E-4	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70164	-0.44;0.22;-0.46	5.78	-1.91	0.07641	.	0.747822	0.11818	N	0.526509	T	0.38957	0.1060	N	0.11560	0.145	0.09310	N	1	B;B;B	0.28470	0.064;0.213;0.027	B;B;B	0.26614	0.015;0.071;0.018	T	0.17684	-1.0361	10	0.30078	T	0.28	-0.2451	5.0358	0.14434	0.221:0.3318:0.0:0.4472	.	691;691;68	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	M	691;68;691	ENSP00000376458:V691M;ENSP00000432901:V68M;ENSP00000263577:V691M	ENSP00000263577:V691M	V	-	1	0	CDON	125376911	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.081000	0.11321	-0.538000	0.06281	-0.857000	0.03018	GTG	-	NULL		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	C	NM_016952		125376911	-1	no_errors	NM_016952.4	genbank	human	validated	54_36p	missense	SNP	0.118	T
MTUS2	23281	genome.wustl.edu	37	13	29600513	29600513	+	Missense_Mutation	SNP	G	G	A	rs371733167		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr13:29600513G>A	ENST00000431530.3	+	1	1766	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	560						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGATGTTAGCGTGTTCGGTAT	0.517																																						dbGAP											0			13						G	MET/VAL	1,4065		0,1,2032	113.0	115.0	114.0		1708	-1.7	0.0	13		114	0,8406		0,0,4203	no	missense	MTUS2	NM_001033602.2	21	0,1,6235	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	570/1380	29600513	1,12471	2033	4203	6236	28498513	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1708G>A	13.37:g.29600513G>A	ENSP00000392057:p.Val570Met	294	0.68	2		NA	NA	NA	28498513	204	38.39	129	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.V570M	ENST00000431530.3	37	c.1708	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.06	1.823702	0.32237	2.46E-4	0.0	ENSG00000132938	ENST00000431530	T	0.12361	2.69	5.92	-1.74	0.08056	.	0.813733	0.10755	N	0.637863	T	0.07954	0.0199	L	0.44542	1.39	0.09310	N	1	P	0.38167	0.621	B	0.21360	0.034	T	0.27331	-1.0077	9	.	.	.	.	7.3858	0.26882	0.4167:0.1056:0.4777:0.0	.	560	Q5JR59	MTUS2_HUMAN	M	570	ENSP00000392057:V570M	.	V	+	1	0	MTUS2	28498513	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.287000	0.08388	-0.114000	0.11936	-0.140000	0.14226	GTG	-	NULL		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	KIAA0774	protein_coding	OTTHUMT00000044336.3	G	XM_166270		28498513	+1	no_errors	NM_001033602.2	genbank	human	validated	54_36p	missense	SNP	0.000	A
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)	15											103.0	103.0	103.0					15																	90631934		2200	4298	6498	88432938	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln	114	2.56	3		111	47.89	102	88432938	93	42.68	70	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140Q	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432938	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
BZRAP1	9256	genome.wustl.edu	37	17	56408622	56408622	+	5'Flank	SNP	C	C	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr17:56408622C>G	ENST00000268893.6	-	0	0				MIR142_ENST00000384835.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1_ENST00000355701.3_5'Flank	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGTAGGAAACACTACACCCT	0.587																																						dbGAP											0			17											107.0	103.0	104.0					17																	56408622		1568	3582	5150	53763621	SO:0001631	upstream_gene_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408622C>G	Exception_encountered	257	0.00	0		78	21.21	21	53763621	114	25.16	39	O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			-	-		0.587	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIRN142	protein_coding	OTTHUMT00000443978.1	C	NM_004758		53763621	-1	no_errors	ENST00000384835	ensembl	human	known	54_36p	rna	SNP	1.000	G
TCEB3B	51224	genome.wustl.edu	37	18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	rs149522210		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692																																						dbGAP											0			18						C	THR/ALA,	0,4368		0,0,2184	25.0	30.0	28.0		559,	-1.5	0.0	18	dbSNP_134	28	2,8558		0,2,4278	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	58,	0,2,6462	TT,TC,CC		0.0234,0.0,0.0155	possibly-damaging,	187/754,	44561077	2,12926	2184	4280	6464	42815075	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.559G>A	18.37:g.44561077C>T	ENSP00000331302:p.Ala187Thr	6	0.00	0		NA	NA	NA	42815075	4	61.54	8	Q9P2V9	Missense_Mutation	SNP	HMMSmart_TFS2N,HMMPfam_Elongin_A,HMMPfam_TFIIS	p.A187T	ENST00000332567.4	37	c.559	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270262	0.05716	0.0	2.34E-4	ENSG00000206181	ENST00000332567	T	0.06687	3.27	1.35	-1.55	0.08558	.	2.801650	0.02300	N	0.071111	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P	0.36733	0.567	B	0.22753	0.041	T	0.34527	-0.9825	10	0.16896	T	0.51	0.2097	4.5325	0.12011	0.0:0.5059:0.0:0.4941	.	187	Q8IYF1	ELOA2_HUMAN	T	187	ENSP00000331302:A187T	ENSP00000331302:A187T	A	-	1	0	TCEB3B	42815075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.651000	0.05372	-0.455000	0.07054	-0.498000	0.04607	GCT	-	NULL		0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	C	NM_016427		42815075	-1	no_errors	NM_016427.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
