#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCN8A	6334	broad.mit.edu	37	12	52145212	52145212	+	Silent	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:52145212C>T	ENST00000354534.6	+	14	2383	c.2205C>T	c.(2203-2205)tgC>tgT	p.C735C	SCN8A_ENST00000545061.1_Silent_p.C735C|SCN8A_ENST00000550891.1_Silent_p.C735C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	735					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCTGGGAGTGCCACCCCTACT	0.443																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2203-2205)tgC>tgT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						196.0	183.0	187.0					12																	52145212		1927	4142	6069	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145212C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2205C>T	12.37:g.52145212C>T						SCN8A_ENST00000550891.1_Silent_p.C735C|SCN8A_ENST00000545061.1_Silent_p.C735C	p.C735C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2383	+			735					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.2205C>T	CCDS44891.1																																																																																				0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	119	0	0	0	1	0	4	119				
CDK5RAP2	55755	broad.mit.edu	37	9	123342198	123342198	+	Splice_Site	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr9:123342198C>T	ENST00000349780.4	-	1	238	c.59G>A	c.(58-60)aGt>aAt	p.S20N	CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20N|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20N|CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	20					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCGGCCGCACCTGCAGCCGCT	0.642																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.e1+1		CDK5 regulatory subunit associated protein 2							41.0	34.0	36.0					9																	123342198		2203	4299	6502	SO:0001630	splice_region_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123342198C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.59+1G>A	9.37:g.123342198C>T						CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20_splice	p.S20_splice	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			1	238	-			20					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	SNP	ENST00000349780.4	37	c.59_splice	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403366	0.83230	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.04809	3.71;3.55;3.67;3.57	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000032	T	0.12433	0.0302	L	0.32530	0.975	0.31564	N	0.6572	D;P;D	0.76494	0.999;0.873;0.998	D;B;D	0.83275	0.996;0.382;0.991	T	0.01440	-1.1354	9	.	.	.	.	13.9646	0.64200	0.0:1.0:0.0:0.0	.	20;20;20	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	N	20	ENSP00000354065:S20N;ENSP00000352258:S20N;ENSP00000343818:S20N;ENSP00000353317:S20N	.	S	-	2	0	CDK5RAP2	122382019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.944000	0.49034	2.745000	0.94114	0.655000	0.94253	AGT		0.642	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Missense_Mutation	7	9	0	0	0	1	0	7	9				
RORC	6097	broad.mit.edu	37	1	151786011	151786011	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:151786011C>T	ENST00000318247.6	-	7	1126	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D|RORC_ENST00000356728.6_Missense_Mutation_p.G319D	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	340	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATAAAGCCTGAGAGCCT	0.602																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(955-957)gGc>gAc		RAR-related orphan receptor C							88.0	81.0	84.0					1																	151786011		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151786011C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1019G>A	1.37:g.151786011C>T	ENSP00000327025:p.Gly340Asp					RORC_ENST00000318247.6_Missense_Mutation_p.G340D|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D	p.G319D	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	1110	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		340			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.956G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110583	0.94292	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97209	-4.29;-4.29;-4.29	5.3	5.3	0.74995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	U	0.000003	D	0.98804	0.9597	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.99816	1.1044	10	0.87932	D	0	.	17.5195	0.87783	0.0:1.0:0.0:0.0	.	340;394;340;319	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	D	319;394;340	ENSP00000349164:G319D;ENSP00000376461:G394D;ENSP00000327025:G340D	ENSP00000327025:G340D	G	-	2	0	RORC	150052635	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.794000	0.85869	2.469000	0.83416	0.563000	0.77884	GGC		0.602	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			13	31	0	0	0	1	0	13	31				