FAM60CP	728115	genome.wustl.edu	37	18	57684225	57684225	+	lincRNA	SNP	C	C	T			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr18:57684225C>T	ENST00000585691.1	+	0	3524				RNU6-567P_ENST00000516746.1_RNA																							GAACCAGAAGCCATCTCTGTA	0.438																																						dbGAP											0			18																																								55835205			0																															18.37:g.57684225C>T		207	0.96	2		42	0.00	0	55835205	101	42.37	75		RNA	SNP	-	NULL	ENST00000585691.1	37	NULL		18																																																																																			-	-		0.438	RP11-866E20.3-001	KNOWN	basic	lincRNA	LOC728115	lincRNA	OTTHUMT00000449078.1	C			55835205	-1	pseudogene	XR_038858.1	genbank	human	model	54_36p	rna	SNP	0.881	T
FPR1	2357	genome.wustl.edu	37	19	52249273	52249273	+	Silent	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr19:52249273G>A	ENST00000595042.1	-	3	1116	c.975C>T	c.(973-975)acC>acT	p.T325T	FPR1_ENST00000304748.4_Silent_p.T325T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	325					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TTGAGTCCTCGGTCAGGGCCC	0.567																																						dbGAP											0			19											132.0	126.0	128.0					19																	52249273		2203	4300	6503	56941085	SO:0001819	synonymous_variant	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.975C>T	19.37:g.52249273G>A		573	0.00	0		44	50.56	45	56941085	275	39.04	178	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.T325	ENST00000595042.1	37	c.975	CCDS12839.1	19																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.567	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	protein_coding	OTTHUMT00000466905.1	G	NM_002029		56941085	-1	no_errors	NM_002029.3	genbank	human	validated	54_36p	silent	SNP	0.875	A
KIR3DX1	90011	genome.wustl.edu	37	19	55047063	55047063	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr19:55047063G>A	ENST00000335056.3	+	4	646	c.608G>A	c.(607-609)cGc>cAc	p.R203H	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	203						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGTCACTCCCGCTATGAGTGG	0.567																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	dbGAP											0			19											76.0	79.0	78.0					19																	55047063		2184	4295	6479	59738875	SO:0001583	missense	0			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.608G>A	19.37:g.55047063G>A	ENSP00000335388:p.Arg203His	154	0.64	1		1	66.67	2	59738875	141	45.45	120	B7WNL0|Q8N0S4	Missense_Mutation	SNP	HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin	p.R203H	ENST00000335056.3	37	c.608		19	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706570	0.30232	.	.	ENSG00000104970	ENST00000335056	T	0.12465	2.68	1.96	-0.655	0.11439	.	1.083260	0.07500	U	0.907147	T	0.17238	0.0414	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42292	-0.9460	7	0.62326	D	0.03	.	9.7039	0.40203	0.0:0.3462:0.6538:0.0	.	.	.	.	H	203	ENSP00000335388:R203H	ENSP00000221567:R203H	R	+	2	0	KIR3DX1	59738875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.204000	0.17335	-0.336000	0.08438	-2.140000	0.00339	CGC	-	HMMSmart_SM00409,superfamily_Immunoglobulin		0.567	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	KIR3DX1	protein_coding	OTTHUMT00000140800.2	G	NR_026716		59738875	+1	no_errors	ENST00000221567	ensembl	human	known	54_36p	missense	SNP	0.000	A
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	174	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		R -> Q (in FPDMM; impaired phosphorylation). {ECO:0000269|PubMed:10508512, ECO:0000269|PubMed:18695000}.		behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R201*(5)|p.R201G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGAGGTTCTCGGGGCCCATCC	0.552			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274.0	240.0	251.0					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	190	0.52	1		141	51.88	152	35153653	117	39.69	77	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	0.655000	0.94253	CGA	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.552	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36252939	36252940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr21:36252939_36252940insG	ENST00000344691.4	-	2	1918_1919	c.341_342insC	c.(340-342)tcgfs	p.S114fs	RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.S129fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.S141fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.S117fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.S141fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.S114fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.S114fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	114	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S141*(2)|p.S141L(1)|p.S141fs*4(1)|p.A142fs*5(1)|p.A142fs*3(1)|p.A142fs*8(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCAGCTCAGCCGAGTAGTTTTC	0.495			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	7	Insertion - Frameshift(2)|Substitution - Nonsense(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(7)	21																																								35174810	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.342dupC	21.37:g.36252940_36252940dupG	ENSP00000340690:p.Ser114fs	91	0.00	0		49	33.78	25	35174809	64	34.69	34	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.A142fs	ENST00000344691.4	37	c.423_422	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.495	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174810	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.921:1.000	G