POU6F2	11281	broad.mit.edu	37	7	39247055	39247055	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:39247055C>T	ENST00000403058.1	+	5	501	c.347C>T	c.(346-348)gCc>gTc	p.A116V	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.A116V|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	116					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCCCCCAGCCCTCAACCAG	0.577																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(346-348)gCc>gTc		POU class 6 homeobox 2							98.0	101.0	100.0					7																	39247055		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247055C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.347C>T	7.37:g.39247055C>T	ENSP00000384004:p.Ala116Val					POU6F2_ENST00000403058.1_Missense_Mutation_p.A116V|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V	p.A116V			P78424	PO6F2_HUMAN			4	389	+			116					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.347C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291301	0.80914	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.88354	-2.36;-2.37	6.17	6.17	0.99709	.	1.293710	0.05365	N	0.534486	D	0.90075	0.6900	L	0.29908	0.895	0.32672	N	0.516707	P;B	0.45531	0.86;0.376	P;B	0.47075	0.536;0.141	D	0.85159	0.0991	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	116;116	P78424-2;P78424	.;PO6F2_HUMAN	V	116;116;117	ENSP00000384004:A116V;ENSP00000430514:A116V	ENSP00000384004:A116V	A	+	2	0	POU6F2	39213580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.155000	0.71833	2.941000	0.99782	0.655000	0.94253	GCC		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		31	79	0	0	0	1	0	31	79				
PRR4	11272	broad.mit.edu	37	12	10999642	10999642	+	Splice_Site	SNP	A	A	G	rs77818542		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:10999642A>G	ENST00000228811.4	-	3	461		c.e3+1		PRR4_ENST00000536668.1_Splice_Site|PRR4_ENST00000540107.1_Splice_Site|PRR4_ENST00000544994.1_Splice_Site	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)						retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CTGGAATCATACCTGCCACTG	0.423																																						ENST00000228811.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						c.e3+1		proline rich 4 (lacrimal)							101.0	99.0	100.0					12																	10999642		1952	4133	6085	SO:0001630	splice_region_variant	11272				visual perception	extracellular space		g.chr12:10999642A>G		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.402+1T>C	12.37:g.10999642A>G						PRR4_ENST00000540107.1_Splice_Site|PRR4_ENST00000536668.1_Splice_Site|PRR4_ENST00000544994.1_Splice_Site		NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN			3	461	-								A8KA69|F5H0D7|Q8NFB3	Splice_Site	SNP	ENST00000228811.4	37		CCDS41756.1	.	.	.	.	.	.	.	.	.	.	A	2.025	-0.423748	0.04734	.	.	ENSG00000111215	ENST00000544994;ENST00000431566	.	.	.	1.74	0.507	0.16967	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7953	0.08737	0.6674:0.0:0.0:0.3326	.	.	.	.	.	-1	.	.	.	-	.	.	PRR4	10890909	0.009000	0.17119	0.001000	0.08648	0.011000	0.07611	0.648000	0.24828	0.112000	0.17975	-0.898000	0.02899	.		0.423	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244	Intron	3	67	0	0	0	1	0	3	67				
NF1	4763	broad.mit.edu	37	17	29554565	29554565	+	Missense_Mutation	SNP	T	T	A	rs199474730		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:29554565T>A	ENST00000358273.4	+	20	2733	c.2350T>A	c.(2350-2352)Tgg>Agg	p.W784R	NF1_ENST00000356175.3_Missense_Mutation_p.W784R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	784			W -> C (in NF1; dbSNP:rs199474778). {ECO:0000269|PubMed:11735023}.|W -> R (in NF1; dbSNP:rs199474730). {ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:15146469}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATGCAAAATGGGAACAAGC	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(4)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	soft_tissue(9)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM020464	NF1	M		c.(2350-2352)Tgg>Agg		neurofibromin 1							101.0	89.0	93.0					17																	29554565		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29554565T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2350T>A	17.37:g.29554565T>A	ENSP00000351015:p.Trp784Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.W784R	p.W784R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2733	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	784		W -> C (in NF1).|W -> R (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2350T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.309446	0.81247	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.64991	-0.13;-0.13;0.9	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.986;0.998	T	0.77953	-0.2394	10	0.87932	D	0	.	14.6843	0.69040	0.0:0.0:0.0:1.0	.	784;784;784	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	R	784;784;450	ENSP00000351015:W784R;ENSP00000348498:W784R;ENSP00000389907:W450R	ENSP00000348498:W784R	W	+	1	0	NF1	26578691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.529000	0.81952	1.937000	0.56155	0.528000	0.53228	TGG		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		16	22	0	0	0	1	0	16	22				
KLF10	7071	broad.mit.edu	37	8	103662557	103662557	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr8:103662557G>C	ENST00000285407.6	-	4	1546	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	KLF10_ENST00000395884.3_Missense_Mutation_p.L405V	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	416					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCTGGACAGTTCATCAGAA	0.478																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(1213-1215)Ctg>Gtg		Kruppel-like factor 10							97.0	88.0	91.0					8																	103662557		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103662557G>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1246C>G	8.37:g.103662557G>C	ENSP00000285407:p.Leu416Val					KLF10_ENST00000285407.6_Missense_Mutation_p.L416V	p.L405V	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		4	2115	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		416					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1213C>G	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485331	0.84854	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.52983	0.64;0.64	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000021	T	0.75133	0.3808	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.998	T	0.78593	-0.2144	10	0.87932	D	0	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	416;405	Q13118;O75411	KLF10_HUMAN;.	V	416;405	ENSP00000285407:L416V;ENSP00000379222:L405V	ENSP00000285407:L416V	L	-	1	2	KLF10	103731733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.733000	0.93635	0.655000	0.94253	CTG		0.478	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			4	53	0	0	0	1	0	4	53				
BIRC5	332	broad.mit.edu	37	17	76212110	76212110	+	Silent	SNP	C	C	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:76212110C>A	ENST00000301633.4	+	3	416	c.285C>A	c.(283-285)atC>atA	p.I95I	AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			gcgggcggatcacgaggtcag	0.562																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(283-285)atC>atA		baculoviral IAP repeat containing 5							34.0	36.0	35.0					17																	76212110		2203	4296	6499	SO:0001819	synonymous_variant	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212110C>A	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000301633.4:c.285C>A	17.37:g.76212110C>A						BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Intron	p.I95I	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	416	+			74					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Silent	SNP	ENST00000301633.4	37	c.285C>A	CCDS32752.1																																																																																				0.562	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3	NM_001168		3	25	1	0	0.115264	1	0.115264	3	25				
APBB2	323	broad.mit.edu	37	4	41015773	41015773	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr4:41015773C>T	ENST00000295974.8	-	6	1291	c.662G>A	c.(661-663)gGc>gAc	p.G221D	APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	221					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCTACTTGGCCGTCTTCAGG	0.567																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(661-663)gGc>gAc		amyloid beta (A4) precursor protein-binding, family B, member 2							338.0	332.0	334.0					4																	41015773		2035	4187	6222	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015773C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.662G>A	4.37:g.41015773C>T	ENSP00000295974:p.Gly221Asp					APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D	p.G221D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1291	-			221					B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.662G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912893	0.33815	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	6.04	6.04	0.98038	.	0.222150	0.48286	D	0.000191	T	0.22589	0.0545	N	0.08118	0	0.80722	D	1	D;P;P;P	0.57257	0.979;0.611;0.731;0.736	P;B;B;B	0.48552	0.581;0.118;0.234;0.118	T	0.04203	-1.0969	10	0.35671	T	0.21	-32.2724	20.5948	0.99439	0.0:1.0:0.0:0.0	.	204;221;221;221	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	D	221;220;221;221;221	ENSP00000295974:G221D;ENSP00000426018:G221D;ENSP00000427211:G221D;ENSP00000421539:G221D	ENSP00000295974:G221D	G	-	2	0	APBB2	40710530	1.000000	0.71417	0.844000	0.33320	0.033000	0.12548	3.916000	0.56416	2.873000	0.98535	0.563000	0.77884	GGC		0.567	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		5	368	0	0	0	1	0	5	368				
PCDHGC3	5098	broad.mit.edu	37	5	140856203	140856203	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr5:140856203C>G	ENST00000308177.3	+	1	624	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTATGAGCTGAGCCGAAA	0.602																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(520-522)Ctg>Gtg									49.0	51.0	50.0					5																	140856203		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140856203C>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.520C>G	5.37:g.140856203C>G	ENSP00000312070:p.Leu174Val					PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.L174V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	624	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.520C>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831386	0.50845	.	.	ENSG00000240184	ENST00000308177	T	0.55588	0.51	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69396	0.3106	M	0.71871	2.18	0.25514	N	0.987433	D;D	0.61697	0.981;0.99	P;D	0.63113	0.871;0.911	T	0.62751	-0.6788	9	0.72032	D	0.01	.	13.9797	0.64297	0.1513:0.8487:0.0:0.0	.	174;174	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	174	ENSP00000312070:L174V	ENSP00000312070:L174V	L	+	1	2	PCDHGC3	140836387	0.397000	0.25270	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.722000	0.93159	0.655000	0.94253	CTG		0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		12	25	0	0	0	1	0	12	25				
FN1	2335	broad.mit.edu	37	2	216264046	216264046	+	Silent	SNP	G	G	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr2:216264046G>A	ENST00000359671.1	-	21	3547	c.3282C>T	c.(3280-3282)taC>taT	p.Y1094Y	FN1_ENST00000446046.1_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000354785.4_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y			P02751	FINC_HUMAN	fibronectin 1	1094	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTCGGTGTTGTAAGGTGGAA	0.428																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3280-3282)taC>taT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150.0	141.0	144.0					2																	216264046		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216264046G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3282C>T	2.37:g.216264046G>A						FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y|FN1_ENST00000359671.1_Silent_p.Y1094Y|FN1_ENST00000446046.1_Silent_p.Y1094Y	p.Y1094Y			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	21	3651	-		Renal(323;0.127)	1094			Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.3282C>T																																																																																					0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		25	47	0	0	0	1	0	25	47				
ACADM	34	broad.mit.edu	37	1	76200505	76200505	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:76200505T>A	ENST00000370841.4	+	6	854	c.417T>A	c.(415-417)gaT>gaA	p.D139E	ACADM_ENST00000420607.2_Missense_Mutation_p.D143E|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000370834.5_Missense_Mutation_p.D172E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	139					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CTGGAAATGATCAACAAAAGA	0.333																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						c.(415-417)gaT>gaA		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							94.0	89.0	91.0					1																	76200505		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76200505T>A	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.417T>A	1.37:g.76200505T>A	ENSP00000359878:p.Asp139Glu					ACADM_ENST00000543667.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.D172E|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000420607.2_Missense_Mutation_p.D143E	p.D139E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			6	854	+			139					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.417T>A	CCDS668.1	.	.	.	.	.	.	.	.	.	.	T	1.522	-0.546606	0.04024	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.63	-5.35	0.02697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.416073	0.29745	N	0.011305	T	0.76997	0.4066	N	0.03881	-0.34	0.49915	D	0.999839	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.0;0.004;0.0;0.0	T	0.69146	-0.5222	10	0.02654	T	1	.	1.9594	0.03383	0.1552:0.2015:0.3643:0.2789	.	103;53;172;143;139	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	E	139;172;103;143	ENSP00000359878:D139E;ENSP00000359871:D172E;ENSP00000442324:D103E;ENSP00000409612:D143E	ENSP00000359871:D172E	D	+	3	2	ACADM	75973093	0.002000	0.14202	0.696000	0.30242	0.523000	0.34469	-1.080000	0.03407	-1.264000	0.02452	-1.255000	0.01485	GAT		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			3	16	0	0	0	1	0	3	16				
GGT5	2687	broad.mit.edu	37	22	24628063	24628063	+	Missense_Mutation	SNP	G	G	T	rs200437428	byFrequency	TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr22:24628063G>T	ENST00000327365.4	-	5	1126	c.710C>A	c.(709-711)aCg>aAg	p.T237K	GGT5_ENST00000398292.3_Missense_Mutation_p.T237K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000263112.7_Missense_Mutation_p.T205K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	237					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCCTCCCCGTGTAGAAGAC	0.632																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(709-711)aCg>aAg		gamma-glutamyltransferase 5							54.0	45.0	48.0					22																	24628063		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24628063G>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.710C>A	22.37:g.24628063G>T	ENSP00000330080:p.Thr237Lys					GGT5_ENST00000263112.7_Missense_Mutation_p.T205K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000398292.3_Missense_Mutation_p.T237K	p.T237K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			5	1126	-			237					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.710C>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587144	0.46110	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.73	2.24	0.28232	.	0.382480	0.28510	N	0.015083	T	0.28067	0.0692	L	0.42686	1.345	0.09310	N	1	D;P;P;B;P	0.60160	0.987;0.612;0.913;0.408;0.913	P;B;P;B;P	0.62298	0.9;0.365;0.787;0.148;0.787	T	0.10337	-1.0634	10	0.13853	T	0.58	-8.3817	9.973	0.41765	0.0:0.0:0.4564:0.5436	.	160;205;237;237;237	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	K	237;205;152;237;160	ENSP00000330080:T237K;ENSP00000263112:T205K;ENSP00000381340:T237K;ENSP00000392146:T160K	ENSP00000263112:T205K	T	-	2	0	GGT5	22958063	0.049000	0.20398	0.570000	0.28473	0.607000	0.37147	0.194000	0.17135	1.096000	0.41439	0.485000	0.47835	ACG		0.632	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		4	6	1	0	0.00909568	1	0.00950912	4	6				
TRIM48	79097	broad.mit.edu	37	11	55032490	55032490	+	Silent	SNP	C	C	T	rs201114836		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr11:55032490C>T	ENST00000417545.2	+	2	245	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	37						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTGCAGGCCCTGTTTCTACC	0.463																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(157-159)ccC>ccT		tripartite motif containing 48							73.0	76.0	75.0					11																	55032490		2188	4261	6449	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032490C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.159C>T	11.37:g.55032490C>T							p.P53P	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	245	+			37					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.159C>T	CCDS7947.2																																																																																				0.463	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			4	141	0	0	0	1	0	4	141				
XPOT	11260	broad.mit.edu	37	12	64818384	64818384	+	Silent	SNP	A	A	G			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:64818384A>G	ENST00000332707.5	+	12	1717	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	396					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CATAGGGTGAAGATGAAGCCA	0.418																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1186-1188)gaA>gaG		exportin, tRNA							101.0	98.0	99.0					12																	64818384		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818384A>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1188A>G	12.37:g.64818384A>G							p.E396E	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	12	1717	+			396					A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.1188A>G	CCDS31852.1																																																																																				0.418	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		30	53	0	0	0	1	0	30	53				
ZFHX3	463	broad.mit.edu	37	16	72829565	72829565	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr16:72829565C>T	ENST00000268489.5	-	9	7688	c.7016G>A	c.(7015-7017)cGc>cAc	p.R2339H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2339					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCAAAGATGCGCTGAAACAC	0.473																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7015-7017)cGc>cAc		zinc finger homeobox 3							157.0	144.0	148.0					16																	72829565		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829565C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7016G>A	16.37:g.72829565C>T	ENSP00000268489:p.Arg2339His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H	p.R2339H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7688	-		Ovarian(137;0.13)	2339					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7016G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762430	0.69763	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.80566	1.57;-1.39	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000101	D	0.89942	0.6861	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90315	0.4340	10	0.72032	D	0.01	.	19.722	0.96147	0.0:1.0:0.0:0.0	.	2339	Q15911	ZFHX3_HUMAN	H	2339;1425	ENSP00000268489:R2339H;ENSP00000438926:R1425H	ENSP00000268489:R2339H	R	-	2	0	ZFHX3	71387066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	CGC		0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	134	0	0	0	1	0	4	134				
MSANTD4	84437	broad.mit.edu	37	11	105880756	105880756	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr11:105880756G>C	ENST00000301919.4	-	3	1959	c.544C>G	c.(544-546)Cac>Gac	p.H182D	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	182						nucleus (GO:0005634)											TCATCAATGTGGGGGAAATCG	0.393																																						ENST00000301919.4																			0											c.(544-546)Cac>Gac		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							104.0	110.0	108.0					11																	105880756		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880756G>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.544C>G	11.37:g.105880756G>C	ENSP00000304713:p.His182Asp						p.H182D	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	1959	-			182					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.544C>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749385	0.30955	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.78	5.78	0.91487	.	0.244007	0.41823	D	0.000820	T	0.51856	0.1699	L	0.47716	1.5	0.39305	D	0.964974	B	0.31655	0.334	B	0.29176	0.099	T	0.56908	-0.7901	9	0.62326	D	0.03	-14.4826	14.8043	0.69942	0.0:0.0:0.8559:0.1441	.	182	Q8NCY6	K1826_HUMAN	D	182	.	ENSP00000304713:H182D	H	-	1	0	KIAA1826	105385966	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	5.679000	0.68160	2.734000	0.93682	0.491000	0.48974	CAC		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		15	60	0	0	0	1	0	15	60				
CUL9	23113	broad.mit.edu	37	6	43167852	43167852	+	Silent	SNP	C	C	T			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr6:43167852C>T	ENST00000252050.4	+	14	3426	c.3342C>T	c.(3340-3342)ctC>ctT	p.L1114L	CUL9_ENST00000372647.2_Silent_p.L1114L|CUL9_ENST00000354495.3_Silent_p.L1004L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1114					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACGCACAGCTCTATAGCAACC	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(3340-3342)ctC>ctT		cullin 9							64.0	55.0	58.0					6																	43167852		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43167852C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3342C>T	6.37:g.43167852C>T						CUL9_ENST00000354495.3_Silent_p.L1004L|CUL9_ENST00000372647.2_Silent_p.L1114L	p.L1114L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			14	3426	+			1114					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.3342C>T	CCDS4890.1																																																																																				0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		10	27	0	0	0	1	0	10	27				
LOC440700	440700	broad.mit.edu	37	1	165677513	165677513	+	lincRNA	DEL	G	G	-			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:165677513delG	ENST00000608512.1	-	0	0				RP11-466F5.6_ENST00000400982.2_RNA																							GCCCCTTCCTGGGATACCATG	0.557																																						ENST00000400982.2																			0																																																			440700							g.chr1:165677513delG																													1.37:g.165677513delG								NR_036683.1						0	407	+									RNA	DEL	ENST00000608512.1	37																																																																																						0.557	RP11-466F5.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000473144.1			2	4						2	4	---	---	---	---
CYP2W1	54905	broad.mit.edu	37	7	1024197	1024197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:1024197delC	ENST00000308919.7	+	2	337	c.324delC	c.(322-324)atcfs	p.I108fs	CYP2W1_ENST00000340150.6_Frame_Shift_Del_p.I52fs	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	108					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCCAGCTCATCCAGCGAGGTG	0.721																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(154-156)atfs		cytochrome P450, family 2, subfamily W, polypeptide 1							11.0	13.0	12.0					7																	1024197		2118	4221	6339	SO:0001589	frameshift_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024197delC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.324delC	7.37:g.1024197delC	ENSP00000310149:p.Ile108fs					CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.I108fs	p.I52fs			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	2	178	+		Ovarian(82;0.0112)	108						Frame_Shift_Del	DEL	ENST00000308919.7	37	c.156delC	CCDS5319.2																																																																																				0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	4						4	4	---	---	---	---
